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	NSWES969	WT	HH	HZ	NC
chr1	1334159	1334159	C	T	exonic	TAS1R3	.	nonsynonymous SNV	TAS1R3:NM_152228:exon6:c.C2254T:p.R752W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.935	P	0.128	B	0.494	N	1.000	N	1.47	L	-2.87	D	-0.402	T	0.541	D	0.44	1.225	9.969	2.65	0.530	1.291	11.780	0.408	0.148146394601	.	.	4.637e-05	0	0	0	0	9.276e-05	0	0	4.53e-05	7	154602	rs367565528	3.35e-05	4.174e-05	4.293e-05	2.392e-05	0.0003	2.595e-05	2.295e-05	6.127e-05	2.534e-05	0	0	0	0	0	0.0003	3.553e-05	1.687e-05	7.213e-05	3.939e-05	3.937e-05	5.138e-05	2.685e-05	0.0002	1.714e-05	1.129e-05	1.972e-05	1.124e-05	0	0	6.531e-05	0	0	0	0	5.881e-05	0	0.0002	0.027	0.46513	D	0.035	0.52389	D	0.935	0.52277	P	0.128	0.32786	B	0.494380	0.12021	N	0.779066	1	0.08975	N	1.855	0.49169	L	-2.87	0.91478	D	-3.45	0.67589	D	0.379	0.42050	-0.4017	0.71973	T	0.541	0.83099	D	10	0.7380151	0.74758	D	0.148146	0.83010	D	0.408	0.72022	0.733	0.86633	0.582670042736	0.57939	0.4982295269542248	0.49743	.	.	0.312632262707	0.12305	T	0.802309	0.94973	D	0.104641	0.64791	D	-0.0874676	0.64353	T	0.86818540096283	0.51816	D	0.826217	0.48957	T	0.29243672	0.52218	0.3212394	0.58073	0.29243672	0.52218	0.3212394	0.58072	-7.333	0.56430	T	.	.	0.147	0.32348	B	.	.	3.092610	0.41643	21.4	0.99494582213245675	0.67630	0.37110	0.25687	N	AEFBCI	0.307671	0.41448	N	-0.323654999984203	0.28251	1.556749	-0.407900323438354	0.24765	1.358003	0.999890112636074	0.45129	0.421363	0.06395	0	0.550933	0.16991	0	0.536957	0.11973	0	0.664235	0.64389	0	.	.	4.59	2.65	0.30588	1.412000	0.34322	3.255000	0.37052	0.587000	0.30956	0.006000	0.17386	0.098000	0.22634	0.195000	0.21750	0.3192:0.6808:0.0:0.0	11.780	0.51281	779	0.47767	GPCR family 3, C-terminal|GPCR family 3, 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	1175.98	39	chr1	1334159	.	C	T	1175.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.76;DP=1111;ExcessHet=0.0000;FS=1.586;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=-2.188e+00;SOR=0.870	GT:AD:DP:GQ:PL	0/1:63,44:107:99:1190,0,1511	20	0	1	0
chr1	3431047	3431047	G	A	exonic	PRDM16	.	nonsynonymous SNV	PRDM16:NM_022114:exon15:c.G3460A:p.E1154K	Cardiomyopathy, dilated, 1LL, Autosomal dominant;Left ventricular noncompaction 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1002751	Left_ventricular_noncompaction_8|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0014152,MedGen:C3809288,OMIM:615373,Orphanet:154,Orphanet:54260|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.808	P	0.003	N	1.000	D	2.215	M	3.37	T	-1.116	T	0.048	T	0.363	3.640	18.51	4.1	2.023	7.480	16.761	0.134	0.0187658358923	.	.	.	.	.	.	.	.	.	.	.	.	.	rs999685090	4.987e-06	5.472e-06	7.036e-06	2.886e-06	2.765e-05	2.07e-06	1.33e-06	1.99e-06	1.31e-06	0	0	0	2.765e-05	0	0	5.545e-06	0	0	1.314e-05	1.313e-05	0	2.69e-05	4.826e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.024	0.57104	D	0.993	0.65571	D	0.689	0.53736	P	0.002967	0.35639	N	0.116004	0.999967	0.52935	D	2.985	0.85602	M	3.35	0.06214	T	-1.21	0.39692	N	0.593	0.61764	-1.1163	0.02580	T	0.048	0.20355	T	10	0.3271665	0.50004	T	0.018766	0.40941	T	0.134	0.36365	0.183	0.09131	0.420073118136	0.41620	0.06339280887046313	0.06278	0.175024273015	0.19701	0.535068869591	0.43749	T	0.018577	0.62213	T	-0.0924712	0.37669	T	-0.370605	0.36818	T	0.817221283912659	0.47566	D	0.949705	0.80662	D	0.17314188	0.38045	0.20382383	0.44477	0.17314188	0.38045	0.20382383	0.44476	-5.36	0.41502	T	.	.	0.136	0.33110	B	.;.;.;.;.	.;.;.;.;.	3.863554	0.56045	23.7	0.9987458538335614	0.95160	0.89932	0.50726	D	AEFDBCI	0.934267	0.92739	D	0.452469217467346	0.64341	4.686658	0.402195837284279	0.61703	4.374033	0.99992035942804	0.46280	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.1	4.1	0.47196	7.596000	0.81977	9.650000	0.81169	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.050000	0.15192	0.0:0.0:1.0:0.0	16.761	0.85372	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	1000.98	34	chr1	3431047	.	G	A	1000.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.810e-01;DP=778;ExcessHet=0.0000;FS=0.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=-1.134e+00;SOR=0.823	GT:AD:DP:GQ:PL	0/1:34,40:74:99:1015,0,808	20	0	1	0
chr1	7933282	7933282	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A559G:p.I187V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.002	B	0.001	B	0.031	N	1.000	N	0.46	N	3.34	T	-0.965	T	0.008	T	0.041	-0.002	4.003	-6.6	-1.007	-4.202	1.562	0.009	0.00270495129526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06147	T	0.002	0.09854	B	0.001	0.04355	B	0.030551	0.01722	N	2.226600	1	0.08975	N	0.22	0.09567	N	3.34	0.38883	T	-0.08	0.08187	N	0.064	0.03613	-0.9649	0.38230	T	0.008	0.02926	T	10	0.039113462	0.02377	T	0.002705	0.05550	T	0.009	0.00846	0.276	0.22845	0.0954503805726	0.09146	0.14244755294639133	0.14167	0.0755766024316	0.08479	0.303215026855	0.10881	T	0.091535	0.38816	T	-0.396887	0.02426	T	-0.807877	0.01713	T	0.0528059709509316	0.05985	T	0.343166	0.08297	T	0.014398486	0.00092	0.024658427	0.00489	0.014398486	0.00092	0.024658427	0.00489	-3.107	0.11376	T	.	.	0.082	0.20117	B	.;.;.	.;.;.	-2.656894	0.00022	0.001	0.31864493878579497	0.01817	0.00640	0.02800	N	AEFBI	0.053752	0.09712	N	-1.55403076293908	0.01511	0.06599016	-1.62642963533454	0.01502	0.06801238	0.1723792661722	0.17755	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-6.6	0.01657	-4.246000	0.00304	-7.248000	0.01198	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.269:0.3775:0.1367:0.2167	1.562	0.02441	804	0.43891	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2778	864.06	40	chr1	7933282	.	T	C	864.06	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-3.070e-01;DP=693;ExcessHet=6.5132;FS=112.254;InbreedingCoeff=-0.4232;MLEAC=12;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=2.69;ReadPosRankSum=0.238;SOR=9.320	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:19,17:36:99:.:.:199,0,221	8	0	10	3
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.989	D	0.969	D	0.000	D	1.000	D	1.355	L	-0.82	T	-0.170	T	0.498	T	0.639	3.746	19.02	5.6	2.633	9.476	19.620	0.290	0.0482880192528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.37326	T	0.212	0.26549	T	0.989	0.62824	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.82	0.75001	T	-1.39	0.36787	N	0.734	0.75009	-0.1696	0.78438	T	0.498	0.81014	T	10	0.6018709	0.66958	D	0.048288	0.63305	D	0.290	0.60924	0.219	0.14078	0.749556767029	0.74729	0.6982153262634863	0.69762	1.23630627734	0.81476	0.814065039158	0.84115	D	0.345935	0.71426	T	0.119299	0.66301	D	-0.0664114	0.65882	T	0.84802782535553	0.49996	D	0.984102	0.94582	D	0.2858203	0.51601	0.27822828	0.53781	0.2858203	0.51601	0.27822828	0.53780	-10.724	0.78968	D	.	.	0.374	0.62311	A	.;.;.;.;.	.;.;.;.;.	5.279577	0.88650	29.7	0.99699751426161221	0.80522	0.99370	0.95141	D	AEFGBI	0.891753	0.82802	D	0.588017507858634	0.72425	5.803883	0.669916851634812	0.80102	7.224664	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	11777.12	34	chr1	10326244	.	G	C	11777.12	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-6.149e+00;DP=3631;ExcessHet=11.8493;FS=235.795;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=4.35;ReadPosRankSum=0.590;SOR=13.423	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,79:246:99:0|1:10326244_G_C:973,0,5670:10326244	8	0	13	0
chr1	11045485	11045485	C	T	exonic	MASP2	.	nonsynonymous SNV	MASP2:NM_006610:exon4:c.G467A:p.C156Y	MASP2 deficiency, Autosomal recessive	.	0	1508	14	0	0	14	0.00462046	.	.	275880	not_provided|Immunodeficiency_due_to_MASP-2_deficiency|not_specified	MedGen:C3661900|MONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791,Orphanet:331187|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.63	H	-5.76	D	0.781	D	0.985	D	0.964	4.511	24.3	4.22	2.048	7.595	15.710	0.982	0.617876174787	0.0075	0.00319489	0.0066	0.0020	0.0009	0	0.0030	0.0091	0.0094	0.0078	0.0063971	989	154602	rs41307788	0.0084	0.0084	0.0084	0.0084	0.0096	0.0083	0.0082	0.0095	0.0094	0.0013	0.0016	0.0052	5.038e-05	0.0036	0.0024	0.0096	0.0084	0.0071	0.0056	0.0056	0.0062	0.0049	0.0092	0.0053	0.0051	0.0086	0.0083	0.0020	0.0285	0.0016	0.0072	0	0.0029	0.0034	0.0092	0.0028	0.0054	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	4.395	0.98631	H	-5.76	0.99330	D	-10.46	0.99308	D	0.939	0.94550	0.781	0.94182	D	0.985	0.99538	D	10	0.06558162	0.08870	T	0.617876	0.96683	D	0.982	0.99890	.	.	0.953262336798	0.95276	0.8897999682880618	0.88949	0.334673750531	0.35479	0.706235647202	0.68048	T	0.484895	0.81202	T	0.23001	0.76722	D	0.568005	0.96196	D	0.116441120712496	0.14078	T	0.852615	0.79230	D	0.9833007	0.99351	0.98401016	0.99907	0.9784052	0.98985	0.9805422	0.99833	-12.261	0.86098	D	.	.	0.956	0.90609	P	.;.	.;.	4.858918	0.79490	27.1	0.9973246173666489	0.82904	0.98136	0.79906	D	AEFDBI	0.957603	0.97689	D	0.968969080821103	0.94707	12.97358	0.81460923233621	0.90789	10.57003	0.999999999999017	0.74766	0.495158	0.18159	0	0.573888	0.26702	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	4.22	4.22	0.49153	7.791000	0.84392	5.917000	0.51107	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	15.710	0.77376	799	0.44747	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	733.98	36	chr1	11045485	.	C	T	733.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.103e+00;DP=771;ExcessHet=0.0000;FS=6.493;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=0.057;SOR=0.863	GT:AD:DP:GQ:PL	0/1:36,31:67:99:748,0,1023	20	0	1	0
chr1	13283877	13283877	G	A	exonic	PRAMEF8	.	nonsynonymous SNV	PRAMEF8:NM_001012276:exon2:c.C215T:p.S72L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.078	B	0.007	B	0.000	N	1.000	N	0.235	N	2.57	T	-1.026	T	0.018	T	0.105	-0.298	2.577	-2.54	-0.677	-1.860	2.671	0.009	0.0264923354066	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1435289031	2.282e-05	2.397e-05	1.791e-05	2.778e-05	0.0006	1.628e-05	1.432e-05	0.0004	0.0003	2.991e-05	0.0006	0	0	0	0	5.467e-06	1.668e-05	0	8.995e-05	9.259e-05	5.37e-05	0.0001	0.0008	5.309e-05	4.156e-05	0.0004	0.0003	2.456e-05	0	0.0008	0	0	0	0	1.558e-05	0	0	0.288	0.15098	T	0.224	0.25591	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.57	0.13552	T	-0.3	0.11913	N	0.128	0.12913	.	.	.	.	.	.	.	0.062437415	0.07984	T	.	.	.	.	.	.	.	0.18995819373	0.18626	0.13254266755348457	0.13178	.	.	0.594366550446	0.52109	T	0.002673	0.02065	T	-0.0680935	0.41632	T	-0.335588	0.40843	T	.	.	.	.	.	.	0.053655934	0.10184	0.06649915	0.13630	0.053655934	0.10184	0.06649915	0.13629	-5.042	0.37293	T	.	.	0.103	0.18331	B	.;.;.	.;.;.	0.330287	0.07045	3.607	0.55659275210847503	0.05388	0.00223	0.01258	N	AEFI	0.029224	0.02720	N	.	.	.	.	.	.	1.09816412601087E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.91	-0.111	0.12914	-1.013000	0.03755	-20.000000	0.00162	0.246000	0.18300	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.3766:0.0:0.6234:0.0	4.323	0.10466	.	.	.;.;.	.	.	.	.	.	Uncertain significance	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	726.98	36	chr1	13283877	.	G	A	726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=932;ExcessHet=0.0000;FS=4.261;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.69;MQRankSum=-1.619e+00;QD=3.45;ReadPosRankSum=0.428;SOR=1.094	GT:AD:DP:GQ:PL	0/1:164,47:211:99:741,0,3987	20	0	1	0
chr1	13307084	13307084	G	A	exonic	PRAMEF33	.	nonsynonymous SNV	PRAMEF33:NM_001291381:exon3:c.G734A:p.R245H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1485833101	3.409e-05	4.101e-05	3.781e-05	3.069e-05	0.0002	2.075e-05	1.696e-05	2.799e-05	1.463e-05	0.0002	0	0	0	0	0	3.48e-05	7.433e-05	4.329e-05	3.772e-05	4.368e-05	3.43e-05	4.19e-05	8.883e-05	6.25e-06	2.34e-06	.	.	8.883e-05	0	0	0	0	0	0	0	0.0016	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1292426	0.24589	T	.	.	.	.	.	.	.	.	.	0.1445962887668047	0.14382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026599852	0.01738	0.04208145	0.04932	0.026599852	0.01738	0.04208145	0.04931	-4.237	0.27284	T	.	.	0.080	0.07841	B	.	.	0.762186	0.11320	7.941	0.629135320216894	0.07085	0.00210	0.01196	N	AEFI	.	.	.	.	.	.	.	.	.	2.98667977262085E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0424412	0.02217	0.739	-1.48	0.08286	0.228000	0.17594	-2.963000	0.03187	-1.053000	0.01634	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.3193:0.3431:0.3377:0.0	2.160	0.03590	.	.	.	.	.	.	.	.	Uncertain significance	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	231.17	14	chr1	13307084	.	G	A	231.17	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.18;DP=295;ExcessHet=0.0000;FS=26.945;InbreedingCoeff=-0.0323;MLEAC=1;MLEAF=0.024;MQ=26.78;MQRankSum=0.930;QD=9.63;ReadPosRankSum=1.03;SOR=4.799	GT:AD:DP:GQ:PL	0/1:14,10:24:99:245,0,366	20	0	1	0
chr1	13308568	13308568	T	C	exonic	PRAMEF33	.	nonsynonymous SNV	PRAMEF33:NM_001291381:exon4:c.T1106C:p.L369P,	.	.	679	828	13	2	0	17	0.0101614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201731777	0.0009	0.0017	0.0009	0.0009	0.0009	0.0008	0.0008	0.0008	0.0008	0.0009	0.0001	4.652e-05	0.0006	0.0032	0	0.0009	0.0010	0.0003	0.0008	0.0018	0.0008	0.0008	0.0013	0.0006	0.0006	0.0011	0.0010	0.0005	0	0.0001	0	0.0006	0.0002	0	0.0013	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1523625	0.28782	T	.	.	.	.	.	.	.	.	.	0.7705504389889053	0.77004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22186215	0.44772	0.23266211	0.48433	0.22186215	0.44772	0.23266211	0.48432	-9.303	0.69626	D	.	.	0.429	0.61140	A	.	.	1.867573	0.23722	16.13	0.30924229698854228	0.01717	0.00334	0.01740	N	AEFI	.	.	.	.	.	.	.	.	.	1.55844724575657E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0434673	0.02580	0.822	0.822	0.17944	0.086000	0.14780	0.350000	0.17468	0.229000	0.18133	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.0:1.0	3.983	0.08994	.	.	.	.	.	.	.	.	Uncertain significance	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	0.07895	78.98	6	chr1	13308568	.	T	C	78.98	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.480e+00;DP=491;ExcessHet=0.3476;FS=28.099;InbreedingCoeff=-0.0989;MLEAC=3;MLEAF=0.079;MQ=30.00;MQRankSum=-5.490e-01;QD=3.04;ReadPosRankSum=-1.465e+00;SOR=3.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:14,3:17:44:.:.:44,0,426	16	0	3	2
chr1	15462809	15462809	G	T	exonic	CELA2A	.	nonsynonymous SNV	CELA2A:NM_033440:exon4:c.G304T:p.V102F,	.	.	430	1073	18	1	0	20	0.00923361	.	.	3416357	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.989	D	0.945	D	0.147	U	0.900	D	2.46	M	-3.67	D	0.903	D	0.854	D	0.719	3.656	18.59	4.12	1.862	1.748	13.895	0.649	.	0.0007	0.00279553	0.0036	0	0.0004	0.0031	0.0186	0.0021	0.0088	0.0079	0.0029883	462	154602	rs150179544	0.0016	0.0016	0.0014	0.0018	0.0078	0.0016	0.0015	0.0073	0.0072	0	0.0002	0.0002	0.0040	0.0160	0.0049	0.0005	0.0019	0.0078	0.0019	0.0019	0.0013	0.0026	0.0068	0.0018	0.0017	0.0050	0.0044	4.815e-05	0	0.0002	0.0003	0.0041	0.0153	0	0.0010	0.0019	0.0068	0.002	0.72154	D	0.024	0.56640	D	0.989	0.62824	D	0.945	0.68163	D	0.146777	0.18102	U	0.445960	0.899929	0.36147	D	3.045	0.86684	M	-3.67	0.95247	D	-3.74	0.71042	D	0.624	0.63883	0.903	0.95714	D	0.854	0.95118	D	10	0.014178455	0.00299	T	.	.	.	0.649	0.86736	.	.	0.785751863453	0.78376	0.8212802996841503	0.82085	1.17828049407	0.79939	0.532764673233	0.43424	T	0.715159	0.91905	D	-0.0402213	0.45916	T	0.174154	0.81654	D	0.0738493014811126	0.09182	T	0.940606	0.77652	D	0.76030487	0.81471	0.7676706	0.86279	0.76030487	0.81473	0.7676706	0.86280	-11.626	0.82982	D	0.6794487872110885	0.75564	0.864	0.80534	P	.	.	2.957774	0.39377	20.9	0.99241424667398126	0.56565	0.48535	0.28229	N	AEFGBCI	0.291090	0.40230	N	0.10673053930489	0.46777	2.912894	-0.0860034487323224	0.35968	2.087332	0.999996150894289	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.12	4.12	0.47504	2.500000	0.45040	5.511000	0.48798	0.574000	0.29054	0.596000	0.27714	1.000000	0.68203	0.008000	0.08271	0.0:0.0:1.0:0.0	13.895	0.63267	917	0.20147	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1335.98	36	chr1	15462809	.	G	T	1335.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.895;DP=915;ExcessHet=0.0000;FS=8.265;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=-1.166e+00;SOR=0.759	GT:AD:DP:GQ:PL	0/1:67,57:124:99:1350,0,1606	20	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4286	41030.51	718	chr1	16563946	.	C	T	41030.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=0.258;DP=13151;ExcessHet=30.0624;FS=0.000;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=59.21;MQRankSum=-8.750e+00;QD=3.71;ReadPosRankSum=0.088;SOR=0.664	GT:AD:DP:GQ:PL	0/1:586,115:701:99:1636,0,17192	3	0	18	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4286	47598.51	991	chr1	16563989	.	G	C	47598.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-8.780e-01;DP=17388;ExcessHet=30.0624;FS=0.000;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=59.70;MQRankSum=-4.782e+00;QD=3.12;ReadPosRankSum=0.231;SOR=0.674	GT:AD:DP:GQ:PL	0/1:822,121:943:99:942,0,23296	3	0	18	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4048	106526.9	1008	chr1	16564107	.	T	G	106526.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.422e+00;DP=17757;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=55.80;MQRankSum=6.43;QD=7.02;ReadPosRankSum=0.689;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:772,261:1033:99:.:.:4798,0,29172	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	0/1:701,73:774:71:71,0,23093	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	0/1:564,174:738:99:3332,0,16959	1	0	20	0
chr1	16575205	16575205	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.0296	0.0017	0	0	0.0012	0.0022	6.067e-05	0.0002305	6	26028	rs758214101	0.0009	0.0013	0.0010	0.0008	0.0215	0.0009	0.0009	0.0201	0.0196	0.0215	0.0013	0.0112	0	5.674e-05	0.0029	9.052e-05	0.0025	6.974e-05	0.0063	0.0085	0.0064	0.0061	0.0210	0.0059	0.0058	0.0198	0.0194	0.0210	0	0.0022	0.0120	0	0	0	0.0001	0.0043	0.0002	.	.	.	0.057	0.47336	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	0.32481	.	.	.	.	.	.	.	0.0054886937	0.00121	T	.	.	.	.	.	.	.	0.44711355012	0.44333	0.015085218053176188	0.01464	.	.	0.531084060669	0.43187	T	.	.	.	-0.265959	0.12211	T	-0.619808	0.11201	T	.	.	.	0.686231	0.29475	T	.	.	.	.	.	.	.	.	-7.082	0.54631	T	.	.	0.197	0.41888	B	.;.	.;.	1.492896	0.19202	14.14	0.59169951056600512	0.06161	0.00464	0.02234	N	AEFBI	0.029756	0.02867	N	.	.	.	.	.	.	7.92328319456398E-5	0.04552	0.295142	0.05270	0	0.264834	0.04865	2	0.121787	0.03316	0	0.322829	0.05601	0	.	.	0.547	0.547	0.16392	0.730000	0.25711	-1.798000	0.04706	0.292000	0.18798	0.027000	0.20232	0.000000	0.08366	0.005000	0.06747	.	.	.	442	0.79946	.;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1861.02	526	chr1	16575205	.	T	C	1861.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.131e+00;DP=11145;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.024;MQ=46.27;MQRankSum=4.86;QD=2.40;ReadPosRankSum=1.48;SOR=0.620	GT:AD:DP:GQ:PL	0/1:639,136:775:99:1875,0,19942	20	0	1	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6554.32	70	chr1	16579293	.	A	G	6554.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=1.87;DP=1441;ExcessHet=36.0830;FS=139.268;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=35.97;MQRankSum=0.877;QD=5.04;ReadPosRankSum=-7.480e-01;SOR=8.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,13:81:99:0|1:16579293_A_G:312,0,2789:16579293	0	0	19	2
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	6554.32	70	chr1	16579294	.	T	C	6554.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-5.460e+00;DP=1432;ExcessHet=36.0830;FS=139.268;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=35.97;MQRankSum=0.877;QD=5.04;ReadPosRankSum=-9.680e-01;SOR=8.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,13:81:99:0|1:16579293_A_G:312,0,2789:16579293	0	0	19	2
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4286	3659.58	71	chr1	16579305	.	G	A	3659.58	.	AC=18;AF=0.429;AN=42;BaseQRankSum=3.29;DP=1401;ExcessHet=30.0624;FS=127.752;InbreedingCoeff=-0.7505;MLEAC=18;MLEAF=0.429;MQ=35.79;MQRankSum=0.355;QD=3.02;ReadPosRankSum=-7.570e-01;SOR=8.098	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,8:78:99:0|1:16579305_G_A:125,0,2902:16579305	3	0	18	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	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	0.3095	1830.34	67	chr1	16579308	.	G	C	1830.34	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.233;DP=1379;ExcessHet=11.8493;FS=101.562;InbreedingCoeff=-0.4491;MLEAC=13;MLEAF=0.310;MQ=35.77;MQRankSum=0.401;QD=2.26;ReadPosRankSum=-6.640e-01;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,8:78:99:0|1:16579305_G_A:125,0,2902:16579305	8	0	13	0
chr1	16582638	16582638	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	449	968	105	0	0	105	0.0514454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1219	0.000599042	0.2131	0.3572	0.1575	0.3394	0.1525	0.2000	0.2186	0.1841	0.0010373	27	26028	rs375545829	1.578e-05	0.0001	2.132e-05	1.038e-05	0.0003	9.86e-06	8.14e-06	0.0002	0.0001	0.0003	0.0001	0	0	0	0	4.831e-06	2.006e-05	0	0.0002	0.0011	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0003	0	0	0	0	1.475e-05	0.0005	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	0.07143	235.74	47	chr1	16582638	.	C	T	235.74	.	AC=3;AF=0.071;AN=42;BaseQRankSum=3.07;DP=948;ExcessHet=0.3300;FS=14.773;InbreedingCoeff=-0.0783;MLEAC=3;MLEAF=0.071;MQ=36.82;MQRankSum=1.10;QD=1.66;ReadPosRankSum=0.00;SOR=3.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,7:48:99:0|1:16582505_C_A:142,0,1535:16582505	18	0	3	0
chr1	16585589	16585589	A	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	444	979	99	0	0	99	0.0481283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0239617	0.2537	0.3542	0.2037	0.3206	0.2384	0.2507	0.2699	0.2182	0.0049562	129	26028	rs545990928	0.0003	0.0030	0.0004	0.0003	0.0006	0.0003	0.0003	0.0004	0.0004	0.0006	0	0.0002	0.0001	0	0.0003	0.0004	0.0003	3.641e-05	1.99e-05	0.0006	1.297e-05	2.716e-05	0.0002	5.29e-06	2.47e-06	8.1e-06	3.03e-06	4.886e-05	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	363.95	124	chr1	16585589	.	A	G	363.95	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.337e+00;DP=2025;ExcessHet=0.3300;FS=5.004;InbreedingCoeff=-0.0825;MLEAC=3;MLEAF=0.071;MQ=35.20;MQRankSum=-1.963e+00;QD=1.14;ReadPosRankSum=1.04;SOR=1.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,12:131:99:0|1:16585589_A_G:136,0,4954:16585589	18	0	3	0
chr1	16585590	16585590	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	442	981	99	0	0	99	0.0480349	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0239617	0.2530	0.3520	0.2026	0.3183	0.2384	0.2504	0.2685	0.2177	0.0049562	129	26028	rs201157551	0.0004	0.0031	0.0004	0.0003	0.0006	0.0003	0.0003	0.0004	0.0004	0.0006	0	0.0002	0.0001	0	0.0003	0.0004	0.0004	3.636e-05	3.308e-05	0.0006	3.883e-05	2.707e-05	0.0002	1.267e-05	8.03e-06	8.06e-06	3.01e-06	4.862e-05	0	6.573e-05	0	0.0002	0	0	1.481e-05	0	0	.	.	.	0.964	0.02582	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00372	.	.	.	.	.	.	.	0.0019111931	0.00026	T	.	.	.	.	.	.	.	.	.	0.014674221529618755	0.01424	.	.	0.494962483644	0.38127	T	.	.	.	-0.615897	0.00117	T	-1.12247	0.00017	T	.	.	.	0.877512	0.59164	D	.	.	.	.	.	.	.	.	-6.447	0.49876	T	.	.	0.057	0.01328	B	.;.	.;.	-0.545511	0.01726	0.128	0.38162018612620946	0.02558	0.00009	0.00143	N	AEFI	0.015283	0.00284	N	.	.	.	.	.	.	1.12467906276832E-4	0.05269	0.163922	0.03765	0	0.096583	0.02683	0	0.175069	0.04249	0	0.24341	0.04801	0	.	.	.	.	.	-1.085000	0.03500	-20.000000	0.00162	-0.421000	0.05231	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	450	0.79359	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.07143	364.01	124	chr1	16585590	.	T	C	364.01	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.45;DP=2032;ExcessHet=0.3300;FS=5.004;InbreedingCoeff=-0.0838;MLEAC=3;MLEAF=0.071;MQ=35.21;MQRankSum=-1.963e+00;QD=1.14;ReadPosRankSum=0.634;SOR=1.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,12:131:99:0|1:16585589_A_G:136,0,4954:16585589	18	0	3	0
chr1	16591948	16591948	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	379	1141	2	0	0	2	0.000875657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0189	.	0.0131	0.1443	0.0055	0	0	0.0020	0.01	0.0002	0.0105497	1631	154602	rs201576546	0.0001	0.0004	0.0001	0.0001	0.0035	0.0001	0.0001	0.0030	0.0028	0.0035	6.717e-05	0.0010	0	0	0.0005	2.52e-05	0.0002	0	0.0005	0.0015	0.0006	0.0004	0.0018	0.0004	0.0004	0.0014	0.0013	0.0018	0	6.64e-05	0.0006	0	0	0	5.892e-05	0.0014	0	.	.	.	0.115	0.42086	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.21188	.	.	.	.	.	.	.	0.0025278926	0.00038	T	.	.	.	.	.	.	.	.	.	0.06431607410502116	0.06370	.	.	0.538407564163	0.44220	T	.	.	.	-0.212618	0.19012	T	-0.543187	0.17985	T	.	.	.	0.70223	0.31206	T	.	.	.	.	.	.	.	.	1.779	0.00064	T	.	.	0.108	0.34514	B	.;.	.;.	-0.902172	0.00922	0.035	0.92894088285004783	0.22446	0.00184	0.01074	N	AEFDHCIJ	0.027552	0.02270	N	.	.	.	.	.	.	0.999999596339861	0.74766	0.205481	0.04072	1	0.550037	0.16709	0	0.216804	0.04610	0	0.364879	0.05822	1	.	.	0.566	-0.824	0.10266	-4.146000	0.00324	-20.000000	0.00162	-4.525000	0.00027	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	452	0.79239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1217.98	802	chr1	16591948	.	C	T	1217.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.512e+00;DP=7564;ExcessHet=0.0000;FS=3.802;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.78;MQRankSum=-2.944e+00;QD=1.32;ReadPosRankSum=0.339;SOR=0.943	GT:AD:DP:GQ:PL	0/1:787,135:922:99:1232,0,21099	20	0	1	0
chr1	16757526	16757526	C	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon14:c.G1900C:p.A634P,	.	.	384	766	370	1	1	373	0.195378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	1.0	D	0.999	D	0.001	D	.	.	.	.	.	.	-0.707	T	0.205	T	0.394	0.985	9.021	.	0.502	4.380	6.740	0.404	.	.	.	0.1053	0.0655	0.1365	0.0133	0.1064	0.1147	0.0930	0.1251	0.0830326	12837	154602	rs2446543	6.846e-06	7.593e-05	8.174e-06	5.505e-06	3.482e-05	3.46e-06	2.52e-06	9.25e-06	4.56e-06	2.99e-05	0	0	0	0	0	5.4e-06	0	3.482e-05	2.629e-05	0.0002	3.858e-05	1.344e-05	6.547e-05	8.14e-06	5.14e-06	1.172e-05	6.25e-06	0	0	6.547e-05	0	0	0	0	4.416e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.2143	10056.01	467	chr1	16757526	.	C	G	10056.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.907e+00;DP=7504;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=40.50;MQRankSum=-1.159e+00;QD=2.85;ReadPosRankSum=0.494;SOR=0.679	GT:AD:DP:GQ:PL	0/1:371,70:441:99:854,0,10160	12	0	9	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26,	.	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	13930.12	129	chr1	16759590	.	G	GC	13930.12	.	AC=26;AF=0.619;AN=42;BaseQRankSum=5.56;DP=1816;ExcessHet=4.5793;FS=24.066;InbreedingCoeff=-0.2117;MLEAC=26;MLEAF=0.619;MQ=45.00;MQRankSum=-3.164e+00;QD=9.41;ReadPosRankSum=-3.895e+00;SOR=1.240	GT:AD:DP:GQ:PL	0/1:52,24:76:99:564,0,1623	2	7	12	0
chr1	16760964	16760964	A	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon2:c.T206C:p.M69T,	.	.	338	890	294	0	0	294	0.141755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.191	B	0.089	B	0.081	N	.	.	.	.	.	.	-0.989	T	0.089	T	0.142	-0.797	0.685	.	0.000	1.701	.	0.053	.	.	.	0.1542	0.1357	0.2256	0.0314	0.1520	0.1481	0.1473	0.2082	0.121253	18746	154602	rs11576695	6.842e-07	2.599e-05	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	6.568e-06	5.909e-05	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.125	5178.17	639	chr1	16760964	.	A	G	5178.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.286e+00;DP=13143;ExcessHet=1.1607;FS=0.760;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=56.59;MQRankSum=2.89;QD=1.46;ReadPosRankSum=0.558;SOR=0.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:675,129:804:99:.:.:1565,0,20941	15	0	5	1
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|1:0,51,0:51:99:1|1:26282278_C_T:2248,153,0,2248,153,2248:26282278	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|2:37,0,18:55:99:0|1:26282278_C_T:522,634,2096,0,1462,1408:26282278	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|2:43,0,18:61:99:0|1:26282278_C_T:505,634,2312,0,1678,1624:26282278	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|2:43,0,18:61:99:0|1:26282278_C_T:505,634,2312,0,1678,1624:26282278	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|2:20,0,39:59:99:0|1:26282278_C_T:1549,1609,2370,0,762,644:26282278	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|1:32,39,0:71:99:0|1:26282278_C_T:1513,0,1038,1609,1155,2764:26282278	1	1	5	4
chr1	26344884	26344884	A	G	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon2:c.T1774C:p.S592P,	.	.	398	1117	7	0	0	7	0.00312361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0029	0	0	0	0.0128	0.0006	0	0.0047	0.0004657	72	154602	rs538385557	0.0006	0.0006	0.0005	0.0008	0.0056	0.0006	0.0006	0.0046	0.0045	3.174e-05	5.618e-05	3.982e-05	0	0.0023	0.0056	0.0003	0.0006	0.0050	0.0007	0.0007	0.0005	0.0008	0.0045	0.0006	0.0005	0.0030	0.0025	7.951e-05	0	0.0001	0	0	0.0024	0	0.0007	0.0015	0.0045	0.007	0.59928	D	0.372	0.16376	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.19	0.78427	T	-3.67	0.70191	D	0.045	0.01740	.	.	.	.	.	.	.	0.0076414645	0.00174	T	.	.	.	.	.	.	.	0.593458155424	0.59024	0.02519222091890092	0.02470	.	.	0.312482118607	0.12282	T	0.508241	0.82561	D	-0.544142	0.00316	T	-0.553583	0.16984	T	.	.	.	0.20068	0.02286	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12181	B	.;.;.	.;.;.	0.128573	0.05245	1.749	0.46358438282256698	0.03707	0.00081	0.00551	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.060607950324704	0.15203	0.162113	0.03585	0	0.059962	0.00310	0	0.175069	0.04249	0	0.062806	0.01542	0	0.0567458	0.13447	2.56	-0.481	0.11479	-0.598000	0.05802	-3.681000	0.02609	-0.258000	0.06954	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3975:0.0:0.3879:0.2146	2.632	0.04647	355	0.85216	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2825.98	137	chr1	26344884	.	A	G	2825.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.557e+00;DP=2339;ExcessHet=0.0000;FS=0.481;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=0.651;SOR=0.710	GT:AD:DP:GQ:PL	0/1:111,118:229:99:2840,0,2964	20	0	1	0
chr1	26346482	26346482	C	T	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon2:c.G176A:p.R59H,	.	.	421	1097	4	0	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.001	B	0.001	B	.	.	1.000	N	-0.55	N	2.39	T	-0.959	T	0.012	T	0.024	-1.109	0.135	-2.42	-0.450	-0.163	0.242	0.044	.	8.2e-05	0.000798722	0.0005	0.0001	0.0006	0	0	6.263e-05	0.0012	0.0031	0.0004463	69	154602	rs370067840	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0002	0.0030	0.0028	0	0.0004	0	5.038e-05	0	0	1.259e-05	0.0002	0.0033	0.0002	0.0002	6.426e-05	0.0003	0.0043	0.0001	0.0001	0.0029	0.0024	4.813e-05	0	0.0001	0	0.0002	0	0	0	0	0.0043	.	.	.	0.544	0.09621	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.028	0.00618	-0.9585	0.39461	T	0.012	0.04510	T	9	0.006425917	0.00146	T	.	.	.	0.044	0.11924	.	.	0.0297737177859	0.01360	0.04577471199051958	0.04521	.	.	0.206053942442	0.00655	T	.	.	.	-0.782315	0.00011	T	-0.899882	0.00503	T	0.0125665755209146	0.00209	T	0.416558	0.10945	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.46250	B	.;.;.	.;.;.	0.382107	0.07541	4.190	0.5933387920255544	0.06200	0.00575	0.02600	N	AEFDBHCI	.	.	.	-1.48351235336492	0.01966	0.08633371	-1.46811101694895	0.02610	0.1203354	0.0267706460024836	0.13733	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.04	-2.42	0.06164	-0.432000	0.07026	-4.291000	0.02235	-0.780000	0.03343	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3138:0.1908:0.1383:0.3571	0.242	0.00179	349	0.85513	.;.;.	.	.	.	.	.	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	2484.98	48	chr1	26346482	.	C	T	2484.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.280e-01;DP=1026;ExcessHet=0.0000;FS=2.374;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=0.00;SOR=0.561	GT:AD:DP:GQ:PL	0/1:105,103:208:99:2499,0,2560	20	0	1	0
chr1	27966862	27966862	C	T	exonic	XKR8	.	nonsynonymous SNV	XKR8:NM_018053:exon3:c.C850T:p.R284W,	.	.	.	.	.	.	.	.	.	.	.	2397715	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	1.0	D	0.999	D	0.000	D	1.000	D	3.08	M	-0.34	T	0.161	D	0.556	D	0.862	3.887	19.76	4.73	2.460	2.157	17.884	0.554	0.090390089332	7.7e-05	.	2.498e-05	9.827e-05	0	0	0	3.026e-05	0	0	1.94e-05	3	154602	rs373110864	5.473e-06	5.472e-06	5.445e-06	5.501e-06	0.0002	2.35e-06	1.7e-06	9.89e-06	3.7e-06	5.974e-05	0	0	0	0	0.0002	8.993e-07	6.624e-05	0	3.941e-05	3.94e-05	6.421e-05	1.345e-05	0.0001	1.715e-05	1.129e-05	4.737e-05	3.052e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	-0.34	0.68474	T	-6.62	0.92128	D	0.76	0.75834	0.161	0.85252	D	0.556	0.83775	D	10	0.868068	0.86059	D	0.09039	0.75509	D	0.554	0.81601	.	.	0.712799843107	0.71028	0.9101957929875304	0.90993	1.31041009632	0.83197	0.56376105547	0.47798	T	0.432958	0.78055	T	0.0992769	0.64215	D	0.184263	0.82241	D	0.986052393913269	0.76874	D	0.893911	0.63238	D	0.79152673	0.83369	0.74643755	0.85012	0.79152673	0.83370	0.74643755	0.85013	-9.507	0.70903	D	.	.	0.260	0.49480	B	.	.	5.361419	0.89912	31	0.99924147919662265	0.98980	0.97090	0.72631	D	AEFDBI	0.765265	0.70181	D	0.678020779597527	0.78193	6.822352	0.588037056734303	0.74081	6.076778	0.999999832894926	0.74766	0.675385	0.55134	0	0.577304	0.33150	0	0.693117	0.63056	0	0.635551	0.53088	0	.	.	4.73	4.73	0.59485	2.867000	0.48126	7.612000	0.61951	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.853000	0.40368	0.0:1.0:0.0:0.0	17.884	0.88763	568	0.70638	.	.	.	.	.	.	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	1310.98	33	chr1	27966862	.	C	T	1310.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.94;MQRankSum=0.00;QD=10.83;ReadPosRankSum=0.395;SOR=0.720	GT:AD:DP:GQ:PL	0/1:68,53:121:99:1325,0,1674	20	0	1	0
chr1	31319132	31319132	G	A	exonic	ZCCHC17	.	nonsynonymous SNV	ZCCHC17:NM_001282571:exon3:c.G5A:p.G2E,	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	.	0.0009	0.0006	0	0	0.0002	0.0012	0.0011	0.0014	0.0009638	149	154602	rs148438693	0.0022	0.0022	0.0022	0.0022	0.0026	0.0021	0.0021	0.0025	0.0025	0.0002	0.0002	0	0	0.0002	0.0002	0.0026	0.0020	0.0021	0.0009	0.0009	0.0010	0.0008	0.0017	0.0008	0.0007	0.0014	0.0013	0.0004	0	0.0001	0	0	9.446e-05	0	0.0017	0.0010	0.0012	.	.	.	0.203	0.27325	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.166	0.17553	.	.	.	.	.	.	.	0.028461963	0.00978	T	.	.	.	.	.	.	.	0.758361148616	0.75616	.	.	.	.	.	.	.	0.364316	0.72992	T	-0.496379	0.00599	T	-0.48758	0.23643	T	.	.	.	0.445855	0.12478	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00220	B	.	.	0.903686	0.12780	9.295	0.72224625456853286	0.09899	0.15493	0.18939	N	AEFBI	0.004370	0.00002	N	.	.	.	.	.	.	0.739272047334028	0.23184	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	4.46	0.53567	0.811000	0.26855	5.070000	0.47169	-0.102000	0.15922	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.9111:0.0:0.0889:0.0	8.188	0.30513	867	0.32089	.	.	.	.	.	.	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	1918.98	34	chr1	31319132	.	G	A	1918.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.086;DP=848;ExcessHet=0.0000;FS=1.229;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-9.660e-01;SOR=0.577	GT:AD:DP:GQ:PL	0/1:81,82:163:99:1933,0,1940	20	0	1	0
chr1	31655425	31655425	C	G	exonic	COL16A1	.	nonsynonymous SNV	COL16A1:NM_001856:exon67:c.G4179C:p.K1393N,	.	.	406	1108	8	0	0	8	0.00359712	.	.	2224873	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.44	T	0.99	D	0.909	D	0.032	N	1.000	N	0.12	N	-3.27	D	0.112	D	0.680	D	0.228	1.535	11.09	3.62	1.291	1.752	8.329	0.492	0.0471251451918	0.0002	0.000199681	0.0002	0	0.0002	0	0	0.0002	0.0011	0.0008	0.0001876	29	154602	rs199551630	0.0001	0.0001	0.0001	0.0002	0.0021	0.0001	0.0001	0.0012	0.0009	0.0001	0.0002	0.0009	0	0	0.0021	6.924e-05	0.0003	0.0007	0.0001	0.0001	0.0002	8.059e-05	0.0002	7.573e-05	6.279e-05	5.844e-05	4.24e-05	4.813e-05	0	0	0.0014	0.0002	0	0.0034	0.0001	0	0.0002	0.177	0.22224	T	0.321	0.19073	T	0.982	0.60036	D	0.814	0.58796	P	0.031670	0.25135	N	0.400085	0.705687	0.30061	N	0.43	0.12624	N	-3.27	0.93640	D	-1.09	0.28290	N	0.598	0.61680	0.112	0.84399	D	0.680	0.88926	D	10	0.32209235	0.49563	T	0.047125	0.62778	D	0.492	0.77847	0.566	0.68768	0.818868633688	0.81715	0.6118030765207085	0.61112	0.184506560388	0.20751	0.738814115524	0.72797	T	0.011128	0.09967	T	-0.236329	0.15819	T	-0.206161	0.54062	T	0.0285996729011481	0.01777	T	0.908009	0.67517	D	0.11735247	0.27666	0.10183054	0.24387	0.11735247	0.27666	0.10183054	0.24387	-3.409	0.15177	T	.	.	0.747	0.74935	P	.	.	2.817456	0.37108	20.4	0.97416656578332461	0.33855	0.95707	0.65813	D	AEFDBI	0.659674	0.63051	D	0.133692905615755	0.48040	3.021496	0.166824012603335	0.48039	3.025446	0.999990366949832	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.53	3.62	0.40616	0.802000	0.26730	1.797000	0.28849	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.816:0.0:0.184	8.329	0.31334	759	0.50631	.	.	.	.	.	.	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	1047.98	33	chr1	31655425	.	C	G	1047.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.980e-01;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.03;ReadPosRankSum=-6.300e-02;SOR=0.664	GT:AD:DP:GQ:PL	0/1:49,46:95:99:1062,0,1216	20	0	1	0
chr1	32221884	32221884	G	A	exonic	TMEM234	.	nonsynonymous SNV	TMEM234:NM_001366191:exon2:c.C151T:p.L51F	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	0.995	D	2.575	M	.	.	-0.118	T	0.423	T	0.595	4.470	23.9	3.71	2.484	2.428	12.573	0.657	0.0165622972943	.	0.000199681	1.696e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs559239080	7.529e-06	7.524e-06	6.81e-06	8.256e-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	1.316e-05	1.313e-05	1.287e-05	1.348e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	0.005	0.63226	D	0.078	0.48594	T	1.0	0.90584	D	0.999	0.92359	D	0.000018	0.62929	D	0.000000	0.995312	0.42636	D	2.56	0.74772	M	.	.	.	-3.56	0.68880	D	0.704	0.72209	-0.1181	0.79678	T	0.423	0.76750	T	9	0.7922332	0.78761	D	0.016562	0.37875	T	0.657	0.87135	0.731	0.86460	0.0551355673512	0.04727	0.1966761652835912	0.19584	0.760389807308	0.64234	0.546030640602	0.45298	T	0.176536	0.52651	T	-0.0882001	0.38372	T	-0.16087	0.58274	T	0.957961022853851	0.65146	D	0.79822	0.44280	T	0.36297816	0.58062	0.40407085	0.64845	0.36297816	0.58063	0.40407085	0.64845	-9.406	0.70272	D	.	.	0.274	0.63296	B	.;.;.	.;.;.	4.797956	0.77929	26.8	0.99851487198659461	0.93102	0.55702	0.29930	D	AEFDGBHCI	0.235274	0.35791	N	0.670753276790786	0.77716	6.728663	0.595065362338197	0.74585	6.162128	0.999999999979773	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.52208	0.10781	0	0.638787	0.57140	0	.	.	4.63	3.71	0.41733	2.147000	0.41849	6.428000	0.55627	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0847:0.0:0.9153:0.0	12.573	0.55698	455	0.79073	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1179.98	36	chr1	32221884	.	G	A	1179.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.810e-01;DP=873;ExcessHet=0.0000;FS=1.584;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=1.22;SOR=0.874	GT:AD:DP:GQ:PL	0/1:53,49:102:99:1194,0,1441	20	0	1	0
chr1	32964520	32964520	G	T	exonic	RNF19B	.	nonsynonymous SNV	RNF19B:NM_001127361:exon1:c.C166A:p.P56T	.	.	484	1011	24	3	0	30	0.0146199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.001	B	0.001	B	.	.	1.000	N	0.55	N	1.53	T	-0.992	T	0.035	T	0.149	1.131	9.611	0.671	0.240	0.596	2.988	0.011	0.0905282167101	.	.	0	.	.	.	.	.	.	0	0.0012294	32	26028	rs113914269	0.0114	0.0081	0.0116	0.0111	0.0121	0.0112	0.0111	0.0119	0.0118	0.0011	0.0015	0.0009	0	0.0053	0.0110	0.0121	0.0066	0.0108	0.0069	0.0069	0.0077	0.0061	0.0125	0.0066	0.0064	0.0109	0.0106	0.0021	0.0044	0.0013	0.0015	0	0.0078	0	0.0116	0.0054	0.0125	0.007	0.61437	D	0.548	0.09489	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	1.52	0.30669	T	0.48	0.03140	N	0.099	0.11769	-0.9923	0.32012	T	0.035	0.14987	T	9	0.0041148067	0.00081	T	0.090528	0.75535	D	0.011	0.01250	.	.	.	.	0.5752773355516083	0.57456	0.48616971444	0.47485	0.859681546688	0.91063	D	0.067101	0.33116	T	-0.598122	0.00150	T	-0.624403	0.10843	T	0.0512993875645606	0.05727	T	0.545245	0.19406	T	0.07603554	0.17170	0.084703125	0.19505	0.07603554	0.17170	0.084703125	0.19504	-6.792	0.52603	T	.	.	0.077	0.08948	B	.;.;.	.;.;.	2.457493	0.31654	18.81	0.93418725365160415	0.23185	0.05231	0.11062	N	AEFDBCI	0.029484	0.02791	N	-0.946736287698288	0.09767	0.4636599	-0.926576949785219	0.11468	0.5844069	0.999999979227953	0.74766	0.495885	0.18260	0	0.171818	0.04012	3	0.608004	0.38603	0	0.621717	0.48901	0	.	.	1.63	0.671	0.17097	0.966000	0.28929	8.356000	0.77021	0.272000	0.18543	0.004000	0.16614	1.000000	0.68203	0.649000	0.32665	0.1941:0.2924:0.5135:0.0	2.988	0.05610	542	0.72843	.;.;.	.	.	.	.	.	Uncertain significance	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	608.53	4	chr1	32964520	.	G	T	608.53	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.54;DP=226;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0636;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=1.29;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,2:13:41:0|1:32964501_T_G:41,0,313:32964501	19	0	2	0
chr1	34761933	34761933	C	T	exonic	GJB4	.	nonsynonymous SNV	GJB4:NM_153212:exon2:c.C679T:p.R227W,	Erythrokeratodermia variabilis with erythema gyratum repens, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.995	D	0.394	B	0.106	N	1.000	N	0.805	L	-4.58	D	0.335	D	0.833	D	0.187	3.246	16.89	2.15	0.119	0.692	6.397	0.357	0.106835521315	0.0002	0.000399361	0.0001	0	0	0.0001	0	0.0001	0	0.0005	0.0001229	19	154602	rs185327282	7.046e-05	7.046e-05	5.173e-05	8.939e-05	0.0007	5.914e-05	5.523e-05	0.0002	0.0002	8.961e-05	4.472e-05	0	0	0	0.0007	5.755e-05	4.968e-05	0.0003	4.596e-05	4.593e-05	5.139e-05	4.027e-05	0.0002	2.108e-05	1.526e-05	2.846e-05	1.858e-05	0	0	0	0	0.0002	0	0	7.349e-05	0.0005	0	0.005	0.63226	D	0.036	0.52060	D	0.995	0.67487	D	0.394	0.44277	B	0.105692	0.02590	N	1.783920	1	0.08975	N	1.59	0.40313	L	-4.58	0.97812	D	-1.5	0.36586	N	0.181	0.19593	0.335	0.88104	D	0.833	0.94411	D	10	0.07632479	0.11909	T	0.106836	0.78263	D	0.357	0.67782	.	.	0.892984888674	0.89192	0.41148239319536833	0.41064	0.0882617889856	0.09970	0.283795833588	0.08027	T	0.070756	0.34038	T	-0.18104	0.23580	T	-0.175862	0.56905	T	0.197046712040901	0.20252	T	0.50065	0.15660	T	0.055852365	0.10909	0.042397052	0.05041	0.055852365	0.10909	0.042397052	0.05041	-7.066	0.54515	T	.	.	0.086	0.10642	B	.	.	1.740026	0.22144	15.50	0.99742304511739821	0.83629	0.15661	0.19020	N	AEFDBI	0.137349	0.25831	N	-0.466202417287087	0.23195	1.243821	-0.595117532553385	0.19619	1.053459	0.999988771191974	0.51787	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.46	2.15	0.26590	1.623000	0.36618	0.285000	0.16810	-0.230000	0.07744	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.4023:0.5102:0.0:0.0875	6.397	0.20819	907	0.22727	.	.	.	.	.	.	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	1747.98	37	chr1	34761933	.	C	T	1747.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=838;ExcessHet=0.0000;FS=2.528;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.61;ReadPosRankSum=-1.211e+00;SOR=0.457	GT:AD:DP:GQ:PL	0/1:45,67:112:99:1762,0,986	20	0	1	0
chr1	34785102	34785102	G	A	exonic	GJB3	.	nonsynonymous SNV	GJB3:NM_001005752:exon2:c.G340A:p.A114T	Deafness, autosomal dominant 2B, Autosomal dominant;Deafness, autosomal dominant, with peripheral neuropathy (3);Deafness, autosomal recessive (3);Deafness, digenic, GJB2/GJB3, Autosomal recessive, Digenic dominant;Erythrokeratodermia variabilis et progressiva, Autosomal recessive, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	55248	not_provided|not_specified|Erythrokeratodermia_variabilis_et_progressiva_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0033010,MedGen:C4551486,OMIM:133200,Orphanet:317	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.28	T	0.002	B	0.001	B	0.405	N	0.985	N	1.78	L	-4.55	D	0.024	D	0.791	D	0.046	0.187	5.009	-3.6	-0.952	0.740	0.371	0.243	0.0567662640167	.	0.000798722	0.0003	9.651e-05	0	0.0001	0	0.0001	0.0011	0.0013	0.0002264	35	154602	rs199689484	0.0002	0.0002	0.0001	0.0002	0.0013	0.0001	0.0001	0.0011	0.0010	2.987e-05	2.236e-05	0.0015	0.0001	0	0.0002	5.935e-05	0.0002	0.0013	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	8.714e-05	0.0008	0.0006	4.811e-05	0	0	0.0006	0	0	0.0034	0.0001	0	0.0017	0.632	0.05121	T	0.429	0.13752	T	0.002	0.09854	B	0.001	0.04355	B	0.404709	0.13077	N	0.679982	0.999975	0.18612	N	0.445	0.12748	N	-4.55	0.97753	D	-0.07	0.08033	N	0.039	0.01274	0.024	0.82741	D	0.791	0.92928	D	10	0.012672514	0.00271	T	0.056766	0.66723	D	0.243	0.54921	.	.	0.701431529907	0.69884	0.6127885868310406	0.61210	0.0631666422349	0.07030	0.314917594194	0.12651	T	0.435373	0.78213	T	-0.391963	0.02613	T	-0.376338	0.36149	T	0.0130941924501172	0.00230	T	0.0233977	0.00138	T	0.051568218	0.09489	0.06283622	0.12354	0.05738788	0.11414	0.06545711	0.13270	-4.301	0.28191	T	0.08538512769925853	0.04811	0.067	0.02609	B	.;.	.;.	0.186409	0.05734	2.176	0.91083555304345765	0.20336	0.18104	0.20121	N	AEFDGBHCI	0.187158	0.31445	N	-1.41768326810932	0.02483	0.1097264	-1.42219957742226	0.03031	0.1406112	0.999999987815902	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.49644	0.08281	0	0.542086	0.14980	0	.	.	5.84	-3.6	0.04277	0.674000	0.24897	-3.656000	0.02627	-1.588000	0.00909	0.307000	0.25387	0.000000	0.08366	0.110000	0.18741	0.293:0.2139:0.2699:0.2232	0.371	0.00353	904	0.23766	Connexin, N-terminal;Connexin, 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	0	0	1	0	0.02381	2309.98	33	chr1	34785102	.	G	A	2309.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=943;ExcessHet=0.0000;FS=3.143;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=0.080;SOR=0.946	GT:AD:DP:GQ:PL	0/1:120,91:211:99:2324,0,2993	20	0	1	0
chr1	35565626	35565626	G	A	exonic	NCDN	.	nonsynonymous SNV	NCDN:NM_001014841:exon7:c.G2102A:p.R701H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.006	B	0.001	B	0.001	D	0.795	D	0	N	.	.	-1.023	T	0.078	T	0.175	2.746	15.14	3.25	0.575	4.678	10.804	0.111	0.00555395431203	8.1e-05	.	4.971e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs368983567	1.491e-05	3.625e-05	1.406e-05	1.577e-05	5.315e-05	9.58e-06	8.13e-06	8.81e-06	6.54e-06	3.057e-05	2.587e-05	3.938e-05	5.315e-05	0	0	1.373e-05	0	1.228e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.30097	T	0.049	0.48336	D	0.006	0.13644	B	0.001	0.04355	B	0.000926	0.41028	D	0.240335	0.795396	0.34441	D	0.345	0.11182	N	.	.	.	-0.5	0.15782	N	0.05	0.02559	-1.0231	0.22704	T	0.078	0.31193	T	9	0.08860859	0.15272	T	0.005554	0.14319	T	0.111	0.31313	.	.	0.102598925029	0.09809	0.4504227748893339	0.44960	1.50912711962	0.87195	0.540147662163	0.44466	T	0.113926	0.43135	T	-0.15995	0.26767	T	-0.467533	0.25781	T	0.115820256508998	0.14016	T	0.842916	0.51943	T	0.0521123	0.09672	0.045380708	0.06095	0.0521123	0.09671	0.045380708	0.06094	-3.809	0.20939	T	.	.	0.090	0.12750	B	.;.;.	.;.;.	4.563562	0.71934	25.7	0.99696342079828182	0.80316	0.89582	0.50139	D	AEFDBI	0.325212	0.42686	N	-0.306970834388735	0.28883	1.596868	-0.114011111019909	0.34824	2.007603	0.99976367393363	0.42728	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.528226	0.09195	0	.	.	5.13	3.25	0.36363	4.784000	0.62103	7.613000	0.61989	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1552:0.0:0.8448:0.0	10.804	0.45709	354	0.85282	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	687.98	30	chr1	35565626	.	G	A	687.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.229;DP=703;ExcessHet=0.0000;FS=1.209;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.96;ReadPosRankSum=0.692;SOR=1.109	GT:AD:DP:GQ:PL	0/1:19,27:46:99:702,0,428	20	0	1	0
chr1	39357639	39357639	G	A	exonic	MACF1	.	nonsynonymous SNV	MACF1:NM_012090:exon39:c.G5503A:p.E1835K,	.	.	371	1149	2	0	0	2	0.000869565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	D	1.000	D	2.34	M	0.85	T	-0.320	T	0.429	T	0.721	5.854	36	6.07	2.884	6.306	20.644	0.394	0.0155289910145	.	.	9.064e-05	0	0	0.0001	0.0002	1.499e-05	0	0.0005	7.12e-05	11	154602	rs767984628	5.199e-05	5.199e-05	1.77e-05	8.663e-05	0.0007	4.258e-05	3.888e-05	0.0006	0.0005	2.987e-05	0	0	0.0002	0	0	5.396e-06	4.967e-05	0.0007	5.253e-05	5.249e-05	0	0.0001	0.0012	2.556e-05	1.829e-05	0.0005	0.0004	0	0	0	0	0	0.0002	0	0	0	0.0012	0.026	0.68238	D	0.022	0.57587	D	1.0	0.90584	D	0.994	0.88582	D	0.000011	0.62929	D	0.000000	1	0.81001	D	.	.	.	0.85	0.47130	T	-3.74	0.71042	D	0.723	0.77319	-0.3197	0.74430	T	0.429	0.77166	T	10	0.36175263	0.52787	T	0.015529	0.36313	T	0.394	0.70924	0.595	0.72494	0.555997481481	0.55259	0.3137189551651749	0.31284	.	.	0.506075382233	0.39674	T	0.127631	0.74190	T	-0.170592	0.25146	T	-0.118657	0.61913	T	0.857739984989166	0.50846	D	0.935206	0.84889	D	0.51625514	0.68044	0.5028547	0.71262	0.46539727	0.65008	0.47232527	0.69410	-8.365	0.73564	D	.	.	0.156	0.44527	B	.;.;.;.;.;.	.;.;.;.;.;.	3.917058	0.57157	23.8	0.99939132682107601	0.99734	0.98576	0.84281	D	AEFBI	0.689048	0.64985	D	0.572546389207203	0.71465	5.655008	0.649787248932007	0.78596	6.907941	0.999999999798088	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	6.07	6.07	0.98675	6.417000	0.73244	11.908000	0.99523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.644	0.99572	583	0.69484	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1158.98	40	chr1	39357639	.	G	A	1158.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.16;DP=806;ExcessHet=0.0000;FS=3.977;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-8.120e-01;SOR=1.194	GT:AD:DP:GQ:PL	0/1:49,44:93:99:1173,0,1192	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	1/1:0,15,0:15:45:.:.:470,45,0,470,45,470	0	12	8	0
chr1	40292475	40292475	C	T	exonic	ZMPSTE24	.	nonsynonymous SNV	ZMPSTE24:NM_005857:exon10:c.C1234T:p.R412C,	Mandibuloacral dysplasia with type B lipodystrophy, Autosomal recessive;Restrictive dermopathy, lethal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.29	M	-2.64	D	0.973	D	0.879	D	0.98	4.413	23.4	5.44	2.560	5.613	14.943	0.913	0.436463695309	.	.	1.652e-05	0	8.637e-05	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs766674328	1.3e-05	1.3e-05	1.497e-05	1.1e-05	2.52e-05	8.31e-06	6.7e-06	9.31e-06	7.61e-06	0	2.236e-05	0	2.52e-05	0	0	1.529e-05	0	0	3.288e-05	3.284e-05	3.858e-05	2.692e-05	5.883e-05	1.262e-05	7.99e-06	1.973e-05	1.125e-05	0	0	0	0	0	9.434e-05	0	5.883e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.845	0.95734	H	-2.64	0.90147	D	-7.47	0.94958	D	0.939	0.94550	0.973	0.96748	D	0.879	0.95995	D	10	0.96975756	0.96543	D	0.436464	0.94082	D	0.913	0.97700	.	.	0.99780080984	0.99777	0.9782087976914678	0.97811	0.851614069957	0.68559	0.868409514427	0.92340	D	0.954087	0.99359	D	0.415568	0.90786	D	0.442023	0.93374	D	0.999800741672516	0.99090	D	0.978627	0.92475	D	0.93689823	0.94932	0.7139044	0.83117	0.93689823	0.94932	0.7139044	0.83118	-11.083	0.80111	D	0.7734090512890593	0.85416	0.983	0.91661	P	.	.	5.933619	0.94106	33	0.99914771916250233	0.98309	0.97573	0.75637	D	AEFGBI	0.799377	0.72565	D	0.873931566404331	0.90426	10.398	0.809272797507848	0.90430	10.404	0.999999911551068	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	5.751000	0.68358	7.640000	0.63152	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1435:0.8565:0.0:0.0	14.943	0.70658	673	0.60677	Peptidase M48	.	.	.	.	.	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	584.98	39	chr1	40292475	.	C	T	584.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=754;ExcessHet=0.0000;FS=1.098;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=-4.500e-02;SOR=0.527	GT:AD:DP:GQ:PL	0/1:31,22:53:99:599,0,798	20	0	1	0
chr1	43222837	43222837	-	CAC	exonic	CFAP57	.	nonframeshift insertion	CFAP57:NM_001195831:exon16:c.2546_2547insCAC:p.V849_R850insT	.	.	2	1507	12	1	0	14	0.00462351	.	.	3197253	CFAP57-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00638978	0.0160	0.0016	0.0055	0.0047	0	0	0	0.0431	0.0003842	10	26028	rs549638533	0.0022	0.0021	0.0015	0.0028	0.0248	0.0021	0.0021	0.0239	0.0235	0.0002	0.0005	0	0.0030	2.084e-05	0.0039	0.0007	0.0029	0.0248	0.0013	0.0013	0.0008	0.0019	0.0237	0.0012	0.0011	0.0202	0.0189	0.0003	0	0.0003	0	0.0056	0	0.0102	0.0006	0.0005	0.0237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	621.94	35	chr1	43222837	.	T	TCAC	621.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.920e-01;DP=703;ExcessHet=0.0000;FS=7.067;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.21;ReadPosRankSum=1.21;SOR=0.105	GT:AD:DP:GQ:PL	0/1:12,16:28:99:636,0,456	20	0	1	0
chr1	45457692	45457692	C	T	exonic	TESK2	.	nonsynonymous SNV	TESK2:NM_007170:exon2:c.G94A:p.V32M,	.	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.119	B	0.063	B	0.641	N	1.000	N	0.345	N	2.46	T	-0.931	T	0.177	T	0.084	0.403	6.187	-7.33	-1.739	-0.638	11.904	0.037	0.0239106135479	0.0025	0.00219649	0.0039	0.0012	0.0031	0	0.0014	0.0047	0.0022	0.0059	0.0037063	573	154602	rs139535559	0.0040	0.0040	0.0040	0.0041	0.0063	0.0040	0.0039	0.0059	0.0057	0.0005	0.0021	0.0069	2.519e-05	0.0013	0.0029	0.0043	0.0036	0.0063	0.0027	0.0027	0.0028	0.0026	0.0072	0.0025	0.0024	0.0054	0.0047	0.0008	0.0011	0.0016	0.0049	0	0.0005	0.0034	0.0042	0.0033	0.0072	0.242	0.18691	T	0.156	0.31833	T	0.007	0.14184	B	0.011	0.15521	B	0.641495	0.05871	N	1.180580	1	0.08975	N	0	0.06538	N	-0.76	0.73417	T	-0.14	0.09135	N	0.113	0.12913	-0.9314	0.43933	T	0.177	0.52256	T	10	0.0035657287	0.00064	T	0.023911	0.46889	T	0.037	0.09474	.	.	0.401185642668	0.39728	0.2119062408482869	0.21106	0.199440583256	0.22341	0.291976153851	0.09211	T	0.009183	0.08373	T	-0.545465	0.00310	T	-0.553687	0.16974	T	0.00435145716154146	0.00046	T	0.658334	0.26756	T	0.02780432	0.02024	0.058193475	0.10713	0.02780432	0.02024	0.058193475	0.10712	-4.992	0.36753	T	.	.	0.089	0.12276	B	.;.	.;.	-0.002648	0.04265	1.060	0.90670885882896302	0.19922	0.01462	0.04886	N	AEFI	0.047805	0.08090	N	-1.55302367145856	0.01517	0.06624543	-1.63442238318577	0.01458	0.06597184	0.0181758768570301	0.13029	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.06	-7.33	0.01284	-0.403000	0.07275	-2.453000	0.03735	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.458000	0.28074	0.0:0.606:0.0906:0.3035	11.904	0.51982	153	0.93993	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3678.11	39	chr1	45457692	.	C	T	3678.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.900e-01;DP=986;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=0.203;SOR=0.696	GT:AD:DP:GQ:PL	0/1:92,84:176:99:1952,0,2264	19	0	2	0
chr1	45495492	45495492	A	G	exonic	CCDC163	.	nonsynonymous SNV	CCDC163:NM_001358407:exon4:c.T316C:p.C106R,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0	0	0.0005	2.59e-05	4	154602	rs752727355	4.54e-05	3.976e-05	4.356e-05	4.697e-05	0.0003	3.115e-05	2.632e-05	0.0002	0.0002	0	0	0	0	0	0.0002	1.894e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1616.98	33	chr1	45495492	.	A	G	1616.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.210e-01;DP=896;ExcessHet=0.0000;FS=1.932;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.35;ReadPosRankSum=-6.500e-02;SOR=0.874	GT:AD:DP:GQ:PL	0/1:102,71:173:99:1631,0,2655	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	2/2:3,0,35:38:77:.:.:1041,1047,1075,77,105,0	0	2	0	0
chr1	53271287	53271287	T	C	exonic	LRP8	.	nonsynonymous SNV	LRP8:NM_033300:exon5:c.A556G:p.I186V	.	.	405	1116	1	0	0	1	0.000447828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.001	B	0.002	B	.	.	1.000	D	0.515	N	-3.95	D	0.056	D	0.691	D	0.171	0.702	7.744	2.85	1.022	2.066	5.66	0.303	0.0311677559882	0.0016	0.000599042	0.0004	0.0024	0.0003	0	0	0.0002	0.0033	6.056e-05	0.0003234	50	154602	rs143464327	0.0002	0.0002	0.0002	0.0002	0.0033	0.0002	0.0002	0.0028	0.0026	0.0033	0.0007	0	0	0	0.0017	0.0001	0.0004	0.0002	0.0014	0.0014	0.0013	0.0014	0.0035	0.0012	0.0011	0.0031	0.0029	0.0035	0	0.0021	0	0	0	0.0034	0.0003	0.0024	0.0004	0.064	0.38185	T	0.148	0.40586	T	0.0	0.07471	B	0.002	0.06944	B	.	.	.	.	0.999488	0.81001	D	-0.065	0.04868	N	-3.95	0.96175	D	-0.83	0.22727	N	0.243	0.31027	0.056	0.83362	D	0.691	0.89353	D	9	0.022085696	0.00543	T	0.031168	0.53315	D	0.303	0.62400	.	.	0.636201053135	0.63321	0.6848334474630766	0.68422	0.315642752976	0.33839	0.347344040871	0.17530	T	0.214379	0.57595	T	-0.25682	0.13276	T	-0.141002	0.60031	T	0.0115422987487229	0.00174	T	0.827917	0.50504	T	0.06420636	0.13600	0.08061615	0.18250	0.06420636	0.13599	0.08061615	0.18250	-8.09	0.62067	D	.	.	0.172	0.37746	B	.;.;.;.	.;.;.;.	2.264449	0.28940	17.96	0.93309684773022428	0.23025	0.93171	0.57510	D	AEFDGBI	0.426334	0.49073	N	-0.47734939655551	0.22825	1.221464	-0.354556474304451	0.26369	1.45602	0.914694119543582	0.26461	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.27	2.85	0.32333	3.404000	0.52371	2.277000	0.31871	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.238000	0.22948	0.0:0.1456:0.1438:0.7106	5.66	0.16940	425	0.81160	EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1325.98	37	chr1	53271287	.	T	C	1325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.213;DP=823;ExcessHet=0.0000;FS=4.153;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.07;ReadPosRankSum=1.28;SOR=0.366	GT:AD:DP:GQ:PL	0/1:42,46:88:99:1340,0,1116	20	0	1	0
chr1	53917027	53917027	C	T	exonic	HSPB11	.	stopgain	HSPB11:NM_001382261:exon6:c.G408A:p.W136X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs757409079	0.0002	0.0001	0.0001	0.0003	0.0002	0.0001	9.868e-05	0.0001	9.096e-05	0	0	0.0012	0	0	0	0.0002	0.0002	0	0.0002	0.0002	0.0002	0.0002	0.0015	0.0002	0.0001	0.0007	0.0005	4.825e-05	0	0.0001	0.0009	0	0	0	0.0003	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.46076	0.00973	T	-0.899626	0.00505	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	0.107516	0.05076	1.615	0.79673185849270345	0.12848	0.00468	0.02246	N	AEFBI	0.037514	0.05170	N	.	.	.	.	.	.	0.00180056667003234	0.08891	0.106106	0.02776	0	0.104858	0.03167	0	0.083675	0.02720	0	0.109871	0.03346	0	.	.	0.401	0.401	0.15558	-0.148000	0.10203	-2.186000	0.04087	-0.428000	0.05209	0.043000	0.21118	0.000000	0.08366	0.017000	0.10941	.	.	.	778	0.48011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	351.15	21	chr1	53917027	.	C	T	351.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=377;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0324;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.72;ReadPosRankSum=-4.250e-01;SOR=1.112	GT:AD:DP:GQ:PL	0/1:9,12:21:99:365,0,339	20	0	1	0
chr1	62555932	62555932	T	C	exonic	DOCK7	.	nonsynonymous SNV	DOCK7:NM_001271999:exon21:c.A2489G:p.K830R	Epileptic encephalopathy, early infantile, 23, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.004	B	0.000	N	1.000	D	0.515	N	1.65	T	-1.055	T	0.041	T	0.226	1.033	9.220	3.1	1.089	4.137	10.225	0.055	0.00431070796127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.589	0.06145	T	0.565	0.08991	T	0.0	0.02946	B	0.002	0.10090	B	0.000003	0.62929	N	0.102578	0.972982	0.38989	D	0.42	0.12520	N	1.65	0.27650	T	0.25	0.04456	N	0.239	0.31365	-1.0547	0.13119	T	0.041	0.17615	T	10	0.12955225	0.24652	T	0.004311	0.10467	T	0.055	0.15663	0.467	0.53891	0.198222871337	0.19423	0.3344204142035221	0.33355	0.315155590494	0.33798	0.549779772758	0.45826	T	0.079535	0.36151	T	-0.209568	0.19440	T	-0.538807	0.18414	T	0.474291622638702	0.31688	T	0.788221	0.45429	T	0.103321806	0.24422	0.1877216	0.42020	0.103321806	0.24422	0.1877216	0.42019	-5.357	0.41426	T	.	.	0.070	0.09917	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.848367	0.37596	20.5	0.96803192406212868	0.31157	0.92752	0.56459	D	AEFBI	0.390589	0.46936	N	-0.503335091311227	0.21972	1.169933	-0.299930799377377	0.28102	1.564203	0.179784182171329	0.17855	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.45	3.1	0.34780	4.264000	0.58657	0.934000	0.22801	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.1366:0.0:0.8634	10.225	0.42395	795	0.45444	.;.;.;.;.;.;.	.	.	.	.	.	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	675.98	33	chr1	62555932	.	T	C	675.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.550e-01;DP=774;ExcessHet=0.0000;FS=0.946;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=-7.790e-01;SOR=0.518	GT:AD:DP:GQ:PL	0/1:36,30:66:99:690,0,945	20	0	1	0
chr1	74706358	74706358	C	T	exonic	CRYZ	.	nonsynonymous SNV	CRYZ:NM_001134759:exon7:c.G517A:p.E173K	.	.	437	1047	36	2	0	40	0.0187441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.006	B	0.009	B	0.001	N	0.993	N	0.41	N	3.7	T	-0.967	T	0.021	T	0.172	0.172	4.927	1.91	0.504	1.680	10.032	0.036	.	0.0003	0.00379393	0.0028	9.664e-05	0.0005	0.0006	0	0.0006	0.0011	0.0179	0.002445	378	154602	rs149746412	0.0013	0.0014	0.0007	0.0020	0.0180	0.0013	0.0013	0.0173	0.0170	5.984e-05	0.0003	0.0014	0.0003	5.618e-05	0.0083	0.0002	0.0015	0.0180	0.0008	0.0009	0.0004	0.0013	0.0170	0.0007	0.0007	0.0140	0.0129	0.0001	0	0.0002	0.0009	0.0008	0	0.0068	0.0004	0.0024	0.0170	0.53	0.10909	T	0.701	0.05707	T	0.001	0.07471	B	0.001	0.04355	B	0.001396	0.39175	N	0.254298	0.998912	0.23718	N	0.505	0.13445	N	1.05	0.39990	T	-0.9	0.24244	N	0.097	0.15046	-0.9674	0.37733	T	0.021	0.08963	T	10	0.008682281	0.00197	T	.	.	.	0.036	0.09122	.	.	0.439870908748	0.43606	0.6728538042468933	0.67223	0.112942714915	0.12750	0.30759459734	0.11544	T	0.078006	0.35790	T	-0.543529	0.00319	T	-0.539238	0.18372	T	0.0046506914096409	0.00050	T	0.862114	0.59504	D	0.058851995	0.11889	0.062441003	0.12215	0.058851995	0.11888	0.062441003	0.12215	-7.303	0.58576	T	.	.	0.097	0.16756	B	.;.;.;.	.;.;.;.	1.152326	0.15405	11.83	0.86864422938112251	0.16825	0.43102	0.27024	N	AEFBI	0.073552	0.14716	N	-0.907138259915369	0.10674	0.5112207	-0.818598049181867	0.14045	0.7318515	0.172946808966609	0.17762	0.732398	0.92422	0	0.724815	0.89359	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.04	1.91	0.24841	1.368000	0.33820	1.957000	0.29917	-1.089000	0.01541	0.955000	0.33325	0.985000	0.30750	0.483000	0.28633	0.0:0.3499:0.4219:0.2281	10.032	0.41282	673	0.60677	.;Polyketide synthase, enoylreductase domain;Polyketide synthase, enoylreductase 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	3243.11	38	chr1	74706358	.	C	T	3243.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.14;DP=1010;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=1.13;SOR=0.690	GT:AD:DP:GQ:PL	0/1:54,39:93:99:988,0,1327	19	0	2	0
chr1	77935995	77935995	G	C	exonic	NEXN	.	nonsynonymous SNV	NEXN:NM_001172309:exon10:c.G1232C:p.R411T	Cardiomyopathy, dilated, 1CC, Autosomal dominant;Cardiomyopathy, hypertrophic, 20, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3414299	Hypertrophic_cardiomyopathy_2	MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.47	T	0.973	D	0.648	P	0.000	D	1.000	D	1.735	L	0.31	T	-0.963	T	0.154	T	0.348	4.133	21.3	6.03	2.868	6.514	13.716	0.138	0.0164858304763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.56456	D	0.046	0.49120	D	0.973	0.57599	D	0.585	0.50320	P	0.000023	0.55875	D	0.000000	0.905979	0.36288	D	2.015	0.55033	M	0.19	0.60236	T	-1.01	0.29933	N	0.455	0.49237	-0.9629	0.38625	T	0.154	0.48378	T	10	0.34226173	0.51261	T	0.016486	0.37771	T	0.138	0.37187	0.392	0.41606	0.693294191124	0.69065	0.13722819317445287	0.13646	0.192239442232	0.21553	0.485696047544	0.36842	T	0.018272	0.14759	T	-0.0193476	0.48946	T	-0.265568	0.48267	T	0.786236812373274	0.45445	D	0.978102	0.92255	D	0.10524542	0.24882	0.1166717	0.28166	0.10524542	0.24882	0.1166717	0.28165	-6.321	0.50449	T	0.2120513649046057	0.28444	0.679	0.72087	P	.;.	.;.	4.374991	0.67387	25.1	0.9810877380999008	0.38334	0.98337	0.81764	D	AEFBI	0.814499	0.73671	D	0.543291857114929	0.69675	5.390713	0.620374817542519	0.76421	6.487894	0.998533369466999	0.37148	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	6.641000	0.74179	8.621000	0.77811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0699:0.0:0.9301:0.0	13.716	0.62178	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	0.2105	335.55	22	chr1	77935995	.	G	C,A	335.55	.	AC=4,4;AF=0.105,0.105;AN=38;BaseQRankSum=-2.969e+00;DP=769;ExcessHet=3.5521;FS=215.270;InbreedingCoeff=-0.2726;MLEAC=4,4;MLEAF=0.105,0.105;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=0.238;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,13,0:55:19:0|1:77935995_G_C:19,0,1308,144,1342,1486:77935995	11	0	4	2
chr1	77935995	77935995	G	A	exonic	NEXN	.	nonsynonymous SNV	NEXN:NM_001172309:exon10:c.G1232A:p.R411K	Cardiomyopathy, dilated, 1CC, Autosomal dominant;Cardiomyopathy, hypertrophic, 20, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	T	0.148	B	0.021	B	0.000	D	1.000	D	0.085	N	0.45	T	-1.052	T	0.041	T	0.151	1.673	11.55	6.03	2.868	6.514	13.716	0.094	0.00665660799398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.06847	T	0.764	0.04571	T	0.091	0.25247	B	0.016	0.17743	B	0.000023	0.55875	D	0.000000	0.606987	0.32587	D	0.975	0.24501	L	0.33	0.58323	T	0.77	0.02558	N	0.142	0.18103	-1.0525	0.13709	T	0.041	0.17488	T	10	0.12635311	0.24020	T	0.006657	0.17585	T	0.094	0.27141	0.272	0.22210	0.520586239559	0.51704	0.08362847643912337	0.08296	0.0483182337376	0.05281	0.503688514233	0.39341	T	0.007706	0.07099	T	-0.128727	0.31703	T	-0.422684	0.30769	T	0.675288915634155	0.39574	D	0.80142	0.44736	T	0.070407756	0.15505	0.08730277	0.20284	0.070407756	0.15505	0.08730277	0.20284	-3.317	0.14523	T	0.06871425045942398	0.02517	0.166	0.36554	B	.;.	.;.	2.462804	0.31732	18.83	0.92583887767275952	0.22042	0.94464	0.61249	D	AEFBI	0.704557	0.66024	D	-0.142333935333806	0.35562	2.044219	0.133413881396926	0.46268	2.875634	0.998533369466999	0.37148	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	6.641000	0.74179	8.621000	0.77811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0699:0.0:0.9301:0.0	13.716	0.62178	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	0.2105	335.55	22	chr1	77935995	.	G	C,A	335.55	.	AC=4,4;AF=0.105,0.105;AN=38;BaseQRankSum=-2.969e+00;DP=769;ExcessHet=3.5521;FS=215.270;InbreedingCoeff=-0.2726;MLEAC=4,4;MLEAF=0.105,0.105;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=0.238;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,13,0:55:19:0|1:77935995_G_C:19,0,1308,144,1342,1486:77935995	11	0	4	2
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	0/1:43,26:76:99:.:.:336,0,435	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	0/1:183,116,0,0:299:99:.:.:4045,0,7033,4596,7383,11979,4596,7383,11979,11979	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	0/1:183,116,0,0:299:99:.:.:4045,0,7033,4596,7383,11979,4596,7383,11979,11979	0	12	6	0
chr1	93136807	93136807	G	A	exonic	MTF2	.	nonsynonymous SNV	MTF2:NM_001164393:exon13:c.G1256A:p.G419D	.	.	425	1076	18	3	0	24	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.001	B	0.000	D	0.999	D	0.55	N	1.96	T	-1.050	T	0.028	T	0.433	3.067	16.24	5.9	2.806	4.112	20.282	0.120	0.00401574286492	0.0008	0.00199681	0.0015	0.0002	0.0003	0	0.0002	0.0010	0	0.0061	0.0013713	212	154602	rs141738080	0.0015	0.0015	0.0013	0.0017	0.0069	0.0015	0.0014	0.0065	0.0063	0.0004	0.0003	0.0009	0	7.488e-05	0.0050	0.0013	0.0016	0.0069	0.0009	0.0009	0.0010	0.0009	0.0070	0.0008	0.0008	0.0052	0.0045	0.0002	0	0.0007	0.0009	0	0	0.0068	0.0012	0.0014	0.0070	0.308	0.26852	T	0.587	0.09175	T	0.0	0.02946	B	0.0	0.01387	B	0.000075	0.52346	D	0.176990	0.998587	0.45122	D	0	0.06538	N	1.54	0.30133	T	-0.72	0.27669	N	0.138	0.17553	-1.0501	0.14369	T	0.028	0.12103	T	10	0.004812598	0.00102	T	0.004016	0.09525	T	0.120	0.33359	.	.	0.316310170894	0.31242	0.2567057432622529	0.25584	0.377117936334	0.39146	0.604843616486	0.53588	T	0.136939	0.46959	T	-0.477519	0.00765	T	-0.455949	0.27042	T	0.0221687447915002	0.00928	T	0.815518	0.47040	T	0.18423568	0.39729	0.49373773	0.70718	0.18423568	0.39728	0.49373773	0.70719	-2.069	0.03453	T	.	.	0.096	0.15206	B	.;.;.;.	.;.;.;.	3.032618	0.40627	21.2	0.99292407325838206	0.58326	0.89745	0.50409	D	AEFBCI	0.418078	0.48586	N	-0.0993309928434743	0.37421	2.176927	0.147080332813538	0.46987	2.935897	0.999109479316504	0.38452	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	3.107000	0.50021	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.282	0.98522	388	0.83355	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	4782.68	141	chr1	93136807	.	G	A	4782.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.544;DP=1187;ExcessHet=0.3300;FS=1.108;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=0.244;SOR=0.817	GT:AD:DP:GQ:PL	0/1:85,61:146:99:1472,0,2102	18	0	3	0
chr1	94857391	94857391	C	T	exonic	SLC44A3	.	nonsynonymous SNV	SLC44A3:NM_001258342:exon9:c.C1021T:p.R341W	.	.	427	1092	3	0	0	3	0.00137174	.	.	2335109	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.983	D	0.029	N	1.000	D	2.49	M	1.93	T	-1.023	T	0.114	T	0.588	3.697	18.78	4.8	2.511	4.352	11.941	0.281	0.0260845265698	.	0.000199681	8.243e-05	0	0.0006	0	0	1.5e-05	0	0.0001	7.12e-05	11	154602	rs142721068	6.432e-05	6.43e-05	6.127e-05	6.74e-05	0.0005	5.363e-05	4.978e-05	0.0003	0.0003	0	0.0005	0	0	0	0	5.486e-05	3.312e-05	0.0001	5.253e-05	5.249e-05	5.139e-05	5.372e-05	0.0001	2.556e-05	1.829e-05	2.846e-05	1.858e-05	0	0	0.0001	0	0	0	0	7.349e-05	0.0005	0	0.003	0.68238	D	0.01	0.66756	D	0.928	0.90584	P	0.631	0.72444	P	0.029176	0.25493	N	0.289069	0.999879	0.50225	D	2.255	0.64187	M	1.93	0.22881	T	-4.5	0.78135	D	0.69	0.69562	-1.0231	0.22704	T	0.114	0.40605	T	10	0.4808336	0.60420	T	0.026085	0.49023	D	0.281	0.59861	.	.	0.382925413656	0.37900	0.3919339828726339	0.39108	0.601515710117	0.55188	0.287037789822	0.08493	T	0.064336	0.32408	T	-0.298199	0.08829	T	-0.307537	0.43924	T	0.688658177852631	0.40186	D	0.943406	0.78638	D	0.5347732	0.69102	0.4752286	0.69590	0.5347732	0.69103	0.4752286	0.69590	-6.405	0.49782	T	.	.	0.095	0.16187	B	.;.;.;.;.;.	.;.;.;.;.;.	4.656088	0.74273	26.1	0.99921024608541942	0.98721	0.96082	0.67451	D	AEFBI	0.863371	0.78189	D	0.604937583160892	0.73485	5.974019	0.538926801532796	0.70631	5.533605	0.999999999588032	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.584449	0.35598	0	.	.	4.8	4.8	0.61157	4.561000	0.60519	3.230000	0.36903	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.731000	0.35132	0.0:0.9088:0.0:0.0912	11.941	0.52186	660	0.61921	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	774.98	34	chr1	94857391	.	C	T	774.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.390e+00;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=-7.020e-01;SOR=0.648	GT:AD:DP:GQ:PL	0/1:34,33:67:99:789,0,881	20	0	1	0
chr1	99740922	99740922	C	A	exonic	FRRS1	.	nonsynonymous SNV	FRRS1:NM_001013660:exon6:c.G447T:p.K149N	.	.	436	1083	2	1	0	4	0.00184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.029	B	0.018	B	0.001	N	1.000	D	-0.115	N	.	.	-1.088	T	0.032	T	0.251	0.959	8.913	1.6	0.298	0.141	8.464	0.023	0.00449885883462	0.0035	0.00159744	0.0038	0.0008	0.0013	0	0.0029	0.0057	0.0011	0.0022	0.0036675	567	154602	rs143957192	0.0036	0.0037	0.0037	0.0035	0.0041	0.0035	0.0035	0.0040	0.0040	0.0005	0.0011	0.0042	0	0.0031	0.0016	0.0041	0.0031	0.0024	0.0024	0.0024	0.0027	0.0022	0.0042	0.0022	0.0021	0.0038	0.0036	0.0004	0.0033	0.0014	0.0032	0	0.0017	0	0.0042	0.0028	0.0015	0.307	0.14159	T	0.072	0.43344	T	0.029	0.19866	B	0.018	0.18489	B	0.001116	0.40219	N	0.291783	0.999853	0.49910	D	1.545	0.39105	L	.	.	.	-2.13	0.48354	N	0.625	0.63968	-1.0878	0.05908	T	0.032	0.13679	T	9	0.009702206	0.00218	T	0.004499	0.11063	T	0.023	0.04649	0.542	0.65446	0.248417906384	0.24464	0.4433224019779833	0.44250	0.350684773688	0.36916	0.620231509209	0.55762	T	0.008701	0.07968	T	-0.477928	0.00761	T	-0.458471	0.26767	T	0.0214701920260191	0.00851	T	0.720328	0.34608	T	0.12168684	0.28610	0.14405315	0.34213	0.12168684	0.28610	0.14405315	0.34212	-5.765	0.48493	T	.	.	0.258	0.51575	B	.;.	.;.	2.398359	0.30807	18.55	0.97307684879266398	0.33313	0.76731	0.37656	D	AEFBI	0.313158	0.41839	N	-0.70121550073186	0.15988	0.8106155	-0.534924809720609	0.21206	1.146148	0.115943515047811	0.16767	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.58	1.6	0.22686	0.362000	0.20020	-0.216000	0.10808	-0.207000	0.08511	0.998000	0.41325	0.260000	0.23977	0.888000	0.42677	0.0:0.5166:0.0:0.4834	8.464	0.32106	725	0.54935	Reeler domain|Reeler domain|Reeler 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	1881.98	35	chr1	99740922	.	C	A	1881.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.400e-01;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.70;ReadPosRankSum=-2.830e-01;SOR=0.725	GT:AD:DP:GQ:PL	0/1:53,75:128:99:1896,0,1251	20	0	1	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1488844	Glycogen_storage_disease_type_III	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.52	T	0.913	P	0.503	P	0.002	N	0.999	D	1.525	L	1.57	T	-1.113	T	0.049	T	0.261	3.205	16.73	5.8	2.216	7.642	16.134	0.081	0.00911862377621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.401e-06	7.43e-05	1.397e-06	1.405e-06	1.848e-06	2.3e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.848e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.473	0.12142	T	0.517	0.50474	P	0.109	0.47728	B	0.002293	0.36846	N	0.305907	0.99907	0.46009	D	2.045	0.56016	M	1.57	0.29342	T	-0.65	0.18877	N	0.272	0.33250	-1.1132	0.02809	T	0.049	0.20711	T	10	0.27782464	0.45351	T	0.009119	0.23988	T	0.081	0.23632	0.336	0.32491	0.479744053436	0.47606	0.606268470227836	0.60557	0.11555191635	0.13036	0.707347929478	0.68209	T	0.099441	0.40426	T	-0.125642	0.32204	T	-0.418252	0.31276	T	0.677078485488892	0.39656	D	0.937306	0.76420	D	0.20774648	0.42990	0.14135508	0.33665	0.20774648	0.42990	0.14135508	0.33664	-6.617	0.51183	T	0.20745740101029875	0.27728	0.195	0.49038	B	.;.;.;.;.	.;.;.;.;.	3.365396	0.46485	22.3	0.99621718597315734	0.75473	0.99680	0.98609	D	AEBI	0.860591	0.77848	D	0.379094507883598	0.60291	4.216405	0.481746564574198	0.66782	4.996979	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	7.619000	0.82253	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.4048	7236.94	34	chr1	99884396	.	T	C	7236.94	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-4.178e+00;DP=2325;ExcessHet=25.1139;FS=198.804;InbreedingCoeff=-0.6802;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=3.71;ReadPosRankSum=1.56;SOR=12.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,34:136:99:0|1:99884396_T_C:611,0,3781:99884396	4	0	17	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.043	B	0.045	B	0.000	D	0.997	D	0	N	1.65	T	-1.054	T	0.016	T	0.371	2.784	15.27	5.8	2.216	5.903	16.134	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.3571	4473.53	34	chr1	99884400	.	T	C	4473.53	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-3.868e+00;DP=2293;ExcessHet=17.4423;FS=183.125;InbreedingCoeff=-0.5526;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=2.55;ReadPosRankSum=1.66;SOR=12.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,34:132:99:0|1:99884396_T_C:622,0,3709:99884396	6	0	15	0
chr1	100270579	100270579	G	A	exonic	RTCA	.	nonsynonymous SNV	RTCA:NM_003729:exon4:c.G313A:p.V105I	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.018	B	0.088	B	0.000	D	1.000	D	0.62	N	.	.	-1.052	T	0.074	T	0.388	3.183	16.65	4.93	1.483	7.493	14.915	0.147	0.00263989043764	7.7e-05	0.000199681	0.0003	9.61e-05	0	0	0	5.995e-05	0.0011	0.0019	0.0002458	38	154602	rs138079620	0.0002	0.0002	9.257e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	0	0.0008	0	0	0.0002	1.529e-05	9.936e-05	0.0022	7.882e-05	7.875e-05	6.427e-05	9.402e-05	0.0019	4.495e-05	3.511e-05	0.0010	0.0007	0	0	6.543e-05	0.0006	0	0	0	0	0	0.0019	0.344	0.15149	T	0.493	0.12526	T	0.018	0.17786	B	0.088	0.29688	B	0.000025	0.55875	D	0.118754	0.999999	0.58761	D	1.06	0.26948	L	.	.	.	-0.5	0.15782	N	0.32	0.36043	-1.0524	0.13736	T	0.074	0.29992	T	9	0.021551192	0.00518	T	0.00264	0.05377	T	0.147	0.38986	.	.	0.282575091529	0.27877	0.6310646775086756	0.63040	0.0955349259462	0.10794	0.469153046608	0.34564	T	0.067258	0.33155	T	-0.318763	0.06998	T	-0.236824	0.51108	T	0.138259113334099	0.16124	T	0.89891	0.64583	D	0.06624076	0.14235	0.07087361	0.15110	0.06624076	0.14235	0.07087361	0.15110	-6.166	0.47647	T	.	.	0.113	0.26700	B	.;.	.;.	3.577839	0.50425	22.9	0.98718704023819392	0.45171	0.98532	0.83788	D	AEFBI	0.825962	0.74554	D	-0.23003120907344	0.31907	1.793907	-0.0137857400439682	0.39090	2.312615	0.999999995678541	0.74766	0.706548	0.73137	0	0.581341	0.33841	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	4.93	0.64394	7.611000	0.82163	11.722000	0.94835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0684:0.0:0.9316:0.0	14.915	0.70434	583	0.69484	RNA 3'-terminal phosphate cyclase 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	1143.98	34	chr1	100270579	.	G	A	1143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-1.263e+00;SOR=0.782	GT:AD:DP:GQ:PL	0/1:47,47:94:99:1158,0,1195	20	0	1	0
chr1	103533845	103533845	-	A	exonic	RNPC3	.	frameshift insertion	RNPC3:NM_017619:exon3:c.347dupA:p.R120Kfs*3,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	229.63	54	chr1	103533844	.	GA	G,GAA	229.63	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-4.500e-01;DP=1214;ExcessHet=1.1607;FS=2.736;InbreedingCoeff=-0.1291;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=0.93;ReadPosRankSum=-4.790e-01;SOR=0.413	GT:AD:DP:GQ:PL	0/1:41,6,0:47:26:26,0,949,149,967,1116	16	0	4	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	0/1:78,33:111:99:.:.:178,0,1733	11	0	7	3
chr1	109689279	109689279	T	C	exonic	GSTM1	.	nonsynonymous SNV	GSTM1:NM_000561:exon5:c.T314C:p.M105T	.	.	982	537	0	3	0	6	0.00555556	.	.	695968	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	0.773	P	0.459	P	0.000	U	1.000	D	2.92	M	4.54	T	-1.096	T	0.014	T	0.447	-1.045	0.201	2.02	0.419	1.179	6.059	0.162	0.00678492829244	.	.	3.588e-05	0	0	0	0	0	0.0049	0	5.17e-05	8	154602	rs202002774	5.605e-06	0.0016	5.601e-06	5.609e-06	3.859e-05	1.31e-06	8.9e-07	6.4e-06	2.39e-06	0	0	0	0	0	0	3.849e-06	0	3.859e-05	3.734e-05	0.0034	2.426e-05	5.114e-05	0.0003	9.92e-06	4.75e-06	4.63e-05	1.915e-05	0	0	0.0003	0	0	0.0002	0	0	0	0	0.057	0.39097	T	0.284	0.22084	T	0.773	0.44016	P	0.459	0.46380	P	0.000002	0.62929	U	0.055508	0.989061	0.81001	D	3.345	0.91022	M	4.54	0.03809	T	-5.25	0.84035	D	0.412	0.49146	-1.0963	0.04569	T	0.014	0.05465	T	10	0.3916999	0.54938	T	0.006785	0.17925	T	0.162	0.41843	.	.	0.221734844693	0.21761	0.5243859957062466	0.52362	1.16759706748	0.79672	0.455572098494	0.32704	T	0.314375	0.68606	T	-0.100377	0.36361	T	-0.381961	0.35493	T	0.258686060816388	0.23258	T	0.424358	0.12156	T	0.74832326	0.80771	0.5330875	0.73020	0.74832326	0.80772	0.5330875	0.73021	-6.657	0.62168	T	.	.	0.286	0.51840	B	.;.;.;.;.	.;.;.;.;.	1.642350	0.20957	14.99	0.69312899407550344	0.08932	0.77746	0.38263	D	AEFGBI	0.250440	0.37048	N	-0.312240552772623	0.28683	1.584075	-0.430811864685018	0.24098	1.317746	0.846920786302177	0.24971	0.660085	0.49399	0	0.662677	0.63036	0	0.693144	0.63139	0	0.564101	0.26826	0	.	.	3.17	2.02	0.25641	1.663000	0.37045	-0.229000	0.10694	0.660000	0.55035	1.000000	0.71638	0.001000	0.17328	0.021000	0.11733	0.0:0.1286:0.0:0.8714	6.059	0.19054	824	0.40336	Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;.	.	.	.	.	chr1:110231901	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	0.2	98.5	307	chr1	109689279	.	T	C	98.5	.	AC=4;AF=0.200;AN=20;DP=307;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.8135;MLEAC=4;MLEAF=0.200;MQ=56.67;QD=23.96;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,1:1:3:.:.:25,3,0	8	2	0	11
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	0/2:74,10,9:93:48:48,49,1747,0,1584,1689	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	0/2:74,10,9:93:48:48,49,1747,0,1584,1689	12	0	8	0
chr1	114139664	114139664	G	A	exonic	SYT6	.	nonsynonymous SNV	SYT6:NM_001253772:exon2:c.C463T:p.R155C	.	.	434	1053	34	1	0	36	0.0168067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.786	P	0.000	D	1.000	D	2.015	M	1.37	T	-0.572	T	0.243	T	0.917	4.416	23.4	5.49	2.583	3.826	15.046	0.315	.	0.0008	0.00359425	0.0038	0	0.0025	0.0008	0	0.0014	0.0055	0.0202	0.0033441	517	154602	rs144510124	0.0022	0.0022	0.0016	0.0028	0.0210	0.0021	0.0021	0.0202	0.0198	0.0002	0.0016	0.0011	0.0001	7.488e-05	0.0087	0.0010	0.0024	0.0210	0.0014	0.0014	0.0012	0.0017	0.0191	0.0013	0.0012	0.0160	0.0148	0.0002	0	0.0013	0.0017	0.0002	0	0.0034	0.0012	0.0043	0.0191	0.029	0.45756	D	0.048	0.79402	D	0.998	0.73220	D	0.786	0.57542	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.44	0.70756	M	0.27	0.59176	T	-2.81	0.59389	D	0.674	0.70615	-0.5722	0.65927	T	0.243	0.61166	T	10	0.0058371425	0.00130	T	.	.	.	0.315	0.63694	.	.	0.863481631396	0.86215	0.6045719063240254	0.60388	0.585778978891	0.54207	0.660595178604	0.61495	T	0.055268	0.29957	T	-0.0418585	0.45672	T	0.182692	0.82151	D	0.0655522304578806	0.08013	T	0.978302	0.92553	D	0.3139685	0.54127	0.169706	0.39025	0.3139685	0.54127	0.169706	0.39024	-7.384	0.65962	T	.	.	0.167	0.67128	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.202704	0.87283	29.2	0.99915425814779713	0.98379	0.91563	0.53791	D	AEFDBCI	0.824681	0.74453	D	0.661367253560518	0.77107	6.61134	0.66266922490195	0.79555	7.107713	0.99999152714281	0.74766	0.719381	0.83141	0	0.59043	0.45803	0	0.723133	0.82415	0	0.542086	0.14980	0	.	.	5.49	5.49	0.81022	3.918000	0.56144	11.927000	0.99878	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8574:0.1426	15.046	0.71491	205	0.92010	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1236.98	38	chr1	114139664	.	G	A	1236.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.50;DP=801;ExcessHet=0.0000;FS=5.660;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.55;ReadPosRankSum=-1.039e+00;SOR=0.290	GT:AD:DP:GQ:PL	0/1:40,45:85:99:1251,0,922	20	0	1	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	0/1:99,54:167:99:333,0,1260	0	0	21	0
chr1	115992218	115992218	G	C	exonic	SLC22A15	.	nonsynonymous SNV	SLC22A15:NM_018420:exon2:c.G275C:p.S92T,	.	.	426	1085	11	0	0	11	0.00504356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.015	B	0.049	B	0.013	N	0.999	N	0.2	N	0.34	T	-1.014	T	0.108	T	0.198	2.279	13.58	4.01	1.068	2.104	9.859	0.067	0.017430854785	0.0054	0.00139776	0.0052	0.0017	0.0024	0	0.0013	0.0064	0.0033	0.0072	0.004379	677	154602	rs185420236	0.0062	0.0062	0.0063	0.0061	0.0072	0.0061	0.0061	0.0070	0.0070	0.0007	0.0015	0.0016	5.124e-05	0.0012	0.0061	0.0072	0.0039	0.0070	0.0039	0.0039	0.0045	0.0033	0.0065	0.0036	0.0035	0.0060	0.0058	0.0015	0.0066	0.0024	0.0023	0	0.0006	0.0068	0.0065	0.0028	0.0056	0.127	0.32610	T	0.535	0.11004	T	0.015	0.17086	B	0.049	0.25116	B	0.013020	0.28981	N	0.422522	0.999069	0.21661	N	0.35	0.11930	N	-1.08	0.77078	T	-1.25	0.32185	N	0.24	0.27077	-1.0136	0.25784	T	0.108	0.39172	T	10	0.007766038	0.00176	T	0.017431	0.39125	T	0.067	0.19503	.	.	0.291694819147	0.28783	0.28550130682985747	0.28463	0.208021027618	0.23268	0.287762522697	0.08596	T	0.010145	0.09188	T	-0.422596	0.01647	T	-0.373409	0.36491	T	0.0104857532945679	0.00145	T	0.829717	0.49530	T	0.0754271	0.16994	0.085678324	0.19800	0.0754271	0.16993	0.085678324	0.19799	-4.615	0.34240	T	.	.	0.093	0.13830	B	.;.	.;.	2.294512	0.29350	18.10	0.97402695927089666	0.33780	0.94069	0.60019	D	AEFBI	0.307596	0.41442	N	-0.356949138755218	0.27017	1.47906	-0.15556050550482	0.33195	1.896336	0.895792491277381	0.25962	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.19	4.01	0.45821	2.427000	0.44397	4.578000	0.43908	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1193:0.0:0.8807:0.0	9.859	0.40272	892	0.26670	Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	2263.68	33	chr1	115992218	.	G	C	2263.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.806e+00;DP=892;ExcessHet=0.3300;FS=0.616;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=1.00;SOR=0.749	GT:AD:DP:GQ:PL	0/1:47,29:76:99:768,0,1372	18	0	3	0
chr1	145872428	145872428	C	T	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G2071A:p.A691T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.998	D	0.963	D	0.000	D	1.000	D	1.79	L	0.53	T	-0.901	T	0.193	T	0.224	4.029	20.7	5.22	2.703	4.141	14.149	0.135	0.00128427879181	.	.	1.055e-05	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs782724338	4.109e-06	4.788e-06	2.725e-06	5.508e-06	6.979e-05	1.48e-06	9.7e-07	3.003e-05	2.043e-05	0	0	0	0	0	0	0	0	6.979e-05	6.575e-06	6.569e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.041	0.41915	D	0.023	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	0.55090	T	-1.25	0.31576	N	0.47	0.52563	.	.	.	.	.	.	.	0.30376267	0.47905	T	.	.	.	.	.	.	.	.	.	0.13036519158414628	0.12961	.	.	.	.	.	0.029237	0.20994	T	.	.	.	.	.	.	.	.	.	0.834417	0.50357	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25624	B	.;.	.;.	3.609152	0.51017	23.0	.	.	.	.	.	.	0.379761	0.46266	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.919000	0.28312	7.649000	0.63599	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.790000	0.37311	.	.	.	.	.	.;.	.	.	.	.	.	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	1423.98	57	chr1	145872428	.	C	T	1423.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.600e-02;DP=1233;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=-1.416e+00;SOR=0.728	GT:AD:DP:GQ:PL	0/1:43,56:99:99:1438,0,1037	20	0	1	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	2354.68	101	chr1	145872713	.	C	G	2354.68	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-3.628e+00;DP=2761;ExcessHet=20.9642;FS=143.279;InbreedingCoeff=-0.5874;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=1.11;ReadPosRankSum=0.894;SOR=12.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:113,29:142:26:.:.:26,0,2456	5	0	16	0
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	0/1:366,128:494:99:2166,0,9775	1	0	20	0
chr1	149476000	149476000	C	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.C68A:p.T23K,	.	.	439	1070	13	0	0	13	0.00603809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.914e-06	0.0001	6.637e-06	3.234e-06	3.197e-05	1.77e-06	1.16e-06	1.05e-06	7.1e-07	3.197e-05	2.263e-05	0	0	0	0	4.47e-06	0	0	0.0002	0.0020	0.0001	0.0002	0.0005	0.0001	0.0001	0.0001	9.567e-05	4.942e-05	0	6.976e-05	0.0012	0.0004	0.0001	0	0.0002	0	0.0005	.	.	.	0.238	0.24549	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.136	0.15046	-0.9732	0.36518	T	0.000	0.00152	T	7	0.041458398	0.02803	T	2.1E-4	0.00005	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.001534	0.00977	T	-0.258436	0.13083	T	-0.609002	0.12066	T	0.0377450288243948	0.03287	T	0.49745	0.15470	T	0.038046084	0.04993	0.06475348	0.13026	0.038046084	0.04992	0.06475348	0.13026	-1.143	0.01172	T	.	.	0.050	0.00130	B	.;.;.	.;.;.	-0.436196	0.02080	0.193	0.30157414338663457	0.01635	0.00027	0.00265	N	AEFDBHCIJ	.	.	.	-1.71877720489443	0.00777	0.03357492	-1.76073307947	0.00893	0.03994536	0.999999413893899	0.74766	0.675202	0.55065	0	0.008208	0.00037	3	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.21	-0.139	0.12803	-0.024000	0.12382	-0.148000	0.11448	-0.613000	0.04580	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.416:0.2945:0.0:0.2895	2.171	0.03615	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	676.01	33	chr1	149476000	.	C	A	676.01	.	AC=6;AF=0.143;AN=42;BaseQRankSum=5.27;DP=1964;ExcessHet=1.7912;FS=25.359;InbreedingCoeff=-0.1663;MLEAC=6;MLEAF=0.143;MQ=33.27;MQRankSum=-4.079e+00;QD=0.61;ReadPosRankSum=-3.831e+00;SOR=4.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,18:201:99:0|1:149475995_C_T:109,0,7526:149475995	15	0	6	0
chr1	149476006	149476006	G	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.G74A:p.R25H,	.	.	440	1066	16	0	0	16	0.00744879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450463980	0.0016	0.0064	0.0017	0.0015	0.0019	0.0016	0.0016	0.0018	0.0018	0.0005	0.0005	0.0016	0.0009	0.0014	0.0015	0.0019	0.0015	0.0006	0.0005	0.0024	0.0004	0.0005	0.0004	0.0004	0.0003	0.0003	0.0003	0.0004	0	0.0003	0.0009	0.0002	0.0014	0	0.0004	0	0.0002	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.126	0.11912	-0.9534	0.40380	T	0.005	0.01578	T	9	0.034075946	0.01603	T	5.6E-4	0.00221	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.015807	0.13185	T	-0.346532	0.04948	T	-0.735546	0.04081	T	0.0515061975916717	0.05762	T	0.772023	0.40277	T	0.024656914	0.01319	0.043804567	0.05533	0.024656914	0.01319	0.043804567	0.05532	-6.957	0.53720	T	.	.	0.096	0.15160	B	.;.;.	.;.;.	0.628899	0.09975	6.729	0.91245755014531849	0.20504	0.00546	0.02508	N	AEFDBHCIJ	.	.	.	-1.10416153052003	0.06569	0.3027576	-1.28977332957077	0.04568	0.2157507	0.999999577828503	0.74766	0.675202	0.55065	0	0.67197	0.64623	0	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.06	-1.67	0.07798	-1.475000	0.02441	-15.955000	0.00333	-0.714000	0.03913	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.413:0.0:0.587:0.0	4.485	0.11196	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	1239.33	33	chr1	149476006	.	G	A	1239.33	.	AC=6;AF=0.143;AN=42;BaseQRankSum=4.74;DP=2230;ExcessHet=1.7912;FS=23.772;InbreedingCoeff=-0.1703;MLEAC=6;MLEAF=0.143;MQ=33.76;MQRankSum=-3.934e+00;QD=1.06;ReadPosRankSum=-4.403e+00;SOR=3.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,22:209:99:0|1:149475995_C_T:191,0,7608:149475995	15	0	6	0
chr1	149967417	149967417	G	T	exonic	OTUD7B	.	nonsynonymous SNV	OTUD7B:NM_020205:exon4:c.C379A:p.P127T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.977	D	0.821	P	0.000	D	1.000	D	1.04	L	1.59	T	-1.151	T	0.074	T	0.401	2.528	14.41	5.14	2.672	7.412	17.770	0.172	0.0106752715334	.	.	1.657e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs781926290	3.42e-06	3.42e-06	2.723e-06	4.125e-06	5.797e-05	1e-06	7.3e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421	0.09806	T	0.448	0.13030	T	0.977	0.58535	D	0.821	0.59116	P	0.000014	0.62929	D	0.115143	0.999772	0.48980	D	1.895	0.50365	L	1.53	0.30401	T	-1.9	0.44284	N	0.533	0.56145	-1.1511	0.00992	T	0.074	0.29928	T	9	0.3113083	0.48602	T	0.010675	0.27473	T	0.172	0.43662	0.331	0.31681	0.576807342058	0.57349	0.5381415102137146	0.53739	.	.	0.505509018898	0.39595	T	0.050265	0.28546	T	-0.21539	0.18625	T	-0.365641	0.37399	T	0.620221138000488	0.37215	D	0.90111	0.65631	D	0.24540749	0.47499	0.27442563	0.53371	0.24540749	0.47499	0.27442563	0.53370	-2.812	0.08294	T	.	.	0.080	0.07889	B	.;.	.;.	3.963249	0.58142	23.9	0.97043199739254848	0.32117	0.99089	0.91063	D	AEFDBI	0.884291	0.81386	D	0.586418893873208	0.72326	5.788201	0.627242968026024	0.76924	6.581796	0.999999999938486	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.14	5.14	0.70008	7.735000	0.83874	11.839000	0.97761	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.770	0.88400	249	0.90233	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1299.98	34	chr1	149967417	.	G	T	1299.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.689e+00;DP=824;ExcessHet=0.0000;FS=3.236;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.40;ReadPosRankSum=1.65;SOR=0.991	GT:AD:DP:GQ:PL	0/1:69,56:125:99:1314,0,1797	20	0	1	0
chr1	151408482	151408482	A	G	exonic	POGZ	.	nonsynonymous SNV	POGZ:NM_145796:exon12:c.T1876C:p.S626P	White-Sutton syndrome, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	2207559	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.36	T	0.0	B	0.003	B	0.045	N	0.571	N	-0.345	N	5.85	T	-0.991	T	0.012	T	0.42	1.692	11.62	3.26	1.850	1.772	7.148	0.109	0.00272430835898	.	.	1.657e-05	0	8.651e-05	0	0	1.506e-05	0	0	1.29e-05	2	154602	rs763617685	1.803e-05	1.779e-05	1.518e-05	2.091e-05	3.627e-05	1.255e-05	1.066e-05	1.301e-05	1.111e-05	0	2.714e-05	0	0	0	0	1.987e-05	0	3.627e-05	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.301	0.20381	T	0.194	0.28210	T	0.0	0.02946	B	0.002	0.08700	B	0.045185	0.23562	N	0.369814	0.710214	0.31181	N	-0.205	0.04094	N	5.82	0.32238	T	-0.36	0.17417	N	0.374	0.51048	-0.9905	0.32475	T	0.012	0.04558	T	10	0.04950154	0.04550	T	0.002724	0.05608	T	0.109	0.30843	0.191	0.10171	0.491561328709	0.48789	0.5274958808770265	0.52673	0.910079391451	0.71022	0.428018271923	0.28938	T	0.020894	0.16365	T	-0.226188	0.17155	T	-0.452621	0.27407	T	0.0722014821200751	0.08957	T	0.792121	0.43364	T	0.05940633	0.12068	0.09387279	0.22194	0.05940633	0.12068	0.09387279	0.22193	-3.491	0.16741	T	0.14844843224063575	0.17283	0.070	0.07318	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.777035	0.36468	20.3	0.98937438882391671	0.48864	0.44941	0.27429	N	AEFBI	0.061117	0.11662	N	-0.436688613050537	0.24192	1.304624	-0.235541369631629	0.30272	1.703065	0.0263396405864073	0.13706	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.42	3.26	0.36471	1.002000	0.29397	4.837000	0.45250	0.756000	0.94297	0.997000	0.40164	1.000000	0.68203	0.979000	0.57723	0.8807:0.0:0.1193:0.0	7.148	0.24770	194	0.92479	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	3202.98	41	chr1	151408482	.	A	G	3202.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.081;DP=1068;ExcessHet=0.0000;FS=1.717;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=-2.970e-01;SOR=0.823	GT:AD:DP:GQ:PL	0/1:132,115:247:99:3217,0,3518	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|2:288,0,35:323:99:1|0:152214800_C_T:572,1439,13373,0,11934,11829:152214800	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|2:288,0,35:323:99:1|0:152214800_C_T:572,1439,13373,0,11934,11829:152214800	8	0	3	0
chr1	152306427	152306427	G	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.C8459T:p.T2820I,	Ichthyosis vulgaris, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.061	B	0.018	B	.	.	1.000	N	2.35	M	4.68	T	-0.960	T	0.003	T	0.133	0.796	8.192	-2.04	-0.608	0.711	3.295	0.026	0.000719760882908	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465525679	4.105e-06	6.841e-06	4.084e-06	4.126e-06	4.496e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	.	.	.	0.061	0.23190	B	0.018	0.18489	B	.	.	.	.	1	0.08975	N	2.64	0.77224	M	4.68	0.01715	T	-0.88	0.23808	N	0.097	0.07811	-0.9596	0.39255	T	0.003	0.00897	T	9	0.0872162	0.14902	T	7.2E-4	0.00472	T	0.026	0.05648	0.362	0.36711	0.16115917748	0.15686	0.09577149920817929	0.09509	.	.	0.298369050026	0.10158	T	0.043592	0.26550	T	-0.299514	0.08706	T	-0.668008	0.07736	T	0.058892027736465	0.06993	T	0.524848	0.17228	T	0.04967819	0.08859	0.046018817	0.06320	0.04967819	0.08858	0.046018817	0.06320	-9.015	0.67794	D	.	.	0.355	0.56920	A	.	.	0.390213	0.07619	4.281	0.80796410261779272	0.13373	0.00796	0.03248	N	AEFI	0.026495	0.01998	N	-1.19410758923222	0.05089	0.2311648	-1.34672006186955	0.03844	0.1801708	2.01701730624555E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.08	-2.04	0.06937	-0.140000	0.10323	.	.	0.470000	0.21925	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2358:0.0:0.459:0.3052	3.295	0.06554	561	0.71236	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	4242.98	73	chr1	152306427	.	G	A	4242.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.746e+00;DP=6383;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.40;MQRankSum=2.70;QD=4.27;ReadPosRankSum=0.287;SOR=0.674	GT:AD:DP:GQ:PL	0/1:767,227:994:99:4257,0,22321	20	0	1	0
chr1	152308312	152308312	T	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A6574G:p.K2192E,	Ichthyosis vulgaris, Autosomal dominant	.	0	796	719	6	1	732	0.314679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-1.1	N	4.69	T	-0.977	T	0.001	T	0.055	0.459	6.492	1.99	-0.043	0.245	5.49	0.020	0.00691589360876	.	.	0.0001	0	0	0	0	7.497e-05	0.0011	0.0005	3.84e-05	1	26028	rs66954353	6.506e-05	6.501e-05	5.314e-05	7.711e-05	0.0003	5.434e-05	5.047e-05	0.0002	0.0001	0	0	0	0	0	0.0003	6.12e-05	6.632e-05	0.0002	3.965e-05	3.949e-05	5.161e-05	2.709e-05	8.841e-05	1.723e-05	1.135e-05	3.769e-05	2.58e-05	0	0	0	0	0	0	0	8.841e-05	0	0	0.358	0.11994	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.41	0.02942	N	4.69	0.01694	T	0.47	0.03090	N	0.081	0.05670	-0.9769	0.35705	T	0.001	0.00188	T	9	0.027516663	0.00896	T	0.006916	0.18289	T	0.020	0.03691	0.3	0.26683	0.130388298395	0.12655	0.016309325306619656	0.01586	.	.	0.271451950073	0.06331	T	0.020219	0.15960	T	-0.62899	0.00097	T	-0.830759	0.01249	T	0.0464902013553936	0.04873	T	0.277072	0.04771	T	0.060441438	0.12404	0.05331553	0.08958	0.060441438	0.12404	0.05331553	0.08957	-3.692	0.19200	T	.	.	0.087	0.11124	B	.	.	0.351483	0.07246	3.845	0.59927330293800163	0.06340	0.00148	0.00897	N	AEFBI	0.014498	0.00233	N	-1.55397975177907	0.01512	0.06600387	-1.49818149083929	0.02359	0.1083893	1.85635635730227E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.99	1.99	0.25423	-0.351000	0.07760	.	.	-1.790000	0.00639	0.000000	0.06391	0.004000	0.18990	0.000000	0.00833	0.0:0.2239:0.546:0.2301	5.49	0.16063	563	0.71062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	79746.79	67	chr1	152308312	.	T	G,C	79746.79	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-5.400e-01;DP=8463;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=10,1;MLEAF=0.238,0.024;MQ=58.40;MQRankSum=-1.301e+01;QD=10.85;ReadPosRankSum=2.95;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:543,248,0:791:99:0|1:152308260_T_C:5587,0,18425,7217,19170,26387:152308260	10	0	10	0
chr1	152311446	152311446	T	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A3440G:p.E1147G,	Ichthyosis vulgaris, Autosomal dominant	.	0	1515	6	1	0	8	0.00263331	.	.	1195862	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.002	B	.	.	1.000	N	2.295	M	6.22	T	-0.970	T	0.001	T	0.114	1.035	9.227	-6.37	-0.763	-1.372	4.579	0.020	0.00163556126932	0.0028	0.00119808	0.0021	0.0003	0.0011	0	0.0012	0.0030	0.0011	0.0023	0.0019728	305	154602	rs145475870	0.0028	0.0028	0.0028	0.0028	0.0029	0.0027	0.0027	0.0028	0.0028	0.0002	0.0014	0.0104	0	0.0009	0.0026	0.0029	0.0032	0.0024	0.0021	0.0021	0.0024	0.0019	0.0034	0.0020	0.0019	0.0030	0.0029	0.0004	0	0.0008	0.0112	0	0.0009	0.0034	0.0034	0.0038	0.0023	0.538	0.06847	T	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.49	0.37298	L	6.22	0.00570	T	0.43	0.03297	N	0.166	0.17553	-0.9703	0.37136	T	0.001	0.00318	T	9	0.005218327	0.00114	T	0.001636	0.02651	T	0.020	0.03691	.	.	0.112648838833	0.10856	0.026040268763220364	0.02555	.	.	0.237665683031	0.02584	T	0.014643	0.12428	T	-0.674151	0.00052	T	-0.745138	0.03678	T	0.00104015524372053	0.00010	T	0.315368	0.06236	T	0.03147295	0.02992	0.042114966	0.04942	0.03147295	0.02992	0.042114966	0.04941	-7.318	0.56323	T	.	.	0.138	0.30184	B	.	.	0.405814	0.07770	4.455	0.83139073754502302	0.14563	0.00424	0.02089	N	AEFGBI	0.028468	0.02513	N	-1.19945814060359	0.05009	0.2273578	-1.37916249859504	0.03475	0.1621651	0.00853338673045173	0.11694	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.45	-6.37	0.01790	-0.633000	0.05581	.	.	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3949:0.3169:0.2882	4.579	0.11646	590	0.68897	.	.	.	.	.	.	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	6205.98	40	chr1	152311446	.	T	C	6205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.232e+00;DP=4480;ExcessHet=0.0000;FS=2.451;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.35;MQRankSum=2.51;QD=14.74;ReadPosRankSum=1.16;SOR=0.912	GT:AD:DP:GQ:PL	0/1:193,228:421:99:6220,0,5353	20	0	1	0
chr1	152910506	152910506	C	0	exonic	IVL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	10818.93	25	chr1	152910506	.	C	CAGCAGCAGGAGGGGCAGCTGGAGCTCTCTG,G,*	10818.93	.	AC=18,2,2;AF=0.474,0.053,0.053;AN=38;BaseQRankSum=-2.960e-01;DP=998;ExcessHet=1.5433;FS=1.193;InbreedingCoeff=-0.0466;MLEAC=19,2,2;MLEAF=0.500,0.053,0.053;MQ=55.69;MQRankSum=0.00;QD=23.78;ReadPosRankSum=-1.521e+00;SOR=0.793	GT:AD:DP:GQ:PL	1/1:0,30,0,0:30:86:1211,86,0,1214,90,1218,1214,90,1218,1218	3	4	8	2
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.992	D	0.986	D	0.000	D	0.999	D	1.31	L	.	.	-0.865	T	0.172	T	0.819	4.131	21.3	2.28	0.340	1.167	8.751	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	2593.87	40	chr1	153760378	.	C	G	2593.87	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.650e+00;DP=2714;ExcessHet=17.4423;FS=282.183;InbreedingCoeff=-0.5203;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.34;ReadPosRankSum=0.949;SOR=11.919	GT:AD:DP:GQ:PL	0/1:88,54:146:99:293,0,1143	6	0	15	0
chr1	154869726	154869726	-	GCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGC:p.Q80_P81insQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/2:0,3,40,0,0,0,0:43:15:2369,1472,1325,165,15,0,2018,1444,167,1911,2018,1444,167,1911,1911,2018,1444,167,1911,1911,1911,2018,1444,167,1911,1911,1911,1911	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs746397332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/2:0,3,40,0,0,0,0:43:15:2369,1472,1325,165,15,0,2018,1444,167,1911,2018,1444,167,1911,1911,2018,1444,167,1911,1911,1911,2018,1444,167,1911,1911,1911,1911	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/2:0,3,40,0,0,0,0:43:15:2369,1472,1325,165,15,0,2018,1444,167,1911,2018,1444,167,1911,1911,2018,1444,167,1911,1911,1911,2018,1444,167,1911,1911,1911,1911	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGC:p.Q80_P81insQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/2:0,3,40,0,0,0,0:43:15:2369,1472,1325,165,15,0,2018,1444,167,1911,2018,1444,167,1911,1911,2018,1444,167,1911,1911,1911,2018,1444,167,1911,1911,1911,1911	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/2:0,3,40,0,0,0,0:43:15:2369,1472,1325,165,15,0,2018,1444,167,1911,2018,1444,167,1911,1911,2018,1444,167,1911,1911,1911,2018,1444,167,1911,1911,1911,1911	0	1	0	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|2:73,0,10:83:47:0|1:156011822_G_C:47,265,3019,0,2754,2725:156011822	3	0	10	7
chr1	156011827	156011827	G	A	exonic	SSR2	.	stopgain	SSR2:NM_003145:exon5:c.C424T:p.R142X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	3.843	19.52	3.24	0.516	1.520	12.276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.942	0.94904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574913	0.96804	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.	High;High;.	9.926211	0.99439	44	0.99213921751579504	0.55685	0.88238	0.48077	D	AEFGBI	0.118731	0.23204	N	0.572417952431753	0.71458	5.653797	0.410843908091509	0.62240	4.436054	0.999968225531357	0.48965	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.55	3.24	0.36257	1.712000	0.37560	0.938000	0.22831	0.618000	0.50648	1.000000	0.71638	0.996000	0.32793	0.982000	0.59238	0.0:0.0:0.6097:0.3903	12.276	0.54054	196	0.92420	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	423.11	36	chr1	156011827	.	G	A	423.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.019e+00;DP=1075;ExcessHet=0.1072;FS=184.231;InbreedingCoeff=-0.0501;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=2.20;ReadPosRankSum=-7.000e-03;SOR=7.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,10:83:46:0|1:156011822_G_C:46,0,2763:156011822	19	0	2	0
chr1	156842411	156842411	C	T	exonic	INSRR	.	nonsynonymous SNV	INSRR:NM_014215:exon18:c.G3224A:p.R1075Q,	.	.	155	1357	9	1	0	11	0.0040367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.992	D	0.298	B	0.001	D	1.000	D	.	.	-2.52	D	-0.073	T	0.447	T	0.498	4.377	23.1	3.65	1.121	7.651	12.600	0.625	0.530135003983	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs779010804	3.968e-05	3.967e-05	2.45e-05	5.501e-05	0.0004	3.113e-05	2.847e-05	0.0003	0.0003	2.987e-05	6.708e-05	0	0	0	0.0002	1.259e-05	4.968e-05	0.0004	2.63e-05	2.627e-05	0	5.384e-05	0.0006	8.15e-06	5.14e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.0	0.91255	D	0.0	0.92824	D	0.992	0.64738	D	0.298	0.40966	B	0.000694	0.42383	D	0.000000	1	0.81001	D	1.865	0.49290	L	-2.52	0.89363	D	-3.41	0.67129	D	0.731	0.73195	-0.0735	0.80698	T	0.447	0.78270	T	9	0.8461727	0.83783	D	0.530135	0.95576	D	0.625	0.85511	0.7	0.83684	0.919419809122	0.91860	0.5411205017019208	0.54037	0.33824194443	0.35799	0.676180481911	0.63722	T	0.683576	0.90733	D	-0.055374	0.43628	T	-0.0251686	0.68689	D	0.429471105337143	0.30041	T	0.994238	0.98092	D	0.7951944	0.83600	0.827919	0.90049	0.7951944	0.83602	0.827919	0.90050	-9.951	0.73618	D	.	.	0.883	0.81647	P	.	.	5.269679	0.88479	29.6	0.99952082681827326	0.99951	0.98770	0.86628	D	AEFDGBI	0.930834	0.91874	D	0.338215565054526	0.58119	3.982545	0.344001442538259	0.58147	3.983635	0.993390734881326	0.33198	0.59774	0.34471	0	0.59043	0.45803	0	0.563428	0.18855	0	0.63947	0.58350	0	.	.	4.58	3.65	0.40985	7.905000	0.86479	7.638000	0.63056	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.997000	0.79791	0.1673:0.8327:0.0:0.0	12.600	0.55846	706	0.57215	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1419.98	33	chr1	156842411	.	C	T	1419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=843;ExcessHet=0.0000;FS=3.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-6.500e-02;SOR=1.055	GT:AD:DP:GQ:PL	0/1:62,52:114:99:1434,0,1650	20	0	1	0
chr1	156881533	156881533	G	A	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001012331:exon16:c.G2264A:p.R755Q	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	YES	0	1513	8	1	0	10	0.00329381	.	.	1540658	Hereditary_insensitivity_to_pain_with_anhidrosis|not_provided	MONDO:MONDO:0009746,MedGen:C0020074,OMIM:256800,Orphanet:642|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.38	T	0.013	B	0.004	B	0.012	N	0.929	D	-0.035	N	-1.59	D	-0.952	T	0.135	T	0.372	2.609	14.68	4.11	1.312	0.352	6.933	0.210	0.00686803336614	.	0.000199681	0.0003	0.0002	0	0	0	3.608e-05	0	0.0013	0.0001488	23	154602	rs201891311	0.0001	0.0002	8.079e-05	0.0002	0.0019	0.0001	0.0001	0.0017	0.0016	0.0001	0	0	0	0	0.0009	2.709e-05	0.0002	0.0019	0.0001	0.0001	3.853e-05	0.0002	0.0027	8.16e-05	6.717e-05	0.0016	0.0013	0.0001	0	0	0	0	0	0	1.47e-05	0	0.0027	0.228	0.18434	T	0.161	0.34359	T	0.0	0.07471	B	0.001	0.04355	B	0.012257	0.29238	N	0.238545	0.683508	0.36925	D	0.905	0.23240	L	-1.59	0.82076	D	-0.4	0.13805	N	0.202	0.22357	-0.9518	0.40660	T	0.135	0.44971	T	10	0.023714691	0.00629	T	0.006868	0.18177	T	0.210	0.50028	.	.	0.849743943647	0.84829	0.19415647910783967	0.19333	0.28510221178	0.30919	0.453783094883	0.32461	T	0.490972	0.81554	T	-0.31998	0.06898	T	-0.262484	0.48575	T	0.0603199895046071	0.07220	T	0.892211	0.62852	D	0.15947026	0.35821	0.076693565	0.17011	0.15947026	0.35821	0.076693565	0.17011	-6.509	0.51584	T	0.03449484710576937	0.00169	0.061	0.01179	B	.;.;.;.	.;.;.;.	2.901991	0.38468	20.7	0.9975512330473294	0.84615	0.69825	0.34342	D	AEFBI	0.221864	0.34643	N	-0.40528812998552	0.25284	1.371341	-0.195597362527002	0.31697	1.79633	0.767584462925001	0.23615	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.04	4.11	0.47350	0.095000	0.14966	4.774000	0.44793	0.676000	0.76740	0.934000	0.32416	1.000000	0.68203	0.998000	0.85391	0.2606:0.0:0.7394:0.0	6.933	0.23628	530	0.73653	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/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	1	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	chr1	156881533	.	G	A	1041.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.965e+00;DP=796;ExcessHet=0.0000;FS=4.638;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.39;ReadPosRankSum=-5.600e-02;SOR=0.694	GT:AD:DP:GQ:PL	0/1:61,50:111:99:1056,0,1496	20	0	1	0
chr1	157547071	157547071	C	T	exonic	FCRL5	.	nonsynonymous SNV	FCRL5:NM_001195388:exon3:c.G179A:p.R60Q	.	.	420	1081	20	1	0	22	0.0100733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.861	P	0.145	B	.	.	1.000	N	1.1	L	4.1	T	-0.909	T	0.001	T	0.055	-0.111	3.458	-5.18	-1.708	-1.747	0.472	0.013	.	0.0033	0.00439297	0.0060	0.0009	0.0050	0	0.0076	0.0067	0.0099	0.0097	0.0056403	872	154602	rs149742136	0.0060	0.0060	0.0059	0.0061	0.0099	0.0059	0.0058	0.0092	0.0090	0.0007	0.0042	0.0051	2.519e-05	0.0083	0.0099	0.0060	0.0059	0.0098	0.0047	0.0047	0.0042	0.0052	0.0114	0.0044	0.0043	0.0090	0.0081	0.0012	0.0274	0.0035	0.0060	0	0.0081	0.0034	0.0061	0.0038	0.0114	0.512	0.12265	T	0.453	0.14456	T	0.033	0.47410	B	0.003	0.33871	B	.	.	.	.	1	0.08975	N	1.155	0.29575	L	4.1	0.02944	T	-0.23	0.10656	N	0.118	0.11626	-0.9087	0.47013	T	0.001	0.00467	T	9	0.014747232	0.00310	T	.	.	.	0.013	0.01715	.	.	0.0551355673512	0.04727	0.15660826637190778	0.15581	0.0767185883067	0.08613	0.183486670256	0.00130	T	4.62E-4	0.00164	T	-0.724556	0.00026	T	-0.805589	0.01767	T	0.00557405409815504	0.00061	T	0.351565	0.07865	T	0.011862541	0.00023	0.024080543	0.00423	0.011862541	0.00023	0.024080543	0.00423	-6.279	0.48556	T	.	.	0.083	0.10787	B	.;.;.	.;.;.	-1.254176	0.00479	0.010	0.65236440234574289	0.07716	0.00424	0.02089	N	AEFBI	0.030513	0.03086	N	-2.10135306459816	0.00127	0.005450461	-2.23036966852545	0.00096	0.00420069	0.0142211442209662	0.12569	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.59	-5.18	0.02624	-1.112000	0.03410	-4.958000	0.01910	-4.630000	0.00024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3421:0.2822:0.1351:0.2406	0.472	0.00498	835	0.38313	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1134.98	34	chr1	157547071	.	C	T	1134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.427;DP=810;ExcessHet=0.0000;FS=2.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.58;ReadPosRankSum=0.889;SOR=0.969	GT:AD:DP:GQ:PL	0/1:50,48:98:99:1149,0,1133	20	0	1	0
chr1	158652571	158652571	C	G	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon23:c.G3271C:p.A1091P,	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.007	N	1.000	D	2.35	M	0.21	T	-0.317	T	0.356	T	0.916	4.979	29.1	5.21	2.722	4.962	17.501	0.543	0.189188174775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.01	0.65728	D	1.0	0.90584	D	0.999	0.92359	D	0.006559	0.31955	N	0.000000	1	0.81001	D	3.005	0.85968	M	0.21	0.59983	T	-4.21	0.75776	D	0.867	0.86404	-0.3168	0.74511	T	0.356	0.71881	T	10	0.9235935	0.91710	D	0.189188	0.86047	D	0.543	0.80960	0.752	0.88237	0.847815033353	0.84635	0.8614089977129892	0.86104	0.243668225337	0.26869	0.683357298374	0.64751	T	0.692392	0.91068	D	0.299143	0.82899	D	0.191922	0.82678	D	0.995458364486694	0.87455	D	0.752925	0.37500	T	0.9427935	0.95532	0.9255177	0.96783	0.9427935	0.95532	0.9255177	0.96784	-11.24	0.80958	D	0.7227345628681306	0.80392	0.977	0.90609	P	.;.	.;.	4.288278	0.65375	24.8	0.99780095318702455	0.86693	0.98107	0.79657	D	AEFGBI	0.853602	0.77057	D	0.775340336010476	0.84542	8.31683	0.739224692975231	0.85351	8.554286	0.999999987283579	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.21	5.21	0.72005	5.242000	0.65211	4.861000	0.45471	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	17.501	0.87628	602	0.67834	.;.	.	.	.	.	.	Uncertain significance	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	0.08333	91.9	94	chr1	158652571	.	C	G	91.9	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-4.158e+00;DP=2340;ExcessHet=0.3300;FS=273.274;InbreedingCoeff=-0.1106;MLEAC=2;MLEAF=0.056;MQ=60.00;MQRankSum=0.00;QD=0.21;ReadPosRankSum=0.823;SOR=10.295	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:155,42:197:99:.:.:101,0,4758	15	0	3	3
chr1	160549938	160549938	G	A	exonic	CD84	.	stopgain	CD84:NM_001184881:exon5:c.C802T:p.R268X,	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	.	.	.	.	.	.	0.964	D	.	.	.	.	.	.	.	.	.	3.605	18.35	3.59	1.248	0.405	8.397	.	.	0.0002	.	0.0003	0.0002	0	0	0.0002	0.0004	0	0.0006	0.0002975	46	154602	rs200129612	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0004	2.989e-05	2.236e-05	0	0.0001	0.0007	0.0003	0.0003	0.0002	0.0005	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0003	4.821e-05	0	6.543e-05	0	0.0002	9.441e-05	0.0068	0.0005	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.964287	0.38398	D	.	.	.	.	.	.	.	.	.	0.572	0.59478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.616906	0.00115	T	-0.725039	0.04556	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	0.434440	0.08048	4.769	0.98755560694626721	0.45724	0.11119	0.16420	N	AEFGBHCI	0.040170	0.05939	N	-0.449885316862761	0.23744	1.277215	-0.53972118335338	0.21079	1.138636	0.99999426341836	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.51	3.59	0.40253	0.468000	0.21763	1.900000	0.29576	-0.108000	0.15293	0.181000	0.24076	0.982000	0.30508	0.004000	0.06068	0.107:0.0:0.893:0.0	8.397	0.31722	818	0.41518	.	.	.	.	.	.	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	1020.98	39	chr1	160549938	.	G	A	1020.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.070e-01;DP=804;ExcessHet=0.0000;FS=4.767;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.37;ReadPosRankSum=0.761;SOR=1.160	GT:AD:DP:GQ:PL	0/1:63,46:109:99:1035,0,1513	20	0	1	0
chr1	160681129	160681129	C	0	exonic	CD48	.	.	.	.	.	433	1028	11	0	50	61	0.00532172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1504.46	50	chr1	160681129	.	C	A,*	1504.46	.	AC=2,2;AF=0.048,0.048;AN=42;BaseQRankSum=2.28;DP=967;ExcessHet=0.6776;FS=7.137;InbreedingCoeff=-0.1053;MLEAC=2,2;MLEAF=0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=7.45;ReadPosRankSum=-7.970e-01;SOR=1.227	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,26,0:54:99:0|1:160681123_A_G:739,0,697,823,775,1598:160681123	17	0	2	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N	.	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.001	B	0.168	N	1.000	N	0.14	N	3.07	T	-0.940	T	0.010	T	0.017	-0.308	2.533	2.21	0.223	-1.239	2.806	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	5512.66	190	chr1	161048864	.	C	G	5512.66	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-5.721e+00;DP=4354;ExcessHet=20.9642;FS=217.040;InbreedingCoeff=-0.6084;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=1.61;ReadPosRankSum=1.77;SOR=13.867	GT:AD:DP:GQ:PL	0/1:165,56:233:99:392,0,3412	5	0	16	0
chr1	167993421	167993421	C	T	exonic	DCAF6	.	nonsynonymous SNV	DCAF6:NM_001198957:exon6:c.C791T:p.A264V	.	.	431	1083	8	0	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.777	P	0.26	B	0.000	D	0.964	N	0.345	N	0.28	T	-0.660	T	0.198	T	0.13	3.111	16.40	4.68	2.325	3.573	18.051	0.206	0.0372115176059	0.0002	0.000199681	0.0005	0	0.0008	0	0	0.0003	0.0011	0.0015	0.0004075	63	154602	rs142328126	0.0004	0.0004	0.0003	0.0005	0.0018	0.0004	0.0003	0.0016	0.0015	5.975e-05	0.0005	0.0002	0	0	0.0016	0.0003	0.0003	0.0018	0.0003	0.0003	0.0003	0.0003	0.0025	0.0002	0.0002	0.0014	0.0011	2.408e-05	0	0.0007	0	0	0	0.0034	0.0003	0.0005	0.0025	0.041	0.41915	D	0.459	0.12632	T	0.777	0.44168	P	0.26	0.39460	B	0.000030	0.55875	D	0.123170	0.721028	0.34224	D	1.355	0.33814	L	0.28	0.80899	T	-1.47	0.35991	N	0.315	0.37717	-0.6603	0.62263	T	0.198	0.55301	T	9	0.02482745	0.00697	T	0.037212	0.57479	D	0.206	0.49396	.	.	0.240615537116	0.23683	0.6011075134130565	0.60041	0.430707571193	0.43302	0.685822367668	0.65105	T	0.021446	0.16701	T	-0.387955	0.02772	T	-0.343277	0.39973	T	0.033449038285416	0.02546	T	0.779122	0.41282	T	0.113974884	0.26911	0.12533493	0.30201	0.113974884	0.26911	0.12533493	0.30201	-7.102	0.61193	T	0.22432003042208826	0.30294	0.088	0.15025	B	.;.;.;.	.;.;.;.	4.298489	0.65610	24.9	0.99616581387163816	0.75172	0.93530	0.58468	D	AEFBI	0.526776	0.54899	D	0.0067635552407662	0.42161	2.535229	0.144066846724652	0.46829	2.922537	0.999975128512512	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.68	4.68	0.58319	3.622000	0.53958	5.934000	0.51367	0.544000	0.25403	0.960000	0.33603	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.051	0.89274	518	0.74548	.;.;.;.	.	.	.	.	.	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	1114.98	41	chr1	167993421	.	C	T	1114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.49;DP=809;ExcessHet=0.0000;FS=2.501;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.23;ReadPosRankSum=-1.468e+00;SOR=0.730	GT:AD:DP:GQ:PL	0/1:64,45:109:99:1129,0,1505	20	0	1	0
chr1	168015904	168015904	C	G	exonic	DCAF6	.	nonsynonymous SNV	DCAF6:NM_001198957:exon10:c.C1409G:p.S470C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.994	D	0.847	P	0.237	N	0.999	N	.	.	0.29	T	0.199	D	0.577	D	0.221	3.162	16.58	5.08	2.519	4.745	17.034	0.193	0.0663868663574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.44e-06	2.052e-06	1.421e-06	1.46e-06	1.862e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.112	0.37173	T	0.994	0.66517	D	0.847	0.60522	P	0.236653	0.15803	N	0.620832	1	0.81001	D	.	.	.	0.29	0.80815	T	-1.44	0.35399	N	0.281	0.35727	0.199	0.85883	D	0.577	0.84742	D	8	0.25384134	0.42756	T	0.066387	0.69859	D	0.193	0.47281	0.186	0.09517	0.318725805183	0.31479	0.45603550426071676	0.45521	1.11834878413	0.78224	0.462630063295	0.33671	T	.	.	.	-0.0088661	0.50424	T	-0.250512	0.49767	T	0.942026853561401	0.61582	D	0.763824	0.39073	T	.	.	.	.	.	.	.	.	-8.932	0.67916	D	.	.	0.109	0.20857	B	.;.	.;.	4.508036	0.70568	25.5	0.97924715765615511	0.36914	0.94814	0.62421	D	AEFGBI	0.405733	0.47850	N	0.460621722958569	0.64807	4.743889	0.430190990811594	0.63454	4.579517	0.999368695473563	0.39301	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.08	5.08	0.68373	4.790000	0.62146	3.481000	0.38649	0.596000	0.33519	1.000000	0.71638	0.122000	0.22912	0.998000	0.85391	0.0:1.0:0.0:0.0	17.034	0.86344	534	0.73357	.;.	.	.	.	.	.	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	0.02381	1197.98	33	chr1	168015904	.	C	G	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.786;DP=801;ExcessHet=0.0000;FS=3.686;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.30;ReadPosRankSum=1.03;SOR=0.386	GT:AD:DP:GQ:PL	0/1:61,45:106:99:1212,0,1688	20	0	1	0
chr1	171199382	171199382	G	A	exonic	FMO2	.	nonsynonymous SNV	FMO2:NM_001365900:exon4:c.G326A:p.R109H	.	.	415	1093	13	1	0	15	0.00681508	.	.	718386	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.19	T	1.0	D	0.981	D	0.000	D	0.960	D	0.93	L	0.3	T	-0.794	T	0.171	T	0.501	3.303	17.10	5.26	1.631	3.368	11.565	0.347	0.0159901046176	0.0049	0.00279553	0.0044	0.0019	0.0020	0	0.0024	0.0060	0.0045	0.0044	0.0046507	719	154602	rs148292940	0.0068	0.0068	0.0069	0.0067	0.0078	0.0067	0.0066	0.0077	0.0076	0.0008	0.0032	0.0046	2.536e-05	0.0032	0.0061	0.0078	0.0067	0.0040	0.0050	0.0050	0.0052	0.0047	0.0072	0.0047	0.0045	0.0066	0.0064	0.0018	0	0.0063	0.0046	0	0.0045	0	0.0072	0.0028	0.0058	0.145	0.25154	T	0.279	0.21745	T	.	.	.	.	.	.	0.000002	0.62929	D	0.103040	0.959996	0.38156	D	.	.	.	0.3	0.58755	T	-4.19	0.75615	D	0.274	0.31027	-0.7940	0.55496	T	0.171	0.51197	T	10	0.013393253	0.00284	T	0.01599	0.37021	T	0.347	0.66863	.	.	0.696484460985	0.69386	0.21569677316845035	0.21485	.	.	0.26549115777	0.05562	T	.	.	.	-0.373789	0.03407	T	-0.303726	0.44330	T	0.0278224029496475	0.01662	T	0.886311	0.61284	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.30076	B	.	.	3.677240	0.52319	23.2	0.99614359351593751	0.74992	0.95091	0.63404	D	AEFBI	0.629797	0.61138	D	0.486851093789355	0.66320	4.935103	0.519685206408787	0.69315	5.342971	0.133916200987277	0.17144	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.17	5.26	0.73479	2.555000	0.45515	2.704000	0.34183	0.671000	0.69459	0.983000	0.35670	0.724000	0.26372	0.992000	0.67800	0.1434:0.0:0.8566:0.0	11.565	0.50052	734	0.53889	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	776.98	35	chr1	171199382	.	G	A	776.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.080;DP=781;ExcessHet=0.0000;FS=4.109;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.63;ReadPosRankSum=1.40;SOR=0.386	GT:AD:DP:GQ:PL	0/1:54,36:90:99:791,0,1317	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	1/1:6,58,0:64:99:.:.:1990,162,0,1998,173,2009	2	5	6	0
chr1	175337671	175337671	C	A	exonic	TNR	.	nonsynonymous SNV	TNR:NM_001328635:exon19:c.G2392T:p.V798L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.0	B	0.001	B	0.003	N	0.960	D	-1.365	N	2.15	T	-1.006	T	0.014	T	0.064	-0.094	3.537	2.63	0.272	0.704	9.753	0.043	0.00519484893477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	1.361e-06	4.125e-06	1.159e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.002555	0.36353	N	0.238051	0.959938	0.38153	D	-1.31	0.00704	N	2.15	0.19311	T	1.57	0.00677	N	0.166	0.19728	-1.0056	0.28277	T	0.014	0.05657	T	10	0.06363192	0.08318	T	0.005195	0.13218	T	0.043	0.11576	0.228	0.15406	0.202312658747	0.19855	0.15452108707554538	0.15373	0.740839495751	0.63252	0.382242739201	0.22574	T	0.132507	0.46264	T	-0.366076	0.03798	T	-0.763619	0.02984	T	0.220849245786667	0.21506	T	0.862614	0.55818	D	0.03396132	0.03719	0.054100562	0.09240	0.03396132	0.03719	0.054100562	0.09240	-0.891	0.00886	T	0.059217163281832685	0.01549	0.106	0.19800	B	.;.	.;.	0.512939	0.08815	5.596	0.73731136892457927	0.10434	0.42916	0.26983	N	AEFBI	0.213676	0.33923	N	-0.8535229325803	0.11964	0.5803588	-0.655308059028349	0.18082	0.9644367	5.20025644762403E-5	0.04171	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.58	2.63	0.30420	0.734000	0.25769	0.146000	0.15234	0.599000	0.40250	0.309000	0.25405	0.004000	0.18990	0.941000	0.48210	0.0:0.766:0.0:0.234	9.753	0.39655	647	0.63344	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	773.98	42	chr1	175337671	.	C	A	773.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.010e-01;DP=761;ExcessHet=0.0000;FS=1.105;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=0.754;SOR=1.038	GT:AD:DP:GQ:PL	0/1:28,28:56:99:788,0,775	20	0	1	0
chr1	179882614	179882614	G	A	exonic	TOR1AIP1	.	nonsynonymous SNV	TOR1AIP1:NM_001267578:exon1:c.G112A:p.G38S	.	.	433	1087	2	0	0	2	0.000919118	.	.	941585	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Y	MONDO:MONDO:0014900,MedGen:C4511482,OMIM:617072,Orphanet:424261	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.774	P	0.074	B	0.365	N	0.984	N	0.895	L	1.84	T	-1.069	T	0.034	T	0.095	2.990	15.97	3.09	0.550	1.240	8.259	0.023	0.00864751252466	.	.	3.429e-05	0	0.0001	0	0	3.915e-05	0	0	1.94e-05	3	154602	rs777102321	1.162e-05	1.3e-05	7.138e-06	1.625e-05	0.0004	6.88e-06	5.57e-06	6.716e-05	2.716e-05	0	0.0001	0	0	0	0.0004	6.524e-06	3.535e-05	1.388e-05	6.582e-06	6.568e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.14	0.27080	T	0.22	0.48855	T	0.774	0.44062	P	0.074	0.28220	B	0.364775	0.13616	N	0.671859	0.983751	0.24858	N	1.5	0.37844	L	1.82	0.25018	T	-1.0	0.27463	N	0.081	0.13484	-1.0691	0.09612	T	0.034	0.14509	T	10	0.10700747	0.19856	T	0.008648	0.22854	T	0.023	0.04649	.	.	0.470237251169	0.46650	0.05461676271458267	0.05403	0.103935340526	0.11761	0.434152543545	0.29776	T	0.064756	0.32516	T	-0.349815	0.04739	T	-0.470961	0.25413	T	0.231332957744598	0.22015	T	0.782522	0.42665	T	0.07109999	0.15715	0.124070354	0.29911	0.07109999	0.15715	0.124070354	0.29910	-3.111	0.11551	T	.	.	0.085	0.12655	B	.;.;.	.;.;.	2.614252	0.33961	19.49	0.99504747785872283	0.68264	0.63274	0.32038	D	ALL	0.255293	0.37444	N	-0.0696736323918952	0.38729	2.272762	0.000471346348360373	0.39738	2.360767	1.0	0.98316	0.024636	0.00146	3	0.218748	0.04544	0	0.289072	0.05449	1	0.249971	0.05119	0	.	.	5.18	3.09	0.34677	1.264000	0.32618	4.155000	0.42174	0.672000	0.70159	0.998000	0.41325	1.000000	0.68203	0.921000	0.45669	0.2041:0.0:0.7959:0.0	8.259	0.30931	415	0.81806	.;.;.	.	.	.	.	.	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	1027.98	39	chr1	179882614	.	G	A	1027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.97;DP=838;ExcessHet=0.0000;FS=0.940;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=-2.666e+00;SOR=0.551	GT:AD:DP:GQ:PL	0/1:38,37:75:99:1042,0,989	20	0	1	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	0/1:47,46:93:99:1581,0,1631	19	0	2	0
chr1	200048508	200048508	G	A	exonic	NR5A2	.	nonsynonymous SNV	NR5A2:NM_001276464:exon4:c.G584A:p.R195Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.882	P	0.18	B	0.000	D	1.000	D	2.265	M	-3.34	D	0.574	D	0.740	D	0.723	4.959	28.9	5.09	2.523	9.354	18.845	0.568	0.218551347235	.	.	4.119e-05	0	0	0	0	7.494e-05	0	0	3.88e-05	6	154602	rs201214610	6.635e-05	6.635e-05	5.581e-05	7.7e-05	0.0004	5.562e-05	5.152e-05	0.0002	0.0002	2.987e-05	6.708e-05	0.0011	0.0004	0	0	3.687e-05	0.0001	0	7.887e-05	7.881e-05	0.0001	5.381e-05	6.545e-05	4.498e-05	3.513e-05	1.972e-05	1.124e-05	4.829e-05	0	6.545e-05	0.0012	0	0	0	5.88e-05	0.0005	0	0.055	0.39097	T	0.404	0.15157	T	0.403	0.34918	B	0.026	0.20792	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.265	0.64440	M	-3.34	0.94161	D	-1.74	0.41239	N	0.761	0.75927	0.574	0.91551	D	0.740	0.91112	D	9	0.61681664	0.67752	D	0.218551	0.87664	D	0.568	0.82403	0.273	0.22369	0.867767558876	0.86648	0.5882618098394757	0.58756	0.508603170657	0.49010	0.670203089714	0.62867	T	0.428809	0.77782	T	0.170775	0.71194	D	0.204501	0.83373	D	0.654552638530731	0.38658	D	0.920908	0.71352	D	0.36891007	0.58504	0.44282055	0.67520	0.36891007	0.58504	0.44282055	0.67520	-2.724	0.10409	T	.	.	0.278	0.51103	B	.;.;.	.;.;.	4.663493	0.74467	26.2	0.99956793860377968	0.99981	0.61418	0.31478	D	AEFGBHCIJ	0.965945	0.98831	D	0.447007308967318	0.64034	4.649048	0.53097273489573	0.70086	5.453553	1.0	0.98316	0.446893	0.09132	0	0.563428	0.19063	0	0.519653	0.09787	0	0.714379	0.83352	0	.	.	5.09	5.09	0.68647	9.535000	0.97135	11.650000	0.93875	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.845	0.92172	826	0.39940	.;.;.	.	.	.	.	.	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	2896.98	34	chr1	200048508	.	G	A	2896.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=998;ExcessHet=0.0000;FS=0.954;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=-4.360e-01;SOR=0.781	GT:AD:DP:GQ:PL	0/1:151,112:263:99:2911,0,4082	20	0	1	0
chr1	200908849	200908849	G	A	exonic	INAVA	.	nonsynonymous SNV	INAVA:NM_001142569:exon7:c.G694A:p.A232T	.	.	412	1108	2	0	0	2	0.000901713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.58	P	0.196	B	0.000	D	0.650	D	1.155	L	0.93	T	-0.948	T	0.055	T	0.196	2.380	13.92	4.02	2.313	1.844	9.342	0.070	.	7.7e-05	0.00219649	0.0009	0	0	0.0108	0	0.0001	0	0.0002	0.0007568	117	154602	rs143222538	0.0004	0.0004	0.0003	0.0004	0.0107	0.0003	0.0003	0.0098	0.0095	0	0	3.827e-05	0.0107	0	0.0003	4.587e-05	0.0004	0.0003	0.0004	0.0004	0.0003	0.0006	0.0110	0.0003	0.0003	0.0087	0.0079	0	0	6.538e-05	0	0.0110	0	0	5.881e-05	0.0005	0.0002	0.096	0.48186	T	0.11	0.37310	T	0.58	0.38813	P	0.196	0.36635	B	0.000019	0.62929	D	0.070427	0.650292	0.32957	D	.	.	.	0.9	0.45248	T	-1.07	0.27876	N	0.281	0.31814	-0.9477	0.41364	T	0.055	0.23148	T	10	0.006980002	0.00159	T	.	.	.	0.070	0.20419	.	.	0.0675242888579	0.06100	0.1998277629177605	0.19899	0.260815749323	0.28643	.	.	.	0.005468	0.04921	T	-0.506969	0.00522	T	-0.488679	0.23528	T	0.0307771134094995	0.02110	T	0.713629	0.32527	T	0.07654688	0.17318	0.077164665	0.17164	0.06943138	0.15211	0.08025226	0.18136	-3.86	0.21704	T	0.4753587322005225	0.55503	0.113	0.24396	B	.;.	.;.	2.563346	0.33199	19.27	0.99533658520752177	0.70025	0.72090	0.35299	D	AEFBCI	0.172579	0.29962	N	-0.00238491731406561	0.41747	2.50271	0.0673341020545108	0.42917	2.604469	0.999999659084637	0.74766	0.67177	0.52595	0	0.296712	0.05252	1	0.702456	0.68683	0	0.542086	0.14980	0	.	.	5.02	4.02	0.45968	1.810000	0.38570	6.188000	0.54728	0.676000	0.76740	0.993000	0.37899	1.000000	0.68203	0.308000	0.24690	0.0:0.0:0.6732:0.3268	9.342	0.37249	793	0.45818	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	825.98	36	chr1	200908849	.	G	A	825.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.749e+00;DP=746;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.02;ReadPosRankSum=1.18;SOR=0.573	GT:AD:DP:GQ:PL	0/1:20,35:55:99:840,0,517	20	0	1	0
chr1	201209540	201209647	GGATGGTTTAGGAGGTTCTGAAGAAATGGGGTCAGTGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAG	-	exonic	IGFN1	.	nonframeshift deletion	IGFN1:NM_001164586:exon12:c.4647_4754del:p.E1556_S1591del,	.	.	426	1075	15	0	6	21	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0	0	0	0	0.0073	0	0.0014	.	.	.	.	0.0006	0.0005	0.0006	0.0006	0.0011	0.0005	0.0005	0.0009	0.0009	3.963e-05	0.0004	0.0221	0	0	0.0011	0.0001	0.0017	0.0011	0.0015	0.0012	0.0015	0.0015	0.0029	0.0013	0.0012	0.0014	0.0010	0.0002	0	0.0007	0.0425	0	0	0	0.0003	0.0009	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	7193.51	294	chr1	201209539	.	CGGATGGTTTAGGAGGTTCTGAAGAAATGGGGTCAGTGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAG	GGGATGGTTTAGGAGGTTCTGAAGAAATGGGGTCAGTGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAG,C	7193.51	.	AC=5,1;AF=0.250,0.050;AN=20;BaseQRankSum=3.28;DP=5820;ExcessHet=1.7912;FS=3.273;InbreedingCoeff=-0.3775;MLEAC=8,2;MLEAF=0.400,0.100;MQ=58.68;MQRankSum=-1.180e+01;QD=4.16;ReadPosRankSum=-5.710e+00;SOR=1.032	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:262,44,0:306:99:0|1:201209539_C_G:816,0,10443,1622,10653,12627:201209539	4	0	5	11
chr1	201209552	201209552	A	0	exonic	IGFN1	.	.	.	.	.	427	1062	28	0	5	33	0.0130112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6307.61	317	chr1	201209552	.	A	G,*	6307.61	.	AC=5,1;AF=0.417,0.083;AN=12;BaseQRankSum=-1.020e-01;DP=6709;ExcessHet=1.7912;FS=4.049;InbreedingCoeff=-0.4737;MLEAC=9,2;MLEAF=0.750,0.167;MQ=58.39;MQRankSum=-1.237e+01;QD=3.47;ReadPosRankSum=-6.142e+00;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:259,61,0:320:99:0|1:201209539_C_G:1395,0,10327,2243,10579,13174:201209539	0	0	5	15
chr1	203223232	203223232	C	A	exonic	CHIT1	.	nonsynonymous SNV	CHIT1:NM_001256125:exon5:c.G451T:p.A151S	.	.	425	1095	2	0	0	2	0.000912409	.	.	279924	Chitotriosidase_deficiency	MedGen:C3279902,OMIM:614122	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.26	T	0.097	B	0.285	B	0.036	N	0.591	N	1.155	L	1.29	T	-0.983	T	0.059	T	0.262	0.913	8.715	2.65	0.990	4.008	7.842	0.036	0.017145532011	.	0.00199681	0.0007	0	0	0.0095	0	0	0	0.0002	0.0006339	98	154602	rs151004649	0.0004	0.0004	0.0004	0.0004	0.0146	0.0004	0.0004	0.0136	0.0132	0	0	0	0.0146	0	0	3.597e-06	0.0002	0.0002	0.0004	0.0004	0.0003	0.0005	0.0102	0.0003	0.0003	0.0080	0.0072	0	0	6.533e-05	0	0.0102	0	0	0	0	0.0010	0.208	0.19854	T	0.177	0.32040	T	0.097	0.25541	B	0.285	0.40506	B	0.035523	0.24632	N	0.279873	0.59063	0.31023	N	0.835	0.21042	L	1.29	0.35775	T	-1.72	0.40850	N	0.154	0.20395	-0.9831	0.34281	T	0.059	0.24575	T	10	0.0033851266	0.00059	T	0.017146	0.38730	T	0.036	0.09122	.	.	0.420939154896	0.41709	0.4104948860850389	0.40965	0.224371449795	0.24973	0.469472110271	0.34608	T	0.246519	0.61601	T	-0.503954	0.00543	T	-0.488852	0.23510	T	0.0749715595489156	0.09332	T	0.277372	0.08297	T	0.3089928	0.53699	0.15418449	0.36198	0.3089928	0.53699	0.15418449	0.36197	-6.195	0.48309	T	.	.	0.084	0.09772	B	.;.	.;.	2.483923	0.32036	18.92	0.96190254457615754	0.28988	0.90766	0.52220	D	AEFBI	0.283644	0.39670	N	-0.262561905302195	0.30605	1.708067	-0.20177382590587	0.31473	1.781471	0.998543758489956	0.37167	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.62	2.65	0.30588	3.324000	0.51734	1.180000	0.24688	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.395000	0.26670	0.1646:0.742:0.0:0.0934	7.842	0.28567	878	0.29785	Glycoside hydrolase family 18, catalytic domain|Chitinase II;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1195.98	42	chr1	203223232	.	C	A	1195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.607e+00;DP=830;ExcessHet=0.0000;FS=0.712;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=1.19;SOR=0.604	GT:AD:DP:GQ:PL	0/1:60,52:112:99:1210,0,1739	20	0	1	0
chr1	203483425	203483425	C	T	exonic	PRELP	.	nonsynonymous SNV	PRELP:NM_002725:exon2:c.C241T:p.P81S	.	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.024	B	0.04	B	0.209	N	0.950	D	1.525	L	1.04	T	-1.069	T	0.077	T	0.072	1.065	9.348	0.564	-0.170	-0.011	6.399	0.033	0.010276648202	.	0.000199681	8.237e-05	0	0	0.0010	0	1.498e-05	0	0	3.84e-05	1	26028	rs150506217	3.831e-05	3.831e-05	3.948e-05	3.713e-05	0.0012	3.025e-05	2.719e-05	0.0009	0.0008	0	0	0	0.0012	0	0.0002	6.295e-06	3.312e-05	0	1.97e-05	1.968e-05	1.285e-05	2.686e-05	0.0004	5.24e-06	2.45e-06	6.85e-05	2.865e-05	0	0	0	0	0.0004	0	0	1.47e-05	0	0	0.073	0.34800	T	0.215	0.26306	T	0.024	0.19075	B	0.04	0.23831	B	0.208503	0.16423	N	0.608859	0.949615	0.37659	D	1.61	0.41143	L	1.04	0.40218	T	-3.79	0.71639	D	0.116	0.10483	-1.0692	0.09590	T	0.077	0.30951	T	10	0.02792576	0.00930	T	0.010277	0.26632	T	0.033	0.08068	.	.	0.533179623451	0.52966	0.3054585791658075	0.30458	0.325979279674	0.34754	0.288007467985	0.08633	T	0.379065	0.74190	T	-0.553554	0.00278	T	-0.663004	0.08065	T	0.0261599964454996	0.01428	T	0.862414	0.55771	D	0.09703114	0.22865	0.13523827	0.32385	0.09703114	0.22865	0.13523827	0.32384	-7.44	0.57187	T	.	.	0.109	0.20819	B	.	.	0.328079	0.07020	3.582	0.96342550326211429	0.29486	0.38724	0.26053	N	AEFDBI	0.436463	0.49667	N	-0.889037127879495	0.11102	0.5339935	-0.922382140307808	0.11566	0.5900329	0.999969173083622	0.48965	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.81	0.564	0.16487	-0.005000	0.12791	0.062000	0.14145	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.968000	0.53726	0.0:0.5542:0.2777:0.1681	6.399	0.20831	911	0.21964	Leucine-rich repeat N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2629.98	35	chr1	203483425	.	C	T	2629.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.380e-01;DP=1276;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.65;ReadPosRankSum=-4.270e-01;SOR=0.685	GT:AD:DP:GQ:PL	0/1:138,109:247:99:2644,0,3710	20	0	1	0
chr1	204444147	204444147	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.T2788C:p.C930R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.985	D	0.000	D	1.000	D	1.005	L	0.14	T	-0.723	T	0.246	T	0.971	3.959	20.3	5.98	2.288	3.844	10.472	0.372	0.0699442069728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.53788	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.83	0.20963	L	0.14	0.60854	T	-5.22	0.83830	D	0.861	0.86191	-0.7225	0.59339	T	0.246	0.61530	T	10	0.6625425	0.70238	D	0.069944	0.70868	D	0.372	0.69102	0.335	0.32329	0.796189045978	0.79428	0.5671153260514122	0.56639	1.38482303822	0.84866	0.874912202358	0.93263	D	0.60522	0.87406	D	0.279203	0.81249	D	0.163279	0.81006	D	0.975287973880768	0.70867	D	0.739426	0.52772	T	0.74623775	0.80650	0.7226829	0.83623	0.74623775	0.80652	0.7226829	0.83624	-7.62	0.58450	D	.	.	0.819	0.87226	P	.;.	.;.	4.639661	0.73847	26.1	0.99796849897327999	0.88194	0.90532	0.51786	D	ALL	0.673803	0.63974	D	0.263763222116594	0.54323	3.598145	0.384514743775906	0.60611	4.250483	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	3.831000	0.55477	11.132000	0.86827	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9272:0.0:0.0728:0.0	10.472	0.43830	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	1053.66	151	chr1	204444147	.	A	G	1053.66	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-4.399e+00;DP=2661;ExcessHet=3.5521;FS=172.132;InbreedingCoeff=-0.2533;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=0.89;ReadPosRankSum=1.46;SOR=11.360	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:121,42:163:99:.:.:240,0,2661	12	0	8	1
chr1	207091722	207091722	C	T	exonic	C4BPB	.	nonsynonymous SNV	C4BPB:NM_000716:exon3:c.C311T:p.T104M	.	.	.	.	.	.	.	.	.	.	.	3291386	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.908	P	0.421	B	0.150	N	1.000	N	1.645	L	-0.17	T	-0.942	T	0.176	T	0.233	0.191	5.028	2.14	0.303	-0.017	6.348	0.085	0.0779206824085	.	.	3.296e-05	0	8.639e-05	0	0	4.497e-05	0	0	2.59e-05	4	154602	rs754303721	3.421e-05	3.42e-05	4.22e-05	2.613e-05	4.472e-05	2.632e-05	2.375e-05	2.743e-05	2.469e-05	0	4.472e-05	3.826e-05	0	0	0	3.688e-05	8.28e-05	1.159e-05	6.574e-05	6.568e-05	3.855e-05	9.422e-05	0.0001	3.518e-05	2.617e-05	6.804e-05	5.088e-05	2.414e-05	0	0	0	0	0	0	0.0001	0	0	0.232	0.19361	T	0.331	0.24767	T	0.752	0.43309	P	0.197	0.36707	B	0.149511	0.18015	N	0.512124	1	0.08975	N	1.705	0.44259	L	-0.17	0.65563	T	-1.21	0.42763	N	0.176	0.19055	-0.9422	0.42266	T	0.176	0.52053	T	10	0.22791088	0.39682	T	0.077921	0.72884	D	0.085	0.24743	.	.	0.156986980423	0.15292	0.36829338571981735	0.36743	0.286518005966	0.31048	0.339658558369	0.16387	T	0.110152	0.43050	T	-0.278758	0.10799	T	-0.44651	0.28083	T	0.118840329349041	0.14317	T	0.678032	0.28700	T	0.04186637	0.06245	0.072534904	0.15660	0.04186637	0.06244	0.072534904	0.15659	-6.729	0.52028	T	.	.	0.177	0.38747	B	.;.;.;.;.	.;.;.;.;.	1.591670	0.20356	14.71	0.82378380998165601	0.14161	0.04030	0.09467	N	AEFDGBHCI	0.550328	0.56285	D	-0.450241695920723	0.23731	1.276481	-0.570228759019482	0.20270	1.091373	0.99999999994351	0.74766	0.525926	0.21836	0	0.296712	0.05252	1	0.615948	0.41167	0	0.542086	0.14980	0	.	.	5.04	2.14	0.26518	-0.046000	0.11937	-0.298000	0.10137	0.549000	0.26987	0.010000	0.18352	0.000000	0.08366	0.398000	0.26737	0.0:0.6885:0.0:0.3115	6.348	0.20568	663	0.61610	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1781.98	33	chr1	207091722	.	C	T	1781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.500e-02;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.50;ReadPosRankSum=-2.940e-01;SOR=0.738	GT:AD:DP:GQ:PL	0/1:57,75:132:99:1796,0,1246	20	0	1	0
chr1	209634623	209634623	C	T	exonic	LAMB3	.	nonsynonymous SNV	LAMB3:NM_001017402:exon5:c.G388A:p.G130S	Amelogenesis imperfecta, type IA, Autosomal dominant;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1879050	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.27	T	0.992	D	0.656	P	0.041	N	0.739	D	0.19	N	-1.16	T	-0.439	T	0.283	T	0.342	2.909	15.69	4.27	2.232	4.153	10.263	0.258	0.0701824915475	.	.	6.984e-05	0.0001	9.301e-05	0	0	0	0	0.0004	5.17e-05	8	154602	rs769334793	1.984e-05	1.984e-05	9.531e-06	3.026e-05	0.0003	1.392e-05	1.204e-05	0.0002	0.0002	0	0	0	0	0	0	2.698e-06	3.314e-05	0.0003	6.578e-06	6.568e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.162	0.35726	T	0.257	0.30045	T	0.992	0.64738	D	0.656	0.52685	P	0.040873	0.24011	N	0.434279	0.739315	0.33804	D	1.235	0.30780	L	-1.16	0.78082	T	-0.68	0.19509	N	0.379	0.42247	-0.4392	0.70757	T	0.283	0.65498	T	10	0.31334627	0.48786	T	0.070182	0.70933	D	0.258	0.56959	0.494	0.58206	0.86423548863	0.86292	0.5501809059484342	0.54944	0.507590868077	0.48939	0.360830128193	0.19507	T	0.15756	0.50021	T	-0.224705	0.17356	T	-0.244393	0.50368	T	0.23976357281208	0.22408	T	0.825817	0.51993	T	0.1420785	0.32711	0.13239014	0.31771	0.1420785	0.32711	0.13239014	0.31770	-4.667	0.33002	T	.	.	0.106	0.22609	B	.;.;.;.	.;.;.;.	3.975341	0.58407	24.0	0.99795636170021795	0.88106	0.90071	0.50965	D	AEFDBCI	0.640718	0.61831	D	0.198367332307597	0.51121	3.295888	0.229124585037969	0.51469	3.329246	0.999999859301751	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.27	4.27	0.50009	4.380000	0.59348	5.880000	0.50633	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.460000	0.28118	0.0:0.9079:0.0:0.0921	10.263	0.42618	937	0.14592	Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal|Laminin, 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	0.04762	4741.13	34	chr1	209634623	.	C	T,A	4741.13	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=2.25;DP=909;ExcessHet=0.1072;FS=1.009;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=19.04;ReadPosRankSum=0.532;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,62,0:133:99:0|1:209634623_C_T:2336,0,2709,2550,2895,5445:209634623	19	0	1	0
chr1	209634623	209634623	C	A	exonic	LAMB3	.	nonsynonymous SNV	LAMB3:NM_001017402:exon5:c.G388T:p.G130C	Amelogenesis imperfecta, type IA, Autosomal dominant;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	YES	0	1518	4	0	0	4	0.00131579	.	.	278682	Inborn_genetic_diseases|Junctional_epidermolysis_bullosa	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.996	D	0.041	N	0.919	D	1.78	L	-1.37	T	0.264	D	0.584	D	0.527	3.219	16.79	4.27	2.232	4.153	10.263	0.595	0.347312962355	.	.	6.984e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs769334793	2.737e-05	2.736e-05	1.225e-05	4.264e-05	0.0004	2.063e-05	1.816e-05	0.0003	0.0003	0	0	0	0	0	0.0003	8.994e-07	4.97e-05	0.0004	1.973e-05	1.97e-05	1.286e-05	2.694e-05	0.0006	5.25e-06	2.46e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	0.007	0.78490	D	0.009	0.66756	D	1.0	0.90584	D	0.996	0.84481	D	0.040873	0.24011	N	0.434279	0.919379	0.36632	D	2.48	0.72069	M	-1.37	0.80214	T	-2.54	0.55025	D	0.586	0.60664	0.264	0.86968	D	0.584	0.85079	D	10	0.49766478	0.61362	T	0.347313	0.92175	D	0.595	0.83911	0.59	0.71874	0.941097715605	0.94048	0.7029622431560919	0.70237	0.551627245893	0.51996	0.403543412685	0.25561	T	0.451514	0.79220	T	-0.117506	0.33531	T	-0.100589	0.63352	T	0.486158907413483	0.32123	T	0.836816	0.56877	T	0.7056676	0.78368	0.47298768	0.69450	0.7056676	0.78369	0.47298768	0.69451	-11.836	0.84042	D	.	.	0.554	0.67711	A	.;.;.;.	.;.;.;.	4.672407	0.74688	26.2	0.99745700666787718	0.83852	0.93393	0.58097	D	AEFDBCI	0.728931	0.67680	D	0.525015320884231	0.68573	5.235883	0.456130249703696	0.65112	4.782694	0.999999859301751	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.27	4.27	0.50009	4.380000	0.59348	5.880000	0.50633	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.460000	0.28118	0.0:0.9079:0.0:0.0921	10.263	0.42618	937	0.14592	Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal|Laminin, 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	1	0	0	0	0	0	0	0.04762	4741.13	34	chr1	209634623	.	C	T,A	4741.13	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=2.25;DP=909;ExcessHet=0.1072;FS=1.009;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=19.04;ReadPosRankSum=0.532;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,62,0:133:99:0|1:209634623_C_T:2336,0,2709,2550,2895,5445:209634623	19	0	1	0
chr1	211673545	211673545	T	A	exonic	NEK2	.	nonsynonymous SNV	NEK2:NM_001204182:exon3:c.A493T:p.I165L	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.123	B	0.306	B	0.000	D	1.000	D	0.82	L	-0.06	T	-0.808	T	0.209	T	0.552	4.139	21.4	5.23	2.095	7.649	15.410	0.199	0.0164383460169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.152	0.35970	T	0.123	0.26785	B	0.306	0.41250	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.655	0.16177	N	-0.06	0.63568	T	-1.69	0.40274	N	0.664	0.67304	-0.8077	0.54689	T	0.209	0.56866	T	10	0.46250212	0.59371	T	0.016438	0.37697	T	0.199	0.48268	0.374	0.38667	0.5864806356	0.58322	0.43537747906506685	0.43454	0.66949931502	0.59350	0.837934553623	0.87779	D	0.020703	0.31243	T	0.0367101	0.56612	T	-0.185045	0.56052	T	0.880712330341339	0.53074	D	0.914409	0.69449	D	0.47980812	0.65888	0.20102015	0.44061	0.47980812	0.65889	0.20102015	0.44060	-3.593	0.24192	T	.	.	0.402	0.60688	A	.;.;.	.;.;.	4.473997	0.69744	25.4	0.98859295922940382	0.47442	0.97918	0.78116	D	AEFBI	0.905922	0.85805	D	0.0660536955415511	0.44884	2.754454	0.243341950686256	0.52272	3.403109	0.999999999984011	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.23	5.23	0.72570	7.673000	0.82956	7.844000	0.70656	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	15.410	0.74631	878	0.29785	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2106.98	63	chr1	211673545	.	T	A	2106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.837;DP=1018;ExcessHet=0.0000;FS=0.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=0.261;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,87:157:99:0|1:211673534_A_G:2121,0,1571:211673534	20	0	1	0
chr1	212385408	212385408	C	T	exonic	PACC1	.	nonsynonymous SNV	PACC1:NM_001377478:exon3:c.G151A:p.G51S	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	1.04	L	.	.	-0.329	T	0.348	T	0.957	5.206	33	5.43	2.531	6.922	19.227	0.672	0.0792849366359	7.7e-05	.	3.297e-05	0	8.649e-05	0	0	4.498e-05	0	0	3.23e-05	5	154602	rs369443875	3.42e-05	3.42e-05	3.131e-05	3.713e-05	0.0002	2.631e-05	2.375e-05	9.75e-05	6.951e-05	0.0002	6.709e-05	0	2.519e-05	0	0.0002	3.148e-05	3.312e-05	1.159e-05	4.607e-05	4.598e-05	5.145e-05	4.043e-05	0.0001	2.112e-05	1.529e-05	2.847e-05	1.859e-05	0	0	0.0001	0	0	0	0	7.354e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	.	.	.	-6.0	0.89534	D	0.89	0.91162	-0.3285	0.74177	T	0.348	0.71289	T	9	0.8591851	0.85129	D	0.079285	0.73198	D	0.672	0.87868	.	.	0.0884992946249	0.08302	0.6376872781503562	0.63702	0.800424337684	0.66216	0.766312479973	0.76872	T	0.24132	0.60982	T	0.303707	0.83263	D	0.395449	0.91963	D	0.95759129524231	0.65050	D	0.955104	0.82903	D	0.8703842	0.88892	0.7972815	0.88099	0.8703842	0.88893	0.7972815	0.88100	-3.152	0.11903	T	.	.	0.185	0.45690	B	.;.	.;.	4.927351	0.81204	27.5	0.99878806501516393	0.95572	0.98344	0.81832	D	AEFGBI	0.787703	0.71741	D	0.613545268681952	0.74032	6.064045	0.603239109101594	0.75175	6.264301	0.999999993686788	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	7.026000	0.76192	5.898000	0.50850	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.707000	0.34357	0.0:1.0:0.0:0.0	19.227	0.93809	816	0.41767	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	896.98	41	chr1	212385408	.	C	T	896.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=-7.740e-01;SOR=0.720	GT:AD:DP:GQ:PL	0/1:46,37:83:99:911,0,1097	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	0/1:51,20:71:2:2,0,617	10	0	11	0
chr1	223229359	223229359	C	T	exonic	SUSD4	.	nonsynonymous SNV	SUSD4:NM_017982:exon6:c.G754A:p.G252R,	.	.	.	.	.	.	.	.	.	.	.	3327644	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.986	D	0.000	D	1.000	D	2.25	M	0.45	T	-0.315	T	0.373	T	0.935	5.438	35	5.83	2.767	7.135	20.126	0.554	0.0602705948339	0.0002	.	3.371e-05	0	0	0	0	4.564e-05	0	6.17e-05	2.59e-05	4	154602	rs370135332	2.205e-05	2.326e-05	1.777e-05	2.64e-05	0.0008	1.596e-05	1.366e-05	0.0003	0.0002	6.004e-05	0	0	2.542e-05	0	0.0008	1.903e-05	1.67e-05	3.491e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0005	0	0.001	0.78490	D	0.005	0.72224	D	1.0	0.90584	D	0.986	0.76916	D	0.000288	0.46274	D	0.000000	1	0.81001	D	2.675	0.78361	M	0.45	0.56446	T	-6.33	0.90895	D	0.951	0.97961	-0.3154	0.74551	T	0.373	0.73190	T	10	0.88355136	0.87673	D	0.060271	0.67946	D	0.554	0.81601	0.88	0.96835	0.770159368578	0.76805	0.8837718769751967	0.88345	0.752528923847	0.63843	0.763409495354	0.76438	T	0.434068	0.78128	T	0.184588	0.72465	D	0.208899	0.83605	D	0.852344870567322	0.50369	D	0.941406	0.78138	D	0.76802844	0.81930	0.7899414	0.87642	0.76802844	0.81931	0.7899414	0.87643	-14.624	0.94908	D	.	.	0.983	0.91974	P	.;.;.;.	.;.;.;.	5.761694	0.93432	33	0.99938903973186144	0.99734	0.98862	0.87844	D	AEFDBI	0.922742	0.89816	D	0.874795033258555	0.90473	10.41919	0.864404719186989	0.93830	12.30942	0.999999999999988	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.83	5.83	0.93059	7.185000	0.77253	4.842000	0.45294	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.126	0.97980	851	0.35303	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2712.98	33	chr1	223229359	.	C	T	2712.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=916;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=0.377;SOR=0.672	GT:AD:DP:GQ:PL	0/1:96,103:199:99:2727,0,2299	20	0	1	0
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|1:52,20,0,0:72:99:0|1:225353860_A_G:331,0,1720,323,1817,2190,323,1817,2190,2190:225353860	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|1:52,20,0,0:72:99:0|1:225353860_A_G:331,0,1720,323,1817,2190,323,1817,2190,2190:225353860	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|1:52,20,0,0:72:99:0|1:225353860_A_G:331,0,1720,323,1817,2190,323,1817,2190,2190:225353860	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|1:52,9,11:72:12:0|1:225353860_A_G:331,0,1720,12,1722,2001:225353860	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	0/1:52,9,11,0:72:12:.:.:331,0,1720,12,1722,2001,323,1817,1960,2190	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	0/1:52,9,11,0:72:12:.:.:331,0,1720,12,1722,2001,323,1817,1960,2190	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	0/1:52,9,11,0:72:12:.:.:331,0,1720,12,1722,2001,323,1817,1960,2190	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	0/1:66,25,4:95:11:11,0,1054,235,1259,3148	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	0/1:66,25,4:95:11:11,0,1054,235,1259,3148	3	0	12	4
chr1	229508170	229508170	G	C	exonic	NUP133	.	nonsynonymous SNV	NUP133:NM_018230:exon1:c.C80G:p.S27C,	.	.	0	225	1	0	0	1	0.00221729	.	.	2126028	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.845	P	0.533	P	0.025	N	0.983	D	0.69	N	1.85	T	-0.878	T	0.132	T	0.374	4.604	25.1	5.52	2.593	5.213	17.613	0.074	0.0562517232202	.	.	5.92e-05	0.0005	0	0	0.0006	0	0	0	2.59e-05	4	154602	rs745951330	1.389e-05	1.505e-05	9.663e-06	1.818e-05	0.0002	9.07e-06	7.38e-06	4.191e-05	2.547e-05	0.0001	4.768e-05	0	0	0.0002	0.0002	9.068e-07	5.059e-05	0	4.598e-05	4.596e-05	1.284e-05	8.066e-05	0.0002	2.108e-05	1.526e-05	7.887e-05	5.584e-05	0.0002	0	0	0	0	0	0	0	0	0	0.016	0.51853	D	0.028	0.54934	D	0.845	0.46707	P	0.533	0.48638	P	0.024763	0.26205	N	0.442604	0.983232	0.39989	D	2.25	0.63811	M	1.85	0.24472	T	-0.83	0.22727	N	0.469	0.50508	-0.8782	0.49903	T	0.132	0.44288	T	10	0.27013004	0.44543	T	0.056252	0.66537	D	0.074	0.21613	0.162	0.06618	0.553185271108	0.54975	0.4188808952318151	0.41804	0.623551032226	0.56587	0.540426552296	0.44506	T	0.22134	0.58489	T	-0.289308	0.09705	T	-0.355788	0.38541	T	0.443001538515091	0.30540	T	0.708429	0.31914	T	0.21402718	0.43797	0.22009239	0.46772	0.21402718	0.43797	0.22009239	0.46771	-8.409	0.63825	D	.	.	0.098	0.16187	B	.	.	5.020403	0.83434	28.0	0.99475968227117118	0.66579	0.82345	0.41586	D	ALL	0.509439	0.53890	D	0.343409440542453	0.58391	4.011184	0.411218814900698	0.62261	4.438783	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.52	5.52	0.82153	5.437000	0.66293	6.549000	0.55905	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.677000	0.33454	0.0:0.0:1.0:0.0	17.613	0.87960	884	0.28482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	723.98	36	chr1	229508170	.	G	C	723.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=768;ExcessHet=0.0000;FS=0.878;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.40;ReadPosRankSum=0.601;SOR=0.580	GT:AD:DP:GQ:PL	0/1:47,30:77:99:738,0,1279	20	0	1	0
chr1	230357055	230357055	C	T	exonic	PGBD5	.	nonsynonymous SNV	PGBD5:NM_001258311:exon2:c.G598A:p.A200T,	.	.	429	1057	36	0	0	36	0.0167442	.	.	696566	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.999	D	0.000	D	1.000	D	0.805	L	2.25	T	-1.157	T	0.060	T	0.937	5.497	35	6.03	2.861	5.953	20.557	0.358	.	0.0045	0.00698882	0.0068	0.0008	0.0033	0	0.0065	0.0058	0.0088	0.0205	0.0063259	978	154602	rs41315609	0.0063	0.0063	0.0058	0.0069	0.0208	0.0062	0.0062	0.0200	0.0196	0.0009	0.0029	0.0030	2.519e-05	0.0076	0.0132	0.0058	0.0057	0.0208	0.0052	0.0052	0.0048	0.0056	0.0203	0.0049	0.0048	0.0171	0.0159	0.0011	0.0088	0.0041	0.0017	0.0006	0.0072	0.0136	0.0070	0.0033	0.0203	0.019	0.50132	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	2.25	0.17761	T	-1.97	0.45587	N	0.819	0.81459	-1.1567	0.00839	T	0.060	0.25237	T	10	0.008564383	0.00194	T	.	.	.	0.358	0.67872	.	.	0.198526703765	0.19489	0.6185808216366527	0.61791	1.03234423226	0.75462	0.636188805103	0.58023	T	.	.	.	-0.140888	0.29750	T	0.0292734	0.72232	D	0.0248253129137804	0.01249	T	0.925008	0.72455	D	0.43868607	0.63317	0.5046682	0.71369	0.43868607	0.63318	0.5046682	0.71369	-7.423	0.57066	T	.	.	0.175	0.52102	B	.;.	.;.	4.125597	0.61694	24.4	0.99934615814858752	0.99535	0.98341	0.81803	D	AEFBI	0.851227	0.76807	D	0.541228674228767	0.69549	5.372841	0.552156647955467	0.71547	5.671552	0.999999999999823	0.74766	0.833774	0.99917	0	0.59043	0.45803	0	0.0	0.00061	3	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	6.034000	0.70575	7.554000	0.60334	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.738000	0.35369	0.0:1.0:0.0:0.0	20.557	0.99307	835	0.38313	PiggyBac transposable element-derived protein;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4017.11	33	chr1	230357055	.	C	T	4017.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.04;DP=1007;ExcessHet=0.1072;FS=5.781;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=-1.461e+00;SOR=0.991	GT:AD:DP:GQ:PL	0/1:80,77:157:99:1961,0,1930	19	0	2	0
chr1	231163725	231163727	GCC	-	exonic	TRIM67	.	nonframeshift deletion	TRIM67:NM_001004342:exon1:c.756_758del:p.P260del,	.	.	279	1230	13	0	0	13	0.00525677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0041	0	0	0	0	0.0038	0	0.0046	0.0002689	7	26028	rs774379585	0.0007	0.0061	0.0006	0.0007	0.0024	0.0006	0.0006	0.0021	0.0020	0.0004	0.0022	0.0008	0.0007	0.0013	0.0006	0.0005	0.0007	0.0024	3.968e-05	9.857e-05	2.585e-05	5.417e-05	0.0006	1.725e-05	1.135e-05	0.0002	9.029e-05	0	0	0	0	0	9.625e-05	0	2.962e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	88.94	45	chr1	231163724	.	AGCC	A	88.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.710e-01;DP=791;ExcessHet=0.0000;FS=1.988;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.17;ReadPosRankSum=1.34;SOR=0.790	GT:AD:DP:GQ:PL	0/1:36,5:41:99:103,0,1463	20	0	1	0
chr1	234429645	234429645	C	T	exonic	TARBP1	.	stopgain	TARBP1:NM_005646:exon16:c.G2642A:p.W881X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	8.437	40	5.4	2.683	5.634	19.526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.863e-07	6.84e-07	0	1.38e-06	9.008e-07	0	0	.	.	0	0	0	0	0	0	9.008e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.153	0.15749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549544	0.95746	D	0.551606	0.95683	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	10.041753	0.99528	44	0.99723929621328888	0.82266	0.94962	0.62939	D	AEFDBHCI	0.044259	0.07099	N	0.921006176346967	0.92749	11.60646	0.805710804841035	0.90188	10.29482	0.999999994415681	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	5.686000	0.67874	7.595000	0.61372	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.526	0.95199	952	0.10565	.	.	.	.	.	.	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	1287.98	33	chr1	234429645	.	C	T	1287.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.653e+00;DP=852;ExcessHet=0.0000;FS=4.123;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.40;ReadPosRankSum=0.910;SOR=0.269	GT:AD:DP:GQ:PL	0/1:20,50:70:99:1302,0,534	20	0	1	0
chr1	240207469	240207469	T	G	exonic	FMN2	.	nonsynonymous SNV	FMN2:NM_020066:exon5:c.T2657G:p.M886R	Mental retardation, autosomal recessive 47, Autosomal recessive	.	388	1127	7	0	0	7	0.00309598	.	.	439121	not_provided|FMN2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0	B	0.001	B	0.674	N	1.000	N	0.345	N	1.84	T	-0.985	T	0.015	T	0.321	-1.180	0.083	-0.303	-0.171	-0.400	5.343	0.015	.	0.0055	0.00279553	0.0063	0.0011	0.0022	0	0.0254	0.0078	0.0088	0.0016	0.0057955	896	154602	rs146874723	0.0067	0.0067	0.0068	0.0066	0.0070	0.0066	0.0065	0.0069	0.0068	0.0010	0.0018	0.0006	0	0.0239	0.0007	0.0070	0.0066	0.0023	0.0054	0.0054	0.0052	0.0056	0.0071	0.0051	0.0049	0.0066	0.0064	0.0009	0	0.0013	0.0012	0.0002	0.0240	0	0.0071	0.0029	0.0013	0.01	0.56456	D	0.401	0.14961	T	0.0	0.02946	B	0.001	0.04355	B	0.673731	0.10318	N	0.837570	1	0.08975	N	1.61	0.41143	L	1.84	0.24656	T	-1.01	0.26639	N	0.325	0.36569	-0.9846	0.33927	T	0.015	0.06042	T	9	0.0032209456	0.00055	T	.	.	.	0.015	0.02232	.	.	0.332276917938	0.32835	0.2759338393233707	0.27506	0.141650727952	0.15964	0.40539598465	0.25819	T	0.069594	0.33748	T	-0.530123	0.00383	T	-0.527012	0.19587	T	0.0050111453479846	0.00054	T	0.285271	0.05070	T	0.40227765	0.60890	0.23304828	0.48482	0.40227765	0.60891	0.23304828	0.48481	-5.549	0.42324	T	.	.	0.129	0.27702	B	.	.	0.601432	0.09701	6.469	0.39282231865970124	0.02701	0.08145	0.14109	N	AEFDBI	0.083509	0.16918	N	-1.32827365909834	0.03355	0.1497498	-1.36155289546292	0.03672	0.1717486	0.0124711357128256	0.12332	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	3.64	-0.303	0.12158	-0.247000	0.08884	-0.938000	0.06858	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.857000	0.40602	0.0:0.099:0.3407:0.5603	5.343	0.15297	976	0.04745	Formin, FH2 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	1604.98	34	chr1	240207469	.	T	G	1604.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.68;DP=1138;ExcessHet=0.0000;FS=0.665;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=0.087;SOR=0.792	GT:AD:DP:GQ:PL	0/1:80,59:139:99:1619,0,2181	20	0	1	0
chr1	240207806	240207806	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1124	331	37	24	6	91	0.113788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	6284.06	46	chr1	240207806	.	C	T,*	6284.06	.	AC=10,1;AF=0.357,0.036;AN=28;BaseQRankSum=0.800;DP=850;ExcessHet=4.1217;FS=8.259;InbreedingCoeff=-0.1533;MLEAC=13,1;MLEAF=0.464,0.036;MQ=50.66;MQRankSum=0.217;QD=15.95;ReadPosRankSum=0.00;SOR=1.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:25,24,0:49:99:.:.:571,0,579,645,650,1295	4	1	8	7
chr1	241879152	241879152	C	T	exonic	EXO1	.	nonsynonymous SNV	EXO1:NM_003686:exon11:c.C1918T:p.P640S	.	.	424	1059	37	2	0	41	0.0189903	.	.	3199359	EXO1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.94	T	0.006	B	0.004	B	0.758	N	1.000	N	0.255	N	1.51	T	-0.991	T	0.023	T	0.681	0.737	7.913	1.31	0.381	-0.534	5.583	0.008	.	0.0069	0.019369	0.0130	0.0072	0.0026	0.0035	0.0039	0.0061	0.0122	0.0607	0.0118692	1835	154602	rs61736331	0.0091	0.0091	0.0077	0.0106	0.0565	0.0090	0.0089	0.0552	0.0547	0.0072	0.0030	0.0006	0.0190	0.0036	0.0151	0.0058	0.0096	0.0565	0.0077	0.0077	0.0073	0.0080	0.0559	0.0073	0.0071	0.0504	0.0483	0.0073	0	0.0033	0.0009	0.0083	0.0028	0.0068	0.0066	0.0071	0.0559	0.676	0.04482	T	0.842	0.03589	T	0.003	0.13644	B	0.002	0.10090	B	0.758298	0.09644	N	0.899174	1	0.08975	N	1.175	0.29870	L	1.51	0.30937	T	-0.55	0.16799	N	0.024	0.00571	-0.9914	0.32244	T	0.023	0.09604	T	10	0.0018211603	0.00024	T	.	.	.	0.208	0.49714	.	.	.	.	0.156109575900888	0.15531	0.0490915211193	0.05371	0.233549177647	0.02241	T	0.097551	0.40049	T	-0.447715	0.01165	T	-0.373393	0.36493	T	0.00130520188550032	0.00013	T	0.60024	0.22396	T	0.016101342	0.00176	0.024544803	0.00477	0.021404697	0.00742	0.026807906	0.00792	-2.855	0.08701	T	.	.	0.071	0.11076	B	.;.;.	.;.;.	0.130489	0.05263	1.762	0.47857533652013584	0.03946	0.02927	0.07740	N	AEFBI	0.034876	0.04397	N	-1.24310704258637	0.04391	0.1980764	-1.17819292073773	0.06275	0.3015582	0.738177102866387	0.23167	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.72	1.31	0.20837	-0.510000	0.06411	-1.934000	0.04472	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.298000	0.24452	0.0:0.5173:0.1405:0.3422	5.583	0.16540	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1691.98	33	chr1	241879152	.	C	T	1691.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.43;DP=1475;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=0.776;SOR=0.711	GT:AD:DP:GQ:PL	0/1:84,62:146:99:1706,0,2267	20	0	1	0
chr1	244055011	244055011	G	A	exonic	ZBTB18	.	nonsynonymous SNV	ZBTB18:NM_006352:exon1:c.G1210A:p.A404T	.	.	0	1518	4	0	0	4	0.00131579	.	.	746368	not_provided|Intellectual_disability,_autosomal_dominant_22	MedGen:C3661900|MONDO:MONDO:0012869,MedGen:CN029689,OMIM:612337	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.999	D	0.99	D	0.000	D	1.000	D	0.345	N	1.27	T	-1.074	T	0.114	T	0.57	2.002	12.65	5.84	2.779	6.307	20.138	0.242	0.0169052395807	0.0005	0.00179712	0.0005	0	0.0003	0	0	0.0003	0	0.0018	0.0004204	65	154602	rs140492097	0.0003	0.0003	0.0003	0.0003	0.0021	0.0003	0.0003	0.0012	0.0011	2.987e-05	0.0002	0	0	0	0.0021	0.0002	0.0005	0.0014	0.0002	0.0002	0.0002	0.0002	0.0025	0.0002	0.0001	0.0014	0.0011	2.405e-05	0	0.0001	0	0	0	0	0.0003	0	0.0025	0.272	0.15930	T	0.824	0.03783	T	0.999	0.77913	D	0.978	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.255	0.31814	L	1.27	0.36146	T	-0.39	0.13611	N	0.378	0.47022	-1.0740	0.08556	T	0.114	0.40536	T	10	0.008904636	0.00202	T	0.016905	0.38384	T	0.242	0.54781	.	.	0.228066490088	0.22430	0.5581485648392495	0.55741	0.803511162312	0.66361	0.628293514252	0.56903	T	0.090235	0.38542	T	-0.337024	0.05597	T	-0.270118	0.47807	T	0.114651684765765	0.13899	T	0.820118	0.47860	T	0.26469877	0.49537	0.36158037	0.61579	0.26469877	0.49537	0.36158037	0.61578	-2.095	0.03597	T	.	.	0.135	0.37709	B	.;.	.;.	3.913103	0.57078	23.8	0.98910986890892161	0.48363	0.95280	0.64110	D	AEFDBHCIJ	0.591428	0.58753	D	0.349466668556827	0.58712	4.045132	0.418163463230847	0.62696	4.48949	1.0	0.98316	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	8.023000	0.89142	7.686000	0.65553	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.0:1.0:0.0	20.138	0.98040	809	0.43032	.;.	.	.	.	.	.	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	2517.98	34	chr1	244055011	.	G	A	2517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.250e-01;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.64;ReadPosRankSum=-9.800e-02;SOR=0.654	GT:AD:DP:GQ:PL	0/1:81,91:172:99:2532,0,2160	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	2|2:0,0,91:91:99:1|1:248361635_ATGGGACTCTTCAGACAATCCAAACATCCAATGGCCAATATCACCTGGATGGCCAACCACACTGGATGGTCGGATTTCATCCTGT_A:4128,4128,4128,291,291,0:248361635	8	0	1	1
chr1	248473915	248473915	C	A	exonic	OR2T3	.	nonsynonymous SNV	OR2T3:NM_001005495:exon1:c.C565A:p.L189M,	.	.	433	1078	10	1	0	12	0.00553506	.	.	2431944	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.36	T	0.873	P	0.417	B	.	.	1.000	N	1.805	L	8.51	T	-1.046	T	0.001	T	0.156	0.705	7.761	-4.74	-1.359	-4.147	6.217	0.074	0.0011409262137	.	.	0.0003	0	0	0	0	0.0001	0.0023	0.0014	3.84e-05	1	26028	rs775000698	7.142e-05	0.0002	5.107e-05	9.196e-05	0.0012	5.994e-05	5.598e-05	0.0006	0.0004	0	2.251e-05	3.857e-05	0	0	0.0012	2.919e-05	0.0002	0.0006	7.197e-06	5.323e-05	0	1.485e-05	0.0003	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.119	0.28026	T	0.22	0.25907	T	0.873	0.47975	P	0.417	0.44992	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	8.51	0.00206	T	-0.75	0.21003	N	0.131	0.12627	-1.0457	0.15621	T	0.001	0.00188	T	9	0.031590313	0.01296	T	0.001141	0.01410	T	0.074	0.21613	.	.	0.279370189704	0.27548	0.04203864411165852	0.04148	.	.	0.219600051641	0.01287	T	0.006158	0.05598	T	-0.584538	0.00181	T	-0.662866	0.08073	T	0.0207705477086129	0.00777	T	.	.	.	0.12071415	0.28400	0.07521616	0.16538	0.12071415	0.28400	0.07521616	0.16538	-6.057	0.46753	T	.	.	0.188	0.40441	B	.	.	-0.433013	0.02092	0.195	0.91948184627700358	0.21275	0.00544	0.02501	N	AEFI	0.038292	0.05397	N	-0.984749033474567	0.08929	0.4205713	-1.25784726471624	0.05016	0.2380126	0.0569055979939047	0.15073	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.37	-4.74	0.03013	-6.973000	0.00060	-20.000000	0.00162	-0.587000	0.04669	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.3597:0.2818:0.3585	6.217	0.19873	982	0.03397	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	77.98	43	chr1	248473915	.	C	A	77.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.719e+00;DP=1617;ExcessHet=0.0000;FS=4.593;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=29.81;MQRankSum=-1.079e+00;QD=3.90;ReadPosRankSum=1.05;SOR=0.730	GT:AD:DP:GQ:PL	0/1:15,5:20:92:92,0,448	20	0	1	0
chr1	248574193	248574193	G	T	exonic	OR2T34	.	nonsynonymous SNV	OR2T34:NM_001001821:exon1:c.C565A:p.L189M,	.	.	418	1078	26	0	0	26	0.0119157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.873	P	0.417	B	.	.	1.000	N	1.815	L	8.51	T	-1.034	T	0.000	T	0.134	1.110	9.527	-2.84	-0.570	-5.532	1.217	0.057	0.000672910656085	.	0.000399361	0.0006	0	0.0003	0	0	0.0003	0.0011	0.0025	7.68e-05	2	26028	rs575563477	0.0003	0.0004	0.0002	0.0004	0.0042	0.0003	0.0002	0.0029	0.0025	6.212e-05	0.0001	0.0005	0	1.872e-05	0.0042	0.0001	0.0005	0.0022	0.0003	0.0003	0.0002	0.0003	0.0015	0.0002	0.0002	0.0007	0.0005	0.0001	0	0.0001	0.0009	0	0	0.0034	0.0003	0.0015	0.0015	0.12	0.27904	T	0.212	0.26549	T	0.873	0.47975	P	0.417	0.44992	B	.	.	.	.	1	0.08975	N	1.775	0.45938	L	8.51	0.00206	T	-0.8	0.22078	N	0.237	0.26717	-1.0337	0.19268	T	0.000	0.00152	T	9	0.020856768	0.00488	T	6.73E-4	0.00383	T	0.057	0.16321	.	.	0.369144000639	0.36531	0.034143668740740526	0.03362	.	.	0.239755779505	0.02768	T	0.00194	0.01356	T	-0.624457	0.00103	T	-0.720207	0.04786	T	0.0251596211738474	0.01294	T	0.751925	0.37414	T	0.11390019	0.26896	0.06288149	0.12372	0.11390019	0.26895	0.06288149	0.12371	-5.839	0.44913	T	.	.	0.167	0.36850	B	.	.	-0.401801	0.02206	0.220	0.97647984064209736	0.35120	0.00387	0.01950	N	AEFGI	0.021722	0.01000	N	-0.901263227136625	0.10813	0.5185768	-1.15814268899954	0.06623	0.3194061	2.82967556221275E-5	0.03498	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.51	-2.84	0.05408	-7.273000	0.00051	-20.000000	0.00162	-0.466000	0.05104	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.308:0.1514:0.3876:0.153	1.217	0.01800	982	0.03397	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3116.98	67	chr1	248574193	.	G	T	3116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.234e+00;DP=3345;ExcessHet=0.0000;FS=9.730;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.08;MQRankSum=-1.088e+01;QD=10.19;ReadPosRankSum=-3.689e+00;SOR=0.383	GT:AD:DP:GQ:PL	0/1:168,138:306:99:3131,0,4618	20	0	1	0
chr2	8682467	8682467	C	T	exonic	ID2	.	nonsynonymous SNV	ID2:NM_002166:exon1:c.C302T:p.T101M,	.	.	.	.	.	.	.	.	.	.	.	2375381	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.005	B	0.004	B	0.000	D	1.000	D	1.5	L	.	.	-0.824	T	0.213	T	0.381	3.628	18.45	5.56	2.610	5.661	17.695	0.084	0.00384570315469	.	.	8.31e-05	0	0	0	0	0.0002	0	0	8.41e-05	13	154602	rs200965294	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0	6.708e-05	0	2.519e-05	0	0	0.0003	0.0002	0	6.57e-05	6.567e-05	3.854e-05	9.414e-05	0.0001	3.516e-05	2.616e-05	6.804e-05	5.087e-05	0	0	6.54e-05	0	0	0	0	0.0001	0	0	0.06	0.37326	T	0.026	0.55759	D	0.005	0.12996	B	0.004	0.10090	B	0.000004	0.62929	D	0.139770	0.999998	0.58761	D	2.34	0.67151	M	.	.	.	-2.33	0.51646	N	0.621	0.69649	-0.8238	0.53695	T	0.213	0.57334	T	9	0.27335006	0.44883	T	0.003846	0.08992	T	0.084	0.24469	0.152	0.05544	0.23798241625	0.23396	0.5467115967781618	0.54597	0.439968114871	0.44012	0.729078173637	0.71372	T	0.799813	0.94883	D	-0.155278	0.27488	T	-0.205777	0.54099	T	0.187841265400401	0.19716	T	0.693531	0.30321	T	0.23329414	0.46132	0.1393935	0.33261	0.23329414	0.46132	0.1393935	0.33260	-4.835	0.34997	T	.	.	0.130	0.28948	B	.;.;.	.;.;.	4.237788	0.64232	24.7	0.99676861348092716	0.78977	0.96069	0.67392	D	AEFDBHCI	0.895952	0.83652	D	0.111489856410132	0.46999	2.931797	0.29502357940124	0.55249	3.688035	1.0	0.98316	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.581474	0.35302	0	.	.	5.56	5.56	0.83678	5.737000	0.68246	4.775000	0.44799	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.695	0.88185	969	0.06854	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1566.98	38	chr2	8682467	.	C	T	1566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=918;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.87;ReadPosRankSum=0.894;SOR=0.692	GT:AD:DP:GQ:PL	0/1:127,72:199:99:1581,0,3089	20	0	1	0
chr2	20667365	20667365	-	GGCGGCGGC	exonic	GDF7	.	nonframeshift insertion	GDF7:NM_182828:exon1:c.126_127insGGCGGCGGC:p.G50_R51insGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6818	3157.26	2	chr2	20667362	.	GGGC	GGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGCGGC,G	3157.26	.	AC=11,3,2;AF=0.500,0.136,0.091;AN=22;DP=140;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6169;MLEAC=18,5,2;MLEAF=0.818,0.227,0.091;MQ=60.00;QD=28.56;SOR=0.766	GT:AD:DP:GQ:PL	1/1:0,7,0,0:7:21:314,21,0,315,21,315,315,21,315,315	3	5	0	10
chr2	20667365	20667365	-	GGCGGCGGCGGCGGCGGC	exonic	GDF7	.	nonframeshift insertion	GDF7:NM_182828:exon1:c.126_127insGGCGGCGGCGGCGGCGGC:p.G50_R51insGGGGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6818	3157.26	2	chr2	20667362	.	GGGC	GGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGCGGC,G	3157.26	.	AC=11,3,2;AF=0.500,0.136,0.091;AN=22;DP=140;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6169;MLEAC=18,5,2;MLEAF=0.818,0.227,0.091;MQ=60.00;QD=28.56;SOR=0.766	GT:AD:DP:GQ:PL	1/1:0,7,0,0:7:21:314,21,0,315,21,315,315,21,315,315	3	5	0	10
chr2	21002482	21002482	T	C	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon29:c.A12940G:p.I4314V,	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	1	1508	13	0	0	13	0.00429185	.	.	238599	not_specified|Familial_hypobetalipoproteinemia_1|Hypercholesterolemia,_autosomal_dominant,_type_B|Cardiovascular_phenotype|not_provided|Hypercholesterolemia,_familial,_1|Familial_hypercholesterolemia	MedGen:CN169374|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.47	T	0.01	B	0.007	B	0.031	N	0.736	D	1.195	L	5.83	T	-0.887	T	0.002	T	0.089	0.663	7.554	-0.094	0.110	-0.104	6.437	0.010	0.0135688463301	0.0068	0.00419329	0.0059	0.0015	0.0016	0	0.0026	0.0090	0.0055	0.0038	0.0061642	953	154602	rs72654423	0.0079	0.0079	0.0080	0.0077	0.0095	0.0078	0.0077	0.0093	0.0092	0.0013	0.0020	3.833e-05	5.042e-05	0.0029	0.0026	0.0095	0.0064	0.0037	0.0055	0.0055	0.0060	0.0050	0.0098	0.0052	0.0051	0.0091	0.0089	0.0015	0	0.0035	0	0.0002	0.0022	0.0068	0.0098	0.0024	0.0056	0.281	0.15458	T	0.817	0.03863	T	.	.	.	.	.	.	0.031288	0.25189	N	0.337595	1	0.08975	N	.	.	.	5.83	0.00652	T	-0.57	0.17210	N	0.05	0.02179	-0.8875	0.49147	T	0.002	0.00556	T	10	0.0038571954	0.00073	T	0.013569	0.33074	T	0.010	0.01040	.	.	0.231873229951	0.22792	0.12268873498809205	0.12194	0.0333722288845	0.03491	0.462339639664	0.33631	T	.	.	.	-0.674738	0.00051	T	-0.731603	0.04255	T	0.00316936208187777	0.00033	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.26886	B	.	.	-0.153083	0.03340	0.587	0.57643191457303833	0.05815	0.18874	0.20437	N	AEFBCI	0.377377	0.46117	N	-1.01349481841357	0.08324	0.3898555	-1.04597286067555	0.08791	0.4339804	0.868844812583667	0.25373	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.41	-0.0944	0.12981	-0.085000	0.11215	0.251000	0.16428	0.609000	0.47794	0.002000	0.15269	0.034000	0.21380	0.010000	0.09038	0.0:0.1773:0.3958:0.4269	6.437	0.21031	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	1834.98	40	chr2	21002482	.	T	C	1834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.375e+00;DP=1619;ExcessHet=0.0000;FS=0.644;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.80;ReadPosRankSum=-7.460e-01;SOR=0.623	GT:AD:DP:GQ:PL	0/1:60,73:133:99:1849,0,1647	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	0/1:33,16:49:76:.:.:76,0,382	7	0	13	1
chr2	27212400	27212400	C	T	exonic	ATRAID	.	nonsynonymous SNV	ATRAID:NM_001170795:exon1:c.C32T:p.T11I,	.	.	413	1067	42	0	0	42	0.0193015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.257	N	1.000	N	0	N	0.91	T	-1.063	T	0.038	T	0.065	1.582	11.25	-8.91	-1.630	-2.725	2.698	0.006	0.00296217740148	0.0003	0.000798722	0.0034	0.0005	0.0026	0.0014	0	0.0033	0.0059	0.0044	0.0010284	159	154602	rs201498828	0.0012	0.0012	0.0010	0.0013	0.0286	0.0011	0.0011	0.0250	0.0237	0.0004	0.0015	0.0018	2.789e-05	0.0002	0.0286	0.0008	0.0020	0.0046	0.0009	0.0009	0.0009	0.0010	0.0039	0.0008	0.0008	0.0026	0.0021	0.0003	0	0.0012	0.0009	0	0	0.0306	0.0011	0.0024	0.0039	0.296	0.14694	T	0.29	0.22359	T	0.0	0.02946	B	0.0	0.01387	B	0.257061	0.03684	N	1.463700	1	0.20048	N	0	0.06538	N	0.91	0.44856	T	-1.02	0.26843	N	0.014	0.02179	-1.0632	0.10974	T	0.038	0.16246	T	10	0.0035203993	0.00063	T	0.002962	0.06309	T	0.006	0.00375	.	.	0.0716867268079	0.06686	0.2802022403104454	0.27933	0.0688238525608	0.07705	0.495511114597	0.38203	T	0.001769	0.01195	T	-0.681762	0.00047	T	-0.752088	0.03405	T	0.0480647877707699	0.05155	T	0.29917	0.05580	T	0.02529811	0.01453	0.037971	0.03565	0.02529811	0.01453	0.037971	0.03565	-4.968	0.36568	T	.	.	0.090	0.12418	B	.;.;.	.;.;.	-0.876831	0.00965	0.038	0.78579484111606301	0.12362	0.00580	0.02616	N	ALL	0.280443	0.39426	N	-1.96612234714031	0.00250	0.01071068	-2.04380727462077	0.00247	0.01088824	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.45	-8.91	0.00669	-2.451000	0.01083	-0.738000	0.07632	-1.278000	0.01271	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.149:0.392:0.1422:0.3168	2.698	0.04823	252	0.90114	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	581.98	38	chr2	27212400	.	C	T	581.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.053;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=0.581;SOR=0.610	GT:AD:DP:GQ:PL	0/1:21,24:45:99:596,0,517	20	0	1	0
chr2	27470935	27470935	G	C	exonic	IFT172	.	nonsynonymous SNV	IFT172:NM_015662:exon16:c.C1685G:p.T562S,	Retinitis pigmentosa 71, Autosomal recessive;Short-rib thoracic dysplasia 10 with or without polydactyly, Autosomal recessive	.	436	1022	63	1	0	65	0.0308203	.	.	451000	not_provided|Retinitis_pigmentosa_71|Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly|not_specified	MedGen:C3661900|MONDO:MONDO:0014618,MedGen:C4225342,OMIM:616394,Orphanet:791|MONDO:MONDO:0014284,MedGen:C3810175,OMIM:615630,Orphanet:474|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.66	T	0.002	B	0.003	B	0.000	N	1.000	D	-0.345	N	3.5	T	-0.883	T	0.007	T	0.005	1.867	12.20	5.36	2.503	9.024	17.646	0.159	.	0.0052	0.00279553	0.0072	0.0017	0.0043	0.0001	0.0036	0.0096	0.0139	0.0081	0.0065782	1017	154602	rs61743977	0.0062	0.0062	0.0060	0.0064	0.0378	0.0061	0.0060	0.0336	0.0321	0.0010	0.0046	0.0219	2.533e-05	0.0032	0.0378	0.0060	0.0079	0.0082	0.0049	0.0049	0.0049	0.0049	0.0070	0.0046	0.0045	0.0065	0.0063	0.0010	0	0.0038	0.0196	0	0.0035	0.0612	0.0070	0.0066	0.0064	0.388	0.10909	T	0.14	0.33554	T	0.002	0.09854	B	0.003	0.08700	B	0.000005	0.62929	N	0.108408	0.819621	0.34757	D	0.55	0.14455	N	3.5	0.05014	T	0.26	0.04380	N	0.093	0.07262	-0.8830	0.49521	T	0.007	0.02478	T	10	0.0037594736	0.00070	T	.	.	.	0.159	0.41286	0.406	0.43902	0.112648838833	0.10856	0.1681209475804747	0.16732	0.158194110733	0.17867	0.332134783268	0.15256	T	0.105979	0.41692	T	-0.648558	0.00074	T	-0.699117	0.05874	T	0.0478384942027357	0.05115	T	0.679032	0.28770	T	0.07482146	0.16818	0.11939129	0.28818	0.07310221	0.16309	0.13313392	0.31930	-0.821	0.00821	T	0.05207728016525325	0.00985	0.073	0.04764	B	.	.	2.911773	0.38627	20.8	0.91152418099870303	0.20406	0.99456	0.96256	D	AEFBI	0.880369	0.80696	D	-0.189368090475749	0.33575	1.906461	0.0649026428597816	0.42799	2.595053	0.99999999862882	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	9.142000	0.93794	9.823000	0.81815	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:0.0:1.0:0.0	17.646	0.88052	72	0.96948	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1657.98	37	chr2	27470935	.	G	C	1657.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.402e+00;DP=816;ExcessHet=0.0000;FS=0.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=0.681;SOR=0.765	GT:AD:DP:GQ:PL	0/1:61,69:130:99:1672,0,1606	20	0	1	0
chr2	47905552	47905554	GCT	-	exonic	FBXO11	.	nonframeshift deletion	FBXO11:NM_001190274:exon1:c.167_169del:p.Q56del,	.	.	419	1077	19	0	7	26	0.00874367	.	.	1356566	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0219	0	0	0	0	0.0109	0	0.0282	3.84e-05	1	26028	rs746953076	0.0013	0.0065	0.0012	0.0013	0.0028	0.0012	0.0012	0.0022	0.0020	0.0014	0.0022	0.0010	0.0015	0.0022	0.0007	0.0012	0.0012	0.0028	0.0002	0.0003	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0.0003	0	0.0001	0	0	0.0001	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	855.36	33	chr2	47905551	.	GGCT	G,GGCTGCT	855.36	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-7.820e-01;DP=621;ExcessHet=0.3300;FS=2.208;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=-1.117e+00;SOR=0.379	GT:AD:DP:GQ:PL	0/1:24,4,0:28:96:96,0,972,168,984,1152	18	0	2	0
chr2	47905554	47905554	-	GCT	exonic	FBXO11	.	nonframeshift insertion	FBXO11:NM_001190274:exon1:c.166_167insAGC:p.Q56_P57insQ,	.	.	419	1077	19	0	7	26	0.00874367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	855.36	33	chr2	47905551	.	GGCT	G,GGCTGCT	855.36	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-7.820e-01;DP=621;ExcessHet=0.3300;FS=2.208;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=-1.117e+00;SOR=0.379	GT:AD:DP:GQ:PL	0/1:24,4,0:28:96:96,0,972,168,984,1152	18	0	2	0
chr2	48580986	48580986	G	T	exonic	STON1;STON1-GTF2A1L	.	nonsynonymous SNV	STON1-GTF2A1L:NM_001198594:exon1:c.G353T:p.G118V	.	.	432	1026	62	2	0	66	0.0311615	.	.	733507	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.938	D	0.074	N	1.000	N	1.955	M	2.83	T	-1.112	T	0.051	T	0.277	0.527	6.852	1.94	0.306	0.246	9.474	0.030	.	0.0026	0.00778754	0.0054	0.0013	0.0018	0.0001	0.0003	0.0040	0.0037	0.0300	0.0054851	848	154602	rs72824125	0.0049	0.0050	0.0044	0.0055	0.0274	0.0048	0.0048	0.0265	0.0261	0.0008	0.0021	0.0022	7.622e-05	0.0006	0.0149	0.0039	0.0057	0.0274	0.0040	0.0040	0.0036	0.0044	0.0297	0.0037	0.0036	0.0257	0.0242	0.0009	0	0.0058	0.0040	0	0.0003	0.0034	0.0044	0.0104	0.0297	0.002	0.78490	D	0.019	0.62352	D	0.679	0.50421	P	0.186	0.50118	B	0.073959	0.21314	N	0.440845	0.999999	0.08975	N	2.555	0.74557	M	2.67	0.12988	T	-2.11	0.48020	N	0.281	0.31925	-1.1121	0.02895	T	0.051	0.21806	T	10	0.004071653	0.00080	T	.	.	.	0.030	0.07022	.	.	0.461583377977	0.45782	0.30531859660048793	0.32329	0.00635658170257	0.00556	0.266003608704	0.05627	T	0.074824	0.35030	T	-0.530244	0.00383	T	-0.513485	0.20957	T	0.0225075360226289	0.00965	T	0.720328	0.33319	T	0.057194978	0.11353	0.089182906	0.20839	0.057194978	0.11352	0.089182906	0.20839	-2.982	0.09988	T	0.335890859238464	0.43380	0.098	0.26978	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.091475	0.04949	1.519	0.98612776587068196	0.43664	0.28104	0.23462	N	AEFBI	0.125934	0.24266	N	-0.309415810970022	0.28789	1.590911	-0.495834929041824	0.22269	1.20867	0.00737552665866971	0.11451	0.706548	0.73137	0	0.610034	0.51514	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.81	1.94	0.25058	0.279000	0.18532	0.831000	0.21948	0.665000	0.62972	0.005000	0.17040	0.853000	0.27411	0.112000	0.18829	0.0748:0.2703:0.655:0.0	9.474	0.38027	527	0.73864	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	5984.11	167	chr2	48580986	.	G	T	5984.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.835e+00;DP=2384;ExcessHet=0.1072;FS=0.522;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=-1.020e-01;SOR=0.614	GT:AD:DP:GQ:PL	0/1:148,147:295:99:3814,0,3832	19	0	2	0
chr2	55180656	55180656	G	A	exonic	CLHC1	.	nonsynonymous SNV	CLHC1:NM_001353785:exon6:c.C620T:p.T207I	.	.	430	1079	13	0	0	13	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.766	P	0.243	B	0.043	N	1.000	N	1.61	L	2.19	T	-1.045	T	0.007	T	0.261	1.642	11.45	3.22	0.862	1.280	4.188	0.025	.	0.0014	0.0107827	0.0051	0.0002	0.0012	0.0398	0.0077	0.0026	0.0110	0.0015	0.0047218	730	154602	rs76870665	0.0033	0.0033	0.0033	0.0034	0.0511	0.0033	0.0032	0.0492	0.0485	0.0002	0.0008	0.0039	0.0511	0.0086	0.0012	0.0016	0.0041	0.0020	0.0032	0.0032	0.0030	0.0034	0.0405	0.0030	0.0029	0.0360	0.0343	7.223e-05	0	0.0013	0.0049	0.0405	0.0072	0	0.0021	0.0043	0.0019	0.464	0.08634	T	0.228	0.25286	T	0.766	0.43754	P	0.243	0.38752	B	0.042740	0.23812	N	0.396846	1	0.18198	N	2.39	0.68882	M	2.18	0.18875	T	-1.62	0.39314	N	0.135	0.13626	-1.0448	0.15884	T	0.007	0.02399	T	10	0.0023792386	0.00035	T	.	.	.	0.025	0.05312	.	.	0.124217242631	0.12060	0.1570814942002049	0.15629	0.00918750411922	0.00832	0.358732521534	0.19201	T	0.002625	0.02014	T	-0.545462	0.00311	T	-0.519051	0.20390	T	0.00917395028099565	0.00116	T	0.734627	0.35069	T	0.06757886	0.14646	0.055721316	0.09825	0.07432854	0.16672	0.045785457	0.06238	-3.39	0.17424	T	0.2534411652156697	0.34282	0.097	0.16626	B	.;.;.	.;.;.	2.016777	0.25627	16.83	0.98784659867986335	0.46190	0.01783	0.05581	N	AEFDHCI	0.064635	0.12563	N	-0.228984072849751	0.31949	1.796694	-0.276013101367932	0.28890	1.61434	0.689165812533894	0.22568	0.638212	0.43195	0	0.667123	0.63270	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	5.98	3.22	0.36041	1.382000	0.33980	3.987000	0.40955	0.613000	0.49114	0.021000	0.19753	0.872000	0.27604	0.997000	0.79791	0.2467:0.0:0.5914:0.1618	4.188	0.09867	466	0.78352	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1667.98	38	chr2	55180656	.	G	A	1667.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.967e+00;DP=906;ExcessHet=0.0000;FS=1.517;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=-1.810e+00;SOR=0.511	GT:AD:DP:GQ:PL	0/1:53,66:119:99:1682,0,1446	20	0	1	0
chr2	72135320	72135320	C	T	exonic	CYP26B1	.	nonsynonymous SNV	CYP26B1:NM_001277742:exon2:c.G304A:p.E102K	Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies	.	0	1508	14	0	0	14	0.00462046	.	.	2142868	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.42	T	0.069	B	0.046	B	0.000	D	1.000	D	0.44	N	-0.33	T	-0.921	T	0.171	T	0.578	3.536	18.05	5.03	2.504	7.818	17.309	0.178	0.0168708821212	.	0.000399361	0.0002	0	8.643e-05	0.0009	0	0.0001	0.0011	0.0008	0.0002135	33	154602	rs201533354	0.0003	0.0003	0.0002	0.0003	0.0012	0.0002	0.0002	0.0010	0.0009	5.974e-05	0.0001	0	0.0009	0	0.0009	0.0002	0.0002	0.0012	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	9.231e-05	0.0005	0.0004	0	0	0	0	0.0006	0	0.0068	0.0002	0	0.0012	0.181	0.25979	T	0.2	0.31833	T	0.038	0.21002	B	0.046	0.24676	B	0.000004	0.62929	D	0.103713	0.999755	0.81001	D	1.395	0.35261	L	-0.33	0.68329	T	-0.74	0.20791	N	0.604	0.65416	-0.9209	0.45431	T	0.171	0.51197	T	10	0.061003387	0.07582	T	0.016871	0.38326	T	0.178	0.44724	.	.	0.76633401229	0.76419	0.6169291788472614	0.61624	0.509482412268	0.49079	0.647366881371	0.59611	T	0.093796	0.39285	T	-0.226625	0.17097	T	-0.187463	0.55829	T	0.0887437599528497	0.11067	T	0.929807	0.74042	D	0.32108235	0.54731	0.23576799	0.48830	0.32108235	0.54731	0.23576799	0.48829	-5.021	0.37067	T	.	.	0.088	0.11749	B	.;.;.;.	.;.;.;.	4.130489	0.61802	24.4	0.99813196290110684	0.89708	0.98581	0.84338	D	AEFDBI	0.906502	0.85936	D	-0.0195049013959334	0.40974	2.44262	0.192337846663805	0.49425	3.145944	0.999999948659284	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	5.03	5.03	0.67015	7.905000	0.86479	7.697000	0.66086	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.309	0.87091	920	0.19381	.;.;.;.	.	.	.	.	.	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	0.04762	2757.11	35	chr2	72135320	.	C	T	2757.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.00;DP=897;ExcessHet=0.1072;FS=0.526;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=0.862;SOR=0.775	GT:AD:DP:GQ:PL	0/1:43,58:101:99:1508,0,928	19	0	2	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	0/1:3,3,0:6:99:117,0,107,126,116,242	13	0	6	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	2/4:0,0,41,0,5,0:46:71:1889,1896,1965,183,202,71,1896,1965,202,1965,1692,1770,0,1770,1819,1896,1965,202,1965,1770,1965	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	2/4:0,0,41,0,5,0:46:71:1889,1896,1965,183,202,71,1896,1965,202,1965,1692,1770,0,1770,1819,1896,1965,202,1965,1770,1965	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	2/4:0,0,41,0,5,0:46:71:1889,1896,1965,183,202,71,1896,1965,202,1965,1692,1770,0,1770,1819,1896,1965,202,1965,1770,1965	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	2/4:0,0,41,0,5,0:46:71:1889,1896,1965,183,202,71,1896,1965,202,1965,1692,1770,0,1770,1819,1896,1965,202,1965,1770,1965	0	4	5	0
chr2	73519968	73519968	G	A	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon11:c.G9733A:p.A3245T	Alstrom syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	915021	Alstrom_syndrome|Cardiovascular_phenotype|not_specified|not_provided	MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64|MedGen:CN230736|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.728	P	0.457	P	0.083	N	1.000	D	1.525	L	3.13	T	-1.129	T	0.030	T	0.149	3.966	20.3	4.75	1.530	2.516	10.851	0.078	0.00304097776772	.	0.000199681	0.0001	0	0	0.0016	0	0	0	0.0001	0.00011	17	154602	rs200432874	4.378e-05	4.378e-05	4.628e-05	4.125e-05	0.0013	3.509e-05	3.193e-05	0.0010	0.0009	0	0	0	0.0013	0	0	0	8.279e-05	0.0001	6.566e-05	6.562e-05	6.425e-05	6.714e-05	0.0017	3.514e-05	2.615e-05	0.0009	0.0007	0	0	0	0	0.0017	0	0	0	0	0.0002	.	.	.	0.015	0.61642	D	.	.	.	.	.	.	0.083213	0.20765	N	0.412949	0.981333	0.25047	N	.	.	.	.	.	.	.	.	.	0.202	0.22998	-1.1286	0.01850	T	0.030	0.12760	T	10	0.022248536	0.00551	T	0.003041	0.06547	T	.	.	.	.	0.259272394797	0.25527	0.12811979687283492	0.12736	.	.	0.318226397038	0.13152	T	0.037572	0.24522	T	-0.481061	0.00729	T	-0.477018	0.24764	T	0.0777041379065931	0.09690	T	0.70083	0.31049	T	0.02767465	0.01993	0.07143691	0.15297	0.02767465	0.01993	0.07143691	0.15297	-2.67	0.07054	T	0.6145233880964431	0.68237	0.104	0.18950	B	.;.;.	.;.;.	2.267205	0.28977	17.97	0.99719098037052845	0.81914	0.76704	0.37640	D	AEFBI	0.107581	0.21430	N	-0.0892692972756828	0.37862	2.208991	-0.0629884261258948	0.36934	2.155838	0.00156036352657918	0.08639	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.62	4.75	0.59954	1.494000	0.35225	3.231000	0.36908	-0.113000	0.14837	0.950000	0.33075	0.999000	0.35428	0.012000	0.09680	0.0869:0.0:0.9131:0.0	10.851	0.45979	586	0.69252	.;.;.	.	.	.	.	.	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	1686.98	35	chr2	73519968	.	G	A	1686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.740e-01;DP=861;ExcessHet=0.0000;FS=9.402;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=-6.320e-01;SOR=1.298	GT:AD:DP:GQ:PL	0/1:62,70:132:99:1701,0,1461	20	0	1	0
chr2	73946899	73946899	A	G	exonic	DGUOK	.	nonsynonymous SNV	DGUOK:NM_001318860:exon2:c.A145G:p.S49G	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Autosomal recessive;Portal hypertension, noncirrhotic, Autosomal recessive;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1990111	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	N	1.000	D	3.325	M	-4.07	D	1.099	D	0.950	D	0.944	4.977	29.1	5.68	2.175	8.848	14.921	0.971	0.301359465817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.427e-06	3.42e-06	1.364e-06	5.512e-06	4.5e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.5e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	N	0.041114	1	0.81001	D	3.135	0.88152	M	-4.07	0.96562	D	-3.8	0.71762	D	0.933	0.96187	1.099	0.99628	D	0.950	0.98368	D	10	0.96218485	0.95642	D	0.301359	0.90893	D	0.971	0.99671	0.841	0.94663	0.999001975636	0.99898	0.7790852717051264	0.77859	0.517873433737	0.49650	0.610723853111	0.54418	T	0.949301	0.99258	D	0.562713	0.96292	D	0.570522	0.96232	D	0.992160379886627	0.82579	D	0.953205	0.83632	D	0.93005645	0.94242	0.88210946	0.93709	0.93005645	0.94243	0.88210946	0.93710	-11.904	0.84379	D	0.6148052833655315	0.68268	0.386	0.58756	A	.;.	.;.	4.904832	0.80643	27.4	0.99835513010145227	0.91628	0.99340	0.94730	D	AEFDBI	0.928027	0.91160	D	0.946696323844407	0.93851	12.32282	0.893025752504749	0.95263	13.45755	0.999999999972529	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	9.216000	0.94289	11.151000	0.87351	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.921	0.70484	549	0.72275	Deoxynucleoside kinase 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	1714.98	41	chr2	73946899	.	A	G	1714.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.600e-02;DP=822;ExcessHet=0.0000;FS=0.734;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.18;ReadPosRankSum=-1.418e+00;SOR=0.580	GT:AD:DP:GQ:PL	0/1:48,65:113:99:1729,0,1173	20	0	1	0
chr2	74481463	74481463	C	T	exonic	CCDC142	.	nonsynonymous SNV	CCDC142:NM_001365575:exon2:c.G1097A:p.S366N	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.004	B	0.004	B	0.139	N	1.000	N	2.08	M	0.89	T	-1.022	T	0.080	T	0.141	1.268	10.14	-1.71	-0.229	-0.274	1.979	0.049	.	.	0.00219649	0.0008	0	0.0002	0	0	2.999e-05	0	0.0059	0.0007374	114	154602	rs374490576	0.0004	0.0004	0.0002	0.0006	0.0062	0.0004	0.0004	0.0058	0.0056	0	4.472e-05	0	0	0	0.0005	5.396e-06	0.0005	0.0062	0.0002	0.0002	8.997e-05	0.0004	0.0068	0.0002	0.0001	0.0050	0.0044	0	0	0	0	0	0	0	1.47e-05	0	0.0068	0.159	0.23813	T	0.016	0.60972	D	0.0	0.12183	B	0.001	0.10090	B	0.138618	0.18372	N	0.508000	0.999904	0.19694	N	1.825	0.47900	L	0.89	0.45636	T	-0.9	0.25332	N	0.233	0.26475	-1.0217	0.23162	T	0.080	0.31615	T	10	0.008601874	0.00195	T	.	.	.	0.049	0.13647	0.247	0.18293	0.235664433957	0.23186	0.21802444981067995	0.21718	0.200694031124	0.22468	0.31821590662	0.13151	T	0.004632	0.04039	T	-0.591329	0.00165	T	-0.619984	0.11187	T	0.0188910916492331	0.00599	T	0.427357	0.11519	T	0.07528787	0.16953	0.06323823	0.12496	0.07528787	0.16953	0.06323823	0.12496	-6.087	0.47002	T	.	.	0.087	0.11317	B	.;.	.;.	1.474217	0.18984	14.03	0.76304580643698683	0.11414	0.10423	0.15934	N	AEFB	0.070506	0.13998	N	-0.870574543997229	0.11547	0.5578303	-0.835112215867669	0.13645	0.7090073	0.99978323730388	0.43007	0.489673	0.17934	0	0.516746	0.08562	0	0.759307	0.98198	0	0.665054	0.64577	0	.	.	4.79	-1.71	0.07696	-0.186000	0.09666	-0.222000	0.10754	-0.190000	0.09434	0.441000	0.26495	0.256000	0.23951	0.991000	0.66497	0.1206:0.3984:0.2363:0.2446	1.979	0.03214	524	0.74079	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1829.98	37	chr2	74481463	.	C	T	1829.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.619;DP=823;ExcessHet=0.0000;FS=0.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.30;ReadPosRankSum=-1.173e+00;SOR=0.613	GT:AD:DP:GQ:PL	0/1:62,66:128:99:1844,0,1631	20	0	1	0
chr2	74498258	74498258	C	T	exonic	LBX2	.	nonsynonymous SNV	LBX2:NM_001009812:exon2:c.G254A:p.R85H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.375	H	-5.51	D	1.022	D	0.986	D	0.947	5.446	35	4.61	2.390	7.434	14.987	0.479	0.374264008227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.385e-06	2.736e-06	2.754e-06	0	5.995e-05	2.3e-07	9e-08	9.93e-06	3.71e-06	5.995e-05	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	0.000215	0.47681	D	0.000000	1	0.81001	D	3.925	0.96283	H	-5.51	0.99156	D	-4.92	0.81675	D	0.945	0.96302	1.022	0.97563	D	0.986	0.99568	D	10	0.9823085	0.98303	D	0.374264	0.92820	D	0.985	0.99931	0.915	0.98384	0.952298333566	0.95179	0.8193136582524453	0.81888	1.55511015912	0.87952	0.925487101078	0.98712	D	0.801247	0.94935	D	0.55994	0.96164	D	0.566539	0.96104	D	0.999938249588013	0.99782	D	0.994026	0.98060	D	0.7677293	0.81911	0.7446124	0.84904	0.7677293	0.81913	0.7446124	0.84905	-12.39	0.86699	D	.	.	0.783	0.83259	P	.;.	.;.	6.126665	0.94621	34	0.99947249873804922	0.99913	0.98445	0.82852	D	AEFDGBHCI	0.931430	0.92023	D	0.994375674291099	0.95569	13.74652	0.859505691599078	0.93561	12.12358	1.0	0.98316	0.443343	0.08805	1	0.606814	0.50340	0	0.666236	0.60216	0	0.56751	0.32155	0	.	.	4.61	4.61	0.56724	7.801000	0.84525	7.528000	0.59870	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.862000	0.40904	0.0:1.0:0.0:0.0	14.987	0.71008	364	0.84707	Homeobox domain|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	1548.98	39	chr2	74498258	.	C	T	1548.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=902;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.04;ReadPosRankSum=0.080;SOR=0.732	GT:AD:DP:GQ:PL	0/1:44,59:103:99:1563,0,1007	20	0	1	0
chr2	75493264	75493264	C	A	exonic	EVA1A	.	nonsynonymous SNV	EVA1A:NM_001135032:exon4:c.G431T:p.G144V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.997	D	0.844	P	0.000	D	1.000	D	2.62	M	0.71	T	-0.535	T	0.264	T	0.853	2.891	15.63	3.9	1.284	2.488	13.401	0.276	0.0399738523352	.	.	2.578e-05	0	0	0.0002	0	1.561e-05	0	0	1.94e-05	3	154602	rs767429995	1.848e-05	1.847e-05	1.77e-05	1.926e-05	0.0004	1.265e-05	1.085e-05	0.0002	0.0002	0	0	0	0.0004	0	0	8.995e-06	3.314e-05	1.16e-05	1.969e-05	1.968e-05	3.853e-05	0	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.157	0.23997	T	0.05	0.48080	T	0.997	0.70673	D	0.844	0.60373	P	0.000000	0.84330	D	0.045344	1	0.81001	D	2.435	0.70606	M	0.71	0.51228	T	-4.68	0.79659	D	0.341	0.44474	-0.5349	0.67356	T	0.264	0.63523	T	10	0.286853	0.46268	T	0.039974	0.59116	D	0.276	0.59253	0.243	0.17677	0.661350065395	0.65851	0.562155811928762	0.56142	1.26157063712	0.82044	0.650109052658	0.60002	T	0.083065	0.36970	T	0.011842	0.53277	T	0.0049355	0.70656	D	0.960152089595795	0.65727	D	0.943706	0.78720	D	0.41715324	0.61902	0.28644097	0.54652	0.41715324	0.61903	0.28644097	0.54651	-10.648	0.77693	D	.	.	0.210	0.48561	B	.;.;.;.;.	.;.;.;.;.	3.231974	0.44079	21.9	0.99394340317797092	0.62474	0.87347	0.46858	D	AEFDBHCI	0.782436	0.71372	D	0.33199846681504	0.57798	3.948623	0.203845856830313	0.50061	3.202111	0.99999606827005	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	4.79	3.9	0.44240	2.616000	0.46041	1.311000	0.25538	0.599000	0.40250	0.996000	0.39380	0.063000	0.22074	0.165000	0.20815	0.0:0.8399:0.16:0.0	13.401	0.60327	952	0.10565	EVA1 domain;EVA1 domain;EVA1 domain;EVA1 domain;EVA1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	893.98	37	chr2	75493264	.	C	A	893.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.928e+00;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=1.48;SOR=0.731	GT:AD:DP:GQ:PL	0/1:29,35:64:99:908,0,778	20	0	1	0
chr2	87783062	87783064	TCT	-	exonic	RGPD1;RGPD2	.	nonframeshift deletion	RGPD1:NM_001024457:exon20:c.3936_3938del:p.E1313del	.	.	145	1369	7	1	0	9	0.0032763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00299521	0.0029	0	0	0	0	0.0007	0	0.0471	0.00152	235	154602	rs547445906	0.0011	0.0011	0.0007	0.0016	0.0151	0.0011	0.0011	0.0144	0.0141	6.004e-05	0	0.0002	0	0	0.0032	0.0002	0.0009	0.0151	0.0004	0.0005	0.0005	0.0003	0.0081	0.0003	0.0003	0.0058	0.0050	0	0	0.0002	0.0003	0	0	0	0.0003	0.0006	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	9320.05	40	chr2	87783061	.	CTCT	C	9320.05	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.481e+00;DP=943;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=34.51;MQRankSum=1.63;QD=35.55;ReadPosRankSum=-1.519e+00;SOR=0.752	GT:AD:DP:GQ:PL	1/1:1,210:211:99:9348,591,0	20	1	0	0
chr2	94874110	94874110	T	G	splicing	TEKT4	NM_001286559:exon3:c.167+2T>G;NM_144705:exon3:c.713+2T>G	.	.	.	.	406	1070	44	2	0	48	0.0219378	1.0000	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.317	13.70	2.24	0.779	4.740	8.014	.	.	.	.	0.0040	0.0040	0.0018	0.0039	0.0052	0.0040	0.0082	0.0048	0.0004995	13	26028	rs201662522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0210978	0.54528	T	-0.207471	0.53936	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.728960	0.53327	23.3	0.92961029893543212	0.22537	0.79885	0.39676	D	AEFDGBCI	.	.	.	0.522301970175972	0.68412	5.213453	0.198859362804565	0.49784	3.177611	0.997889277469928	0.36150	0.055872	0.00684	0	0.068659	0.01829	0	0.067067	0.01885	0	0.078985	0.02075	0	0.724399	0.43579	2.24	2.24	0.27264	2.478000	0.44848	6.975000	0.57104	0.334000	0.19664	1.000000	0.71638	1.000000	0.68203	0.087000	0.17632	0.0:0.0:0.0:1.0	8.014	0.29532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	415.2	33	chr2	94874110	.	T	G	415.2	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.707e+00;DP=893;ExcessHet=1.7912;FS=3.157;InbreedingCoeff=-0.1724;MLEAC=6;MLEAF=0.143;MQ=58.57;MQRankSum=-7.504e+00;QD=1.07;ReadPosRankSum=2.48;SOR=0.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,7:78:80:0|1:94874086_T_C:80,0,2960:94874086	15	0	6	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|1:263,21:284:90:0|1:94876587_C_A:90,0,10878:94876587	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|1:317,65:382:99:0|1:94876587_C_A:1775,0,13114:94876587	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|1:333,78:411:99:0|1:94876587_C_A:2266,0,13679:94876587	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|1:375,93:468:99:0|1:94876671_A_G:2776,0,15269:94876671	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|1:376,93:469:99:0|1:94876671_A_G:2773,0,15304:94876671	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	0/1:384,76:460:99:.:.:641,0,10027	4	0	17	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S,	.	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	.	.	.	.	.	.	1.000	N	1.32	L	2.56	T	-0.945	T	0.020	T	0.057	1.140	9.645	-5.28	-1.321	0.150	0.771	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.5	31056.74	205	chr2	95855390	.	T	C	31056.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.80;DP=5080;ExcessHet=54.0936;FS=20.631;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.44;MQRankSum=-1.119e+01;QD=6.32;ReadPosRankSum=-6.536e+00;SOR=2.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:192,67:259:99:.:.:1437,0,5365	0	0	21	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H,	.	.	432	686	404	0	0	404	0.227477	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	.	.	.	.	.	.	1.000	N	0.235	N	2.59	T	-0.942	T	0.018	T	0.062	0.675	7.614	-0.833	0.028	1.770	6.110	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7228.38	236	chr2	95855406	.	C	G	7228.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=1.43;DP=5612;ExcessHet=17.4423;FS=6.424;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=53.45;MQRankSum=-6.363e+00;QD=1.79;ReadPosRankSum=-3.638e+00;SOR=1.400	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:252,33:285:99:.:.:298,0,7566	6	0	15	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S,	.	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	.	.	.	.	.	.	1.000	N	-0.55	N	2.62	T	-0.930	T	0.011	T	0.014	-2.217	0.005	-0.838	-0.224	0.602	6.069	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.5	75221.74	386	chr2	95855549	.	T	C	75221.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.304e+00;DP=7464;ExcessHet=54.0936;FS=12.010;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=44.23;MQRankSum=-1.248e+01;QD=10.32;ReadPosRankSum=0.574;SOR=1.209	GT:AD:DP:GQ:PL	0/1:177,187:364:99:4289,0,4730	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	0/1:190,119:309:99:.:.:3151,0,5323	0	0	21	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R,	.	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	.	.	.	.	.	.	1.000	N	0.67	N	2.4	T	-0.978	T	0.023	T	0.059	-0.264	2.731	0.82	0.218	1.729	2.541	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.5	49926.74	306	chr2	95855588	.	T	C	49926.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.094e+00;DP=5999;ExcessHet=54.0936;FS=32.611;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=47.18;MQRankSum=-1.171e+01;QD=8.52;ReadPosRankSum=-4.041e+00;SOR=2.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:200,94:294:99:.:.:2296,0,5486	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|1:98,34:132:99:0|1:95859895_T_C:603,0,3945:95859895	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|1:135,48:183:99:0|1:95859969_A_AT:1602,0,5449:95859969	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|1:135,48:183:99:0|1:95859969_A_AT:1602,0,5449:95859969	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|1:133,48:181:99:0|1:95859969_A_AT:1616,0,5375:95859969	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	0/1:129,43:172:99:1195,0,3387	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	0/1:132,31:163:99:.:.:418,0,5233	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	0/1:119,35:154:99:.:.:1052,0,3266	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|1:110,28:138:99:0|1:95860020_G_A:824,0,4472:95860020	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|1:108,27:135:99:0|1:95860020_G_A:809,0,4409:95860020	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	0/1:80,18:98:99:516,0,2400	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|1:141,36:177:99:0|1:95927222_G_GAT:1087,0,5799:95927222	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|1:149,49:198:99:0|1:95927222_G_GAT:1609,0,6096:95927222	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|1:155,67:222:99:0|1:95927222_G_GAT:2347,0,6307:95927222	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|1:189,120:309:99:0|1:95927222_G_GAT:4470,0,7575:95927222	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|1:205,162:367:99:0|1:95927222_G_GAT:6134,0,8033:95927222	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|1:218,166:384:99:0|1:95927222_G_GAT:6202,0,8293:95927222	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|1:120,77:197:99:0|1:95929092_T_C:2816,0,4744:95929092	1	0	20	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T,	.	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	.	.	1.000	N	.	.	-1.17	T	-0.746	T	0.297	T	0.219	0.645	7.463	-0.637	-0.224	0.734	2.815	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	51819.43	236	chr2	95929110	.	A	G	51819.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=9.99;DP=4508;ExcessHet=43.6797;FS=8.254;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=45.41;MQRankSum=-9.797e+00;QD=11.60;ReadPosRankSum=-2.111e+00;SOR=1.293	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,90:228:99:0|1:95929092_T_C:3364,0,5522:95929092	1	0	20	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y,	.	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	1.000	N	.	.	-0.96	T	-0.705	T	0.302	T	0.375	1.013	9.136	0.871	0.742	0.666	5.051	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	67411.43	272	chr2	95929126	.	C	A	67411.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=3.03;DP=5235;ExcessHet=43.6797;FS=15.425;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=44.20;MQRankSum=-1.062e+01;QD=12.98;ReadPosRankSum=-1.058e+00;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,123:281:99:0|1:95929092_T_C:4689,0,6264:95929092	1	0	20	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E,	.	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	-0.99	T	-0.983	T	0.120	T	0.057	0.583	7.149	-0.054	-0.059	0.169	4.774	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	71752.43	282	chr2	95929130	.	G	C	71752.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=5.49;DP=5406;ExcessHet=43.6797;FS=17.088;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=43.89;MQRankSum=-1.053e+01;QD=13.38;ReadPosRankSum=-8.420e-01;SOR=1.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,127:289:99:0|1:95929092_T_C:4845,0,6420:95929092	1	0	20	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N,	.	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	.	.	.	.	.	.	1.000	N	.	.	-1.0	T	-0.975	T	0.178	T	0.032	1.786	11.93	-0.087	-0.070	0.689	3.151	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	75077.43	291	chr2	95929135	.	C	T	75077.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=6.83;DP=5658;ExcessHet=43.6797;FS=16.868;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=43.43;MQRankSum=-1.046e+01;QD=13.67;ReadPosRankSum=-5.410e-01;SOR=1.771	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,132:299:99:0|1:95929092_T_C:4998,0,6567:95929092	1	0	20	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|1:120,20:140:99:0|1:97185336_GC_G:479,0,4979:97185336	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|1:122,20:142:99:0|1:97185336_GC_G:473,0,5063:97185336	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|1:122,20:142:99:0|1:97185336_GC_G:473,0,5063:97185336	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|1:128,20:148:99:0|1:97185336_GC_G:455,0,5287:97185336	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|1:148,13:161:99:0|1:97243981_C_T:100,0,6125:97243981	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|1:139,15:154:99:0|1:97243981_C_T:171,0,5791:97243981	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|1:128,113:241:99:0|1:97513219_T_C:4360,0,5035:97513219	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|1:134,118:252:99:0|1:97513219_T_C:4551,0,5271:97513219	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|1:146,154:300:99:0|1:97513244_G_T:6027,0,5620:97513244	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|1:153,159:312:99:0|1:97513244_G_T:6216,0,5899:97513244	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|1:153,159:312:99:0|1:97513244_G_T:6216,0,5899:97513244	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|1:154,171:325:99:0|1:97513268_C_T:6676,0,5931:97513268	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	0/1:172,154:326:99:.:.:3140,0,6427	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|1:154,170:324:99:0|1:97513268_C_T:6670,0,5955:97513268	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|1:162,174:336:99:0|1:97513268_C_T:6749,0,6117:97513268	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	0/1:128,90:218:99:1871,0,2876	0	0	20	1
chr2	98396476	98396476	C	T	exonic	CNGA3	.	nonsynonymous SNV	CNGA3:NM_001079878:exon7:c.C1252T:p.R418W	Achromatopsia 2, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	24521	not_provided|Retinal_dystrophy|Achromatopsia|Achromatopsia_2	MedGen:C3661900|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|Human_Phenotype_Ontology:HP:0011516,MONDO:MONDO:0018852,MedGen:C0152200,Orphanet:49382|MONDO:MONDO:0009003,MedGen:C1857618,OMIM:216900,Orphanet:49382	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	A	3.71	H	-4.4	D	1.137	D	0.958	D	0.977	2.389	13.95	3.96	1.243	1.463	11.444	0.858	0.442367690163	0.0002	0.000199681	9.122e-05	9.787e-05	0	0.0001	0	4.527e-05	0	0.0004	7.76e-05	12	154602	rs104893621	6.978e-05	7.046e-05	6.398e-05	7.564e-05	0.0003	5.847e-05	5.457e-05	0.0002	0.0002	8.961e-05	0	0.0003	0.0001	0	0	5.126e-05	3.312e-05	0.0003	6.573e-05	6.562e-05	2.572e-05	0.0001	0.0012	3.518e-05	2.617e-05	0.0005	0.0004	0	0	0	0.0006	0	0	0	2.941e-05	0	0.0012	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	A	3.825	0.95591	H	-4.4	0.97419	D	-7.49	0.95015	D	0.864	0.91505	1.137	0.99934	D	0.958	0.98639	D	9	0.9475945	0.94088	D	0.442368	0.94189	D	0.858	0.95655	.	.	0.999780721258	0.99977	0.8708964004251063	0.87055	0.520053127806	0.49812	0.684177279472	0.64869	T	0.852278	0.96649	D	0.289016	0.82075	D	0.487894	0.94369	D	0.989059329032898	0.79317	D	0.989851	0.96764	D	0.7516196	0.80962	0.5351026	0.73135	0.7428448	0.80456	0.48338583	0.70091	-14.13	0.93552	D	0.9858449454989004	0.99628	0.564	0.67382	P	.;.;.;.	.;.;.;.	5.299400	0.88975	29.8	0.99850493336936375	0.93013	0.58719	0.30718	D	AEFBI	0.559103	0.56805	D	0.316641426234155	0.57001	3.866101	0.144705948789566	0.46863	2.925359	0.0536682594544488	0.14946	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.85	3.96	0.45097	1.569000	0.36037	1.779000	0.28700	-0.224000	0.07868	0.799000	0.29708	0.927000	0.28453	0.706000	0.34326	0.3274:0.6726:0.0:0.0	11.444	0.49357	279	0.89001	.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2765.08	35	chr2	98396476	.	C	T	2765.08	.	AC=2;AF=0.048;AN=42;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.92;SOR=0.954	GT:AD:DP:GQ:PL	1/1:0,84:84:99:2793,252,0	20	1	0	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	1/1:0,22,0:22:66:641,66,0,641,66,641	3	9	6	2
chr2	107854628	107854628	C	T	exonic	RGPD4	.	stopgain	RGPD4:NM_182588:exon8:c.C1051T:p.R351X,	.	.	232	1278	12	0	0	12	0.0046729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	4.531	24.4	2.86	1.439	2.949	10.52	.	.	.	0.00199681	0.0025	0.0019	0	0	0.0010	0.0026	0	0.0096	0.000608	94	154602	rs199689821	0.0016	0.0016	0.0014	0.0017	0.0057	0.0015	0.0015	0.0052	0.0050	0.0005	0.0003	0.0010	5.617e-05	0.0020	0.0042	0.0014	0.0015	0.0057	0.0012	0.0012	0.0012	0.0012	0.0060	0.0010	0.0010	0.0042	0.0037	0.0005	0	0.0007	0.0015	0	0.0004	0.0103	0.0015	0.0034	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.423	0.46274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201619	0.74043	D	0.520981	0.95039	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.743214	0.97962	38	0.99722535285569436	0.82125	0.79524	0.39423	D	AEFI	0.092975	0.18816	N	0.482794992078414	0.66085	4.904803	0.254461367745698	0.52903	3.462162	9.66782446024917E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	2.86	2.86	0.32427	3.103000	0.49990	7.704000	0.66446	0.271000	0.18527	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:1.0:0.0:0.0	10.52	0.44101	964	0.07719	.	.	.	.	.	.	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	277.09	33	chr2	107854628	.	C	T	277.09	.	AC=2;AF=0.048;AN=42;DP=518;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9982;MLEAC=2;MLEAF=0.048;MQ=32.69;QD=27.71;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,10:10:30:305,30,0	20	1	0	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	1/1:0,240,0:240:99:.:.:7620,720,0,7620,720,7620	3	5	3	0
chr2	111862567	111862567	A	C	exonic	ANAPC1	.	nonsynonymous SNV	ANAPC1:NM_022662:exon10:c.T1084G:p.S362A,	.	.	551	954	17	0	0	17	0.00883117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.841	P	0.746	P	0.080	U	0.999	D	1.87	L	.	.	-0.719	T	0.275	T	0.559	2.720	15.05	5.64	2.137	7.769	14.415	0.151	.	.	.	0.0047	0.0180	0.0025	0.0059	0.0003	0.0014	0.0013	0.0139	3.84e-05	1	26028	rs753622705	0.0004	0.0044	0.0003	0.0005	0.0047	0.0004	0.0004	0.0041	0.0038	0.0047	0.0015	0.0003	0.0010	9.409e-05	0.0012	0.0001	0.0004	0.0027	6.61e-05	0.0004	3.878e-05	9.47e-05	0.0002	3.536e-05	2.631e-05	9.701e-05	7.061e-05	0.0002	0	0	0	0	0	0	1.472e-05	0	0.0002	0.17	0.22833	T	0.404	0.14818	T	0.841	0.46518	P	0.746	0.55899	P	0.079948	0.20953	U	0.221037	0.999023	0.45899	D	2.215	0.62545	M	.	.	.	-0.97	0.25770	N	0.542	0.56919	-0.7187	0.59527	T	0.275	0.64681	T	9	0.009175271	0.00207	T	.	.	.	0.151	0.39764	.	.	0.300784259202	0.29686	0.5780039866043089	0.57729	.	.	0.76539003849	0.76733	T	0.006937	0.06364	T	0.0593238	0.59528	T	-0.152562	0.59015	T	0.0335864095914406	0.02568	T	0.675932	0.28448	T	0.07947044	0.18158	0.08809113	0.20519	0.07947044	0.18158	0.08809113	0.20518	-5.076	0.37653	T	.	.	0.082	0.08560	B	.	.	3.524964	0.49431	22.8	0.99124367532288282	0.53089	0.97830	0.77447	D	AEFBI	0.838031	0.75559	D	0.557662716379584	0.70549	5.517996	0.601730172591018	0.75064	6.245122	0.972534829490776	0.29379	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	7.397000	0.79162	11.183000	0.88385	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.415	0.66717	779	0.47767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	239.11	34	chr2	111862567	.	A	C	239.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.262;DP=857;ExcessHet=0.1072;FS=9.457;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=50.32;MQRankSum=-4.423e+00;QD=1.29;ReadPosRankSum=-1.646e+00;SOR=1.516	GT:AD:DP:GQ:PL	0/1:79,17:96:99:151,0,2197	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	1/1:1,264,0:265:99:.:.:7879,784,0,7882,791,7889	4	10	6	0
chr2	130509085	130509085	C	T	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon1:c.G151A:p.D51N	.	.	445	1009	24	3	41	71	0.0146484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	1.04	L	-1.53	D	-0.645	T	0.345	T	0.083	1.625	11.39	0.109	0.181	-0.628	.	0.290	.	.	0.0103834	0.0117	0.0010	0.0038	0	0.0174	0.0127	0.0105	0.0223	0.0091461	1414	154602	rs199728291	0.0094	0.0095	0.0088	0.0100	0.0213	0.0093	0.0092	0.0205	0.0201	0.0015	0.0052	0.0092	2.58e-05	0.0186	0.0130	0.0088	0.0087	0.0213	0.0063	0.0074	0.0064	0.0062	0.0168	0.0059	0.0057	0.0124	0.0109	0.0011	0.0085	0.0030	0.0079	0	0.0101	0	0.0089	0.0068	0.0168	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.59	0.40313	L	-1.53	0.81559	D	-0.6	0.17834	N	0.079	0.05670	-0.6452	0.62922	T	0.345	0.71020	T	6	0.0054852962	0.00121	T	.	.	.	0.290	0.60924	.	.	.	.	0.015385206267924894	0.01494	.	.	0.529596567154	0.42977	T	0.017224	0.14089	T	-0.474484	0.00797	T	-0.453799	0.27277	T	0.0189065854438277	0.00600	T	0.633137	0.30512	T	0.09588268	0.22573	0.10490704	0.25207	0.09588268	0.22573	0.10490704	0.25207	-7.463	0.57350	T	.	.	0.146	0.32226	B	.;.;.	.;.;.	2.090964	0.26601	17.17	0.99476310930527512	0.66633	0.00157	0.00941	N	AEFI	0.023533	0.01325	N	-0.809320772658497	0.13072	0.6414241	-1.04269100009514	0.08860	0.4377232	1.11275397622661E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	-0.044000	0.11977	.	.	-1.058000	0.01623	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	.	.	.	976	0.04745	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2929.98	39	chr2	130509085	.	C	T	2929.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.220e-01;DP=1484;ExcessHet=0.0000;FS=6.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.41;MQRankSum=-1.348e+00;QD=12.85;ReadPosRankSum=0.289;SOR=0.397	GT:AD:DP:GQ:PL	0/1:103,125:228:99:2944,0,2375	20	0	1	0
chr2	131146691	131146693	ACA	-	exonic	PLEKHB2	.	nonframeshift deletion	PLEKHB2:NM_001267067:exon6:c.457_459del:p.T155del	.	.	433	1088	0	1	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.592e-05	0	0	0	0	1.499e-05	0	0.0004	5.17e-05	8	154602	rs774578796	3.147e-05	3.147e-05	1.906e-05	4.401e-05	0.0004	2.412e-05	2.158e-05	0.0003	0.0003	0	2.236e-05	0	0	0	0	7.195e-06	1.656e-05	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3008.94	34	chr2	131146690	.	GACA	G	3008.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.261e+00;DP=839;ExcessHet=0.0000;FS=3.438;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=24.87;ReadPosRankSum=1.35;SOR=0.631	GT:AD:DP:GQ:PL	0/1:45,76:121:99:3023,0,1656	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	1/1:0,26,2,0:28:31:698,83,0,635,31,633,694,82,637,692	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	1/1:0,26,2,0:28:31:698,83,0,635,31,633,694,82,637,692	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	0/1:158,46:209:8:8,0,3370	3	0	15	3
chr2	162319189	162319189	T	C	exonic	GCA	.	nonsynonymous SNV	GCA:NM_001330268:exon1:c.T55C:p.F19L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	-2.61	D	-0.360	T	0.520	D	0.188	1.686	11.60	-4.33	-0.699	-0.014	2.257	0.120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402007510	2.626e-05	1.272e-05	1.524e-05	3.459e-05	6.695e-05	1.228e-05	9.15e-06	2.262e-05	1.352e-05	0	0	0	0	0	0	2.516e-05	0	6.695e-05	1.315e-05	1.313e-05	2.57e-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	0.0	0.91255	D	0.203	0.27325	T	.	.	.	.	.	.	.	.	.	.	0.999924	0.19486	N	.	.	.	-2.61	0.89953	D	-0.28	0.11547	N	.	.	-0.3605	0.73248	T	0.520	0.82072	D	6	0.13077337	0.24888	T	.	.	.	0.120	0.33359	0.268	0.21576	0.811780400679	0.81001	.	.	.	.	.	.	.	0.008036	0.07400	T	-0.0654107	0.42057	T	-0.134763	0.60568	T	0.0601408467016755	0.07192	T	0.20398	0.02363	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.598	0.68780	P	.	.	0.864336	0.12371	8.906	0.72130109512809149	0.09867	0.12595	0.17364	N	ALL	0.075179	0.15090	N	-0.709793859312907	0.15746	0.7962391	-0.92395249510533	0.11529	0.5879207	0.999999999069946	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.171818	0.04044	3	0.56214	0.19341	0	.	.	4.79	-4.33	0.03423	-0.020000	0.12466	-0.405000	0.09385	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.1284:0.1644:0.4175:0.2897	2.257	0.03809	548	0.72362	.	.	.	.	.	.	Uncertain significance	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	592.98	33	chr2	162319189	.	T	C	592.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=8.000e-03;DP=763;ExcessHet=0.0000;FS=1.132;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.40;ReadPosRankSum=-3.640e-01;SOR=0.452	GT:AD:DP:GQ:PL	0/1:33,24:57:99:607,0,981	20	0	1	0
chr2	172427937	172427937	T	C	exonic	ITGA6	.	nonsynonymous SNV	ITGA6:NM_000210:exon1:c.T149C:p.M50T	Epidermolysis bullosa, junctional, with pyloric stenosis, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	2362573	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.995	D	0.928	D	0.000	D	1.000	D	0.715	N	-1.9	D	0.203	D	0.566	D	0.674	3.869	19.66	4.15	1.516	6.091	11.985	0.755	0.948821575032	.	0.000199681	8.497e-05	0	0	0	0	3.112e-05	0	0.0005	7.12e-05	11	154602	rs544002743	7.769e-05	7.867e-05	4.925e-05	0.0001	0.0010	6.566e-05	6.167e-05	0.0008	0.0008	0	0	0.0005	0	1.895e-05	0.0003	9.919e-06	4.99e-05	0.0010	4.603e-05	4.595e-05	2.573e-05	6.725e-05	0.0004	2.111e-05	1.528e-05	7.307e-05	3.035e-05	0	0	0	0.0012	0	0	0	1.472e-05	0	0.0004	0.002	0.72154	D	0.001	0.83351	D	0.995	0.67487	D	0.928	0.66279	D	0.000000	0.84330	D	0.041965	0.999987	0.81001	D	1.65	0.42232	L	-1.9	0.84628	D	-3.4	0.67014	D	0.638	0.70351	0.203	0.85964	D	0.566	0.84249	D	10	0.64472383	0.69259	D	0.948822	0.99647	D	0.755	0.91626	0.642	0.77903	0.907072218134	0.90614	0.8816775091988445	0.88135	1.27320162411	0.82335	0.907932519913	0.97270	D	0.53051	0.83745	D	-0.0464189	0.44989	T	0.0619884	0.74377	D	0.310756552404318	0.25445	T	0.835616	0.55187	T	0.7203372	0.79180	0.6961669	0.82110	0.7203372	0.79181	0.6961669	0.82111	-9.243	0.69248	D	.	.	0.646	0.77325	P	.;.;.;.	.;.;.;.	4.525158	0.70989	25.6	0.98921506343319743	0.48565	0.72845	0.35642	D	AEFDBCIJ	0.671159	0.63800	D	0.417211791354328	0.62369	4.451619	0.412482192057495	0.62342	4.447988	0.999999999981779	0.74766	0.733237	0.96898	0	0.491552	0.07993	0	0.504199	0.09095	0	0.621717	0.48901	0	.	.	4.15	4.15	0.47978	6.018000	0.70464	5.746000	0.49600	0.657000	0.54293	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	11.985	0.52432	732	0.54084	.;.;.;.	.	.	.	.	.	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	0.02381	1102.98	33	chr2	172427937	.	T	C	1102.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.013e+00;DP=827;ExcessHet=0.0000;FS=3.438;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.27;ReadPosRankSum=0.091;SOR=1.030	GT:AD:DP:GQ:PL	0/1:68,51:119:99:1117,0,1656	20	0	1	0
chr2	176093094	176093094	-	GCGGCA	exonic	HOXD13	.	nonframeshift insertion	HOXD13:NM_000523:exon1:c.204_205insGCGGCA:p.A71_S72insAA,	Brachydactyly, type D, Autosomal dominant;Brachydactyly, type E, Autosomal dominant;Syndactyly, type V, Autosomal dominant;Synpolydactyly 1, Autosomal dominant	.	8	704	635	169	6	979	0.408652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0.0008	0	0	0	0.0013	0.0001035	16	154602	rs775525473	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0009	0.0008	0.0002	7.082e-05	0	0.0001	0	0.0016	7.043e-05	0.0003	0.0011	6.616e-05	6.568e-05	5.173e-05	8.128e-05	0.0006	3.539e-05	2.633e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	8.907e-05	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	14698.8	35	chr2	176093094	.	G	A,GGCGGCA	14698.8	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.290;DP=1345;ExcessHet=1.3217;FS=0.527;InbreedingCoeff=-0.0027;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=15.77;ReadPosRankSum=0.902;SOR=0.632	GT:AD:DP:GQ:PL	0/1:60,30,0:90:99:667,0,1410,847,1500,2347	10	2	8	0
chr2	176100106	176100106	C	A	exonic	HOXD12	.	nonsynonymous SNV	HOXD12:NM_021193:exon1:c.C305A:p.A102E,	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.6	P	0.145	B	0.391	N	1.000	N	0.755	N	1.35	T	-1.080	T	0.045	T	0.16	0.798	8.202	4.32	2.445	1.234	14.614	0.037	0.0295741275173	0.0004	0.00119808	0.0007	0	0.0002	0	0.0003	0.0012	0.0019	0.0002	0.0005563	86	154602	rs139519037	0.0007	0.0007	0.0007	0.0007	0.0016	0.0007	0.0007	0.0008	0.0008	0.0001	0.0011	0.0002	0	8.003e-05	0.0016	0.0009	0.0007	0.0001	0.0007	0.0007	0.0007	0.0008	0.0037	0.0006	0.0006	0.0029	0.0026	0.0001	0	0.0037	0	0	9.414e-05	0	0.0007	0.0019	0	0.286	0.15201	T	0.342	0.20811	T	0.165	0.39325	B	0.112	0.33871	B	0.390922	0.13256	N	0.742186	1	0.08975	N	0.755	0.19153	N	1.35	0.34648	T	-0.47	0.15986	N	0.252	0.28498	-1.0797	0.07407	T	0.045	0.19275	T	10	0.0060472786	0.00136	T	0.029574	0.52060	D	0.037	0.09474	.	.	0.425028116352	0.42120	0.36426639096688446	0.36340	0.172866943843	0.19464	0.473130345345	0.35111	T	0.091621	0.38833	T	-0.489415	0.00655	T	-0.545947	0.17716	T	0.0130447424049978	0.00227	T	0.671933	0.28057	T	0.1740911	0.38194	0.2868034	0.54689	0.1740911	0.38194	0.2868034	0.54688	-5.281	0.39754	T	.	.	0.166	0.43975	B	.;.	.;.	1.664887	0.21229	15.11	0.95862643420528737	0.28025	0.37983	0.25885	N	AEFDBCI	0.113130	0.22334	N	-0.424163722589385	0.24624	1.330945	-0.40062023031646	0.24979	1.370997	0.998777089512567	0.37645	0.59774	0.34471	0	0.59043	0.45803	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	5.22	4.32	0.50899	1.360000	0.33729	2.363000	0.32383	0.599000	0.40250	0.011000	0.18532	0.063000	0.22074	0.936000	0.47498	0.0:0.8151:0.1849:0.0	14.614	0.68132	727	0.54702	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1871.98	33	chr2	176100106	.	C	A	1871.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.013;DP=988;ExcessHet=0.0000;FS=1.148;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.17;ReadPosRankSum=-9.600e-02;SOR=0.753	GT:AD:DP:GQ:PL	0/1:105,79:184:99:1886,0,2618	20	0	1	0
chr2	178632203	178632203	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon64:c.C16496G:p.S5499C	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	YES	1	1518	3	0	0	3	0.000987167	.	.	449819	not_specified|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy	MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	0.735	N	-0.27	T	-0.276	T	0.384	T	0.501	2.395	13.97	6.03	2.861	9.807	20.557	0.507	0.0120741338723	0.0002	.	6.125e-05	0	0	0	0	0.0001	0	0	3.23e-05	5	154602	rs377015571	1.236e-05	1.3e-05	1.229e-05	1.243e-05	0.0002	7.72e-06	6.37e-06	6.54e-06	5.04e-06	2.994e-05	0	0	0	0	0.0002	1.172e-05	4.987e-05	0	1.973e-05	1.97e-05	3.854e-05	0	4.412e-05	5.24e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.412e-05	0	0	0.009	0.59928	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999999	0.81001	D	1.52	0.38360	L	-0.27	0.67367	T	-3.76	0.72240	D	0.43	0.67908	-0.2763	0.75641	T	0.384	0.73995	T	9	0.2945674	0.47028	T	0.012074	0.30309	T	0.507	0.78786	.	.	0.474876406573	0.47116	.	.	0.458380669649	0.45448	0.546233534813	0.45326	T	.	.	.	-0.081556	0.39462	T	-0.17091	0.57360	T	0.109447616953563	0.13366	T	0.886311	0.61284	D	.	.	.	.	.	.	.	.	-2.659	0.06965	T	.	.	0.285	0.51772	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.340641	0.46033	22.2	0.91785959840255715	0.21090	0.99432	0.95955	D	AEFBI	0.961094	0.98219	D	0.806653778161442	0.86520	8.912091	0.862255028835627	0.93711	12.22712	0.999999999999996	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.03	6.03	0.97798	9.940000	0.98890	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.557	0.99307	432	0.80690	.;.;Immunoglobulin I-set|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin subtype;Immunoglobulin I-set|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	1	0	0	0	0	0	0	0.02381	1243.98	34	chr2	178632203	.	G	C	1243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=810;ExcessHet=0.0000;FS=0.724;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=0.773;SOR=0.582	GT:AD:DP:GQ:PL	0/1:57,51:108:99:1258,0,1326	20	0	1	0
chr2	178756410	178756410	A	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133437:exon44:c.T10553C:p.I3518T	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	.	2	1514	5	1	0	7	0.00230643	.	.	517488	not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_specified	MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	.	.	-0.26	T	-0.929	T	0.154	T	0.035	0.648	7.477	1.32	-0.073	1.165	1.401	0.141	0.012017491557	.	0.000798722	0.0002	0.0001	0	0	0	3.003e-05	0	0.0012	0.0001746	27	154602	rs527924868	9.374e-05	9.371e-05	7.216e-05	0.0001	0.0012	8.094e-05	7.586e-05	0.0010	0.0010	0	2.237e-05	0	0	0	0.0005	2.159e-05	6.626e-05	0.0012	0.0001	0.0001	5.14e-05	0.0002	0.0023	7.087e-05	5.744e-05	0.0013	0.0010	7.217e-05	0	0	0	0	0	0	4.41e-05	0	0.0023	0.376	0.11334	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.26	0.67187	T	-0.23	0.10656	N	0.177	0.19055	-0.9291	0.44270	T	0.154	0.48378	T	8	0.0072597563	0.00165	T	0.012017	0.30212	T	0.141	0.37795	0.53	0.63707	0.39798585902	0.39410	.	.	0.105715252096	0.11951	.	.	.	.	.	.	-0.559901	0.00254	T	-0.617569	0.11376	T	0.0202820408286895	0.00728	T	0.39866	0.10107	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.304585	0.17072	12.94	0.71462420838090823	0.09637	0.04325	0.09882	N	AEFGBI	.	.	.	-0.710662544728301	0.15721	0.7947848	-0.716643614856378	0.16546	0.8758316	0.999927896473403	0.46280	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.16	1.32	0.20897	1.200000	0.31854	.	.	0.756000	0.94297	0.001000	0.13787	0.000000	0.08366	0.821000	0.38685	0.3985:0.2468:0.2329:0.1217	1.401	0.02134	341	0.85936	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	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	2264.98	45	chr2	178756410	.	A	G	2264.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.431;DP=987;ExcessHet=0.0000;FS=3.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.34;ReadPosRankSum=0.449;SOR=0.619	GT:AD:DP:GQ:PL	0/1:77,81:158:99:2279,0,2114	20	0	1	0
chr2	178777862	178777862	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon24:c.G4184C:p.R1395P	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	1451	68	3	0	74	0.0248656	.	.	56211	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|Cardiomyopathy|not_specified|Cardiovascular_phenotype|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	1.655	L	0.24	T	-0.403	T	0.249	T	0.767	3.188	16.67	5.45	2.723	7.584	19.254	0.459	.	0.0058	0.0103834	0.0111	0.0012	0.0060	0.0088	0.0180	0.0116	0.0132	0.0174	0.010375	1604	154602	rs72647876	0.0097	0.0097	0.0093	0.0100	0.0171	0.0095	0.0095	0.0163	0.0160	0.0014	0.0081	0.0081	0.0042	0.0183	0.0137	0.0092	0.0102	0.0171	0.0084	0.0085	0.0071	0.0098	0.0162	0.0080	0.0079	0.0137	0.0131	0.0013	0	0.0153	0.0089	0.0102	0.0200	0.0102	0.0087	0.0114	0.0162	0.095	0.54683	T	0.005	0.72224	D	1.0	0.90584	D	0.997	0.97372	D	.	.	.	.	0.999288	0.58761	D	.	.	.	-0.14	0.65006	T	-4.19	0.85844	D	0.188	0.76760	-0.4030	0.71932	T	0.249	0.61855	T	9	0.008319944	0.00189	T	.	.	.	0.459	0.75687	.	.	.	.	.	.	0.552916037637	0.52078	0.748514950275	0.74228	T	.	.	.	-0.158262	0.27029	T	0.0135168	0.71209	D	0.0142363712654734	0.00281	T	0.940956	0.82493	D	.	.	.	.	.	.	.	.	-8.108	0.61805	D	.	.	0.515	0.65265	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.006971	0.59081	24.1	0.95907815994375256	0.28150	0.98680	0.85501	D	AEFGBI	0.981315	0.99870	D	0.803908257609293	0.86349	8.857237	0.804679695527492	0.90117	10.26354	0.999999999999429	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.45	5.45	0.79688	7.669000	0.82880	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.254	0.93927	346	0.85643	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.09524	7570.92	151	chr2	178777862	.	C	G	7570.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.68;DP=1317;ExcessHet=0.6776;FS=1.104;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=-4.120e-01;SOR=0.576	GT:AD:DP:GQ:PL	0/1:75,98:173:99:2738,0,1700	17	0	4	0
chr2	189805814	189805814	-	A	exonic	PMS1	.	frameshift insertion	PMS1:NM_001321049:exon4:c.478dupA:p.L164Vfs*4,	.	.	439	771	31	0	281	312	0.0197076	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2849.26	33	chr2	189805813	.	TA	TAA,T	2849.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-9.480e-01;DP=1006;ExcessHet=1.7912;FS=0.538;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=6.80;ReadPosRankSum=-3.040e-01;SOR=0.630	GT:AD:DP:GQ:PL	0/1:33,32,0:65:99:662,0,721,761,817,1578	15	0	5	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	0/1:57,37:94:99:309,0,693	0	0	19	2
chr2	215419286	215419286	C	T	exonic	FN1	.	nonsynonymous SNV	FN1:NM_001306129:exon12:c.G1775A:p.R592H	Glomerulopathy with fibronectin deposits 2, Autosomal dominant;Plasma fibronectin deficiency, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	708013	Chronic_kidney_disease|not_provided	Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.996	D	0.000	D	1.000	D	1.61	L	0.91	T	-0.829	T	0.211	T	0.561	5.010	29.5	6.06	2.882	4.036	13.772	0.179	0.0128955107959	0.0023	0.000599042	0.0037	0.0006	0.0006	0	0.0091	0.0053	0.0033	0.0012	0.0033764	522	154602	rs147831535	0.0028	0.0028	0.0029	0.0027	0.0031	0.0027	0.0027	0.0030	0.0030	0.0002	0.0005	0.0001	0.0001	0.0069	0.0005	0.0031	0.0019	0.0011	0.0021	0.0021	0.0019	0.0022	0.0033	0.0019	0.0018	0.0029	0.0028	0.0004	0	0.0007	0	0	0.0051	0	0.0033	0.0024	0.0015	0.041	0.53900	D	0.085	0.42261	T	0.998	0.90584	D	0.623	0.83170	P	0.000266	0.46590	D	0.091904	0.999982	0.58761	D	1.61	0.41143	L	0.91	0.44856	T	-0.72	0.24244	N	0.586	0.64563	-0.8294	0.53339	T	0.211	0.57067	T	10	0.015008301	0.00315	T	0.012896	0.31871	T	0.179	0.44899	.	.	0.801889373885	0.80004	0.23171762284513261	0.23086	1.01917520793	0.75045	0.611265778542	0.54494	T	0.200251	0.55777	T	-0.368483	0.03672	T	-0.301673	0.44548	T	0.0229380171943639	0.01017	T	0.966303	0.97864	D	0.21841252	0.44348	0.113940194	0.27501	0.17307109	0.38033	0.12706754	0.30593	-6.499	0.50278	T	0.16216808832029225	0.19902	0.124	0.28721	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.828578	0.78718	27.0	0.99943859222440889	0.99868	0.83226	0.42361	D	AEFDBHCIJ	0.649276	0.62380	D	0.624252992920057	0.74711	6.179396	0.673440140472904	0.80365	7.283156	0.999999999999566	0.74766	0.722319	0.85440	0	0.588015	0.36545	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	6.06	6.06	0.98340	4.083000	0.57365	6.003000	0.52520	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9303:0.0:0.0697	13.772	0.62516	772	0.48957	.;.;.;.;.;Fibronectin, type I|Fibronectin, type I|Fibronectin, type I|Fibronectin, type I|Fibronectin, type I;.;.;.;.;.	.	.	.	.	.	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	1203.98	34	chr2	215419286	.	C	T	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.770e-01;DP=865;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.33;ReadPosRankSum=0.901;SOR=0.730	GT:AD:DP:GQ:PL	0/1:73,56:129:99:1218,0,1715	20	0	1	0
chr2	226795330	226795330	C	T	exonic	IRS1	.	nonsynonymous SNV	IRS1:NM_005544:exon1:c.G3409A:p.D1137N,	.	.	402	1119	1	0	0	1	0.000446628	.	.	697366	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.72	T	0.082	B	0.017	B	0.005	N	0.985	D	0.345	N	0.41	T	-1.094	T	0.016	T	0.028	2.465	14.20	4.93	2.733	4.139	14.305	0.116	.	7.7e-05	0.0107827	0.0044	0.0003	0.0003	0.0602	0	0	0.0033	0.0002	0.0040038	619	154602	rs3731594	0.0016	0.0016	0.0017	0.0015	0.0541	0.0015	0.0015	0.0522	0.0514	5.974e-05	0.0001	0	0.0541	0	0	1.709e-05	0.0025	0.0002	0.0021	0.0022	0.0022	0.0021	0.0550	0.0019	0.0019	0.0498	0.0477	0.0002	0	0.0014	0	0.0550	0	0	4.41e-05	0.0024	0.0004	0.201	0.20306	T	0.518	0.10536	T	0.082	0.24665	B	0.017	0.18140	B	0.004598	0.33588	N	0.228721	0.984749	0.40187	D	0.985	0.24966	L	0.41	0.57100	T	-1.05	0.27463	N	0.113	0.10056	-1.0936	0.04959	T	0.016	0.06616	T	10	0.0028790236	0.00046	T	.	.	.	0.116	0.32463	.	.	0.690543642882	0.68788	0.1699474549654811	0.16914	0.325336372973	0.34688	0.653457641602	0.60477	T	0.356671	0.72349	T	-0.629458	0.00096	T	-0.627483	0.10605	T	0.00881825119810012	0.00109	T	0.715628	0.32820	T	0.095137045	0.22383	0.08505842	0.19613	0.100639716	0.23764	0.09035161	0.21183	-4.064	0.24757	T	.	.	0.112	0.21913	B	.	.	3.533963	0.49592	22.8	0.99384584485389282	0.62024	0.89879	0.50636	D	AEFDBHCIJ	0.472205	0.51742	N	-0.177975039957093	0.34052	1.939087	0.0511493900144301	0.42128	2.542737	0.999999999914173	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.26897	0.05253	2	0.604944	0.38103	0	.	.	5.81	4.93	0.64394	1.836000	0.38831	5.957000	0.51754	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.940000	0.48062	0.0:0.9292:0.0:0.0708	14.305	0.65935	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	999.98	40	chr2	226795330	.	C	T	999.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.870e-01;DP=1095;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=-1.500e-01;SOR=0.745	GT:AD:DP:GQ:PL	0/1:43,40:83:99:1014,0,1129	20	0	1	0
chr2	232407089	232407089	C	G	exonic	ALPG	.	nonsynonymous SNV	ALPG:NM_031313:exon2:c.C100G:p.Q34E,	.	.	426	1070	26	0	0	26	0.0120037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.024	B	0.01	B	0.067	N	1.000	N	2.72	M	1.2	T	-0.999	T	0.087	T	0.116	-1.848	0.009	-0.276	-0.074	-0.050	2.424	0.027	.	.	.	0.0185	0.0118	0.0080	0.0423	0.0379	0.0176	0.0264	0.0133	0.0001423	22	154602	rs146369944	0.0020	0.0031	0.0021	0.0020	0.0060	0.0020	0.0020	0.0044	0.0039	0.0015	0.0008	7.681e-05	0.0008	0.0260	0.0060	0.0011	0.0024	0.0010	0.0034	0.0035	0.0024	0.0045	0.0023	0.0032	0.0031	0.0020	0.0019	0.0010	0	0.0005	0	0.0014	0.0272	0.0068	0.0023	0.0024	0.0017	0.206	0.19927	T	0.604	0.07842	T	0.024	0.19075	B	0.01	0.14941	B	0.067388	0.21744	N	0.518247	1	0.08975	N	2.255	0.64187	M	1.2	0.37405	T	-1.59	0.38345	N	0.182	0.19728	-0.9989	0.30227	T	0.087	0.33662	T	10	0.010338604	0.00230	T	.	.	.	0.027	0.05988	.	.	.	.	0.8038667715211593	0.80340	0.165376590012	0.18654	0.414885997772	0.27132	T	0.057159	0.30489	T	-0.590284	0.00167	T	-0.621835	0.11042	T	0.0116233311594767	0.00177	T	0.0672933	0.00489	T	0.060269307	0.12347	0.052819178	0.08778	0.060269307	0.12346	0.052819178	0.08778	-7.742	0.59299	D	.	.	0.096	0.15296	B	.	.	0.535574	0.09040	5.825	0.20155188850739872	0.00712	0.07167	0.13193	N	AEFDBCI	0.084601	0.17147	N	-0.942842410891978	0.09854	0.4682348	-1.10739888169491	0.07557	0.3680996	0.123914479892608	0.16946	0.729952	0.87565	0	0.610034	0.51514	0	0.877121	0.99996	0	0.613276	0.41899	0	.	.	2.19	-0.276	0.12264	-0.634000	0.05575	1.500000	0.26949	-0.573000	0.04775	0.000000	0.06391	0.604000	0.25734	0.021000	0.11733	0.2975:0.4607:0.1215:0.1203	2.424	0.04183	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	33.98	69	chr2	232407089	.	C	G	33.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.344e+00;DP=1803;ExcessHet=0.0000;FS=0.778;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.86;MQRankSum=-1.289e+01;QD=0.16;ReadPosRankSum=0.506;SOR=0.545	GT:AD:DP:GQ:PL	0/1:181,27:208:48:48,0,5038	20	0	1	0
chr2	233204361	233204361	G	A	exonic	INPP5D	.	nonsynonymous SNV	INPP5D:NM_001017915:exon26:c.G3211A:p.G1071S	.	.	424	1080	15	3	0	21	0.00962861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	T	0.001	B	0.005	B	0.226	N	1.000	N	.	.	-3.85	D	-0.079	T	0.555	D	0.28	-1.568	0.015	-3.65	-0.664	-0.077	4.583	0.363	.	0.0009	0.00399361	0.0044	0.0004	0.0008	0.0001	0.0245	0.0021	0.0096	0.0119	0.0034993	541	154602	rs201835044	0.0023	0.0023	0.0020	0.0027	0.0121	0.0023	0.0022	0.0115	0.0112	0.0001	0.0010	0.0025	0.0001	0.0242	0.0056	0.0007	0.0024	0.0121	0.0032	0.0032	0.0018	0.0046	0.0141	0.0029	0.0029	0.0114	0.0104	0.0002	0	0.0005	0.0023	0.0006	0.0267	0.0068	0.0015	0.0019	0.0141	0.81	0.03036	T	0.649	0.07196	T	0.001	0.07471	B	0.005	0.11217	B	0.226060	0.03487	N	1.502010	1	0.08975	N	.	.	.	-3.91	0.96047	D	-0.16	0.09460	N	0.033	0.00882	-0.0794	0.80567	T	0.555	0.83724	D	9	0.005005479	0.00108	T	.	.	.	0.363	0.68319	.	.	0.64318162235	0.64023	0.21220313058028137	0.21136	0.568978505272	0.53093	0.376267433167	0.21727	T	0.189903	0.54427	T	-0.29231	0.09406	T	-0.182271	0.56313	T	0.00114685909032254	0.00011	T	.	.	.	0.022848252	0.00977	0.034002054	0.02391	0.022848252	0.00977	0.034002054	0.02390	-3.568	0.17395	T	.	.	0.068	0.03773	B	.;.;.	.;.;.	0.266732	0.06449	2.920	0.9359925467849376	0.23455	0.05062	0.10853	N	AEFDBCI	0.022055	0.01055	N	-1.31630893350496	0.03488	0.1558982	-1.37956244714507	0.03471	0.1619534	0.999948501950974	0.47345	0.631515	0.41029	0	0.697927	0.68747	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	3.54	-3.65	0.04212	-0.151000	0.10160	-0.481000	0.08919	-0.102000	0.15922	0.474000	0.26753	0.000000	0.08366	0.638000	0.32368	0.429:0.0:0.3988:0.1722	4.583	0.11660	825	0.40060	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3471.11	33	chr2	233204361	.	G	A	3471.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.76;DP=899;ExcessHet=0.1072;FS=0.971;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=1.91;SOR=0.644	GT:AD:DP:GQ:PL	0/1:60,52:112:99:1395,0,1514	19	0	2	0
chr2	237511045	237511045	A	G	exonic	MLPH	.	nonsynonymous SNV	MLPH:NM_001042467:exon4:c.A389G:p.K130R	Griscelli syndrome, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.996	D	0.000	D	1.000	D	2	M	-1.09	T	0.162	D	0.574	D	0.431	4.821	27.3	4.98	1.872	6.743	13.869	0.602	0.0249046874356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	0.91255	T	0.072	0.92824	T	0.998	0.73220	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999801	0.49283	D	2.715	0.79425	M	-1.09	0.77206	T	-2.95	0.61580	D	0.174	0.45615	0.162	0.85267	D	0.574	0.84630	D	10	0.68432844	0.71469	D	0.024905	0.47894	T	0.602	0.84291	0.53	0.63707	0.840501159006	0.83897	0.40391468645847084	0.40307	0.20160109141	0.22562	0.451005518436	0.32081	T	0.073743	0.85220	T	0.0881452	0.62980	D	-0.111162	0.62518	T	0.987821161746979	0.78250	D	0.707729	0.58144	T	0.71190935	0.78712	0.7163205	0.83255	0.71190935	0.78713	0.7163205	0.83256	-10.062	0.74282	D	0.3699008321336623	0.46552	0.076	0.24901	B	.;.;.;.;.	.;.;.;.;.	3.264696	0.44665	22.0	0.9988227815012487	0.95813	0.93979	0.59750	D	AEFBHCIJ	0.922303	0.89707	D	0.620412136416174	0.74467	6.13765	0.583508292066533	0.73756	6.023102	0.999999999956831	0.74766	0.626454	0.40138	0	0.563428	0.19063	0	0.80507	0.99327	0	0.567339	0.31927	0	.	.	4.98	4.98	0.65679	6.774000	0.74807	5.798000	0.49917	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.777000	0.36790	1.0:0.0:0.0:0.0	13.869	0.63110	958	0.09170	Melanophilin, FYVE-related domain;.;Melanophilin, FYVE-related domain;Melanophilin, FYVE-related 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	1575.98	45	chr2	237511045	.	A	G	1575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.16;DP=971;ExcessHet=0.0000;FS=1.301;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.23;ReadPosRankSum=-1.678e+00;SOR=0.825	GT:AD:DP:GQ:PL	0/1:91,63:154:99:1590,0,2177	20	0	1	0
chr2	237749215	237749215	C	T	exonic	LRRFIP1	.	nonsynonymous SNV	LRRFIP1:NM_001137551:exon4:c.C206T:p.P69L	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.988	D	0.000	D	1.000	D	1.59	L	0.82	T	-0.601	T	0.266	T	0.808	4.671	25.8	5.52	2.581	5.474	18.447	0.251	0.0678025796796	.	0.00159744	0.0008	0	0.0002	0	0	3.061e-05	0	0.0059	0.0006921	107	154602	rs560891479	0.0004	0.0004	0.0002	0.0006	0.0062	0.0004	0.0004	0.0058	0.0056	0	2.237e-05	0	2.519e-05	0	0.0002	1.439e-05	0.0004	0.0062	0.0003	0.0003	0.0002	0.0004	0.0077	0.0002	0.0002	0.0058	0.0051	4.818e-05	0	0.0001	0	0	0	0	2.942e-05	0	0.0077	0.022	0.78490	D	0.204	0.76473	T	1.0	0.90584	D	0.979	0.77976	D	0.000282	0.46274	D	0.197364	0.999977	0.58761	D	2.28	0.64929	M	0.82	0.48142	T	-4.39	0.83092	D	0.474	0.60241	-0.6012	0.64767	T	0.266	0.63727	T	10	0.007073909	0.00161	T	0.067803	0.70271	D	0.251	0.56024	.	.	0.649787542483	0.64687	0.33614060920247174	0.33527	0.411689779384	0.41920	0.593770384789	0.52026	T	0.101474	0.40826	T	-0.189737	0.22297	T	-0.0431241	0.67491	D	0.178823596370896	0.19161	T	0.889011	0.64163	D	0.3414556	0.56395	0.42803988	0.66530	0.3414556	0.56395	0.42803988	0.66530	-12.606	0.87677	D	.	.	0.161	0.51840	B	.;.;.;.;.	.;.;.;.;.	5.295701	0.88915	29.8	0.9985027976895714	0.92925	0.99267	0.93693	D	AEFBI	0.665147	0.63407	D	0.605130900487045	0.73499	5.976009	0.602571371128348	0.75127	6.255799	0.999999999987454	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	5.600000	0.67286	7.585000	0.61076	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.576000	0.30797	0.0:1.0:0.0:0.0	18.447	0.90633	986	0.02773	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	513.98	41	chr2	237749215	.	C	T	513.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.455;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.24;ReadPosRankSum=6.000e-03;SOR=0.684	GT:AD:DP:GQ:PL	0/1:46,25:71:99:528,0,1145	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	0/2:31,13,29:81:99:594,292,1340,0,449,554	0	0	1	0
chr2	241570277	241570277	C	T	exonic	BOK	.	nonsynonymous SNV	BOK:NM_032515:exon4:c.C502T:p.R168C,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	1.935	M	0.82	T	-0.554	T	0.263	T	0.83	3.361	17.32	4.94	2.269	1.564	12.871	0.393	0.106984599396	.	.	7.238e-05	0	0.0010	0	0	0	0	0.0001	2.59e-05	4	154602	rs765671952	2.414e-05	2.531e-05	2.528e-05	2.298e-05	0.0005	1.738e-05	1.533e-05	8.338e-05	4.292e-05	0.0001	0	7.915e-05	0	0	0.0005	1.381e-05	3.431e-05	0.0001	3.956e-05	3.946e-05	2.58e-05	5.395e-05	0.0004	1.72e-05	1.133e-05	7.29e-05	3.029e-05	2.441e-05	0	0	0	0	9.43e-05	0	2.94e-05	0	0.0004	0.002	0.72154	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.34	0.67151	M	0.82	0.48142	T	-5.3	0.84387	D	0.828	0.82358	-0.5540	0.66634	T	0.263	0.63394	T	10	0.81147635	0.80427	D	0.106985	0.78285	D	0.393	0.70844	.	.	0.69196344514	0.68931	0.697500058733462	0.69691	0.664657686102	0.59097	0.785151898861	0.79707	T	0.321115	0.69225	T	-0.0633057	0.42389	T	-0.0365619	0.67933	D	0.811041831970215	0.47122	D	0.975769	0.91515	D	0.6916271	0.77599	0.49510565	0.70800	0.6916271	0.77601	0.49510565	0.70801	-8.418	0.63884	D	.	.	0.532	0.66029	A	.	.	4.973573	0.82330	27.8	0.99915498191920993	0.98379	0.77814	0.38305	D	AEFDGBI	0.427715	0.49155	N	0.510431556028567	0.67705	5.117421	0.448170415003909	0.64600	4.718853	0.999999630637608	0.74766	0.766844	0.99359	0	0.573888	0.26702	0	0.851219	0.99655	0	0.714379	0.83352	0	.	.	4.94	4.94	0.64645	1.452000	0.34767	5.773000	0.49755	0.531000	0.24825	1.000000	0.71638	1.000000	0.68203	0.185000	0.21450	0.3102:0.6898:0.0:0.0	12.871	0.57354	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	0.02381	1157.98	37	chr2	241570277	.	C	T	1157.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=860;ExcessHet=0.0000;FS=0.819;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=-1.051e+00;QD=11.24;ReadPosRankSum=-5.260e-01;SOR=0.879	GT:AD:DP:GQ:PL	0/1:55,48:103:99:1172,0,1300	20	0	1	0
chr3	9943452	9943452	C	T	exonic	CRELD1	.	nonsynonymous SNV	CRELD1:NM_001374320:exon8:c.C901T:p.R301C	Atrioventricular septal defect, partial, with heterotaxy syndrome, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	18466	not_provided|Atrioventricular_septal_defect,_susceptibility_to,_2	MedGen:C3661900|MONDO:MONDO:0011650,MedGen:C1853508,OMIM:606217	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	1.0	D	0.997	D	0.009	N	1.000	D	3.05	M	-3.06	D	0.981	D	0.888	D	0.87	3.863	19.62	4.96	2.313	3.474	14.946	0.715	0.303919901057	0.0013	0.000798722	0.0006	0.0005	0.0003	0.0001	0.0005	0.0010	0	6.056e-05	0.0006662	103	154602	rs28942091	0.0008	0.0008	0.0008	0.0008	0.0010	0.0007	0.0007	0.0009	0.0009	0.0003	0.0005	0	2.519e-05	0.0003	0.0010	0.0009	0.0007	0.0001	0.0008	0.0008	0.0008	0.0008	0.0013	0.0007	0.0006	0.0011	0.0010	0.0003	0	0.0011	0	0	9.429e-05	0	0.0013	0.0005	0.0002	0.178	0.23271	T	0.09	0.46862	T	1.0	0.90584	D	0.973	0.86255	D	0.008732	0.30696	N	0.374939	0.999988	0.54805	D	3.155	0.88459	M	-3.06	0.92457	D	-0.99	0.27876	N	0.773	0.77039	0.981	0.96874	D	0.888	0.96285	D	9	0.30895013	0.48386	T	0.30392	0.90972	D	0.715	0.89877	.	.	0.984984454091	0.98482	0.8250822619629183	0.82466	0.227251636705	0.25277	0.264449745417	0.05432	T	0.382466	0.74454	T	0.0981197	0.64089	D	0.317725	0.88996	D	0.0682023692009495	0.08397	T	0.816518	0.47523	T	0.18486987	0.39822	0.13095032	0.31454	0.21638325	0.44096	0.12236571	0.29516	-10.066	0.74306	D	0.17994534461799375	0.23134	0.421	0.60736	A	.;.;.;.	.;.;.;.	4.281242	0.65215	24.8	0.9993225417624213	0.99439	0.93199	0.57584	D	AEFDBCI	0.491304	0.52842	N	0.566172902454911	0.71074	5.595708	0.451085041580149	0.64785	4.742043	0.999999999999941	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.96	4.96	0.65153	3.611000	0.53881	3.331000	0.37627	-0.190000	0.09434	1.000000	0.71638	0.998000	0.33993	0.614000	0.31742	0.0:1.0:0.0:0.0	14.946	0.70685	628	0.65206	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1305.98	39	chr3	9943452	.	C	T	1305.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=874;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.40;ReadPosRankSum=0.370;SOR=0.695	GT:AD:DP:GQ:PL	0/1:81,58:139:99:1320,0,1880	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	0/1:190,60:255:99:.:.:485,0,5541	8	0	12	1
chr3	38306189	38306189	C	T	exonic	SLC22A14	.	nonsynonymous SNV	SLC22A14:NM_004803:exon1:c.C163T:p.L55F	.	.	423	1076	22	1	0	24	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.823	P	0.434	B	0.002	N	1.000	N	1.335	L	0.99	T	-1.018	T	0.058	T	0.098	2.219	13.38	-2.51	-0.342	0.063	6.796	0.051	.	0.0078	0.00599042	0.0055	0.0078	0.0019	0	0.0012	0.0061	0.0055	0.0087	0.0056856	879	154602	rs112787944	0.0068	0.0068	0.0067	0.0068	0.0123	0.0067	0.0066	0.0100	0.0092	0.0083	0.0021	0.0049	2.519e-05	0.0011	0.0123	0.0073	0.0052	0.0097	0.0066	0.0066	0.0065	0.0067	0.0106	0.0062	0.0061	0.0085	0.0082	0.0093	0.0515	0.0039	0.0046	0	0.0008	0.0306	0.0062	0.0024	0.0106	0.005	0.63226	D	0.022	0.57587	D	0.823	0.45803	P	0.434	0.45506	B	0.002119	0.37227	N	0.285900	1	0.08975	N	1.935	0.51832	L	0.99	0.41750	T	-2.13	0.48354	N	0.046	0.06720	-1.0181	0.24334	T	0.058	0.24465	T	10	0.007861435	0.00179	T	.	.	.	0.051	0.14325	.	.	0.0401082797425	0.02173	0.5053995675289253	0.50461	0.295255755646	0.31929	0.277488410473	0.07145	T	0.008921	0.08152	T	-0.625384	0.00102	T	-0.661702	0.08151	T	0.0227254980599298	0.00991	T	0.635136	0.24942	T	0.08249428	0.19006	0.087984994	0.20486	0.08249428	0.19006	0.087984994	0.20485	-6.147	0.47493	T	.	.	0.145	0.32992	B	.;.	.;.	0.602540	0.09711	6.479	0.95674332711671883	0.27524	0.07980	0.13962	N	AEFDBI	0.087905	0.17823	N	-0.91505719070562	0.10490	0.5014964	-1.07753429307434	0.08143	0.399121	0.00131760683782161	0.08437	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.62	-2.51	0.05996	-0.250000	0.08849	0.241000	0.16308	-0.136000	0.12710	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.4566:0.1371:0.4062:0.0	6.796	0.22911	527	0.73864	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	4977.11	38	chr3	38306189	.	C	T	4977.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.94;DP=1175;ExcessHet=0.1072;FS=0.778;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.31;ReadPosRankSum=1.09;SOR=0.635	GT:AD:DP:GQ:PL	0/1:106,87:193:99:2425,0,2951	19	0	2	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	0/1:44,41,0,0,0,0,0:85:99:1551,0,1726,1685,1849,3534,1685,1849,3534,3534,1685,1849,3534,3534,3534,1685,1849,3534,3534,3534,3534,1685,1849,3534,3534,3534,3534,3534	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	0/1:44,41,0,0,0,0,0:85:99:1551,0,1726,1685,1849,3534,1685,1849,3534,3534,1685,1849,3534,3534,3534,1685,1849,3534,3534,3534,3534,1685,1849,3534,3534,3534,3534,3534	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	0/1:44,41,0,0,0,0,0:85:99:1551,0,1726,1685,1849,3534,1685,1849,3534,3534,1685,1849,3534,3534,3534,1685,1849,3534,3534,3534,3534,1685,1849,3534,3534,3534,3534,3534	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	0/1:44,41,0,0,0,0,0:85:99:1551,0,1726,1685,1849,3534,1685,1849,3534,3534,1685,1849,3534,3534,3534,1685,1849,3534,3534,3534,3534,1685,1849,3534,3534,3534,3534,3534	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	0/1:44,41,0,0,0,0,0:85:99:1551,0,1726,1685,1849,3534,1685,1849,3534,3534,1685,1849,3534,3534,3534,1685,1849,3534,3534,3534,3534,1685,1849,3534,3534,3534,3534,3534	1	2	2	0
chr3	42210088	42210088	-	GGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGA:p.E624_G625insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	1/2:0,38,39,0,0:77:99:3160,1634,1731,1541,0,1450,3187,1750,1573,3297,3187,1750,1573,3297,3297	1	3	1	0
chr3	42210088	42210088	-	GGAGGAGGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGAGGAGGA:p.E624_G625insEEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	1/2:0,38,39,0,0:77:99:3160,1634,1731,1541,0,1450,3187,1750,1573,3297,3187,1750,1573,3297,3297	1	3	1	0
chr3	42210088	42210088	-	GGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGA:p.E624_G625insE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	1/2:0,38,39,0,0:77:99:3160,1634,1731,1541,0,1450,3187,1750,1573,3297,3187,1750,1573,3297,3297	1	3	1	0
chr3	46265739	46265739	G	A	exonic	CCR3	.	nonsynonymous SNV	CCR3:NM_178329:exon2:c.G581A:p.S194N	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.001	B	0.012	B	0.405	N	1.000	N	0.165	N	1.15	T	-1.042	T	0.041	T	0.114	-1.010	0.246	-2.41	-0.118	-0.417	3.222	0.059	0.00603235670968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.608	0.05918	T	0.507	0.11115	T	0.001	0.07471	B	0.012	0.16012	B	0.405076	0.04558	N	1.385010	0.999998	0.08975	N	0.125	0.08623	N	1.15	0.38236	T	-0.31	0.12099	N	0.062	0.04547	-1.0423	0.16621	T	0.041	0.17657	T	10	0.24103743	0.41274	T	0.006032	0.15757	T	0.059	0.16972	0.39	0.41279	0.33110744837	0.32714	0.19931071565780115	0.19848	0.0564297188094	0.06233	0.253579586744	0.04154	T	0.054802	0.29828	T	-0.311346	0.07631	T	-0.685003	0.06682	T	0.0251462379289241	0.01291	T	0.286671	0.05128	T	0.04061085	0.05830	0.048394173	0.07179	0.04061085	0.05830	0.048394173	0.07179	-3.698	0.19289	T	.	.	0.120	0.27222	B	.;.;.;.	.;.;.;.	-0.155108	0.03328	0.582	0.35015567469461695	0.02174	0.06052	0.12022	N	AEFDBI	0.109823	0.21801	N	-1.17013152682792	0.05457	0.2488049	-1.17700673248806	0.06295	0.3025908	3.56815464653417E-5	0.03775	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.86	-2.41	0.06184	-0.640000	0.05537	-0.246000	0.10547	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.3688:0.3838:0.0976:0.1498	3.222	0.06320	450	0.79359	GPCR, rhodopsin-like, 7TM;.;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	0.02381	2470.98	33	chr3	46265739	.	G	A	2470.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.343e+00;DP=919;ExcessHet=0.0000;FS=1.119;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=-1.015e+00;SOR=0.635	GT:AD:DP:GQ:PL	0/1:94,97:191:99:2485,0,2503	20	0	1	0
chr3	46446446	46446446	C	T	exonic	LTF	.	nonsynonymous SNV	LTF:NM_001199149:exon11:c.G1219A:p.V407M	.	.	427	1036	57	2	0	61	0.0285982	.	.	708874	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.08	T	0.995	D	0.891	P	0.000	N	1.000	N	1.15	L	3.21	T	-0.993	T	0.023	T	0.123	3.185	16.66	-5.27	-1.295	-1.828	1.597	0.083	.	0.0072	0.00419329	0.0084	0.0022	0.0059	0	0.0006	0.0084	0.0110	0.0217	0.007846	1213	154602	rs61739313	0.0078	0.0078	0.0072	0.0084	0.0253	0.0077	0.0076	0.0220	0.0210	0.0009	0.0051	0.0172	7.56e-05	0.0007	0.0253	0.0072	0.0085	0.0221	0.0050	0.0050	0.0053	0.0048	0.0174	0.0047	0.0046	0.0144	0.0133	0.0013	0	0.0039	0.0190	0.0002	0.0007	0.0306	0.0068	0.0104	0.0174	0.034	0.46129	D	0.129	0.36101	T	0.791	0.67487	P	0.34	0.63213	B	0.000015	0.00162	N	6.968180	1	0.08975	N	1.725	0.44537	L	3.21	0.07125	T	-0.78	0.22944	N	0.166	0.17691	-0.9927	0.31906	T	0.023	0.09604	T	10	0.0039860904	0.00077	T	.	.	.	0.083	0.24192	.	.	0.126345400529	0.12197	0.34706130118152995	0.34620	0.124778172504	0.14054	0.258332192898	0.04694	T	0.083964	0.37173	T	-0.653136	0.00069	T	-0.694704	0.06119	T	0.0155953161609467	0.00356	T	0.146985	0.01214	T	0.14808123	0.33823	0.10696175	0.25742	0.14808123	0.33823	0.10696175	0.25742	-4.658	0.33246	T	.	.	0.112	0.28116	B	.;.;.;.	.;.;.;.	0.365685	0.07381	4.005	0.98318891806542186	0.40222	0.00740	0.03091	N	AEFDGBHI	0.038641	0.05498	N	-0.703131132027061	0.15934	0.8074205	-0.893101611508219	0.12256	0.6294228	0.999592495529945	0.40745	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.41	-5.27	0.02551	-1.816000	0.01814	-2.291000	0.03942	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.970000	0.54328	0.2332:0.2655:0.3335:0.1678	1.597	0.02505	422	0.81333	Transferrin-like domain|Transferrin-like domain|Transferrin-like domain;.;Transferrin-like domain|Transferrin-like domain|Transferrin-like domain;Transferrin-like domain|Transferrin-like domain|Transferrin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1521.98	33	chr3	46446446	.	C	T	1521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.638e+00;DP=805;ExcessHet=0.0000;FS=12.814;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=-8.560e-01;SOR=0.910	GT:AD:DP:GQ:PL	0/1:43,66:109:99:1536,0,1125	20	0	1	0
chr3	46709586	46709586	-	AAG	exonic	TMIE	.	nonframeshift insertion	TMIE:NM_001370524:exon4:c.210_211insAAG:p.K78_D79insK	Deafness, autosomal recessive 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	36052.73	62	chr3	46709583	.	TAAG	T,TAAGAAG	36052.73	.	AC=25,1;AF=0.595,0.024;AN=42;BaseQRankSum=-3.730e-01;DP=1535;ExcessHet=4.5793;FS=0.569;InbreedingCoeff=-0.2115;MLEAC=25,1;MLEAF=0.595,0.024;MQ=60.00;MQRankSum=0.00;QD=28.75;ReadPosRankSum=0.200;SOR=0.670	GT:AD:DP:GQ:PL	0/1:26,22,0:48:99:846,0,998,924,1065,1989	2	7	11	0
chr3	47417407	47417407	C	A	exonic	SCAP	.	nonsynonymous SNV	SCAP:NM_001320044:exon14:c.G2099T:p.G700V	.	.	423	1086	13	0	0	13	0.00594966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.023	B	0.049	B	0.082	N	1.000	D	0.695	N	0.88	T	-0.761	T	0.280	T	0.326	1.611	11.34	3.78	1.327	2.079	8.495	0.026	0.235139173524	0.0005	0.000199681	0.0017	0.0005	0.0023	0	0	0.0013	0.0038	0.0028	0.0005692	88	154602	rs368667083	0.0005	0.0005	0.0004	0.0006	0.0028	0.0005	0.0005	0.0023	0.0022	3.084e-05	0.0005	0.0006	8.053e-05	4.04e-05	0.0028	0.0004	0.0005	0.0026	0.0005	0.0005	0.0005	0.0005	0.0025	0.0004	0.0003	0.0014	0.0011	9.66e-05	0	0.0003	0.0009	0	0	0.0034	0.0006	0.0005	0.0025	0.029	0.45756	D	0.041	0.50514	D	0.007	0.14184	B	0.009	0.14300	B	0.081655	0.20854	N	0.511250	0.99995	0.58761	D	1.245	0.31408	L	-1.31	0.79666	T	-0.66	0.19085	N	0.356	0.39760	-0.7611	0.57345	T	0.280	0.65149	T	10	0.011494696	0.00251	T	0.235139	0.88442	D	0.026	0.05648	.	.	0.781689837656	0.77967	0.3237896988971577	0.32291	0.302057614253	0.32536	0.559126377106	0.47145	T	0.304556	0.67686	T	-0.318287	0.07039	T	-0.2349	0.51294	T	0.0122834131688905	0.00199	T	0.810219	0.46129	T	0.121218935	0.28510	0.109434545	0.26374	0.121218935	0.28510	0.109434545	0.26374	-5.842	0.44939	T	.	.	0.073	0.10256	B	.;.;.	.;.;.	1.972875	0.25064	16.63	0.96176023955323708	0.28945	0.87700	0.47328	D	AEFDBCI	0.489897	0.52761	N	-0.367827771219007	0.26622	1.454346	-0.220538961092951	0.30800	1.737378	0.999998161190436	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.66	3.78	0.42629	1.933000	0.39783	0.952000	0.22930	0.585000	0.30472	1.000000	0.71638	0.996000	0.32793	0.359000	0.25863	0.0:0.7627:0.1543:0.0831	8.495	0.32282	20	0.98525	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1121.98	42	chr3	47417407	.	C	A	1121.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.150e+00;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=-1.467e+00;SOR=0.818	GT:AD:DP:GQ:PL	0/1:28,41:69:99:1136,0,815	20	0	1	0
chr3	47852890	47852890	C	T	exonic	MAP4	.	nonsynonymous SNV	MAP4:NM_001384681:exon17:c.G3187A:p.D1063N	.	.	415	1105	2	0	0	2	0.000904159	.	.	3210935	MAP4-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	.	.	1.000	D	.	.	2.16	T	-0.336	T	0.283	T	0.155	4.691	26.0	4.73	2.137	5.954	16.675	0.208	.	0.0015	0.000599042	0.0037	0.0003	0	0	0.0107	0.0054	0.0106	0.0007	0.0014683	227	154602	rs149929003	0.0024	0.0024	0.0024	0.0024	0.0027	0.0024	0.0023	0.0027	0.0026	0.0004	0.0003	3.906e-05	7.731e-05	0.0043	0.0009	0.0027	0.0032	0.0003	0.0015	0.0015	0.0016	0.0015	0.0026	0.0014	0.0013	0.0023	0.0022	0.0002	0	0.0008	0	0	0.0029	0	0.0026	0.0009	0	0.017	0.59928	D	0.035	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	.	.	.	2.16	0.34841	T	-1.06	0.44284	N	0.614	0.63035	-0.3360	0.73959	T	0.283	0.65468	T	8	0.00811401	0.00184	T	.	.	.	0.208	0.49714	.	.	0.567854738105	0.56450	.	.	.	.	.	.	.	.	.	.	-0.456291	0.01036	T	-0.43251	0.29651	T	0.0529495140723534	0.06011	T	0.984402	0.94639	D	.	.	.	.	.	.	.	.	-9.208	0.69025	D	.	.	0.946	0.88107	P	.;.;.	.;.;.	2.677930	0.34927	19.76	0.99910384557276355	0.98022	0.87109	0.46551	D	AEFDBCI	0.798896	0.72531	D	0.620941121328068	0.74502	6.143385	0.600256661413865	0.74958	6.226655	0.999999999672897	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	6.014000	0.70438	7.569000	0.60664	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	16.675	0.85134	9	0.99126	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1719.98	33	chr3	47852890	.	C	T	1719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.174e+00;DP=839;ExcessHet=0.0000;FS=5.427;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=-4.450e-01;SOR=0.382	GT:AD:DP:GQ:PL	0/1:63,68:131:99:1734,0,1652	20	0	1	0
chr3	48678641	48678641	T	C	exonic	NCKIPSD	.	nonsynonymous SNV	NCKIPSD:NM_016453:exon12:c.A1888G:p.I630V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.536	P	0.223	B	0.000	U	0.997	D	1.745	L	0.92	T	-0.987	T	0.107	T	0.455	2.892	15.64	5.37	2.021	5.851	11.383	0.171	0.0119321600279	7.7e-05	0.000199681	0.0003	0	0	0	0	0.0002	0	0.0018	0.0002717	42	154602	rs367872973	0.0001	0.0001	8.712e-05	0.0001	0.0011	9.94e-05	9.348e-05	0.0009	0.0009	0	0	0	0	0	0	5.665e-05	9.935e-05	0.0011	8.533e-05	8.529e-05	2.569e-05	0.0001	0.0012	4.952e-05	3.959e-05	0.0005	0.0004	0	0	0	0	0	0	0	0.0001	0	0.0012	0.017	0.51248	D	0.031	0.54541	D	0.48	0.37827	P	0.143	0.37929	B	0.000016	0.62929	U	0.066668	0.996718	0.43371	D	2.085	0.57729	M	0.92	0.44461	T	-0.72	0.20358	N	0.579	0.60071	-0.9868	0.33396	T	0.107	0.38931	T	10	0.04712096	0.03989	T	0.011932	0.30037	T	0.171	0.43483	.	.	0.456462010053	0.45270	0.2212414874006189	0.22039	0.227959187337	0.25349	0.572364032269	0.49012	T	0.126572	0.45304	T	-0.371896	0.03499	T	-0.342357	0.40078	T	0.0518580872156677	0.05824	T	0.914109	0.69400	D	0.17212075	0.37884	0.08623454	0.19965	0.17212075	0.37884	0.08623454	0.19965	-4.587	0.32008	T	.	.	0.092	0.26232	B	.;.;.	.;.;.	3.359398	0.46376	22.3	0.99663832294329646	0.78138	0.97120	0.72807	D	AEFGBI	0.752593	0.69304	D	0.259554883041016	0.54113	3.577733	0.364138391700427	0.59363	4.113591	0.999999963319067	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.37	5.37	0.76949	5.832000	0.69048	6.096000	0.53498	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.1513:0.8487	11.383	0.49009	3	0.99430	.;Domain of unknown function DUF2013;Domain of unknown function DUF2013	.	.	.	.	.	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	948.98	33	chr3	48678641	.	T	C	948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.067;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=-6.280e-01;SOR=0.741	GT:AD:DP:GQ:PL	0/1:53,39:92:99:963,0,1430	20	0	1	0
chr3	49004926	49004926	G	A	exonic	P4HTM	.	nonsynonymous SNV	P4HTM:NM_177938:exon6:c.G953A:p.R318Q	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.966	D	0.000	D	0.992	D	2.41	M	0.29	T	-0.138	T	0.411	T	0.854	5.196	33	5.29	2.491	7.596	19.017	0.300	0.0274567051725	.	.	8.259e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs775391993	1.095e-05	1.163e-05	2.723e-06	1.926e-05	0.0002	6.48e-06	5.25e-06	9.791e-05	7.838e-05	0	0	3.827e-05	0	0	0	8.993e-07	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.39097	T	0.03	0.54159	D	0.995	0.90584	D	0.794	0.71341	P	0.000001	0.84330	D	0.056420	0.992235	0.41590	D	2.585	0.75554	M	0.29	0.58897	T	-2.59	0.60188	D	0.912	0.91391	-0.1375	0.79226	T	0.411	0.75964	T	10	0.7952781	0.79014	D	0.027457	0.50267	D	0.300	0.62068	0.651	0.78858	0.72585821836	0.72343	0.7874511338284829	0.78697	0.355098685327	0.37273	0.534244120121	0.43632	T	0.22458	0.58905	T	0.104855	0.64812	D	0.115494	0.77935	D	0.964865148067474	0.67089	D	0.952605	0.81930	D	0.37138867	0.58687	0.26345894	0.52152	0.37138867	0.58687	0.26345894	0.52151	-7.774	0.59520	D	0.4062981320398548	0.49734	0.095	0.35643	B	.;.	.;.	5.292843	0.88862	29.8	0.99940902169632528	0.99797	0.94136	0.60221	D	AEFDGBCI	0.919020	0.88892	D	0.801152745674139	0.86178	8.802866	0.770141600165602	0.87653	9.296797	0.9999999999982	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	5.29	5.29	0.74430	7.710000	0.83619	7.654000	0.63860	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	19.017	0.92876	0	0.99858	Oxoglutarate/iron-dependent dioxygenase|Oxoglutarate/iron-dependent dioxygenase|Prolyl 4-hydroxylase, alpha subunit;.	.	.	.	.	.	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	1406.98	33	chr3	49004926	.	G	A	1406.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=824;ExcessHet=0.0000;FS=0.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=-2.620e-01;SOR=0.829	GT:AD:DP:GQ:PL	0/1:66,56:122:99:1421,0,1657	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	0/2:61,0,60:121:99:2327,2511,5050,0,2539,2358	0	4	6	0
chr3	51993843	51993843	-	CCTTGG	exonic	RPL29	.	nonframeshift insertion	RPL29:NM_000992:exon4:c.385_386insCCAAGG:p.K130_D131insAK,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	9890.36	23	chr3	51993837	.	TCCTTGG	TCCTTGGCCTTGG,T	9890.36	.	AC=10,8;AF=0.250,0.200;AN=40;BaseQRankSum=0.471;DP=604;ExcessHet=4.5531;FS=11.809;InbreedingCoeff=-0.2121;MLEAC=10,8;MLEAF=0.250,0.200;MQ=57.96;MQRankSum=0.00;QD=24.85;ReadPosRankSum=-3.600e-02;SOR=1.183	GT:AD:DP:GQ:PL	0/1:9,20,0:29:99:777,0,309,805,369,1173	5	0	8	1
chr3	52372236	52372236	A	G	exonic	DNAH1	.	nonsynonymous SNV	DNAH1:NM_015512:exon43:c.A6676G:p.I2226V,	.	.	416	1093	13	0	0	13	0.00591178	.	.	453247	not_provided|Spermatogenic_failure_18|Ciliary_dyskinesia,_primary,_37	MedGen:C3661900|MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576|MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.005	B	0.015	B	0.001	U	0.976	D	-0.765	N	2.33	T	-0.959	T	0.008	T	0.156	-0.728	0.882	1.88	0.213	1.351	5.862	0.017	.	0.0062	0.00199681	0.0059	0.0010	0.0014	0	0.0076	0.0079	0.0079	0.0059	0.0057632	891	154602	rs112505934	0.0071	0.0071	0.0071	0.0072	0.0079	0.0070	0.0070	0.0078	0.0077	0.0011	0.0024	0.0062	0	0.0063	0.0033	0.0079	0.0073	0.0058	0.0053	0.0053	0.0053	0.0053	0.0083	0.0050	0.0049	0.0077	0.0075	0.0012	0.0429	0.0027	0.0061	0.0002	0.0057	0	0.0083	0.0014	0.0046	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.000781	0.41888	U	0.000000	0.976029	0.39239	D	.	.	.	2.33	0.16492	T	0.15	0.05310	N	0.274	0.31027	-0.9585	0.39461	T	0.008	0.02842	T	10	0.011133552	0.00245	T	.	.	.	0.017	0.02790	.	.	0.132336055621	0.12781	0.28984887749406174	0.28897	0.10357624358	0.11719	0.292885124683	0.09345	T	.	.	.	-0.603439	0.00139	T	-0.63261	0.10218	T	3.5456228943076e-05	0.00000	T	0.820118	0.47860	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.01491	B	.	.	0.837653	0.12093	8.645	0.68054314344574773	0.08541	0.67016	0.33281	D	AEFDGBI	0.141527	0.26373	N	-0.847241378410047	0.12117	0.5887538	-0.647784528518466	0.18273	0.9754083	0.64026108865765	0.22047	0.706298	0.61202	0	0.709663	0.81188	0	0.578056	0.29568	0	0.59522	0.37078	0	.	.	4.36	1.88	0.24630	0.910000	0.28193	0.019000	0.13561	-0.113000	0.14837	0.997000	0.40164	0.000000	0.08366	0.834000	0.39329	0.7456:0.1671:0.0873:0.0	5.862	0.18004	72	0.96948	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1735.98	33	chr3	52372236	.	A	G	1735.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.942e+00;DP=819;ExcessHet=0.0000;FS=2.232;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=1.30;SOR=0.905	GT:AD:DP:GQ:PL	0/1:57,73:130:99:1750,0,1428	20	0	1	0
chr3	52375988	52375988	G	A	exonic	DNAH1	.	nonsynonymous SNV	DNAH1:NM_015512:exon46:c.G7193A:p.R2398H,	.	.	423	1093	6	0	0	6	0.00273723	.	.	452963	not_provided|Spermatogenic_failure_18|Ciliary_dyskinesia,_primary,_37	MedGen:C3661900|MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576|MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.317	B	0.014	B	0.546	N	1.000	N	0	N	1.88	T	-1.048	T	0.033	T	0.189	4.815	27.3	4.46	1.109	2.960	12.678	0.054	0.00610339067667	0.0029	0.000599042	0.0018	0.0005	0.0012	0.0001	0	0.0027	0	0.0015	0.0020181	312	154602	rs201299120	0.0039	0.0039	0.0040	0.0038	0.0047	0.0038	0.0038	0.0046	0.0045	0.0007	0.0015	0.0002	2.528e-05	0.0001	0.0019	0.0047	0.0043	0.0015	0.0024	0.0024	0.0025	0.0022	0.0036	0.0022	0.0021	0.0032	0.0031	0.0008	0.0429	0.0020	0	0.0004	0.0005	0	0.0036	0.0005	0.0006	0.098	0.30800	T	0.066	0.44501	T	.	.	.	.	.	.	0.546381	0.11482	N	0.730499	0.999922	0.19486	N	.	.	.	1.88	0.23884	T	-0.72	0.20358	N	0.368	0.40963	-1.0477	0.15045	T	0.033	0.14117	T	10	0.0056172013	0.00125	T	0.006103	0.15964	T	0.054	0.15330	.	.	0.235038932564	0.23097	0.31096875564354204	0.31009	0.15590108407	0.17597	0.444694519043	0.31219	T	.	.	.	-0.55727	0.00263	T	-0.571751	0.15290	T	0.0209391951873376	0.00795	T	0.577942	0.20808	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12276	B	.	.	4.509627	0.70607	25.5	0.99737461346258605	0.83264	0.58311	0.30608	D	AEFDGBHCI	0.205466	0.33182	N	-0.391399962707931	0.25773	1.401675	-0.223096695330567	0.30710	1.731484	0.999975435784979	0.50053	0.615465	0.37627	0	0.633656	0.55848	0	0.616487	0.41570	0	0.620976	0.48614	0	.	.	4.46	4.46	0.53567	3.008000	0.49231	5.725000	0.49491	-0.174000	0.10959	0.997000	0.40164	1.000000	0.68203	0.914000	0.44937	0.0:0.8335:0.1665:0.0	12.678	0.56274	72	0.96948	.	.	.	.	.	.	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	1093.98	34	chr3	52375988	.	G	A	1093.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.740e-01;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=-1.071e+00;SOR=0.668	GT:AD:DP:GQ:PL	0/1:53,47:100:99:1108,0,1325	20	0	1	0
chr3	52825968	52825968	G	A	exonic	ITIH4	.	nonsynonymous SNV	ITIH4:NM_001166449:exon6:c.C677T:p.P226L	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.956	P	0.545	P	0.268	N	1.000	N	2.195	M	-1.2	T	-0.564	T	0.398	T	0.222	2.210	13.35	2.12	0.125	1.541	4.850	0.201	0.0920307741713	.	.	8.249e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs750048478	8.209e-06	8.209e-06	2.723e-06	1.375e-05	0.0001	4.38e-06	3.46e-06	7.997e-05	6.236e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.011	0.64786	D	0.956	0.54666	P	0.545	0.49043	P	0.268173	0.15180	N	0.620056	1	0.08975	N	2.34	0.67151	M	-1.2	0.78537	T	-5.69	0.87300	D	0.155	0.18512	-0.5635	0.66270	T	0.398	0.75002	T	10	0.18412921	0.33772	T	0.092031	0.75816	D	0.201	0.48592	0.407	0.44066	0.795460141236	0.79356	0.37529849061475085	0.37443	0.291704677138	0.31578	0.225026205182	0.01620	T	0.778353	0.94126	D	-0.207065	0.19794	T	-0.332557	0.41183	T	0.302371437582827	0.25102	T	0.771723	0.40231	T	0.059889156	0.12225	0.11036187	0.26609	0.059889156	0.12224	0.11036187	0.26609	-7.404	0.56933	T	0.3568143283102216	0.45360	0.078	0.06942	B	.;.;.	.;.;.	2.711319	0.35441	19.90	0.98427161241463079	0.41354	0.12075	0.17044	N	AEFBI	0.408330	0.48005	N	-0.369999637312249	0.26543	1.449466	-0.497161894644444	0.22232	1.206534	0.999876937781125	0.44625	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.98	2.12	0.26372	1.444000	0.34679	3.409000	0.38177	-0.212000	0.08331	0.008000	0.17931	0.532000	0.25368	0.903000	0.43903	0.165:0.0:0.5296:0.3054	4.850	0.12895	91	0.96221	.;.;.	.	.	.	.	.	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	2225.98	42	chr3	52825968	.	G	A	2225.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.080e-01;DP=862;ExcessHet=0.0000;FS=2.927;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.55;ReadPosRankSum=-4.900e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/1:64,89:153:99:2240,0,1539	20	0	1	0
chr3	53876082	53876082	-	GGGG	splicing	ACTR8	NM_022899:exon7:c.779-2->CCCC	.	.	.	.	440	839	208	22	13	265	0.13057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	9.259e-05	0	0	0	0	0	0.0001811	28	154602	rs370490982	0.0002	0.0002	0.0002	0.0001	0.0056	0.0001	0.0001	0.0049	0.0047	0.0056	0.0003	0	0	0	0.0005	6.407e-06	0.0005	3.588e-05	0.0024	0.0025	0.0023	0.0024	0.0082	0.0022	0.0021	0.0075	0.0072	0.0082	0	0.0014	0	0	0	0	1.497e-05	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	9238.32	34	chr3	53876082	.	T	TG,TGGGG	9238.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=0.075;DP=1434;ExcessHet=0.9430;FS=1.872;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-6.550e-01;SOR=0.551	GT:AD:DP:GQ:PL	0/1:63,58,0:121:99:1309,0,2179,1500,2354,3854	13	1	6	0
chr3	58148262	58148262	G	A	exonic	FLNB	.	nonsynonymous SNV	FLNB:NM_001164319:exon34:c.G5713A:p.D1905N	Atelosteogenesis, type I, Autosomal dominant;Atelosteogenesis, type III, Autosomal dominant;Boomerang dysplasia, Autosomal dominant;Larsen syndrome, Autosomal dominant;Spondylocarpotarsal synostosis syndrome, Autosomal recessive	.	0	1500	22	0	0	22	0.00727995	.	.	709003	FLNB-Related_Spectrum_Disorders|not_provided|Connective_tissue_disorder	MedGen:CN239400|MedGen:C3661900|MONDO:MONDO:0003900,MedGen:C0009782	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.63	T	1.0	D	0.996	D	0.000	D	1.000	D	0.255	N	-1.78	D	-0.030	T	0.619	D	0.11	4.227	22.0	6.17	2.941	6.640	20.879	0.357	.	0.0005	0.00419329	0.0023	0	0.0010	0	0	0.0003	0.0044	0.0146	0.0020051	310	154602	rs146685642	0.0012	0.0012	0.0008	0.0016	0.0161	0.0011	0.0011	0.0154	0.0151	8.961e-05	0.0005	0.0002	0	0	0.0036	0.0002	0.0013	0.0161	0.0008	0.0008	0.0004	0.0011	0.0174	0.0006	0.0006	0.0144	0.0133	4.812e-05	0	0.0005	0.0006	0	0	0.0170	0.0002	0.0009	0.0174	0.336	0.12878	T	0.597	0.08161	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.695	0.17993	N	-2.07	0.85943	D	-0.43	0.14390	N	0.565	0.72031	-0.0302	0.81626	T	0.619	0.86572	D	10	0.009554356	0.00215	T	.	.	.	0.357	0.67782	.	.	0.93585064125	0.93518	0.5303850714494975	0.52962	0.889866329626	0.70182	0.816300868988	0.84461	D	0.253667	0.62422	T	-0.380302	0.03102	T	-0.30673	0.44009	T	0.0605530186102167	0.07255	T	0.948505	0.80194	D	0.14024082	0.32364	0.11657075	0.28140	0.13069642	0.30487	0.12091532	0.29176	-5.871	0.46811	T	0.2299922566662045	0.31115	0.237	0.47083	B	.;.;.;.;.	.;.;.;.;.	5.047950	0.84062	28.2	0.99882865391497977	0.95892	0.95362	0.64424	D	AEFDGBCI	0.846596	0.76347	D	0.353021634451226	0.58899	4.065119	0.502649411017683	0.68169	5.183078	0.999999999998955	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	6.17	6.17	0.99707	6.759000	0.74730	5.905000	0.50941	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	20.879	0.99870	499	0.76092	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1071.98	33	chr3	58148262	.	G	A	1071.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.62;DP=792;ExcessHet=0.0000;FS=0.782;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=-7.960e-01;SOR=0.804	GT:AD:DP:GQ:PL	0/1:53,40:93:99:1086,0,1259	20	0	1	0
chr3	58205503	58205503	G	T	exonic	DNASE1L3	.	nonsynonymous SNV	DNASE1L3:NM_004944:exon3:c.C288A:p.N96K,	Systemic lupus erythematosus 16, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	1154541	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.54	T	0.002	B	0.011	B	0.000	N	0.960	N	0.47	N	0.34	T	-1.074	T	0.020	T	0.174	-0.590	1.356	-3.87	-0.693	-1.185	0.796	0.062	.	0.0024	0.0119808	0.0101	0.0018	0.0585	0.0354	0.0086	0.0023	0.0088	0.0007	0.0096506	1492	154602	rs12491947	0.0060	0.0060	0.0063	0.0057	0.0575	0.0059	0.0059	0.0556	0.0548	0.0013	0.0575	0.0042	0.0411	0.0104	0.0007	0.0031	0.0051	0.0012	0.0076	0.0076	0.0067	0.0084	0.0391	0.0072	0.0070	0.0365	0.0355	0.0015	0	0.0391	0.0029	0.0349	0.0091	0	0.0027	0.0066	0.0008	0.537	0.06869	T	0.747	0.04860	T	0.002	0.09854	B	0.005	0.11217	B	0.000213	0.47681	N	0.145914	0.999978	0.26170	N	0.94	0.23649	L	0.34	0.58176	T	0.03	0.14978	N	0.168	0.17828	-1.0740	0.08556	T	0.020	0.08360	T	10	0.0027559996	0.00043	T	.	.	.	0.062	0.17934	0.223	0.14665	.	.	0.325017992545078	0.32414	.	.	0.481785386801	0.36303	T	0.071187	0.34145	T	-0.561672	0.00248	T	-0.536322	0.18660	T	0.00174475068495326	0.00018	T	0.652235	0.35940	T	0.11605507	0.27379	0.05162217	0.08343	0.11605507	0.27378	0.05162217	0.08342	-4.602	0.32197	T	.	.	0.159	0.38516	B	.;.;.;.	.;.;.;.	0.028219	0.04481	1.194	0.42946432029465342	0.03200	0.03058	0.07960	N	AEFBI	0.303523	0.41148	N	-1.26091983491909	0.04157	0.1870961	-1.24250464811608	0.05243	0.2493488	0.999807457215722	0.43304	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.77	-3.87	0.03939	-1.369000	0.02684	-0.109000	0.11851	-0.157000	0.11712	0.000000	0.06391	0.102000	0.22686	0.954000	0.50415	0.3063:0.1501:0.3204:0.2232	0.796	0.00999	598	0.68232	Endonuclease/exonuclease/phosphatase;Endonuclease/exonuclease/phosphatase;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1188.98	33	chr3	58205503	.	G	T	1188.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.365;DP=797;ExcessHet=0.0000;FS=0.742;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=0.807;SOR=0.776	GT:AD:DP:GQ:PL	0/1:50,48:98:99:1203,0,1232	20	0	1	0
chr3	58410115	58410115	A	T	exonic	PXK	.	nonsynonymous SNV	PXK:NM_001289101:exon13:c.A1010T:p.N337I	.	.	425	1006	84	7	0	98	0.0464455	.	.	698265	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.19	T	0.873	P	0.522	P	0.091	N	0.981	N	-0.895	N	2.97	T	-1.130	T	0.037	T	0.366	2.231	13.42	4.77	2.268	3.383	3.751	0.062	.	0.0061	0.00938498	0.0100	0.0005	0.0051	0.0001	0.0005	0.0071	0.0166	0.0396	0.0090361	1397	154602	rs140203295	0.0070	0.0071	0.0058	0.0083	0.0404	0.0069	0.0069	0.0393	0.0388	0.0008	0.0048	0.0152	0.0001	0.0014	0.0397	0.0048	0.0090	0.0404	0.0052	0.0052	0.0049	0.0054	0.0402	0.0049	0.0048	0.0356	0.0338	0.0005	0	0.0062	0.0193	0.0004	0.0011	0.0408	0.0055	0.0061	0.0402	0.189	0.41915	T	0.329	0.48336	T	0.003	0.35474	B	0.002	0.41396	B	0.090595	0.20368	N	0.575787	0.980644	0.25097	N	0.805	0.20218	L	2.97	0.50976	T	-1.47	0.97995	N	0.393	0.47115	-1.1302	0.01772	T	0.037	0.15943	T	10	0.0034009814	0.00059	T	.	.	.	0.101	0.28911	.	.	0.525991642533	0.52246	0.22060369571048527	0.21975	0.33564811506	0.35560	0.551083683968	0.46010	T	0.002897	0.40318	T	-0.432092	0.01440	T	-0.36417	0.37570	T	0.0238539316806345	0.01126	T	0.865113	0.57764	D	0.083946615	0.19406	0.05076319	0.08032	0.083946615	0.19406	0.05076319	0.08031	-3.109	0.11399	T	.	.	0.091	0.38906	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.187903	0.43297	21.7	0.9717033229360339	0.32673	0.91707	0.54093	D	AEFBI	0.308053	0.41475	N	-0.17860360165214	0.34027	1.937292	0.0645200009892415	0.42780	2.593573	0.999890105895091	0.45129	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.9	4.77	0.60425	3.456000	0.52764	5.312000	0.48266	0.741000	0.86335	0.998000	0.41325	1.000000	0.68203	0.995000	0.73285	0.7798:0.0:0.2202:0.0	3.751	0.08092	335	0.86220	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	1	0	0	0	0	0	0	0	0	0	0	0.04762	3228.11	33	chr3	58410115	.	A	T	3228.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.730e-01;DP=882;ExcessHet=0.1072;FS=0.526;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.45;ReadPosRankSum=0.031;SOR=0.767	GT:AD:DP:GQ:PL	0/1:47,67:114:99:1710,0,1139	19	0	2	0
chr3	63996449	63996449	C	G	exonic	ATXN7	.	nonsynonymous SNV	ATXN7:NM_001128149:exon8:c.C2192G:p.A731G	Spinocerebellar ataxia 7, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.493	P	0.099	B	0.000	D	0.705	N	0.69	N	0.7	T	-0.945	T	0.093	T	0.274	3.278	17.01	5.07	2.538	5.863	18.880	0.059	0.0125506405596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.44029	D	0.024	0.56640	D	0.361	0.37004	B	0.046	0.30579	B	0.000494	0.43931	D	0.224169	0.704527	0.30072	N	1.79	0.46772	L	0.7	0.51474	T	-0.49	0.15578	N	0.28	0.32259	-0.9448	0.41846	T	0.093	0.35444	T	10	0.18656996	0.34127	T	0.012551	0.31222	T	0.059	0.16972	0.169	0.07419	0.324009150485	0.32011	0.10323457362522455	0.10253	.	.	0.283824563026	0.08031	T	0.135804	0.46782	T	-0.103711	0.35810	T	-0.38675	0.34931	T	0.861159384250641	0.51157	D	0.878312	0.59406	D	0.11083249	0.26195	0.11735197	0.28330	0.11083249	0.26194	0.11735197	0.28329	-3.024	0.10920	T	.	.	0.099	0.16670	B	.;.;.;.;.;.	.;.;.;.;.;.	3.463952	0.48298	22.6	0.99623958462412243	0.75594	0.96200	0.67994	D	AEFDBCI	0.670511	0.63757	D	0.112365521362108	0.47040	2.935283	0.280205254097463	0.54384	3.603623	0.999999921202619	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.07	5.07	0.68106	5.923000	0.69769	6.009000	0.52614	0.599000	0.40250	1.000000	0.71638	0.901000	0.27973	0.998000	0.85391	0.0:1.0:0.0:0.0	18.880	0.92321	491	0.76657	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	1863.98	36	chr3	63996449	.	C	G	1863.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.964e+00;DP=1088;ExcessHet=0.0000;FS=6.627;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.68;ReadPosRankSum=1.24;SOR=1.089	GT:AD:DP:GQ:PL	0/1:58,69:127:99:1878,0,1658	20	0	1	0
chr3	64541599	64541599	T	C	exonic	ADAMTS9	.	nonsynonymous SNV	ADAMTS9:NM_001318781:exon33:c.A5135G:p.K1712R	.	.	429	1075	18	0	0	18	0.00830258	.	.	1241570	not_provided|ADAMTS9-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.11	T	0.006	B	0.03	B	0.004	N	1.000	D	0.56	N	2.25	T	-1.132	T	0.010	T	0.143	0.705	7.761	3.39	0.459	1.366	5.296	0.024	.	0.0013	0.0313498	0.0204	0.0017	0.1036	0.0776	0.0030	0.0012	0.0166	0.0288	0.0194176	3002	154602	rs17070967	0.0078	0.0078	0.0075	0.0081	0.0914	0.0077	0.0077	0.0891	0.0881	0.0014	0.0914	0.0027	0.0835	0.0031	0.0026	0.0006	0.0088	0.0295	0.0099	0.0099	0.0082	0.0117	0.0773	0.0095	0.0093	0.0710	0.0686	0.0025	0	0.0452	0.0038	0.0773	0.0050	0	0.0007	0.0132	0.0361	0.242	0.17940	T	0.323	0.19421	T	0.006	0.13644	B	0.02	0.19048	B	0.004360	0.33837	N	0.318094	0.973815	0.25526	N	1.18	0.29980	L	2.25	0.17761	T	-1.38	0.34198	N	0.068	0.04072	-1.1322	0.01680	T	0.010	0.03492	T	10	0.0030217767	0.00049	T	.	.	.	0.024	0.04979	.	.	.	.	0.28727381798873325	0.28640	0.156171107073	0.17626	0.254748165607	0.04284	T	0.06255	0.31945	T	-0.641738	0.00081	T	-0.62163	0.11057	T	0.00306043882368561	0.00032	T	0.670533	0.27914	T	0.057323724	0.11395	0.073475905	0.15969	0.057323724	0.11395	0.073475905	0.15969	-3.694	0.19230	T	.	.	0.067	0.02578	B	.;.	.;.	1.426334	0.18436	13.74	0.98213520132379695	0.39237	0.68520	0.33833	D	AEFBI	0.242300	0.36377	N	-0.188898386300638	0.33596	1.907781	-0.143802682917285	0.33648	1.926929	0.0174788354325308	0.12955	0.562547	0.31514	0	0.59043	0.45803	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.75	3.39	0.37919	1.178000	0.31590	2.307000	0.32053	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.384000	0.26424	0.13:0.139:0.0:0.731	5.296	0.15062	839	0.37672	Peptidase M12B, GON-ADAMTSs|Peptidase M12B, GON-ADAMTSs;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1822.11	67	chr3	64541599	.	T	C	1822.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.016e+00;DP=1456;ExcessHet=0.1072;FS=2.654;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=0.391;SOR=0.511	GT:AD:DP:GQ:PL	0/1:54,26:80:99:582,0,1547	19	0	2	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|1:103,52:155:99:0|1:75730450_C_T:1822,0,4117:75730450	0	0	20	1
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F	.	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.024	B	0.002	B	.	.	1.000	N	0	N	3.37	T	-0.932	T	0.010	T	0.477	1.695	11.63	-0.734	-0.244	-0.140	5.509	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	30918.43	158	chr3	75736891	.	G	A	30918.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.300e-01;DP=3330;ExcessHet=43.6797;FS=1.234;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=57.04;MQRankSum=-9.187e+00;QD=9.77;ReadPosRankSum=0.205;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:105,25:130:99:.:.:688,0,3353	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	0/1:118,26:144:99:.:.:730,0,4807	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|1:117,27:144:99:0|1:75736928_C_T:775,0,4820:75736928	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	0/1:126,20:146:99:176,0,3776	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	0/1:116,26:142:99:305,0,3643	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	0/1:122,34:156:99:542,0,3889	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|1:122,62:184:99:0|1:75737092_C_T:2188,0,4932:75737092	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|1:125,62:187:99:0|1:75737092_C_T:2179,0,5058:75737092	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|1:121,60:181:99:0|1:75737092_C_T:2155,0,4900:75737092	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|1:121,49:170:99:0|1:75737092_C_T:1693,0,4933:75737092	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|1:117,39:156:99:0|1:75737092_C_T:1285,0,4746:75737092	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	0/1:100,9:109:32:.:.:32,0,4139	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	0/1:84,78:162:99:.:.:2841,0,3235	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|1:124,99:223:99:0|1:75737590_A_G:3715,0,4902:75737590	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|1:130,108:238:99:0|1:75737590_A_G:4144,0,5134:75737590	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|1:135,110:245:99:0|1:75737590_A_G:4213,0,5338:75737590	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|1:138,108:246:99:0|1:75737590_A_G:4119,0,5469:75737590	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|1:130,101:231:99:0|1:75737590_A_G:3850,0,5155:75737590	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|1:139,72:211:99:0|1:75737814_C_T:2544,0,5358:75737814	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|1:145,42:187:99:0|1:75737881_T_C:1142,0,5840:75737881	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|1:150,31:181:99:0|1:75737881_T_C:805,0,6175:75737881	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|1:151,27:178:99:0|1:75737881_T_C:669,0,6217:75737881	0	0	21	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	0/1:112,13:125:15:15,0,3351	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	0/1:61,23:84:99:417,0,1677	0	0	21	0
chr3	77644824	77644824	G	A	exonic	ROBO2	.	nonsynonymous SNV	ROBO2:NM_002942:exon25:c.G4055A:p.G1352D	Vesicoureteral reflux 2	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.032	B	0.022	B	0.258	N	0.977	N	0.345	N	0.08	T	-0.862	T	0.128	T	0.491	1.268	10.14	3.96	1.477	3.610	11.074	0.142	0.0221585222715	.	0.000199681	0.0001	0	0	0	0	0	0	0.0010	0.00011	17	154602	rs572241591	7.183e-05	7.182e-05	2.859e-05	0.0001	0.0012	6.047e-05	5.595e-05	0.0010	0.0009	0	0	0	0	0	0	0	3.311e-05	0.0012	1.971e-05	1.969e-05	1.285e-05	2.686e-05	0.0006	5.24e-06	2.45e-06	0.0002	9e-05	0	0	0	0	0	0	0	0	0	0.0006	0.217	0.19157	T	0.291	0.20944	T	0.019	0.20242	B	0.01	0.19653	B	0.257835	0.15376	N	0.574388	.	.	.	0.69	0.16971	N	0.04	0.62051	T	-0.4	0.13805	N	0.55	0.57604	-0.8616	0.51147	T	0.128	0.43605	T	9	0.026407957	0.00808	T	0.022159	0.45019	T	0.142	0.37995	0.254	0.19378	0.634610383517	0.63161	0.1199702226167593	0.11924	0.906306764254	0.70861	0.367698311806	0.20500	T	0.07521	0.35123	T	-0.329118	0.06178	T	-0.291083	0.45659	T	0.0761246468019623	0.09484	T	0.919908	0.71037	D	0.07709696	0.17478	0.087880485	0.20454	0.07709696	0.17478	0.087880485	0.20453	-6.877	0.53129	T	.	.	0.391	0.59171	A	.;.;.;.	.;.;.;.	3.321073	0.45673	22.2	0.98292896658502682	0.39964	0.87374	0.46894	D	AEFI	0.244250	0.36539	N	-0.346994630172498	0.27382	1.501914	-0.192624434260049	0.31806	1.803503	2.96866884556585E-4	0.06406	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.85	3.96	0.45097	3.643000	0.54109	4.948000	0.46261	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.130000	0.19568	0.0692:0.1295:0.8013:0.0	11.074	0.47240	587	0.69154	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	33	chr3	77644824	.	G	A	2544.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.120e-01;DP=878;ExcessHet=0.0000;FS=0.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.46;ReadPosRankSum=1.48;SOR=0.764	GT:AD:DP:GQ:PL	0/1:73,103:176:99:2559,0,1704	20	0	1	0
chr3	97873496	97873496	C	T	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.C2302T:p.L768F,	.	.	437	1082	3	0	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.98	D	0.868	P	.	.	.	.	0	N	.	.	-0.923	T	0.090	T	0.102	3.408	17.51	-0.227	0.101	-0.852	7.162	0.085	.	.	0.000399361	0.0025	0	0.0110	0	0	0	0.0303	0.0032	0.0002135	33	154602	rs530439999	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0032	0.0031	0	0	0	0	0	0.0002	3.801e-05	0.0002	0.0035	9.849e-05	9.843e-05	8.994e-05	0.0001	0.0021	6.002e-05	4.876e-05	0.0011	0.0009	0	0	0	0	0	0	0	7.35e-05	0	0.0021	.	.	.	0.045	0.49390	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.07535	-0.9226	0.45196	T	0.090	0.34573	T	7	0.0031359792	0.00052	T	.	.	.	.	.	0.086	0.00867	0.396494342077	0.39262	0.029264508604183646	0.02875	.	.	0.252706408501	0.04058	T	0.005386	0.04831	T	-0.602205	0.00141	T	-0.639275	0.09721	T	0.0415745136270678	0.03976	T	0.383762	0.09387	T	0.035481438	0.04184	0.05835297	0.10769	0.035481438	0.04184	0.05835297	0.10769	-4.39	0.29421	T	.	.	0.116	0.23535	B	.	.	1.010879	0.13896	10.46	0.99822679519019375	0.90502	0.02458	0.06908	N	AEFBI	0.047416	0.07982	N	-0.455476399467726	0.23554	1.265745	-0.604193542525911	0.19385	1.039807	0.999373362842815	0.39355	0.615465	0.37627	0	0.588015	0.36545	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.25	-0.227	0.12456	-0.563000	0.06034	-0.761000	0.07536	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.920000	0.45560	0.569:0.347:0.0:0.0839	7.162	0.24843	797	0.45241	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2208.98	34	chr3	97873496	.	C	T	2208.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.290e-01;DP=1302;ExcessHet=0.0000;FS=1.260;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=1.34;SOR=0.573	GT:AD:DP:GQ:PL	0/1:77,83:160:99:2223,0,2269	20	0	1	0
chr3	97943228	97943228	G	C	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon22:c.G8827C:p.G2943R,	.	.	421	1091	8	2	0	12	0.00546946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	1.855	L	0.74	T	-0.557	T	0.301	T	0.949	4.628	25.3	6.05	2.866	5.836	20.609	0.414	0.0133127964576	0.0008	0.000798722	0.0016	0	0.0040	0	0.0002	0.0013	0.0011	0.0035	0.0013842	214	154602	rs200227709	0.0009	0.0009	0.0008	0.0011	0.0041	0.0009	0.0009	0.0038	0.0036	0.0003	0.0030	0.0015	0	0.0002	0.0041	0.0006	0.0016	0.0041	0.0008	0.0008	0.0008	0.0008	0.0029	0.0007	0.0006	0.0018	0.0014	7.225e-05	0	0.0021	0.0014	0	9.42e-05	0	0.0009	0.0010	0.0029	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000002	0.62929	D	0.000000	0.999994	0.58761	D	.	.	.	.	.	.	.	.	.	0.529	0.55799	-0.5573	0.66507	T	0.301	0.67176	T	10	0.008728862	0.00198	T	0.013313	0.32613	T	0.414	0.72479	.	.	0.498323335527	0.49468	0.7809699892528092	0.78047	.	.	0.621887564659	0.55996	T	0.099996	0.40535	T	0.108382	0.65183	D	0.380486	0.91445	D	0.0675549314376714	0.08304	T	0.889511	0.62170	D	0.3247882	0.55041	0.50215834	0.71221	0.3247882	0.55041	0.50215834	0.71222	-9.378	0.70097	D	.	.	0.584	0.68218	P	.	.	4.639010	0.73833	26.1	0.99930496646971168	0.99334	0.98205	0.80520	D	AEFBIJ	0.790918	0.71966	D	0.817446058385006	0.87186	9.131236	0.826914054235287	0.91597	10.969	0.99999990056684	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.05	6.05	0.98156	5.971000	0.70140	9.846000	0.81956	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.609	0.99471	803	0.44167	Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	797.98	34	chr3	97943228	.	G	C	797.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=777;ExcessHet=0.0000;FS=1.913;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=-5.320e-01;SOR=0.930	GT:AD:DP:GQ:PL	0/1:40,33:73:99:812,0,945	20	0	1	0
chr3	98025619	98025619	C	G	exonic	GABRR3	.	nonsynonymous SNV	GABRR3:NM_001105580:exon3:c.G186C:p.E62D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0011	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	0.0003	0	7.677e-05	2.526e-05	1.873e-05	0.0002	0.0004	0.0003	4.662e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.37173	T	0.029	0.19866	B	0.098	0.30479	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.22357	.	.	.	.	.	.	.	0.10471362	0.19318	T	.	.	.	.	.	.	.	0.352476196916	0.34857	0.40720103366486365	0.40636	.	.	.	.	.	0.006922	0.06344	T	-0.218202	0.18239	T	-0.551208	0.17211	T	.	.	.	0.407359	0.10471	T	0.03210559	0.03173	0.050597325	0.07975	0.03210559	0.03173	0.050597325	0.07974	-3.351	0.14404	T	.	.	0.132	0.28435	B	.;.	.;.	0.811300	0.11821	8.392	0.99029985120482455	0.50786	0.65308	0.32694	D	AEFBHCI	0.127138	0.24438	N	.	.	.	.	.	.	0.114311401285484	0.16729	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.85	-0.445	0.11631	-0.039000	0.12076	.	.	0.597000	0.34315	0.594000	0.27698	0.000000	0.08366	0.053000	0.15439	0.145:0.4054:0.0:0.4496	5.182	0.14491	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	0.1	155.59	57	chr3	98025619	.	C	G,T	155.59	.	AC=1,3;AF=0.025,0.075;AN=40;BaseQRankSum=-3.105e+00;DP=1411;ExcessHet=0.6776;FS=340.609;InbreedingCoeff=-0.1204;MLEAC=1,3;MLEAF=0.025,0.075;MQ=60.00;MQRankSum=0.00;QD=0.34;ReadPosRankSum=0.606;SOR=10.823	GT:AD:DP:GQ:PL	0/2:82,14,33:129:62:62,194,1917,0,1660,1670	16	0	1	1
chr3	100748376	100748376	G	A	exonic	TFG	.	nonsynonymous SNV	TFG:NM_001007565:exon8:c.G1048A:p.A350T	Hereditary motor and sensory neuropathy, Okinawa type, Autosomal dominant	.	8	1511	3	0	0	3	0.000991736	.	.	691249	not_provided|Inborn_genetic_diseases|Hereditary_motor_and_sensory_neuropathy,_Okinawa_type|Hereditary_spastic_paraplegia_57	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011468,MedGen:C1858338,OMIM:604484,Orphanet:90117|MONDO:MONDO:0014295,MedGen:C3714897,OMIM:615658,Orphanet:431329	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.48	T	0.0	B	0.001	B	0.000	D	1.000	D	0.805	L	0.85	T	-0.847	T	0.188	T	0.29	3.716	18.87	5.29	1.623	6.556	15.427	0.055	0.0127778480349	.	0.000399361	0.0003	0	0	0	0	7.497e-05	0	0.0020	0.0002587	40	154602	rs543542721	0.0001	0.0001	6.806e-05	0.0002	0.0019	0.0001	0.0001	0.0016	0.0015	0	0	0	0	0	0.0007	1.169e-05	9.935e-05	0.0019	6.567e-05	6.562e-05	2.57e-05	0.0001	0.0015	3.515e-05	2.615e-05	0.0007	0.0005	0	0	0	0	0	0	0	4.41e-05	0	0.0015	0.0	0.91255	D	0.72	0.05345	T	0.0	0.02946	B	0.001	0.04355	B	0.000012	0.62929	D	0.065325	0.999613	0.47849	D	1.935	0.51832	L	0.85	0.47130	T	-0.4	0.13805	N	0.431	0.47487	-0.8467	0.52195	T	0.188	0.53797	T	10	0.017051578	0.00362	T	0.012778	0.31649	T	0.055	0.15663	0.315	0.29096	0.334885890373	0.33091	0.20848579130829042	0.20764	0.690270448302	0.60526	0.589789450169	0.51464	T	0.190193	0.54466	T	-0.425883	0.01570	T	-0.397758	0.33646	T	0.220616810834853	0.21495	T	0.89741	0.64114	D	0.23484482	0.46312	0.31253764	0.57255	0.23484482	0.46312	0.31253764	0.57254	-4.125	0.25658	T	.	.	0.084	0.12891	B	.;.;.;.	.;.;.;.	4.439718	0.68917	25.3	0.99881993893635046	0.95813	0.97714	0.76605	D	ALL	0.901678	0.84866	D	0.29710327685263	0.56003	3.764366	0.417503456572557	0.62654	4.484587	0.999999999993556	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.16	5.29	0.74430	6.645000	0.74198	6.695000	0.56353	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0669:0.0:0.9331:0.0	15.427	0.74780	720	0.55521	.;.;.;.	.	.	.	.	.	Uncertain significance	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	2180.98	42	chr3	100748376	.	G	A	2180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.391e+00;DP=1022;ExcessHet=0.0000;FS=0.533;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=-5.840e-01;SOR=0.761	GT:AD:DP:GQ:PL	0/1:104,91:195:99:2195,0,2665	20	0	1	0
chr3	100804848	100804848	C	G	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_001349332:exon20:c.G1670C:p.R557P	.	.	429	1073	19	1	0	21	0.00969082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.357	B	0.069	B	0.634	N	1.000	N	1.195	L	2.11	T	-0.999	T	0.070	T	0.475	1.844	12.13	-8.04	-1.459	-3.011	5.204	0.017	0.0369188699801	0.0008	0.000998403	0.0016	0.0001	0.0010	0	0.0002	0.0015	0.0034	0.0046	0.0013971	216	154602	rs146922324	0.0010	0.0010	0.0008	0.0011	0.0132	0.0009	0.0009	0.0108	0.0099	0.0005	0.0013	3.832e-05	0	0.0003	0.0132	0.0007	0.0012	0.0049	0.0009	0.0009	0.0008	0.0009	0.0046	0.0008	0.0007	0.0031	0.0026	0.0002	0	0.0010	0	0	0.0003	0.0068	0.0011	0.0038	0.0046	0.202	0.49117	T	0.328	0.20164	T	0.357	0.33788	B	0.069	0.27757	B	0.634394	0.05831	N	1.178940	1	0.08975	N	1.355	0.33814	L	2.11	0.58029	T	-1.68	0.40660	N	0.234	0.26354	-0.9994	0.30087	T	0.070	0.28412	T	10	0.003825426	0.00072	T	0.036919	0.57292	D	0.078	0.22779	.	.	0.606186980318	0.60303	0.1905760927735863	0.18975	0.584409154258	0.54121	0.229979485273	0.01966	T	0.024289	0.24842	T	-0.424106	0.01611	T	-0.381572	0.35538	T	0.0220031427266838	0.00909	T	0.725927	0.37153	T	0.19192603	0.40841	0.14755212	0.34913	0.19192603	0.40840	0.14755212	0.34912	.	.	.	.	.	0.162	0.39815	B	.;.;.;.	.;.;.;.	-0.830515	0.01048	0.045	0.98365049274544203	0.40689	0.01349	0.04629	N	AEFBI	0.251608	0.37144	N	-0.937752083884039	0.09970	0.4742376	-1.14110565828453	0.06929	0.3352134	0.999988366678365	0.51787	0.693126	0.56070	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.18	-8.04	0.00980	-4.111000	0.00332	-20.000000	0.00162	0.490000	0.22344	0.000000	0.06391	0.000000	0.08366	0.951000	0.49849	0.0973:0.2461:0.0962:0.5605	5.204	0.14606	725	0.54935	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2894.11	33	chr3	100804848	.	C	G	2894.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.62;DP=889;ExcessHet=0.1072;FS=1.073;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=1.00;SOR=0.804	GT:AD:DP:GQ:PL	0/1:48,58:106:99:1439,0,1070	19	0	2	0
chr3	105534801	105534801	G	A	exonic	ALCAM	.	nonsynonymous SNV	ALCAM:NM_001243280:exon6:c.G686A:p.G229D	.	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	1.0	D	0.000	D	1.000	D	2.445	M	-1.05	T	-0.146	T	0.343	T	0.745	2.418	14.04	5.33	2.654	6.690	19.399	0.545	0.0669838561962	0.0002	0.00199681	0.0010	0	0.0004	0.0079	0	0.0004	0.0022	0.0008	0.0008344	129	154602	rs10933819	0.0004	0.0004	0.0003	0.0004	0.0053	0.0003	0.0003	0.0047	0.0045	2.991e-05	2.238e-05	0.0020	0.0053	0	0.0003	0.0001	0.0007	0.0009	0.0005	0.0005	0.0005	0.0005	0.0081	0.0004	0.0003	0.0062	0.0055	2.41e-05	0	6.55e-05	0.0029	0.0081	0	0	0.0001	0	0.0017	0.132	0.26519	T	0.063	0.92824	T	1.0	0.90584	D	1.0	0.97372	D	0.000017	0.62929	D	0.156402	0.999995	0.58761	D	1.22	0.30592	L	-1.05	0.76690	T	-3.01	0.62518	D	0.728	0.72925	-0.1461	0.79013	T	0.343	0.70851	T	10	0.010920405	0.00241	T	0.066984	0.70034	D	0.545	0.81077	.	.	0.65520304329	0.65232	0.6153759300991104	0.61469	0.388407156696	0.40106	0.645785570145	0.59386	T	0.637296	0.88833	D	-0.14333	0.29361	T	0.0253452	0.71977	D	0.074053635919553	0.09209	T	0.937406	0.76468	D	0.5644746	0.70757	0.6662655	0.80430	0.5644746	0.70758	0.6662655	0.80431	-6.515	0.50402	T	.	.	0.293	0.52393	B	.;.;.	.;.;.	4.191632	0.63182	24.5	0.98706876660425658	0.44996	0.97708	0.76563	D	AEFBI	0.801402	0.72711	D	0.522094873493282	0.68399	5.211732	0.566680457528046	0.72565	5.83001	0.999999999995365	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.33	5.33	0.75683	6.801000	0.74958	11.706000	0.94575	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.399	0.94612	658	0.62094	CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain;.;CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1327.98	33	chr3	105534801	.	G	A	1327.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.570e-01;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=-1.257e+00;SOR=0.631	GT:AD:DP:GQ:PL	0/1:44,57:101:99:1342,0,1005	20	0	1	0
chr3	113583465	113583465	T	G	exonic	SIDT1	.	nonsynonymous SNV	SIDT1:NM_001322296:exon5:c.T618G:p.D206E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	1.0	D	0.996	D	0.001	N	0.995	D	2.125	M	1.51	T	-0.995	T	0.143	T	0.446	4.248	22.1	1.5	0.327	0.773	6.942	0.205	0.0174503919386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.048	0.48594	D	1.0	0.90584	D	0.996	0.84481	D	0.001169	0.39978	N	0.174005	0.995291	0.42627	D	2.42	0.70002	M	1.51	0.30937	T	-3.1	0.63554	D	0.924	0.92784	-0.9948	0.31352	T	0.143	0.46569	T	10	0.7736213	0.77281	D	0.01745	0.39153	T	0.205	0.49236	0.521	0.62368	0.151104730317	0.14643	0.6121225369781883	0.61144	0.450685129791	0.44834	0.712487697601	0.68954	T	0.176288	0.52617	T	-0.0778141	0.40069	T	-0.349551	0.39258	T	0.934751121189009	0.60246	D	0.938506	0.76886	D	0.25029525	0.48031	0.30774605	0.56795	0.25029525	0.48031	0.30774605	0.56794	-11.287	0.81272	D	.	.	0.834	0.87006	P	.;.	.;.	3.390697	0.46947	22.4	0.99603074271032366	0.74338	0.76681	0.37627	D	AEDBI	0.260456	0.37860	N	0.313467017532917	0.56838	3.849398	0.236352403868768	0.51876	3.366551	0.00764801129954174	0.11513	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.41	1.5	0.22029	0.952000	0.28747	-0.145000	0.11477	0.609000	0.47794	1.000000	0.71638	0.754000	0.26572	0.999000	0.91618	0.0:0.1379:0.1245:0.7376	6.942	0.23675	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	911.98	34	chr3	113583465	.	T	G	911.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.518e+00;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=0.772;SOR=0.636	GT:AD:DP:GQ:PL	0/1:29,36:65:99:926,0,825	20	0	1	0
chr3	113657270	113657272	TGC	-	exonic	USF3	.	nonframeshift deletion	USF3:NM_001009899:exon7:c.4410_4412del:p.Q1478del,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/1:0,65,0,0,0,0:65:99:2805,196,0,2805,196,2805,2805,196,2805,2805,2805,196,2805,2805,2805,2805,196,2805,2805,2805,2805	0	4	0	0
chr3	113657267	113657272	TGCTGC	-	exonic	USF3	.	nonframeshift deletion	USF3:NM_001009899:exon7:c.4410_4415del:p.Q1477_Q1478del,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/1:0,65,0,0,0,0:65:99:2805,196,0,2805,196,2805,2805,196,2805,2805,2805,196,2805,2805,2805,2805,196,2805,2805,2805,2805	0	4	0	0
chr3	113657272	113657272	-	TGC	exonic	USF3	.	nonframeshift insertion	USF3:NM_001009899:exon7:c.4409_4410insGCA:p.Q1478_A1479insQ,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/1:0,65,0,0,0,0:65:99:2805,196,0,2805,196,2805,2805,196,2805,2805,2805,196,2805,2805,2805,2805,196,2805,2805,2805,2805	0	4	0	0
chr3	113657272	113657272	-	TGCTGC	exonic	USF3	.	nonframeshift insertion	USF3:NM_001009899:exon7:c.4409_4410insGCAGCA:p.Q1478_A1479insQQ,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/1:0,65,0,0,0,0:65:99:2805,196,0,2805,196,2805,2805,196,2805,2805,2805,196,2805,2805,2805,2805,196,2805,2805,2805,2805	0	4	0	0
chr3	113938115	113938115	G	A	exonic	GRAMD1C	.	nonsynonymous SNV	GRAMD1C:NM_001172105:exon10:c.G1048A:p.V350I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.0	B	0.0	B	0.580	N	1.000	N	0	N	1.62	T	-1.053	T	0.014	T	0.162	0.171	4.920	0.525	-0.389	0.573	8.248	0.020	.	0.0069	0.00998403	0.0032	0.0281	0.0029	0	0	0.0003	0.0014	0	0.0023803	368	154602	rs79673945	0.0008	0.0008	0.0008	0.0007	0.0247	0.0007	0.0007	0.0233	0.0227	0.0247	0.0016	0	7.85e-05	0	0.0020	0.0001	0.0014	0	0.0072	0.0072	0.0074	0.0070	0.0247	0.0069	0.0067	0.0234	0.0229	0.0247	0	0.0024	0	0	0	0.0068	0.0004	0.0047	0	0.445	0.09128	T	0.691	0.10317	T	0.0	0.02946	B	0.0	0.01387	B	0.579589	0.11157	N	0.817937	1	0.08975	N	.	.	.	1.62	0.41392	T	-0.3	0.12472	N	0.06	0.05162	-1.0530	0.13574	T	0.014	0.05369	T	10	0.0031518936	0.00053	T	.	.	.	0.020	0.03691	.	.	0.0482279557977	0.04254	0.1562697881158341	0.15547	0.116920679442	0.13183	0.265746593475	0.05595	T	0.00497	0.04396	T	-0.603574	0.00139	T	-0.619496	0.11224	T	0.00173120074654155	0.00018	T	0.192681	0.02066	T	0.020510666	0.00613	0.024119506	0.00428	0.020510666	0.00612	0.024119506	0.00428	-3.421	0.15340	T	.	.	0.059	0.01011	B	.;.;.;.	.;.;.;.	-0.487300	0.01907	0.159	0.37059020758783928	0.02419	0.00209	0.01192	N	AEFDHCI	0.034610	0.04317	N	-1.75475410375871	0.00665	0.02870835	-1.69393635246143	0.01164	0.05238694	0.00451636425624444	0.10595	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.72	0.525	0.16266	0.784000	0.26477	1.202000	0.24844	-1.290000	0.01256	0.001000	0.13787	0.000000	0.08366	0.010000	0.09038	0.7792:0.0:0.1157:0.1051	8.248	0.30862	605	0.67457	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	760.98	36	chr3	113938115	.	G	A	760.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.416;DP=853;ExcessHet=0.0000;FS=3.974;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.01;ReadPosRankSum=0.363;SOR=0.481	GT:AD:DP:GQ:PL	0/1:58,37:95:99:775,0,1329	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	0/1:85,40:134:88:88,0,1351	3	0	14	4
chr3	125313457	125313457	C	T	exonic	ZNF148	.	nonsynonymous SNV	ZNF148:NM_001348426:exon3:c.G184A:p.E62K	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.888	P	0.355	B	0.000	D	1.000	D	0.55	N	3.06	T	-0.955	T	0.017	T	0.687	3.932	20.1	5.0	2.589	5.845	18.492	0.209	0.0111750144969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.91255	D	0.12	0.35970	T	0.888	0.48822	P	0.355	0.42984	B	0.000001	0.62929	D	0.055187	0.999981	0.81001	D	0.805	0.20218	L	3.06	0.08634	T	-0.71	0.74051	N	0.599	0.62696	-0.9554	0.40024	T	0.017	0.06950	T	10	0.35226458	0.52058	T	0.011175	0.28518	T	0.209	0.49871	0.395	0.42099	0.402048819238	0.39823	0.3936792549253413	0.39282	1.39432601691	0.85056	0.751922249794	0.74731	T	0.306134	0.67835	T	0.010738	0.53126	T	-0.222352	0.52509	T	0.877740383148193	0.52764	D	0.936606	0.77317	D	0.51327926	0.67871	0.24910183	0.50474	0.51327926	0.67872	0.24910183	0.50473	-5.387	0.40794	T	0.2834090095311207	0.37907	0.169	0.38836	B	.;.;.;.;.;.	.;.;.;.;.;.	4.501670	0.70410	25.5	0.99807925384421115	0.89174	0.96210	0.68040	D	AEFDGBHIJ	0.730719	0.67802	D	0.204064381631029	0.51396	3.321177	0.322315676778341	0.56853	3.849418	0.999999999979493	0.74766	0.741895	0.98168	0	0.724815	0.89359	0	0.724815	0.87919	0	0.725737	0.93299	0	.	.	5.0	5.0	0.66209	6.121000	0.71321	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.492	0.90802	727	0.54702	.;.;.;.;.;.	.	.	.	.	.	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	2221.98	33	chr3	125313457	.	C	T	2221.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.000e+00;DP=879;ExcessHet=0.0000;FS=5.989;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=0.254;SOR=1.095	GT:AD:DP:GQ:PL	0/1:104,92:196:99:2236,0,2640	20	0	1	0
chr3	126988613	126988613	G	T	exonic	PLXNA1	.	nonsynonymous SNV	PLXNA1:NM_032242:exon1:c.G20T:p.S7I,	.	.	405	1105	12	0	0	12	0.00540054	.	.	697806	not_provided|PLXNA1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	0.624	U	1.000	D	0	N	2.94	T	-1.001	T	0.018	T	0.342	-0.574	1.415	1.28	0.741	2.066	4.339	0.074	0.0306953465408	0.0003	0.000599042	0.0012	0.0004	0	0	0	0.0007	0	0.0084	0.0004916	76	154602	rs375859367	0.0004	0.0004	0.0003	0.0005	0.0058	0.0003	0.0003	0.0043	0.0037	6.232e-05	5.311e-05	0.0037	5.196e-05	0	0.0058	0.0001	0.0007	0.0030	0.0003	0.0003	0.0002	0.0004	0.0035	0.0002	0.0002	0.0022	0.0018	2.405e-05	0	0.0001	0.0032	0	0	0	0.0002	0.0014	0.0035	0.026	0.46910	D	0.05	0.48080	T	.	.	.	.	.	.	0.624217	0.05774	U	1.391890	0.999962	0.52935	D	0	0.06538	N	2.94	0.09728	T	-0.93	0.24898	N	0.3	0.33904	-1.0008	0.29688	T	0.018	0.07423	T	8	0.008778155	0.00199	T	0.030695	0.52952	D	0.074	0.21613	.	.	0.229543500084	0.22568	0.5299194176901552	0.52915	0.837879280182	0.67888	0.543546915054	0.44947	T	0.137901	0.47110	T	-0.524806	0.00412	T	-0.531239	0.19162	T	0.00978345987330515	0.00129	T	0.426357	0.11459	T	0.07829908	0.17823	0.05266806	0.08721	0.07829908	0.17823	0.05266806	0.08721	-5.534	0.42185	T	.	.	0.108	0.20625	B	.	.	1.996285	0.25363	16.74	0.86886833396257601	0.16840	0.62281	0.31734	D	AEFDBCI	0.103141	0.20673	N	-0.654402605111544	0.17332	0.8909657	-0.680534052512014	0.17448	0.9277975	0.999709802540483	0.41986	0.695654	0.57023	0	0.601575	0.49859	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	3.31	1.28	0.20656	2.180000	0.42167	2.551000	0.33264	-0.826000	0.02916	0.889000	0.31176	0.662000	0.26021	0.000000	0.00833	0.2097:0.0:0.6106:0.1797	4.339	0.10539	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	841.98	37	chr3	126988613	.	G	T	841.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.900e+00;DP=849;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.52;ReadPosRankSum=1.21;SOR=0.658	GT:AD:DP:GQ:PL	0/1:28,30:58:99:856,0,816	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	0/1:58,16:74:99:.:.:111,0,1293	7	0	14	0
chr3	128976995	128976995	C	T	exonic	CFAP92	.	nonsynonymous SNV	CFAP92:NM_001348520:exon5:c.G7A:p.D3N	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.889	P	0.012	N	1.000	N	0.695	N	.	.	-1.056	T	0.108	T	0.024	3.378	17.39	3.63	2.327	2.899	11.102	0.186	0.00586150795439	8.3e-05	0.000199681	0.0005	0	0	0	0	0.0002	0	0.0033	0.0004334	67	154602	rs368155872	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0003	0.0033	0.0032	5.976e-05	0	0	0.0002	0	0.0005	7.917e-05	0.0003	0.0037	0.0002	0.0002	0.0002	0.0002	0.0025	0.0001	0.0001	0.0014	0.0011	4.813e-05	0	0	0	0	0	0	0.0002	0	0.0025	0.009	0.58626	D	0.033	0.53426	D	1.0	0.90584	D	0.889	0.63100	P	0.012237	0.29245	N	0.159885	1	0.08975	N	0.895	0.22405	L	.	.	.	-2.07	0.47344	N	0.165	0.17416	-1.0556	0.12882	T	0.108	0.39246	T	9	0.0072848797	0.00166	T	0.005862	0.15251	T	0.186	0.46104	.	.	0.0611884634855	0.05136	0.02086658751259671	0.02039	0.606121699755	0.55470	0.336169153452	0.15864	T	0.019784	0.15694	T	-0.612042	0.00123	T	-0.653089	0.08739	T	0.0800929932141362	0.09999	T	0.626737	0.24270	T	0.11398242	0.26914	0.08103384	0.18381	0.11398242	0.26913	0.08103384	0.18380	-3.675	0.19112	T	.	.	0.104	0.22609	B	.;.;.;.	.;.;.;.	3.137981	0.42432	21.5	0.99655472667420431	0.77568	0.18441	0.20261	N	AEFBI	0.114375	0.22530	N	-0.0665516235493234	0.38867	2.283013	-0.226826353503049	0.30578	1.722954	2.73897709760963E-4	0.06300	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	3.63	3.63	0.40741	2.910000	0.48464	3.831000	0.39996	0.549000	0.26987	0.196000	0.24261	0.944000	0.28851	0.003000	0.05239	0.0:1.0:0.0:0.0	11.102	0.47400	603	0.67726	.;.;.;.	.	.	.	.	.	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	1340.98	33	chr3	128976995	.	C	T	1340.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.420e-01;DP=827;ExcessHet=0.0000;FS=0.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=1.55;SOR=0.624	GT:AD:DP:GQ:PL	0/1:66,59:125:99:1355,0,1577	20	0	1	0
chr3	129547417	129547417	G	A	exonic	H1-8	.	nonsynonymous SNV	H1-8:NM_153833:exon2:c.G115A:p.G39R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.271	B	0.073	B	0.054	N	1.000	N	0.695	N	0.93	T	-1.074	T	0.061	T	0.141	1.177	9.786	-0.86	-0.180	-0.027	0.324	0.052	0.011049000587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.521	0.07235	T	0.526	0.10245	T	0.271	0.31796	B	0.073	0.28123	B	0.053864	0.02055	N	2.808710	1	0.08975	N	0	0.06538	N	0.93	0.44065	T	0.56	0.02680	N	0.101	0.08366	-1.0737	0.08619	T	0.061	0.25492	T	10	0.04049161	0.02622	T	0.011049	0.28270	T	0.052	0.14661	0.189	0.09907	0.134241683229	0.13084	0.3688756663700294	0.36801	0.0664251731897	0.07407	0.460333019495	0.33356	T	0.027348	0.20046	T	-0.29333	0.09304	T	-0.659125	0.08325	T	0.116801382502882	0.14114	T	0.310069	0.06017	T	0.03421154	0.03795	0.051912967	0.08450	0.03421154	0.03794	0.051912967	0.08450	-3.137	0.11726	T	.	.	0.144	0.31808	B	.	.	0.007997	0.04336	1.105	0.8768098372509604	0.17404	0.00710	0.03005	N	AEFDI	0.032018	0.03537	N	-1.10869240173283	0.06487	0.2987872	-1.22504100536658	0.05510	0.2627332	0.964561030649586	0.28769	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	2.33	-0.86	0.10140	0.221000	0.17463	-0.948000	0.06824	0.098000	0.17617	0.003000	0.16062	0.000000	0.08366	0.008000	0.08271	0.2763:0.203:0.3154:0.2054	0.324	0.00286	514	0.74853	.	.	.	.	.	.	Uncertain significance	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	58.84	39	chr3	129547417	.	G	A	58.84	.	AC=2;AF=0.200;AN=10;BaseQRankSum=-8.070e-01;DP=656;ExcessHet=0.1128;FS=2.520;InbreedingCoeff=-0.3113;MLEAC=4;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=1.47;ReadPosRankSum=2.33;SOR=1.244	GT:AD:DP:GQ:PL	0/1:17,8:25:46:46,0,502	3	0	2	16
chr3	130379796	130379796	C	T	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon4:c.C1046T:p.P349L	.	.	428	1044	47	3	0	53	0.0247548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.696	P	0.283	B	.	.	1.000	N	1.79	L	-1.69	D	-0.446	T	0.458	T	0.173	2.298	13.64	5.34	2.503	1.076	12.876	0.228	.	.	0.00199681	0.0131	0.0005	0.0049	0	0	0.0039	0.0158	0.0279	0.0021539	333	154602	rs142949552	0.0030	0.0028	0.0023	0.0037	0.0240	0.0029	0.0029	0.0231	0.0227	0.0006	0.0015	0.0040	5.597e-05	0.0002	0.0226	0.0016	0.0043	0.0240	0.0021	0.0021	0.0019	0.0024	0.0204	0.0019	0.0019	0.0171	0.0159	0.0004	0	0.0015	0.0063	0	0.0005	0.0170	0.0021	0.0047	0.0204	0.017	0.51248	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.69	0.82985	D	-3.96	0.73579	D	0.058	0.02964	-0.4461	0.70529	T	0.458	0.78901	T	9	0.005708158	0.00127	T	.	.	.	0.228	0.52768	.	.	.	.	0.41726518107133853	0.41642	0.188780204204	0.21197	0.303890168667	0.10984	T	0.18915	0.54328	T	-0.378357	0.03190	T	-0.297336	0.45005	T	0.0376475582209328	0.03269	T	0.787421	0.42665	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26545	B	.	.	2.481712	0.32005	18.91	0.99593865867800668	0.73748	0.12434	0.17266	N	AEFDBI	0.155089	0.28022	N	-0.088144379818127	0.37910	2.212591	-0.0915332530468588	0.35738	2.071255	0.999450908489858	0.39788	0.742599	0.98188	0	0.588764	0.42986	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.34	5.34	0.75982	0.554000	0.23113	4.837000	0.45250	0.599000	0.40250	0.000000	0.06391	0.542000	0.25421	0.150000	0.20306	0.163:0.8369:0.0:0.0	12.876	0.57381	402	0.82617	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.09524	8044.92	39	chr3	130379796	.	C	T	8044.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-1.680e+00;DP=1213;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=14.44;ReadPosRankSum=-7.440e-01;SOR=0.692	GT:AD:DP:GQ:PL	0/1:67,53:120:99:1351,0,1936	17	0	4	0
chr3	130388984	130388984	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon6:c.G2266A:p.V756M	.	.	419	1093	8	2	0	12	0.00545951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	.	.	0.955	N	2.995	M	-2.16	D	0.155	D	0.792	D	0.483	2.114	13.03	3.67	1.305	2.061	9.589	0.524	0.0195653090711	0.0004	0.000399361	0.0025	0	0	0	0	0.0032	0	0.0028	0.0003752	58	154602	rs377358492	0.0005	0.0005	0.0004	0.0006	0.0024	0.0005	0.0004	0.0021	0.0020	3.176e-05	0.0002	0.0086	2.8e-05	4.071e-05	0.0019	0.0002	0.0010	0.0024	0.0005	0.0005	0.0006	0.0005	0.0031	0.0004	0.0004	0.0019	0.0015	4.813e-05	0	6.544e-05	0.0098	0	0	0.0068	0.0004	0.0005	0.0031	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.955082	0.26346	N	.	.	.	-2.16	0.86549	D	-2.67	0.57110	D	0.393	0.43417	0.155	0.85138	D	0.792	0.92959	D	9	0.009914666	0.00222	T	0.019565	0.41966	T	0.524	0.79825	.	.	0.716472666699	0.71398	0.3207367982669869	0.31986	0.237652843906	0.26305	0.44507342577	0.31271	T	0.453123	0.79318	T	-0.223272	0.17547	T	-0.0999667	0.63400	T	0.136437611826697	0.15965	T	0.79512	0.43772	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.57969	A	.	.	4.027593	0.59527	24.1	0.99658042523168722	0.77757	0.79873	0.39667	D	AEFGBCI	0.302856	0.41098	N	0.475063636275797	0.65638	4.847744	0.332550711983892	0.57460	3.912014	0.999996764386553	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.48	3.67	0.41236	1.255000	0.32512	5.214000	0.47976	0.676000	0.76740	0.459000	0.26636	1.000000	0.68203	0.785000	0.37106	0.2299:0.0:0.7701:0.0	9.589	0.38699	403	0.82567	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1630.98	37	chr3	130388984	.	G	A	1630.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.006e+00;DP=834;ExcessHet=0.0000;FS=1.430;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=1.46;SOR=0.554	GT:AD:DP:GQ:PL	0/1:58,66:124:99:1645,0,1620	20	0	1	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	0/1:48,17,8,0:73:99:.:.:475,0,764,118,887,1986,440,951,1613,1765	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	0/1:48,17,8,0:73:99:.:.:475,0,764,118,887,1986,440,951,1613,1765	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	0/1:48,17,8,0:73:99:.:.:475,0,764,118,887,1986,440,951,1613,1765	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|1:52,20,0:72:99:0|1:130421337_T_C:387,0,1899,543,1958,2501:130421337	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|1:52,20,0:72:99:0|1:130421337_T_C:387,0,1899,543,1958,2501:130421337	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|1:52,20,0:72:99:0|1:130421337_T_C:387,0,1899,543,1958,2501:130421337	6	0	10	4
chr3	155853645	155853645	G	A	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353T:p.P118L	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2825036	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.69	H	-1.41	T	0.779	D	0.787	D	0.924	5.278	33	5.57	2.788	7.646	19.982	0.916	0.180330631785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-9.7	0.98602	D	0.933	0.93841	0.779	0.94149	D	0.787	0.92761	D	10	0.9592407	0.95314	D	0.180331	0.85482	D	0.916	0.97814	0.831	0.94042	0.971361032142	0.97104	0.9490389787202539	0.94886	2.26454559714	0.96209	0.848731040955	0.89423	D	0.814515	0.95400	D	0.434457	0.91756	D	0.386291	0.91653	D	0.999908089637756	0.99629	D	0.999721	0.99933	D	0.9729656	0.98529	0.93255115	0.97270	0.9729656	0.98529	0.93255115	0.97270	-13.696	0.92027	D	0.9927983798285628	0.99830	0.978	0.91951	P	.;.;.;.	.;.;.;.	5.608546	0.92513	32	0.9991421996857478	0.98309	0.83916	0.43007	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3235	3698.37	37	chr3	155853645	.	G	A,C	3698.37	.	AC=2,9;AF=0.059,0.265;AN=34;BaseQRankSum=-3.879e+00;DP=2059;ExcessHet=7.7275;FS=226.061;InbreedingCoeff=-0.4474;MLEAC=2,10;MLEAF=0.059,0.294;MQ=60.00;MQRankSum=0.00;QD=2.91;ReadPosRankSum=1.31;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:91,11,8:110:49:.:.:54,0,2666,49,2768,3685	6	0	2	4
chr3	155853645	155853645	G	C	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353G:p.P118R	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1016191	Hereditary_spastic_paraplegia_42	MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.69	H	-1.41	T	0.779	D	0.787	D	0.955	4.886	28.0	5.57	2.788	7.646	19.982	0.936	0.221168805032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0016	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0009	0	0.0003	0.0002	0	0.0002	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-8.72	0.97670	D	0.955	0.96416	0.779	0.94149	D	0.787	0.92761	D	10	0.9656291	0.96041	D	0.221169	0.87793	D	0.936	0.98563	0.852	0.95318	0.981310105081	0.98110	0.9652344313428964	0.96510	2.3006740423	0.96469	0.845638930798	0.88955	D	0.814515	0.95400	D	0.434482	0.91756	D	0.386327	0.91654	D	0.999483108520508	0.97590	D	0.999658	0.99877	D	0.97771263	0.98930	0.9704348	0.99484	0.97771263	0.98930	0.9704348	0.99484	-15.861	0.97545	D	0.9924786288168476	0.99821	0.997	0.97160	P	.;.;.;.	.;.;.;.	5.657968	0.92855	33	0.99869421297510097	0.94726	0.91924	0.54558	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3235	3698.37	37	chr3	155853645	.	G	A,C	3698.37	.	AC=2,9;AF=0.059,0.265;AN=34;BaseQRankSum=-3.879e+00;DP=2059;ExcessHet=7.7275;FS=226.061;InbreedingCoeff=-0.4474;MLEAC=2,10;MLEAF=0.059,0.294;MQ=60.00;MQRankSum=0.00;QD=2.91;ReadPosRankSum=1.31;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:91,11,8:110:49:.:.:54,0,2666,49,2768,3685	6	0	2	4
chr3	157381267	157381267	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1016G:p.S339C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.016	B	0.006	B	0.008	N	1.000	D	1.1	L	3.02	T	-1.085	T	0.025	T	0.19	1.903	12.32	5.47	2.569	1.889	10.655	0.047	0.00405651869442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.706e-05	0.0015	3.271e-05	2.14e-05	3.398e-05	2.012e-05	1.762e-05	2.487e-05	2.207e-05	3.089e-05	0	0	0	0	0	3.398e-05	1.71e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.094	0.39799	T	0.016	0.17332	B	0.006	0.12133	B	0.007582	0.31308	N	0.359250	0.787702	0.29261	N	1.43	0.35840	L	3.01	0.09075	T	-1.91	0.46337	N	0.318	0.36674	-1.0854	0.06335	T	0.025	0.10464	T	10	0.14302394	0.27159	T	0.004057	0.09681	T	0.047	0.12962	0.413	0.45052	0.203808441222	0.19973	0.21481885595038	0.21397	0.0389899136919	0.04147	0.438936650753	0.30431	T	0.149031	0.48786	T	-0.240838	0.15241	T	-0.583723	0.14213	T	0.213982076796247	0.21159	T	0.79972	0.44511	T	0.09153386	0.21449	0.07893088	0.17725	0.09153386	0.21449	0.07893088	0.17725	-7.287	0.56309	T	.	.	0.085	0.11269	B	.;.;.	.;.;.	3.162719	0.42862	21.6	0.91500678835389826	0.20774	0.88574	0.48565	D	AEFDBI	0.301950	0.41033	N	-0.0840343711138489	0.38093	2.225797	0.083874411417393	0.43736	2.669398	0.99938992129566	0.39415	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	1.981000	0.40250	9.905000	0.82381	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.848000	0.40082	0.0:0.1414:0.7122:0.1463	10.655	0.44865	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	6359.01	153	chr3	157381267	.	G	C	6359.01	.	AC=8;AF=0.250;AN=32;BaseQRankSum=-4.595e+00;DP=3537;ExcessHet=3.5521;FS=96.014;InbreedingCoeff=-0.3383;MLEAC=10;MLEAF=0.313;MQ=60.00;MQRankSum=0.00;QD=3.69;ReadPosRankSum=1.96;SOR=11.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,43:246:99:0|1:157381266_G_C:933,0,8315:157381266	8	0	8	5
chr3	157381269	157381269	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1014G:p.F338L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.986	D	0.716	P	0.000	D	1.000	D	1.78	L	2.87	T	-1.157	T	0.050	T	0.611	2.725	15.07	4.6	1.319	7.223	13.320	0.234	0.00696849747109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.197e-05	0.0013	1.98e-05	2.414e-05	2.814e-05	1.574e-05	1.372e-05	1.996e-05	1.733e-05	0	0	0	0	0	0	2.814e-05	1.703e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.075	0.43344	T	0.986	0.61523	D	0.716	0.54713	P	0.000000	0.84330	D	0.052188	0.999883	0.50402	D	1.79	0.46772	L	2.8	0.11082	T	-2.64	0.60827	D	0.629	0.64308	-1.1573	0.00823	T	0.050	0.21300	T	10	0.65501356	0.69822	D	0.006968	0.18458	T	0.234	0.53644	0.566	0.68768	0.380052290102	0.37618	0.540766503490007	0.54001	0.0497134926514	0.05451	0.693336129189	0.66186	T	0.39328	0.75273	T	-0.0694684	0.41412	T	-0.337563	0.40622	T	0.937143862247467	0.60670	D	0.890411	0.63503	D	0.3446262	0.56645	0.22055541	0.46835	0.3446262	0.56645	0.22055541	0.46834	-10.426	0.76421	D	.	.	0.981	0.91639	P	.;.;.	.;.;.	4.365249	0.67160	25.1	0.99181655721304818	0.54701	0.98496	0.83394	D	AEFDBI	0.895770	0.83615	D	0.298767961957114	0.56086	3.772896	0.29353445057777	0.55160	3.679457	0.999999819584022	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	4.6	0.56512	7.371000	0.78858	5.894000	0.50799	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.0755:0.0:0.9245:0.0	13.320	0.59864	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2353	6222.97	159	chr3	157381269	.	G	C	6222.97	.	AC=8;AF=0.235;AN=34;BaseQRankSum=-6.295e+00;DP=3622;ExcessHet=3.5521;FS=94.732;InbreedingCoeff=-0.3126;MLEAC=9;MLEAF=0.265;MQ=60.00;MQRankSum=0.00;QD=3.60;ReadPosRankSum=1.96;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,43:246:99:0|1:157381266_G_C:933,0,8344:157381266	9	0	8	4
chr3	157381272	157381276	GGTGT	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1007_1011del:p.D336Vfs*24	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	5793.21	203	chr3	157381271	.	AGGTGT	A,AT	5793.21	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=-3.886e+00;DP=4123;ExcessHet=3.5521;FS=94.048;InbreedingCoeff=-0.2353;MLEAC=5,3;MLEAF=0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=3.32;ReadPosRankSum=2.17;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:204,20,25:249:7:.:.:647,7,8388,0,8147,8320	13	0	5	0
chr3	157381272	157381275	GGTG	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1008_1011del:p.T337Sfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	0.0002	1.363e-06	2.754e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	5793.21	203	chr3	157381271	.	AGGTGT	A,AT	5793.21	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=-3.886e+00;DP=4123;ExcessHet=3.5521;FS=94.048;InbreedingCoeff=-0.2353;MLEAC=5,3;MLEAF=0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=3.32;ReadPosRankSum=2.17;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:204,20,25:249:7:.:.:647,7,8388,0,8147,8320	13	0	5	0
chr3	157381275	157381275	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1191.7	160	chr3	157381275	.	G	*,GCCCC	1191.7	.	AC=3,3;AF=0.107,0.107;AN=28;BaseQRankSum=-1.117e+00;DP=3156;ExcessHet=1.7912;FS=101.214;InbreedingCoeff=-0.3105;MLEAC=4,4;MLEAF=0.143,0.143;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=0.952;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:193,20,25:238:7:.:.:680,7,7963,0,7722,7895	8	0	3	7
chr3	157381275	157381275	-	CCCC	exonic	VEPH1	.	frameshift insertion	VEPH1:NM_001167911:exon7:c.1007_1008insGGGG:p.D336Efs*27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1191.7	160	chr3	157381275	.	G	*,GCCCC	1191.7	.	AC=3,3;AF=0.107,0.107;AN=28;BaseQRankSum=-1.117e+00;DP=3156;ExcessHet=1.7912;FS=101.214;InbreedingCoeff=-0.3105;MLEAC=4,4;MLEAF=0.143,0.143;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=0.952;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:193,20,25:238:7:.:.:680,7,7963,0,7722,7895	8	0	3	7
chr3	160425021	160425022	TA	-	splicing	SMC4	NM_001288753:exon16:r.spl;NM_001002800:exon16:r.spl;NM_005496:exon15:r.spl	.	.	.	.	738	782	1	0	1	2	0.000638978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0058	.	0.0004	0	0.0002	0.0020	0.0006	0.0002	0	0.0005	0.0002458	38	154602	rs749856363	0.0001	0.0004	0.0001	0.0001	0.0010	0.0001	0.0001	0.0008	0.0007	9.027e-05	0.0002	0.0004	0.0010	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	6.117e-05	0	0.0004	0.0003	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	605.94	37	chr3	160425020	.	GTA	G	605.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.370e-01;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=24.24;ReadPosRankSum=2.36;SOR=0.551	GT:AD:DP:GQ:PL	0/1:7,18:25:99:620,0,173	20	0	1	0
chr3	184233342	184233342	C	G	exonic	VWA5B2	.	nonsynonymous SNV	VWA5B2:NM_138345:exon3:c.C475G:p.L159V,	.	.	411	1108	3	0	0	3	0.00135196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.767	P	0.344	B	.	.	1.000	D	0.895	L	0.56	T	-1.085	T	0.098	T	0.288	0.437	6.373	4.24	2.357	0.975	8.172	0.059	0.0140745481934	.	.	0.0003	0	0	0	0	0.0008	0	0	5.82e-05	9	154602	rs756695116	0.0001	0.0001	0.0001	0.0001	0.0050	9.853e-05	9.308e-05	0.0035	0.0030	3.193e-05	0	0.0025	0	0.0002	0.0050	2.889e-05	0.0004	3.9e-05	0.0002	0.0002	0.0001	0.0002	4.411e-05	0.0001	8.712e-05	1.171e-05	6.25e-06	0	0	0	0.0052	0	0	0.0068	4.411e-05	0	0	0.42	0.09836	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	1.78	0.46185	L	0.56	0.54540	T	-0.37	0.13226	N	0.268	0.30347	-1.0846	0.06480	T	0.098	0.36780	T	9	0.014487684	0.00305	T	0.014075	0.33954	T	0.059	0.16972	0.212	0.13066	0.316494231283	0.31262	0.41719280051419944	0.41635	0.883172336007	0.69846	0.52714073658	0.42632	T	0.00172	0.01148	T	-0.235239	0.15962	T	-0.431272	0.29791	T	0.0331031200435844	0.02488	T	0.680232	0.28883	T	0.07713111	0.17487	0.1138383	0.27476	0.07713111	0.17487	0.1138383	0.27475	-3.623	0.18190	T	.	.	0.088	0.11845	B	.	.	2.917028	0.38715	20.8	0.89469559176289826	0.18823	0.75066	0.36738	D	AEFDBI	0.344483	0.43995	N	-0.12121776389236	0.36470	2.108435	-0.0868420942782797	0.35934	2.084877	0.38794376313017	0.20020	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	4.24	4.24	0.49486	1.125000	0.30946	3.320000	0.37537	0.599000	0.40250	0.641000	0.28093	0.998000	0.33993	0.816000	0.38450	0.0:0.8917:0.0:0.1083	8.172	0.30421	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	1301.98	36	chr3	184233342	.	C	G	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.460e-01;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.69;ReadPosRankSum=-7.750e-01;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,35:78:99:0|1:184233342_C_G:1316,0,1666:184233342	20	0	1	0
chr3	184291090	184291090	T	A	exonic	ECE2;EEF1AKMT4-ECE2	.	nonsynonymous SNV	ECE2:NM_001037324:exon16:c.T1798A:p.S600T	.	.	427	1086	9	0	0	9	0.00412655	.	.	2783350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.46	T	0.988	D	0.998	D	0.000	D	1.000	D	0.095	N	-1.69	D	-0.215	T	0.474	T	0.611	2.672	14.89	4.94	1.855	6.139	13.448	0.534	0.0871343172307	0.0029	0.000798722	0.0023	0.0004	0.0012	0	0.0005	0.0033	0	0.0024	0.0021798	337	154602	rs149515968	0.0034	0.0034	0.0034	0.0033	0.0072	0.0033	0.0033	0.0055	0.0049	0.0005	0.0009	0.0027	0	0.0004	0.0072	0.0039	0.0035	0.0025	0.0018	0.0018	0.0021	0.0015	0.0031	0.0016	0.0016	0.0028	0.0026	0.0005	0	0.0007	0.0052	0	0	0.0102	0.0031	0.0009	0.0021	0.287	0.15149	T	0.604	0.07842	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-1.69	0.82985	D	0.41	0.03579	N	0.547	0.57348	-0.2147	0.77292	T	0.474	0.79831	T	10	0.011590838	0.00253	T	0.087134	0.74874	D	0.534	0.80426	.	.	0.804903237259	0.80307	0.8139329294986658	0.81349	0.722573599317	0.62293	0.653385102749	0.60466	T	0.220363	0.58363	T	-0.235899	0.15875	T	-0.113418	0.62337	T	0.0466854950948604	0.04907	T	0.931907	0.74652	D	0.27490404	0.50555	0.3827862	0.63257	0.27490404	0.50555	0.3827862	0.63257	-3.222	0.18016	T	.	.	0.228	0.50343	B	.;.;.;.;.	.;.;.;.;.	3.721270	0.53179	23.3	0.98275703925586155	0.39805	0.91222	0.53100	D	AEFDBCI	0.807601	0.73160	D	0.248822874876129	0.53580	3.526317	0.314346358214065	0.56382	3.801448	0.999999999938906	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.550215	0.18615	0	0.542086	0.14980	0	.	.	4.94	4.94	0.64645	6.118000	0.71287	3.524000	0.38916	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.773000	0.36634	0.0:0.0:0.0:1.0	13.448	0.60605	724	0.55085	Peptidase M13, C-terminal domain;.;.;Peptidase M13, C-terminal domain;Peptidase M13, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	590.98	39	chr3	184291090	.	T	A	590.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.49;DP=752;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.55;ReadPosRankSum=-2.190e-01;SOR=0.910	GT:AD:DP:GQ:PL	0/1:19,19:38:99:605,0,499	20	0	1	0
chr3	188609351	188609351	C	T	exonic	LPP	.	nonsynonymous SNV	LPP:NM_001167672:exon5:c.C620T:p.P207L	Leukemia, acute myeloid, Autosomal dominant;Lipoma (3)	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.991	D	0.000	D	1.000	D	1.04	L	1.3	T	-0.420	T	0.340	T	0.797	4.988	29.2	5.54	2.779	6.880	18.829	0.277	0.0710325614279	0.0006	0.000199681	0.0005	0.0005	8.64e-05	0	0	0.0007	0	0.0001	0.0004981	77	154602	rs142287153	0.0008	0.0008	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	8.961e-05	0.0001	0	0	3.744e-05	0.0002	0.0010	0.0008	0.0002	0.0006	0.0006	0.0006	0.0006	0.0011	0.0005	0.0004	0.0009	0.0008	0.0003	0	6.542e-05	0	0	0	0.0138	0.0011	0.0005	0	0.002	0.91255	D	0.139	0.69154	T	0.957	0.55692	D	0.612	0.52216	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.31	0.66127	M	1.3	0.41750	T	-6.29	0.94249	D	0.856	0.85238	-0.4203	0.71383	T	0.340	0.70632	T	10	0.1419073	0.26958	T	0.071033	0.71161	D	0.277	0.59375	.	.	0.302481332339	0.29867	0.436927106031154	0.43609	.	.	0.746054470539	0.73864	T	0.257104	0.82637	T	-0.163748	0.26185	T	-0.0535403	0.66780	D	0.188260033726692	0.19741	T	0.960404	0.85096	D	0.35955316	0.57802	0.40526414	0.64931	0.35955316	0.57802	0.40526414	0.64931	-6.403	0.49533	T	.	.	0.413	0.63138	A	.;.;.;.;.	.;.;.;.;.	4.823996	0.78594	26.9	0.99884225847155284	0.95970	0.99098	0.91196	D	AEFBI	0.792352	0.72067	D	0.633185884699484	0.75284	6.278943	0.685153606881795	0.81252	7.483265	0.999999999999982	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	6.931000	0.75678	7.723000	0.67399	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	18.829	0.92098	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	2821.98	33	chr3	188609351	.	C	T	2821.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.314e+00;DP=1337;ExcessHet=0.0000;FS=2.469;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.18;ReadPosRankSum=-1.600e+00;SOR=0.521	GT:AD:DP:GQ:PL	0/1:88,111:199:99:2836,0,2306	20	0	1	0
chr3	193658970	193658970	G	T	exonic	OPA1	.	nonsynonymous SNV	OPA1:NM_130831:exon21:c.G2142T:p.E714D	Behr syndrome, Autosomal recessive;Optic atrophy 1, Autosomal dominant;Optic atrophy plus syndrome, Autosomal dominant	.	1	1520	1	0	0	1	0.000328839	.	.	3152463	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.35	T	0.002	B	0.003	B	0.000	D	1.000	D	-0.11	N	-3.16	D	-0.559	T	0.513	D	0.212	1.650	11.48	0.165	0.068	0.411	6.431	0.281	0.0655121152827	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274466249	2.053e-06	2.736e-06	0	4.127e-06	1.159e-05	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	8.999e-07	1.657e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418	0.11334	T	0.592	0.08419	T	0.0	0.07471	B	0.001	0.08700	B	0.000000	0.84330	D	0.045056	0.999502	0.47320	D	0.665	0.16292	N	-3.17	0.94940	D	-0.88	0.25118	N	0.296	0.33469	-0.5592	0.66434	T	0.513	0.81710	D	10	0.14803845	0.28040	T	0.065512	0.69601	D	0.281	0.59861	0.316	0.29258	0.621472958635	0.61840	0.5443422902987497	0.54360	0.505707526682	0.48801	0.662784218788	0.61807	T	0.013371	0.55373	T	-0.0516918	0.44191	T	-0.215174	0.53200	T	0.0714368908214978	0.08851	T	0.920308	0.71541	D	0.08368083	0.19335	0.09391985	0.22208	0.08368083	0.19335	0.09391985	0.22208	-6.033	0.46555	T	0.1109835030460008	0.09439	0.100	0.21163	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.155569	0.27462	17.47	0.97253942970799945	0.33057	0.83662	0.42764	D	AEFDBI	0.120845	0.23522	N	-0.588560608628122	0.19290	1.008471	-0.406303768339849	0.24811	1.360827	0.997191424366456	0.35363	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.89	0.165	0.14282	0.439000	0.21293	1.744000	0.28423	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.3731:0.0:0.5087:0.1181	6.431	0.20999	953	0.10115	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	1744.98	42	chr3	193658970	.	G	T	1744.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.284e+00;DP=860;ExcessHet=0.0000;FS=2.187;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=0.280;SOR=0.501	GT:AD:DP:GQ:PL	0/1:68,74:142:99:1759,0,1644	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	0/1:225,133,0:358:99:.:.:4811,0,8960,5619,9499,15842	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	0/2:225,0,133:358:99:.:.:4811,5619,15842,0,9499,8960	5	0	2	7
chr3	195779404	195779404	G	0	exonic	MUC4	.	.	.	.	.	476	823	94	122	7	345	0.170363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	2388.95	193	chr3	195779404	.	G	*,C	2388.95	.	AC=7,1;AF=0.184,0.026;AN=38;BaseQRankSum=-3.053e+00;DP=4001;ExcessHet=0.0354;FS=0.000;InbreedingCoeff=0.3277;MLEAC=8,1;MLEAF=0.211,0.026;MQ=56.64;MQRankSum=-1.569e+01;QD=1.40;ReadPosRankSum=6.49;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:225,133,0:358:99:.:.:4811,0,8960,5619,9499,15842	13	2	3	2
chr3	195779404	195779404	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12176G:p.T4059R,	.	.	476	823	94	122	7	345	0.170363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	B	0.007	B	.	.	1.000	N	0.55	N	1.17	T	-1.030	T	0.056	T	0.05	0.115	4.621	.	0.488	0.295	6.707	0.009	0.00182528942992	.	.	7.262e-05	0	0	0	0	0.0002	0	0	.	.	.	rs776979023	0.0009	0.0009	0.0007	0.0011	0.0040	0.0009	0.0009	0.0036	0.0035	0.0001	0.0001	0.0070	0	0	0.0009	0.0006	0.0016	0.0040	4.891e-05	0.0002	3.186e-05	6.678e-05	0.0001	1.298e-05	6.6e-06	3.471e-05	1.834e-05	0	0	0	0	0	0	0	0.0001	0	0	0.027	0.49613	D	0.119	0.36101	T	.	.	.	.	.	.	.	.	.	.	1	0.19363	N	.	.	.	1.12	0.38718	T	-0.72	0.20358	N	0.076	0.05037	-1.0299	0.20487	T	0.056	0.23639	T	7	0.042829275	0.03071	T	0.001825	0.03141	T	0.009	0.00846	0.264	0.20946	0.0401082797425	0.02173	0.010072051980256853	0.00969	.	.	0.559079825878	0.47139	T	.	.	.	-0.273447	0.11375	T	-0.630564	0.10373	T	0.0419996122301424	0.04055	T	0.784022	0.42156	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.30920	B	.;.	.;.	1.950288	0.24774	16.52	0.74889682782063816	0.10865	0.00529	0.02453	N	AEFBI	0.067654	0.13309	N	-1.1883514193745	0.05176	0.2353132	-1.30398640180941	0.04378	0.2063858	3.08878075065964E-5	0.03498	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	0.997000	0.29333	0.217000	0.16029	0.086000	0.17587	0.024000	0.20007	0.001000	0.17328	0.023000	0.12082	2.0E-4:0.0:0.9998:0.0	6.707	0.22443	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	0.2105	2388.95	193	chr3	195779404	.	G	*,C	2388.95	.	AC=7,1;AF=0.184,0.026;AN=38;BaseQRankSum=-3.053e+00;DP=4001;ExcessHet=0.0354;FS=0.000;InbreedingCoeff=0.3277;MLEAC=8,1;MLEAF=0.211,0.026;MQ=56.64;MQRankSum=-1.569e+01;QD=1.40;ReadPosRankSum=6.49;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:225,133,0:358:99:.:.:4811,0,8960,5619,9499,15842	13	2	3	2
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	0/1:225,133,0:358:99:.:.:4811,0,8960,5619,9499,15842	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	0/1:225,133,0:358:99:.:.:4811,0,8960,5619,9499,15842	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	0/1:225,133,0:358:99:.:.:4811,0,8960,5619,9499,15842	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	0/1:225,133,0:358:99:.:.:4811,0,8960,5619,9499,15842	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	0/1:225,133,0:358:99:.:.:4811,0,8960,5619,9499,15842	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	0/1:225,133,0:358:99:.:.:4811,0,8960,5619,9499,15842	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	0/1:225,133,0:358:99:.:.:4811,0,8960,5619,9499,15842	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	0/1:225,133,0:358:99:.:.:4811,0,8960,5619,9499,15842	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	0/1:225,133,0:358:99:.:.:4811,0,8960,5619,9499,15842	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	0/1:225,133,0:358:99:.:.:4811,0,8960,5619,9499,15842	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	0/2:225,0,133:358:99:.:.:4811,5619,15842,0,9499,8960	12	0	2	1
chr3	195779507	195779554	CTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTAGATA	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.12026_12073del:p.V4009_S4024del	.	.	467	1038	5	5	7	22	0.0071736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0026	0.0028	0	0	0.0005	0	0.0011	.	.	.	.	0.0024	0.0054	0.0025	0.0024	0.0067	0.0023	0.0023	0.0046	0.0039	0.0006	0.0034	0.0027	0.0003	0.0012	0.0067	0.0025	0.0025	0.0020	0.0003	0.0006	0.0002	0.0004	0.0011	0.0002	0.0002	0.0004	0.0003	8.399e-05	0	0.0008	0	0	0	0	0.0003	0.0016	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	7119.34	193	chr3	195779506	.	GCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTAGATA	G	7119.34	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.500;DP=3348;ExcessHet=0.0000;FS=2.307;InbreedingCoeff=-0.0558;MLEAC=1;MLEAF=0.028;MQ=53.41;MQRankSum=5.07;QD=20.46;ReadPosRankSum=2.42;SOR=0.566	GT:AD:DP:GQ:PL	0/1:149,199:348:99:7132,0,5446	17	0	1	3
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	1/2:0,199,137:336:99:.:.:11039,5429,4831,6038,0,8044	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|2:204,0,42:246:99:0|1:195780182_A_C:1150,1764,10289,0,8525,8399:195780182	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	0/1:201,252,0:453:99:.:.:6218,0,5063,6819,5814,12633	10	2	5	3
chr3	195781275	195781323	GGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCT	0	exonic	MUC4	.	.	.	.	.	0	194	26	0	6	32	0.0628019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	12425.48	492	chr3	195781275	.	GGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCT	G,*	12425.48	.	AC=2,3;AF=0.050,0.075;AN=40;BaseQRankSum=2.28;DP=10510;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1570;MLEAC=2,3;MLEAF=0.050,0.075;MQ=58.75;MQRankSum=-3.642e+00;QD=4.35;ReadPosRankSum=0.454;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:245,0,175:421:99:0|1:195781268_C_*:5694,6397,16481,0,10018,9578:195781268	15	0	2	1
chr3	195781604	195781604	-	GTGACCTGTGGATGCTGAGGAAGTGTCGGTGACATGAAGAGGGGTGGT	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.9975_9976insACCACCCCTCTTCATGTCACCGACACTTCCTCAGCATCCACAGGTCAC:p.H3325_A3326insTTPLHVTDTSSASTGH,	.	.	455	772	278	1	16	296	0.153509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0	0	0.0003	0	0.0008	.	.	.	.	0.0004	0.0003	0.0003	0.0004	0.0051	0.0003	0.0003	0.0029	0.0022	0	0.0027	0.0013	0	0	0.0051	0.0002	0.0007	0.0012	0.0004	0.0005	0.0003	0.0005	0.0010	0.0003	0.0002	0.0004	0.0003	5.202e-05	0	0.0010	0.0009	0	0	0	0.0005	0.0013	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	6595.46	368	chr3	195781604	.	C	T,CGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACATGAAGAGGGGTGGT,*	6595.46	.	AC=1,1,1;AF=0.056,0.056,0.056;AN=18;BaseQRankSum=5.02;DP=8353;ExcessHet=0.3672;FS=4.421;InbreedingCoeff=-0.1948;MLEAC=2,2,2;MLEAF=0.111,0.111,0.111;MQ=56.46;MQRankSum=-1.429e+00;QD=4.51;ReadPosRankSum=-3.433e+00;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:146,0,169,0:315:99:0|1:195781604_C_CGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACATGAAGAGGGGTGGT:5866,6744,15286,0,6390,5535,6744,15286,6390,15286:195781604	6	0	1	12
chr3	195781604	195781604	C	0	exonic	MUC4	.	.	.	.	.	455	772	278	1	16	296	0.153509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	6595.46	368	chr3	195781604	.	C	T,CGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACATGAAGAGGGGTGGT,*	6595.46	.	AC=1,1,1;AF=0.056,0.056,0.056;AN=18;BaseQRankSum=5.02;DP=8353;ExcessHet=0.3672;FS=4.421;InbreedingCoeff=-0.1948;MLEAC=2,2,2;MLEAF=0.111,0.111,0.111;MQ=56.46;MQRankSum=-1.429e+00;QD=4.51;ReadPosRankSum=-3.433e+00;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:146,0,169,0:315:99:0|1:195781604_C_CGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACATGAAGAGGGGTGGT:5866,6744,15286,0,6390,5535,6744,15286,6390,15286:195781604	6	0	1	12
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|1:146,180,0:326:99:1|0:195781604_C_CGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACATGAAGAGGGGTGGT:4676,0,5186,5625,5945,13773:195781604	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	0/2:179,0,164:344:99:.:.:5608,6414,16542,0,9717,9939	13	0	1	1
chr3	195782885	195782885	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8695G:p.L2899V	.	.	441	1001	71	3	6	83	0.037037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	B	0.002	B	.	.	0.827	N	0	N	1.48	T	-0.997	T	0.029	T	0.052	0.090	4.487	.	-0.000	-3.385	3.442	0.025	0.00300548804343	.	.	9.549e-05	0	0	0	0	0	0	0.0003	0.0016521	43	26028	rs28750097	0.0009	0.0041	0.0010	0.0008	0.0040	0.0009	0.0008	0.0032	0.0029	0.0040	0.0002	0.0003	0.0004	0.0006	0.0031	0.0009	0.0012	0.0002	0.0020	0.0064	0.0023	0.0017	0.0052	0.0017	0.0016	0.0042	0.0038	0.0052	0.0023	0.0012	0.0005	0.0016	0.0014	0	0.0014	0	0.0020	1.0	0.00964	T	0.239	0.24549	T	.	.	.	.	.	.	.	.	.	.	1	0.28805	N	.	.	.	1.48	0.31731	T	0.12	0.06026	N	0.041	0.01421	-0.9966	0.30865	T	0.029	0.12453	T	7	0.018572211	0.00405	T	0.003005	0.06427	T	0.025	0.05312	.	.	0.0138822411134	0.00435	3.044775719837448E-5	0.00003	.	.	0.465785056353	0.34102	T	.	.	.	-0.391543	0.02629	T	-0.800201	0.01897	T	0.0372411984655896	0.03198	T	0.614539	0.23442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00949	B	.;.	.;.	-0.394630	0.02232	0.226	0.80108681051515207	0.13048	0.00125	0.00780	N	AEFBI	0.068702	0.13564	N	-1.42677761699849	0.02406	0.1061872	-1.52815469191101	0.02130	0.09750297	1.15675074745198E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-1.437000	0.02525	-2.218000	0.04042	-1.118000	0.01477	0.000000	0.06391	0.008000	0.19753	0.005000	0.06747	0.6613:0.0:0.3387:0.0	3.442	0.07038	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	0.09091	8904.68	577	chr3	195782885	.	G	GAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGAC,C	8904.68	.	AC=1,1;AF=0.045,0.045;AN=22;BaseQRankSum=-1.141e+00;DP=13631;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.1940;MLEAC=2,2;MLEAF=0.091,0.091;MQ=57.07;MQRankSum=-1.545e+01;QD=7.58;ReadPosRankSum=-4.713e+00;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:481,0,54:535:99:.:.:381,987,20368,0,19522,19378	9	0	1	10
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	0/1:235,225,0:460:99:.:.:5042,0,5700,6185,6974,18351	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|1:200,82,0:282:99:0|1:195783068_G_T:2712,0,8063,3366,8358,12115:195783068	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|1:202,82,0:284:99:0|1:195783068_G_T:2706,0,8147,3330,8406,11816:195783068	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|2:201,0,62:263:99:0|1:195783068_G_T:1997,2603,10998,0,8405,8248:195783068	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|1:204,36,0:240:99:0|1:195783068_G_T:896,0,8423,1511,8408,9874:195783068	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|1:348,26,0:374:99:0|1:195783068_G_T:263,0,8766,1092,8845,9936:195783068	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|2:348,0,26:374:99:0|1:195783068_G_T:264,1092,9857,0,8765,8687:195783068	8	0	3	5
chr3	195783108	195783108	T	0	exonic	MUC4	.	.	.	.	.	516	925	32	26	23	107	0.0434333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	1867.95	571	chr3	195783108	.	T	C,*	1867.95	.	AC=4,1;AF=0.154,0.038;AN=26;BaseQRankSum=-2.420e-01;DP=7503;ExcessHet=0.0568;FS=11.270;InbreedingCoeff=0.1651;MLEAC=6,1;MLEAF=0.231,0.038;MQ=57.87;MQRankSum=-1.176e+01;QD=2.39;ReadPosRankSum=-3.756e+00;SOR=1.387	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:343,22,0:365:99:0|1:195783068_G_T:103,0,8654,924,8721,9644:195783068	9	0	3	8
chr3	195783319	195783319	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8261T:p.P2754L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	B	0.002	B	.	.	1.000	N	0.55	N	1.52	T	-1.004	T	0.036	T	0.042	0.147	4.788	.	0.073	0.391	3.251	0.007	0.00248915785875	.	.	5.116e-05	0.0007	0	0	0	0	0	0	0.0001537	4	26028	rs377218971	3.941e-05	0.0003	3.813e-05	4.072e-05	0.0003	3.046e-05	2.754e-05	0.0002	0.0001	6.959e-05	0.0003	8.772e-05	3.298e-05	4.486e-05	0.0003	2.789e-05	7.567e-05	1.341e-05	8.02e-05	0.0008	6.954e-05	9.141e-05	9.672e-05	4.165e-05	3.124e-05	3.779e-05	2.449e-05	6.957e-05	0	9.111e-05	0	0	0.0001	0	9.672e-05	0	0	0.01	0.56456	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.52	0.31731	T	0.03	0.13226	N	0.036	0.07673	-1.0044	0.28636	T	0.036	0.15683	T	7	0.03291303	0.01453	T	0.002489	0.04953	T	0.007	0.00512	.	.	0.0954503805726	0.09146	2.5352474446950437E-5	0.00002	.	.	0.540446281433	0.44508	T	.	.	.	-0.349383	0.04766	T	-0.739641	0.03906	T	0.0293901517083702	0.01897	T	0.756024	0.37907	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.22464	B	.;.	.;.	1.984700	0.25217	16.68	0.68429454157064806	0.08656	0.00354	0.01821	N	AEFBI	0.057268	0.10653	N	-1.23382303094891	0.04517	0.2040384	-1.34455204611901	0.03870	0.1814309	1.44252550070371E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	0.275000	0.18461	1.159000	0.24539	0.133000	0.17659	0.000000	0.06391	0.001000	0.17328	0.029000	0.12982	0.3592:0.0:0.6408:0.0	3.251	0.06413	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	0.075	1408.99	349	chr3	195783319	.	GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA	G,AGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA	1408.99	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=2.84;DP=4474;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4738;MLEAC=2,1;MLEAF=0.050,0.025;MQ=53.04;MQRankSum=-1.680e+00;QD=29.35;ReadPosRankSum=1.74;SOR=1.421	GT:AD:DP:GQ:PL	1/1:1,33,0:38:87:1381,87,0,1659,361,3233	18	1	0	1
chr3	195783321	195783321	A	0	exonic	MUC4	.	.	.	.	.	442	1046	17	2	15	36	0.00993848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	2018.88	349	chr3	195783321	.	A	C,*	2018.88	.	AC=1,3;AF=0.038,0.115;AN=26;BaseQRankSum=-6.330e-01;DP=4536;ExcessHet=0.0090;FS=0.891;InbreedingCoeff=0.1362;MLEAC=1,3;MLEAF=0.038,0.115;MQ=56.98;MQRankSum=1.48;QD=4.67;ReadPosRankSum=-7.920e-01;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:1,0,33:38:87:.:.:1381,1659,3233,87,361,0	10	0	1	8
chr3	195783323	195783323	G	0	exonic	MUC4	.	.	.	.	.	0	218	3	0	5	8	0.00683371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	2117.88	340	chr3	195783323	.	G	C,*	2117.88	.	AC=1,3;AF=0.038,0.115;AN=26;BaseQRankSum=-4.523e+00;DP=4466;ExcessHet=0.0090;FS=0.000;InbreedingCoeff=0.1362;MLEAC=1,3;MLEAF=0.038,0.115;MQ=57.00;MQRankSum=1.65;QD=4.87;ReadPosRankSum=0.527;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:1,0,33:38:87:.:.:1381,1659,3233,87,361,0	10	0	1	8
chr3	195783326	195783470	GGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATGATGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTGTATGCTGAGGAAGTGTCGGTGACAGGAAGAGA	0	exonic	MUC4	.	.	.	.	.	434	1017	25	28	18	99	0.0382979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1673.38	262	chr3	195783326	.	GGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATGATGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTGTATGCTGAGGAAGTGTCGGTGACAGGAAGAGA	G,*	1673.38	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.756;DP=3915;ExcessHet=0.0082;FS=28.612;InbreedingCoeff=0.3997;MLEAC=1,3;MLEAF=0.024,0.071;MQ=54.54;MQRankSum=1.49;QD=8.16;ReadPosRankSum=4.44;SOR=2.081	GT:AD:DP:GQ:PL	2/2:5,0,34:39:89:3160,1409,1439,89,97,0	18	0	1	0
chr3	195783327	195783327	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	108.87	262	chr3	195783327	.	G	*,A	108.87	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=0.136;DP=3801;ExcessHet=0.0000;FS=25.966;InbreedingCoeff=0.6901;MLEAC=4,1;MLEAF=0.100,0.025;MQ=54.18;MQRankSum=2.52;QD=0.43;ReadPosRankSum=1.79;SOR=1.790	GT:AD:DP:GQ:PL	1/1:5,34,0:39:89:3160,89,0,2365,247,2400	17	1	1	1
chr3	195783332	195783332	T	0	exonic	MUC4	.	.	.	.	.	445	998	16	0	63	79	0.00795229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	240.71	262	chr3	195783332	.	T	*,C	240.71	.	AC=4,1;AF=0.111,0.028;AN=36;BaseQRankSum=-1.199e+00;DP=3639;ExcessHet=0.0000;FS=34.661;InbreedingCoeff=0.6077;MLEAC=5,1;MLEAF=0.139,0.028;MQ=52.86;MQRankSum=0.066;QD=0.96;ReadPosRankSum=-1.151e+00;SOR=1.972	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:5,34,0:39:89:.:.:3160,89,0,2365,247,2400	15	1	1	3
chr3	195783335	195783335	C	0	exonic	MUC4	.	.	.	.	.	452	969	39	0	62	101	0.0197269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	159.71	262	chr3	195783335	.	C	G,*	159.71	.	AC=1,4;AF=0.028,0.111;AN=36;BaseQRankSum=0.00;DP=3593;ExcessHet=0.0000;FS=18.458;InbreedingCoeff=0.6077;MLEAC=1,5;MLEAF=0.028,0.139;MQ=52.45;MQRankSum=1.21;QD=0.49;ReadPosRankSum=1.07;SOR=1.399	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:1,4,108:113:99:1|1:195783335_C_*:3347,3303,4565,259,160,0:195783335	15	0	0	3
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	1|1:1,108,4:113:99:1|1:195783335_C_*:3342,256,0,3319,179,4610:195783335	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	2|2:0,4,108:112:99:1|1:195783335_C_*:3353,3310,4536,263,161,0:195783335	2	2	1	14
chr3	195783456	195783599	GGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.7981_8124del:p.S2661_T2708del,	.	.	589	869	23	27	14	91	0.0424242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0246	0.0067	0.0367	0.0512	0.0233	0.0302	0.0205	0.0203	.	.	.	.	0.0078	0.0085	0.0073	0.0084	0.0160	0.0077	0.0076	0.0125	0.0120	0.0045	0.0137	0.0177	0.0116	0.0067	0.0160	0.0069	0.0107	0.0117	0.0011	0.0014	0.0007	0.0015	0.0043	0.0005	0.0003	0.0006	0.0004	0	0	0	0	0.0043	0	0	0.0016	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2109.73	37	chr3	195783455	.	CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	C,*	2109.73	.	AC=1,2;AF=0.028,0.056;AN=36;BaseQRankSum=3.04;DP=860;ExcessHet=0.0000;FS=7.159;InbreedingCoeff=0.5173;MLEAC=1,2;MLEAF=0.028,0.056;MQ=46.14;MQRankSum=1.82;QD=12.06;ReadPosRankSum=-4.328e+00;SOR=0.317	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,25:25:99:1|1:195783395_A_*:2944,2154,2026,236,220,0:195783395	16	0	1	3
chr3	195783455	195783599	CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	0	exonic	MUC4	.	.	.	.	.	589	869	23	27	14	91	0.0424242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2109.73	37	chr3	195783455	.	CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	C,*	2109.73	.	AC=1,2;AF=0.028,0.056;AN=36;BaseQRankSum=3.04;DP=860;ExcessHet=0.0000;FS=7.159;InbreedingCoeff=0.5173;MLEAC=1,2;MLEAF=0.028,0.056;MQ=46.14;MQRankSum=1.82;QD=12.06;ReadPosRankSum=-4.328e+00;SOR=0.317	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,25:25:99:1|1:195783395_A_*:2944,2154,2026,236,220,0:195783395	16	0	1	3
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	2/4:0,3,128,0,42:173:99:.:.:11305,10614,10930,1612,1554,855,10812,10787,1629,10956,3790,3946,0,4006,3352	1	1	9	3
chr3	195784445	195784445	A	0	exonic	MUC4	.	.	.	.	.	409	1087	13	0	13	26	0.00594422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	108.94	903	chr3	195784445	.	A	T,*	108.94	.	AC=1,1;AF=0.036,0.036;AN=28;BaseQRankSum=0.524;DP=21993;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.1507;MLEAC=1,1;MLEAF=0.036,0.036;MQ=58.95;MQRankSum=-1.645e+00;QD=0.11;ReadPosRankSum=3.85;SOR=0.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:838,0,136:995:99:.:.:2345,5016,34641,0,31395,36625	12	0	1	7
chr3	195784574	195784575	GC	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	59833.56	472	chr3	195784574	.	GC	G,*	59833.56	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=2.18;DP=11527;ExcessHet=0.0454;FS=2.301;InbreedingCoeff=0.3313;MLEAC=4,1;MLEAF=0.100,0.025;MQ=56.15;MQRankSum=1.54;QD=17.87;ReadPosRankSum=2.75;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:228,639,0:867:99:0|1:195784574_GC_G:21427,0,7115,22507,8768,32458:195784574	16	0	3	1
chr3	195784575	195784575	C	0	exonic	MUC4	.	.	.	.	.	813	569	58	6	76	146	0.057947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	77.83	457	chr3	195784575	.	C	G,*	77.83	.	AC=2,5;AF=0.125,0.313;AN=16;BaseQRankSum=2.15;DP=11392;ExcessHet=0.0295;FS=1.452;InbreedingCoeff=0.1763;MLEAC=2,10;MLEAF=0.125,0.625;MQ=56.55;MQRankSum=8.88;QD=0.03;ReadPosRankSum=5.23;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:214,0,645:860:99:.:.:21596,22666,30310,0,7782,6377	3	1	0	13
chr3	195784576	195784719	GTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGA	0	exonic	MUC4	.	.	.	.	.	534	906	66	8	8	90	0.0432946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	57691.6	410	chr3	195784576	.	GTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGA	G,*	57691.6	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=7.19;DP=12602;ExcessHet=0.0454;FS=0.560;InbreedingCoeff=0.3313;MLEAC=4,1;MLEAF=0.100,0.025;MQ=56.89;MQRankSum=1.55;QD=14.10;ReadPosRankSum=3.14;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:464,622,7:1093:99:0|1:195784574_GC_G:20714,0,14720,21967,15629,40726:195784574	16	0	3	1
chr3	195784580	195784580	T	0	exonic	MUC4	.	.	.	.	.	527	898	72	9	16	106	0.04772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	71.44	410	chr3	195784580	.	T	C,*	71.44	.	AC=2,5;AF=0.056,0.139;AN=36;DP=12589;ExcessHet=0.0090;FS=0.560;InbreedingCoeff=0.3872;MLEAC=1,6;MLEAF=0.028,0.167;MQ=60.00;QD=0.02;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:464,0,622:1093:99:0|1:195784574_GC_G:20714,22525,40019,0,16284,14720:195784574	13	1	0	3
chr3	195784583	195784583	C	0	exonic	MUC4	.	.	.	.	.	522	904	72	9	15	105	0.0474183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	71.59	410	chr3	195784583	.	C	G,*	71.59	.	AC=2,5;AF=0.056,0.139;AN=36;DP=12544;ExcessHet=0.0090;FS=0.560;InbreedingCoeff=0.3654;MLEAC=1,6;MLEAF=0.028,0.167;MQ=60.00;QD=0.02;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:464,0,622:1093:99:0|1:195784574_GC_G:20714,22525,40019,0,16284,14720:195784574	13	1	0	3
chr3	195784652	195784652	C	0	exonic	MUC4	.	.	.	.	.	842	358	133	132	57	454	0.356694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5294	123606.13	363	chr3	195784652	.	C	G,*	123606.13	.	AC=16,4;AF=0.471,0.118;AN=34;BaseQRankSum=1.37;DP=11220;ExcessHet=2.7716;FS=0.566;InbreedingCoeff=-0.1110;MLEAC=19,5;MLEAF=0.559,0.147;MQ=55.09;MQRankSum=-1.168e+01;QD=15.32;ReadPosRankSum=-3.180e-01;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:386,0,695:1083:99:.:.:21413,23178,40254,0,13616,10771	2	3	8	4
chr3	195784654	195784654	T	0	exonic	MUC4	.	.	.	.	.	811	382	134	136	59	465	0.347009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	117318.88	370	chr3	195784654	.	T	C,*	117318.88	.	AC=16,3;AF=0.471,0.088;AN=34;BaseQRankSum=1.41;DP=11323;ExcessHet=1.4183;FS=0.000;InbreedingCoeff=-0.0051;MLEAC=19,4;MLEAF=0.559,0.118;MQ=54.70;MQRankSum=-1.241e+01;QD=16.09;ReadPosRankSum=-3.410e-01;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:386,0,695:1083:99:.:.:21413,23178,40254,0,13616,10771	3	3	8	4
chr3	195784655	195784655	C	0	exonic	MUC4	.	.	.	.	.	812	379	133	136	62	467	0.348237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4706	108863.73	369	chr3	195784655	.	C	*,T	108863.73	.	AC=4,15;AF=0.118,0.441;AN=34;BaseQRankSum=2.58;DP=11307;ExcessHet=1.4183;FS=0.000;InbreedingCoeff=-0.0051;MLEAC=5,17;MLEAF=0.147,0.500;MQ=54.71;MQRankSum=-1.230e+01;QD=14.80;ReadPosRankSum=-4.320e-01;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:386,695,0:1083:99:.:.:21413,0,10771,23178,13616,40254	3	0	1	4
chr3	195784719	195784719	A	0	exonic	MUC4	.	.	.	.	.	956	119	187	211	49	658	0.719008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6333	181902.03	501	chr3	195784719	.	A	G,*	181902.03	.	AC=18,3;AF=0.600,0.100;AN=30;BaseQRankSum=-5.120e-01;DP=14927;ExcessHet=7.4688;FS=0.000;InbreedingCoeff=-0.1407;MLEAC=23,4;MLEAF=0.767,0.133;MQ=57.00;MQRankSum=-5.969e+00;QD=19.43;ReadPosRankSum=-2.732e+00;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:386,0,695:1083:99:.:.:21413,23178,40254,0,13616,10771	0	4	8	6
chr3	195785315	195785315	-	GAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.I2089Vfs*931	.	.	542	16	26	927	11	1891	0.983264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.337e-05	0	0	0	0.0005	7.837e-05	0	0	1.29e-05	2	154602	rs751858617	0.0001	0.0010	0.0001	0.0002	0.0009	0.0001	0.0001	0.0006	0.0006	0.0009	8.604e-05	0	2.823e-05	0.0005	0.0002	9.85e-05	0.0002	7.712e-05	0.0004	0.0010	0.0004	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	7.172e-05	0	0	0.0001	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	501656.58	740	chr3	195785315	.	T	C,TGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	501656.58	.	AC=40,2;AF=0.952,0.048;AN=42;BaseQRankSum=1.87;DP=15694;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=57.82;MQRankSum=-3.320e-01;QD=34.25;ReadPosRankSum=-4.420e-01;SOR=0.107	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,826,0:827:99:.:.:22709,2229,0,22711,2235,22718	0	19	0	0
chr3	195785374	195785374	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	431121.8	754	chr3	195785374	.	T	C,*	431121.8	.	AC=36,1;AF=0.857,0.024;AN=42;BaseQRankSum=1.92;DP=14531;ExcessHet=1.1607;FS=1.262;InbreedingCoeff=-0.1351;MLEAC=36,1;MLEAF=0.857,0.024;MQ=56.84;MQRankSum=-6.000e-01;QD=31.27;ReadPosRankSum=1.39;SOR=0.348	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,453,0:455:99:.:.:14324,1357,0,14322,1357,14321	0	15	5	0
chr3	195788517	195788564	GTGACCTGTGGATACTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3016_3063del:p.A1006_H1021del	.	.	448	1065	6	0	3	9	0.00280899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0015	0.0042	0.0017	0.0022	0.0042	0	0.0004	.	.	.	rs757424802	0.0008	0.0029	0.0009	0.0008	0.0030	0.0008	0.0008	0.0016	0.0012	0.0004	0.0014	0.0005	0.0016	0.0004	0.0030	0.0008	0.0007	0.0006	0.0004	0.0009	0.0004	0.0005	0.0014	0.0003	0.0003	0.0004	0.0003	0.0006	0	0.0010	0	0.0014	0	0	0.0002	0.0013	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5331.07	399	chr3	195788516	.	TGTGACCTGTGGATACTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGC	T,*	5331.07	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=2.15;DP=7802;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=2,3;MLEAF=0.111,0.167;MQ=59.18;MQRankSum=-5.023e+00;QD=4.78;ReadPosRankSum=0.456;SOR=0.693	GT:AD:DP:GQ:PL	0/1:236,152,0:388:99:5339,0,8920,5580,9161,15013	6	0	1	12
chr3	195788516	195788564	TGTGACCTGTGGATACTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGC	0	exonic	MUC4	.	.	.	.	.	448	1065	6	0	3	9	0.00280899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5331.07	399	chr3	195788516	.	TGTGACCTGTGGATACTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGC	T,*	5331.07	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=2.15;DP=7802;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=2,3;MLEAF=0.111,0.167;MQ=59.18;MQRankSum=-5.023e+00;QD=4.78;ReadPosRankSum=0.456;SOR=0.693	GT:AD:DP:GQ:PL	0/1:236,152,0:388:99:5339,0,8920,5580,9161,15013	6	0	1	12
chr3	195788539	195788541	GGG	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3039_3041del:p.P1014del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.009e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.099e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	58.2	384	chr3	195788538	.	AGGG	A,*	58.2	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=-1.508e+00;DP=8339;ExcessHet=0.6776;FS=0.531;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=0.05;ReadPosRankSum=-1.431e+00;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:236,0,152:388:99:.:.:5339,5580,15013,0,9161,8920	17	0	1	0
chr3	195788538	195788541	AGGG	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	58.2	384	chr3	195788538	.	AGGG	A,*	58.2	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=-1.508e+00;DP=8339;ExcessHet=0.6776;FS=0.531;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=0.05;ReadPosRankSum=-1.431e+00;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:236,0,152:388:99:.:.:5339,5580,15013,0,9161,8920	17	0	1	0
chr3	195788543	195788543	-	GTC	exonic;splicing	MUC4;MUC4	NM_001322468:exon3:c.3035+2->GAC	nonframeshift insertion	MUC4:NM_018406:exon2:c.3036_3037insGAC:p.T1012_S1013insD	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.099e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.619e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	65.42	350	chr3	195788543	.	T	TGTC,*	65.42	.	AC=1,3;AF=0.071,0.214;AN=14;BaseQRankSum=-3.210e-01;DP=7567;ExcessHet=0.6776;FS=0.531;InbreedingCoeff=-0.3548;MLEAC=2,6;MLEAF=0.143,0.429;MQ=60.00;MQRankSum=0.00;QD=0.06;ReadPosRankSum=-1.811e+00;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:236,0,152:388:99:.:.:5339,5580,15013,0,9161,8920	3	0	1	14
chr3	195788543	195788543	T	0	exonic;splicing	MUC4;MUC4	NM_001322468:exon3:c.3035+2A>0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	65.42	350	chr3	195788543	.	T	TGTC,*	65.42	.	AC=1,3;AF=0.071,0.214;AN=14;BaseQRankSum=-3.210e-01;DP=7567;ExcessHet=0.6776;FS=0.531;InbreedingCoeff=-0.3548;MLEAC=2,6;MLEAF=0.143,0.429;MQ=60.00;MQRankSum=0.00;QD=0.06;ReadPosRankSum=-1.811e+00;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:236,0,152:388:99:.:.:5339,5580,15013,0,9161,8920	3	0	1	14
chr3	195868217	195868217	G	A	exonic	TNK2	.	nonsynonymous SNV	TNK2:NM_001308046:exon12:c.C2132T:p.P711L	.	.	.	.	.	.	.	.	.	.	.	2030693	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.0	B	0.371	N	1.000	N	0.55	N	0.9	T	-1.065	T	0.051	T	0.109	0.415	6.251	-5.12	-0.724	-0.289	1.692	0.024	0.0122304283028	.	.	6.712e-05	0	0.0003	0.0003	0	3.511e-05	0	0	5.17e-05	8	154602	rs769773996	7.357e-05	7.456e-05	7.117e-05	7.598e-05	0.0008	6.212e-05	5.771e-05	0.0006	0.0005	2.992e-05	0.0002	0.0002	0.0008	0	0.0002	4.41e-05	0.0002	3.485e-05	7.893e-05	7.881e-05	5.143e-05	0.0001	0.0001	4.501e-05	3.515e-05	3.252e-05	1.917e-05	9.664e-05	0	0.0001	0.0003	0	0	0	5.887e-05	0.0005	0	0.816	0.04657	T	0.409	0.14588	T	0.0	0.02946	B	0.0	0.01387	B	0.371347	0.04364	N	1.384520	1	0.08975	N	1.1	0.28011	L	0.9	0.45248	T	-1.02	0.26843	N	0.216	0.25867	-1.0650	0.10549	T	0.051	0.21650	T	10	0.05894807	0.07011	T	0.01223	0.30616	T	0.024	0.04979	0.237	0.16760	0.560228584591	0.55684	0.1033322515726728	0.10263	0.00631938553498	0.00551	0.445383250713	0.31313	T	0.020902	0.49759	T	-0.534931	0.00359	T	-0.704446	0.05585	T	0.0147406577131667	0.00308	T	0.589941	0.21689	T	0.017419519	0.00271	0.022636848	0.00284	0.017419519	0.00271	0.022636848	0.00284	-4.773	0.34275	T	.	.	0.053	0.00658	B	.;.;.;.	.;.;.;.	-0.876202	0.00966	0.038	0.80454241376430957	0.13210	0.00929	0.03605	N	AEFDBI	0.030196	0.02993	N	-1.35591913788508	0.03064	0.1362935	-1.38742416817054	0.03385	0.1577993	0.927413608727467	0.26888	0.706548	0.73137	0	0.724815	0.89359	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	5.08	-5.12	0.02674	-1.762000	0.01902	-0.614000	0.08207	-1.915000	0.00511	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.1501:0.3485:0.2725:0.2288	1.692	0.02682	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	0.02381	1685.98	59	chr3	195868217	.	G	A	1685.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=1565;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.88;ReadPosRankSum=-1.611e+00;SOR=0.648	GT:AD:DP:GQ:PL	0/1:88,67:155:99:1700,0,2164	20	0	1	0
chr3	195868688	195868688	C	A	exonic	TNK2	.	nonsynonymous SNV	TNK2:NM_001308046:exon12:c.G1661T:p.S554I	.	.	412	1109	1	0	0	1	0.000450653	.	.	1479861	not_provided|TNK2-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.995	D	0.854	P	0.001	N	1.000	D	0.55	N	2.88	T	-0.470	T	0.322	T	0.321	1.275	10.16	4.24	1.115	1.124	7.901	0.019	0.193329591814	0.0014	0.000599042	0.0010	0.0005	0.0007	0	0	0.0015	0	0.0004	0.000912	141	154602	rs143787673	0.0016	0.0016	0.0016	0.0016	0.0020	0.0016	0.0016	0.0019	0.0019	0.0003	0.0009	0.0002	0	5.33e-05	0.0011	0.0020	0.0017	0.0002	0.0010	0.0010	0.0010	0.0010	0.0016	0.0009	0.0008	0.0014	0.0013	0.0005	0	0.0011	0.0003	0	0	0	0.0016	0.0009	0.0004	0.048	0.65419	D	0.395	0.23164	T	0.169	0.43819	B	0.021	0.32896	B	0.001334	0.39379	N	0.277928	0.991875	0.25813	N	1.245	0.31408	L	2.88	0.74689	T	-1.21	0.42763	N	0.529	0.55799	-0.4703	0.69714	T	0.322	0.69099	T	10	0.01833117	0.00398	T	0.19333	0.86297	D	0.056	0.15993	.	.	0.931693638153	0.93099	0.27595788354954365	0.27508	0.00615469793322	0.00540	0.569695830345	0.48634	T	0.021808	0.38417	T	-0.343328	0.05160	T	-0.279173	0.46889	T	0.0158065043264269	0.00369	T	0.918208	0.70605	D	0.081235856	0.18654	0.073514126	0.15982	0.081235856	0.18654	0.073514126	0.15982	-6.361	0.49204	T	.	.	0.135	0.34449	B	.;.;.;.;.	.;.;.;.;.	2.941767	0.39120	20.9	0.98559044924875805	0.42948	0.88124	0.47915	D	AEFDBI	0.411784	0.48212	N	-0.13815450014847	0.35739	2.056738	-0.0634576475732439	0.36913	2.154436	0.901399826277156	0.26100	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.15	4.24	0.49486	1.233000	0.32250	5.907000	0.50968	0.547000	0.25779	0.327000	0.25564	1.000000	0.68203	0.892000	0.42986	0.0:0.7492:0.1643:0.0865	7.901	0.28898	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	0.02381	1635.98	72	chr3	195868688	.	C	A	1635.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.806e+00;DP=1414;ExcessHet=0.0000;FS=8.461;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.30;ReadPosRankSum=-3.140e-01;SOR=0.271	GT:AD:DP:GQ:PL	0/1:59,64:123:99:1650,0,1525	20	0	1	0
chr4	1004343	1004343	T	C	exonic	IDUA	.	nonsynonymous SNV	IDUA:NM_001363576:exon13:c.T1516C:p.Y506H	Mucopolysaccharidosis Ih, Autosomal recessive;Mucopolysaccharidosis Ih/s, Autosomal recessive;Mucopolysaccharidosis Is, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.98	D	0.000	D	0.993	D	1.91	M	-1.03	T	0.090	D	0.557	D	0.646	2.368	13.88	5.55	2.133	1.710	12.124	0.395	0.241561300844	.	.	8.387e-06	0	0	0	0	0	0	6.068e-05	6.5e-06	1	154602	rs747181335	1.37e-06	1.368e-06	1.363e-06	1.377e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.657e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.30097	T	0.0	0.92824	D	1.0	0.90584	D	0.98	0.74843	D	0.000010	0.62929	D	0.068291	0.992757	0.41734	D	2.3	0.65703	M	-1.03	0.76430	T	-2.34	0.53577	N	0.366	0.40765	0.090	0.83998	D	0.557	0.83845	D	10	0.46915224	0.59755	T	0.241561	0.88722	D	0.395	0.71004	.	.	0.818986813389	0.81727	0.8529289048587597	0.85254	0.862198414937	0.69012	0.634007573128	0.57713	T	0.477364	0.80763	T	-0.0371229	0.46376	T	-0.109573	0.62647	T	0.746490776538849	0.43090	D	0.727827	0.34232	T	0.37884805	0.59233	0.18747589	0.41982	0.37884805	0.59234	0.18747589	0.41982	-4.37	0.29147	T	0.5075353242325261	0.58176	0.270	0.50389	B	.;.	.;.	3.022640	0.40463	21.2	0.99200245068054749	0.55261	0.80170	0.39880	D	AEFBI	0.096763	0.19528	N	0.0384888411291798	0.43615	2.650882	-0.0259251952680616	0.38547	2.272652	0.945695808373697	0.27672	0.706298	0.61202	0	0.709663	0.81188	0	0.673471	0.61138	0	0.63947	0.58350	0	.	.	5.55	5.55	0.83298	2.365000	0.43849	.	.	0.661000	0.55757	0.246000	0.24809	0.732000	0.26423	0.002000	0.04165	0.0:0.0:0.0:1.0	12.124	0.53207	856	0.34373	.;.	.	.	.	.	.	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	795.98	37	chr4	1004343	.	T	C	795.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.700e-02;DP=779;ExcessHet=0.0000;FS=2.276;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=-1.157e+00;SOR=0.402	GT:AD:DP:GQ:PL	0/1:26,32:58:99:810,0,653	20	0	1	0
chr4	1025268	1025268	-	CACA	exonic	FGFRL1	.	frameshift insertion	FGFRL1:NM_021923:exon6:c.1436_1437insCACA:p.S486Tfs*67	.	.	414	774	328	1	5	335	0.175719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	734.34	34	chr4	1025266	.	CCA	C,CCACACA	734.34	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-9.200e-02;DP=1325;ExcessHet=4.7172;FS=1.630;InbreedingCoeff=-0.2727;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.06;ReadPosRankSum=0.069;SOR=0.760	GT:AD:DP:GQ:PL	0/1:74,8,0:82:40:40,0,2348,263,2372,2635	12	0	8	0
chr4	1403786	1403786	C	A	exonic	NKX1-1	.	nonsynonymous SNV	NKX1-1:NM_001290079:exon2:c.G493T:p.A165S,	.	.	356	1160	5	1	0	7	0.00300817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	.	.	.	.	.	.	.	.	.	.	-2.42	D	-0.427	T	0.459	T	0.123	1.080	9.407	0.089	0.494	-1.018	5.274	0.120	.	.	0.00479233	0.0055	0.0088	0	0	0	0.0089	0	0.0044	0.0034217	529	154602	rs532356178	0.0098	0.0090	0.0104	0.0094	0.0136	0.0096	0.0095	0.0132	0.0131	0.0030	0.0062	0.0016	3.591e-05	0.0058	0.0023	0.0136	0.0092	0.0044	0.0089	0.0089	0.0096	0.0082	0.0149	0.0085	0.0084	0.0142	0.0138	0.0028	0.0022	0.0077	0.0012	0	0.0061	0	0.0149	0.0076	0.0048	0.098	0.30800	T	0.819	0.03840	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.42	0.88611	D	0.12	0.05604	N	0.089	0.06720	-0.4274	0.71150	T	0.459	0.79004	T	5	0.004193127	0.00083	T	.	.	.	0.120	0.33359	.	.	0.660021366681	0.65717	0.09096303956255702	0.09029	1.00729817364	0.74630	.	.	.	0.008981	0.08204	T	-0.456665	0.01031	T	-0.414464	0.31711	T	0.00158348724991542	0.00016	T	0.275872	0.04729	T	0.044643436	0.07173	0.063569166	0.12613	0.044643436	0.07172	0.063569166	0.12612	-4.149	0.26009	T	.	.	0.080	0.07937	B	.	.	0.960583	0.13370	9.876	0.97423002471614917	0.33885	0.04022	0.09455	N	AEFDBCI	0.029227	0.02720	N	-0.559413893944103	0.20190	1.062508	-0.680684683238406	0.17444	0.9275808	0.964911884077596	0.28794	0.59774	0.34471	0	0.547309	0.14657	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	3.67	0.089	0.13766	-2.091000	0.01443	1.390000	0.26108	-0.336000	0.05739	0.000000	0.06391	0.824000	0.27153	0.003000	0.05239	0.4386:0.4433:0.0:0.1181	5.274	0.14954	866	0.32446	.	MAEA|MAEA	Nerve_Tibial|Thyroid	MAEA	Lung	.	Likely benign	0	0	0	0	0	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	1690.98	35	chr4	1403786	.	C	A	1690.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.110e+00;DP=982;ExcessHet=0.0000;FS=0.613;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=-3.640e-01;SOR=0.773	GT:AD:DP:GQ:PL	0/1:73,74:147:99:1705,0,1750	20	0	1	0
chr4	2939339	2939339	C	T	exonic	NOP14	.	nonsynonymous SNV	NOP14:NM_001291978:exon17:c.G2323A:p.E775K	.	.	.	.	.	.	.	.	.	.	.	2337013	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.998	D	0.866	P	0.000	D	1.000	D	2.34	M	1.53	T	-0.760	T	0.169	T	0.389	4.531	24.4	4.61	1.537	6.620	14.340	0.208	0.0577518247276	.	.	0.0002	9.671e-05	0.0005	0	0	0.0002	0	0	0.0001746	27	154602	rs145832505	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	2.987e-05	0.0004	0.0021	0	0	0	0.0002	0.0003	1.159e-05	0.0001	0.0001	0.0002	0.0001	0.0004	9.739e-05	8.254e-05	0.0002	0.0001	2.406e-05	0	0.0004	0.0009	0	0	0	0.0002	0	0	0.014	0.53172	D	0.161	0.31326	T	0.998	0.73220	D	0.866	0.61580	P	0.000001	0.62929	D	0.056782	0.999946	0.81001	D	2.8	0.81625	M	1.53	0.30401	T	-2.49	0.54217	N	0.642	0.65416	-0.7598	0.57416	T	0.169	0.50842	T	10	0.30424243	0.47950	T	0.057752	0.67077	D	0.208	0.49714	.	.	0.647459595057	0.64453	0.3355958821632411	0.33472	0.443937874564	0.44312	0.670407116413	0.62896	T	0.016615	0.13699	T	-0.29483	0.09157	T	-0.327129	0.41789	T	0.40052729845047	0.28962	T	0.905909	0.66829	D	0.32739422	0.55257	0.26518616	0.52347	0.32739422	0.55257	0.26518616	0.52346	-9.118	0.68453	D	.	.	0.677	0.72018	P	.;.	.;.	4.435335	0.68814	25.3	0.99876810534798632	0.95328	0.98951	0.89073	D	AEFDGBCI	0.773365	0.70740	D	0.681310829378171	0.78408	6.865586	0.641515126506563	0.77982	6.785092	0.999999999983443	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.44	4.61	0.56724	6.524000	0.73700	7.536000	0.59999	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.732000	0.35165	0.0:0.9292:0.0:0.0708	14.340	0.66179	641	0.64016	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2102.98	35	chr4	2939339	.	C	T	2102.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.173;DP=901;ExcessHet=0.0000;FS=3.869;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.66;ReadPosRankSum=0.013;SOR=1.038	GT:AD:DP:GQ:PL	0/1:70,84:154:99:2117,0,1650	20	0	1	0
chr4	3004284	3004284	G	T	exonic	GRK4	.	nonsynonymous SNV	GRK4:NM_001004056:exon4:c.G297T:p.L99F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.679	P	0.446	B	0.625	U	1.000	N	1.7	L	4.53	T	-0.963	T	0.010	T	0.097	1.441	10.76	-0.17	0.019	0.047	4.116	0.037	0.00372910822303	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1438445075	6.842e-07	6.841e-07	0	1.375e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.194	0.28120	T	0.004	0.41373	B	0.006	0.45959	B	0.624687	0.10744	U	0.774008	1	0.08975	N	2.14	0.59869	M	4.53	0.01980	T	-0.43	0.14390	N	0.079	0.16864	-0.9633	0.38547	T	0.010	0.03811	T	10	0.09915581	0.17975	T	0.003729	0.08651	T	0.037	0.09474	0.361	0.36548	0.564948366329	0.56158	0.16420081605497705	0.16340	0.160582675934	0.18125	0.220410421491	0.01334	T	0.142324	0.47785	T	-0.318087	0.07056	T	-0.694687	0.06121	T	0.0480153933167458	0.05146	T	0.275672	0.04719	T	0.3134006	0.54078	0.35175318	0.60764	0.3134006	0.54078	0.35175318	0.60764	-6.259	0.48603	T	.	.	0.096	0.15520	B	.;.;.;.	.;.;.;.	0.974226	0.13511	10.04	0.98065333725154946	0.37983	0.19918	0.20845	N	AEFDBIJ	0.106917	0.21317	N	-0.800636302531212	0.13294	0.6538818	-0.937112183391586	0.11224	0.5704404	0.0155694073131632	0.12729	0.516011	0.20929	0	0.59043	0.45803	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.65	-0.17	0.12681	0.422000	0.21016	1.275000	0.25315	-0.135000	0.12811	0.000000	0.06391	0.028000	0.21151	0.000000	0.00833	0.3298:0.3319:0.3384:0.0	4.116	0.09553	628	0.65206	.;RGS domain|RGS domain|RGS 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	1152.98	35	chr4	3004284	.	G	T	1152.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.930e-01;DP=850;ExcessHet=0.0000;FS=1.582;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=-2.330e-01;SOR=0.847	GT:AD:DP:GQ:PL	0/1:59,46:105:99:1167,0,1570	20	0	1	0
chr4	3074882	3074882	-	CAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAG:p.Q38_P39insQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:0,0,19,0,0,0,0:37:33:.:.:730,741,787,0,52,33,741,787,52,787,741,787,52,787,787,741,787,52,787,787,787,741,787,52,787,787,787,787	3	1	1	0
chr4	3074880	3074882	CAG	-	exonic	HTT	.	nonframeshift deletion	HTT:NM_002111:exon1:c.55_57del:p.Q38del,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:0,0,19,0,0,0,0:37:33:.:.:730,741,787,0,52,33,741,787,52,787,741,787,52,787,787,741,787,52,787,787,787,741,787,52,787,787,787,787	3	1	1	0
chr4	3074882	3074882	-	CAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAG:p.Q38_P39insQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:0,0,19,0,0,0,0:37:33:.:.:730,741,787,0,52,33,741,787,52,787,741,787,52,787,787,741,787,52,787,787,787,741,787,52,787,787,787,787	3	1	1	0
chr4	3074882	3074882	-	CAGCAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAGCAG:p.Q38_P39insQQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:0,0,19,0,0,0,0:37:33:.:.:730,741,787,0,52,33,741,787,52,787,741,787,52,787,787,741,787,52,787,787,787,741,787,52,787,787,787,787	3	1	1	0
chr4	3074882	3074882	-	CAGCAGCAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAGCAGCAG:p.Q38_P39insQQQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:0,0,19,0,0,0,0:37:33:.:.:730,741,787,0,52,33,741,787,52,787,741,787,52,787,787,741,787,52,787,787,787,741,787,52,787,787,787,787	3	1	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.01	B	0.01	B	0.003	N	0.997	D	1.87	L	.	.	-0.870	T	0.178	T	0.274	3.086	16.31	1.7	0.426	3.325	6.857	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	7325.55	151	chr4	6862306	.	T	C	7325.55	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.348e+00;DP=3019;ExcessHet=54.0936;FS=242.021;InbreedingCoeff=-0.9914;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.50;ReadPosRankSum=0.996;SOR=13.535	GT:AD:DP:GQ:PL	0/1:107,40:147:99:438,0,2428	0	0	21	0
chr4	42039011	42039011	T	C	exonic	SLC30A9	.	nonsynonymous SNV	SLC30A9:NM_006345:exon8:c.T695C:p.F232S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.645	P	0.25	B	0.000	D	1.000	D	1.04	L	1.84	T	-1.098	T	0.043	T	0.786	2.544	14.47	5.37	2.257	5.378	11.696	0.115	0.0125198680169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.174	0.30045	T	0.645	0.40526	P	0.25	0.39011	B	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.2	0.62015	M	1.84	0.24656	T	-1.09	0.28290	N	0.568	0.59138	-1.0981	0.04328	T	0.043	0.18410	T	10	0.4951425	0.61222	T	0.01252	0.31165	T	0.115	0.32236	0.439	0.49321	0.437527004654	0.43370	0.7668586174437748	0.76634	0.78260429612	0.65368	0.686023592949	0.65134	T	0.052087	0.29062	T	0.0662583	0.60391	T	-0.142601	0.59892	T	0.878836452960968	0.52878	D	0.835616	0.50622	T	0.1819227	0.39387	0.1431733	0.34035	0.1819227	0.39386	0.1431733	0.34034	-9.755	0.72432	D	.	.	0.516	0.65319	A	.	.	4.172668	0.62756	24.5	0.99184322878632047	0.54789	0.94376	0.60968	D	AEFBI	0.579767	0.58044	D	0.1077341592006	0.46823	2.916879	0.236566473119768	0.51888	3.367644	0.205327170916829	0.18173	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.633917	0.49826	0	.	.	5.37	5.37	0.76949	4.870000	0.62730	7.785000	0.68758	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.0:0.0:0.0:1.0	11.696	0.50808	513	0.74941	.	.	.	.	.	.	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	292.98	34	chr4	42039011	.	T	C	292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.70;DP=720;ExcessHet=0.0000;FS=5.347;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.62;ReadPosRankSum=0.325;SOR=1.700	GT:AD:DP:GQ:PL	0/1:22,12:34:99:307,0,479	20	0	1	0
chr4	48494114	48494114	C	T	exonic	ZAR1	.	nonsynonymous SNV	ZAR1:NM_175619:exon4:c.C1145T:p.T382M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.841	P	0.000	D	0.954	D	1.245	L	1.91	T	-1.040	T	0.092	T	0.232	1.258	10.10	3.97	0.764	3.782	11.922	0.142	0.0206475132881	.	0.000199681	2.485e-05	9.679e-05	8.711e-05	0	0	1.505e-05	0	0	2.59e-05	4	154602	rs149279464	6.159e-06	6.156e-06	4.085e-06	8.255e-06	4.476e-05	2.9e-06	2.1e-06	7.42e-06	2.78e-06	2.988e-05	4.476e-05	0	0	0	0	4.498e-06	1.656e-05	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	6.537e-05	2.18e-06	8.2e-07	.	.	2.407e-05	0	6.537e-05	0	0	0	0	0	0	0	0.032	0.44694	D	0.041	0.50514	D	0.999	0.77913	D	0.841	0.60228	P	0.000010	0.62929	D	0.065510	0.953586	0.37837	D	0.695	0.17993	N	1.91	0.23283	T	-3.93	0.73267	D	0.176	0.18920	-1.0403	0.17223	T	0.092	0.35146	T	10	0.22831538	0.39733	T	0.020648	0.43286	T	0.142	0.37995	.	.	0.15556083564	0.15200	0.23048999020686656	0.22963	0.957206127568	0.72872	0.401137888432	0.25226	T	0.292654	0.66537	T	-0.338968	0.05460	T	-0.543152	0.17989	T	0.487845897674561	0.32185	T	0.589341	0.21633	T	0.09322739	0.21891	0.20888872	0.45210	0.09322739	0.21891	0.20888872	0.45209	-12.631	0.87787	D	.	.	0.189	0.40714	B	.	.	3.367260	0.46514	22.3	0.9693469805169721	0.31672	0.87792	0.47454	D	AEFDBCI	0.366319	0.45418	N	0.0982133758493643	0.46378	2.879174	-0.00244710865352052	0.39606	2.350827	0.999999924145421	0.74766	0.549168	0.22868	0	0.547309	0.14657	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.69	3.97	0.45241	3.848000	0.55612	2.752000	0.34542	-0.171000	0.11205	0.998000	0.41325	0.994000	0.32194	0.045000	0.14751	0.0:0.8598:0.0:0.1402	11.922	0.52078	177	0.93145	Zinc-binding domain|Zinc-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1373.98	34	chr4	48494114	.	C	T	1373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=798;ExcessHet=0.0000;FS=5.106;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=-2.211e+00;SOR=1.220	GT:AD:DP:GQ:PL	0/1:51,52:103:99:1388,0,1177	20	0	1	0
chr4	69107190	69107190	G	C	exonic	UGT2B7	.	nonsynonymous SNV	UGT2B7:NM_001074:exon4:c.G1018C:p.D340H	.	.	451	1070	1	0	0	1	0.000467071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.988	D	0.928	D	0.020	U	0.995	N	2.37	M	0.12	T	-0.753	T	0.330	T	0.146	1.812	12.02	1.14	0.559	1.056	4.501	0.125	0.00979825427496	.	0.000599042	0.0003	0	0.0002	0	0	7.498e-05	0.0022	0.0018	0.0002781	43	154602	rs569519019	0.0002	0.0002	9.837e-05	0.0002	0.0020	0.0001	0.0001	0.0018	0.0017	0	2.265e-05	0	0	0	0.0007	4.148e-05	0.0002	0.0020	7.885e-05	7.875e-05	6.427e-05	9.409e-05	0.0017	4.497e-05	3.512e-05	0.0008	0.0006	0	0	0	0	0	0	0	5.883e-05	0	0.0017	0.024	0.53900	D	0.083	0.48855	T	0.067	0.62325	B	0.028	0.66279	B	0.019897	0.27158	U	0.333380	0.995139	0.23364	N	2.825	0.82220	M	0.12	0.62318	T	-3.99	0.73893	D	0.307	0.38541	-0.7532	0.57768	T	0.330	0.69758	T	9	0.030247599	0.01151	T	0.009798	0.25563	T	0.125	0.34456	0.565	0.68633	0.250039746154	0.24611	0.30195788580799326	0.30108	0.100278492739	0.11331	0.404002577066	0.25626	T	0.418577	0.77087	T	-0.44293	0.01243	T	-0.422245	0.30818	T	0.183908380198549	0.19478	T	0.535046	0.24680	T	0.2869687	0.51709	0.24282393	0.49712	0.2869687	0.51709	0.24282393	0.49711	-8.659	0.65478	D	.	.	0.226	0.45847	B	.;.;.	.;.;.	2.138755	0.27230	17.39	0.99209691328429361	0.55533	0.59278	0.30871	D	AEFI	0.764126	0.70102	D	-0.270146558331409	0.30306	1.688631	-0.343704543306464	0.26704	1.47676	0.0153704420608047	0.12705	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.93	1.14	0.19817	0.834000	0.27171	.	.	0.368000	0.20244	0.165000	0.23867	0.000000	0.08366	0.532000	0.29753	0.4363:0.0:0.5637:0.0	4.501	0.11275	679	0.60090	.;.;.	.	.	.	.	.	Uncertain significance	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	1892.98	56	chr4	69107190	.	G	C	1892.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.919;DP=1086;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=1.45;SOR=0.706	GT:AD:DP:GQ:PL	0/1:89,74:163:99:1907,0,2234	20	0	1	0
chr4	75516961	75516961	T	G	exonic	THAP6	.	nonsynonymous SNV	THAP6:NM_001317791:exon3:c.T270G:p.D90E	.	.	441	1080	1	0	0	1	0.000462749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	B	0.012	B	0.003	N	0.998	N	0.265	N	-3.88	D	-0.432	T	0.557	D	0.104	0.907	8.687	-0.446	-0.112	0.358	2.389	0.227	0.0256727871315	.	.	.	.	.	.	.	.	.	.	.	.	.	rs143920365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.576e-06	6.568e-06	1.286e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.238	0.19710	T	0.317	0.21011	T	0.002	0.09854	B	0.012	0.16012	B	0.003199	0.35300	N	0.196550	0.998727	0.22567	N	0.77	0.19370	N	-3.88	0.95953	D	-0.93	0.24898	N	0.207	0.29889	-0.4320	0.71001	T	0.557	0.83854	D	9	0.11737943	0.22166	T	0.025673	0.48627	D	0.227	0.52620	0.415	0.45380	0.286081765059	0.28222	0.07958313866828533	0.07893	0.178201552963	0.20047	0.449294269085	0.31847	T	0.20593	0.68011	T	-0.037707	0.46287	T	-0.29194	0.45571	T	0.105341888964176	0.12934	T	0.650435	0.32820	T	0.06105311	0.12599	0.043948464	0.05585	0.06105311	0.12598	0.043948464	0.05585	-4.801	0.37463	T	.	.	0.121	0.34049	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.099034	0.14832	11.37	0.87865257005689446	0.17539	0.44410	0.27312	N	AEFBI	0.097878	0.19733	N	-0.650967224095488	0.17432	0.8969746	-0.528689769911561	0.21375	1.156033	0.999385585773059	0.39415	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.09	-0.446	0.11627	0.346000	0.19737	1.028000	0.23458	0.665000	0.62972	0.869000	0.30776	1.000000	0.68203	0.998000	0.85391	0.1432:0.0833:0.2972:0.4763	2.389	0.04107	939	0.14249	.;.;THAP-type zinc finger|THAP-type zinc finger;.;.;.;.;.;THAP-type zinc finger|THAP-type zinc finger	.	.	.	.	.	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	802.98	33	chr4	75516961	.	T	G	802.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.038;DP=747;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=0.295;SOR=0.646	GT:AD:DP:GQ:PL	0/1:33,32:65:99:817,0,806	20	0	1	0
chr4	76163299	76163299	T	C	exonic	SCARB2	.	nonsynonymous SNV	SCARB2:NM_001204255:exon8:c.A895G:p.I299V	Epilepsy, progressive myoclonic 4, with or without renal failure, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.092	B	0.03	B	0.003	N	0.808	D	0.65	N	-0.57	T	-0.943	T	0.158	T	0.098	2.445	14.13	-1.24	-0.464	0.143	11.207	0.084	0.0163561709268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.2	0.27591	T	0.001	0.07471	B	0.014	0.16862	B	0.003161	0.35359	N	0.340549	0.808271	0.34605	D	1.215	0.30540	L	-0.57	0.71307	T	-0.56	0.17003	N	0.18	0.21319	-0.9428	0.42169	T	0.158	0.49161	T	10	0.12013167	0.22748	T	0.016356	0.37579	T	0.084	0.24469	0.581	0.70733	0.558735321446	0.55534	0.6026462612619176	0.60195	0.207193284958	0.23165	0.39371034503	0.24192	T	0.151643	0.49168	T	-0.160665	0.26657	T	-0.46856	0.25671	T	0.164366632699966	0.18188	T	0.80392	0.46941	T	0.028097594	0.02097	0.05270045	0.08736	0.028097594	0.02097	0.05270045	0.08735	-3.513	0.16614	T	0.1675145725765002	0.20893	0.092	0.14933	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.333185	0.17389	13.13	0.97052108408720261	0.32155	0.55485	0.29876	D	AEFBI	0.096940	0.19561	N	-0.615103842216773	0.18490	0.9603645	-0.488416892107476	0.22472	1.220722	0.0637386808472868	0.15306	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.87	-1.24	0.08948	0.426000	0.21081	-0.621000	0.08173	0.651000	0.53179	0.998000	0.41325	0.000000	0.08366	0.985000	0.61073	0.0:0.1946:0.0:0.8054	11.207	0.48001	883	0.28872	.;.;.;.;.;.;.;.	.	.	.	.	.	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	56.98	33	chr4	76163299	.	T	C	56.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.230e+00;DP=908;ExcessHet=0.0000;FS=54.076;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.59;ReadPosRankSum=0.136;SOR=5.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,15:96:71:0|1:76163299_T_C:71,0,2804:76163299	20	0	1	0
chr4	76166260	76166260	T	A	exonic	SCARB2	.	nonsynonymous SNV	SCARB2:NM_001204255:exon7:c.A800T:p.Y267F	Epilepsy, progressive myoclonic 4, with or without renal failure, Autosomal recessive	.	1	1518	3	0	0	3	0.000987167	.	.	520502	Progressive_myoclonic_epilepsy	MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.013	B	0.058	B	0.000	D	1.000	D	1.47	L	-0.61	T	-0.695	T	0.279	T	0.523	3.045	16.16	6.07	2.326	3.550	14.164	0.225	0.0181889289597	.	.	8.238e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs777270813	1.231e-05	1.231e-05	1.633e-05	8.25e-06	0.0003	7.7e-06	6.35e-06	0.0001	0.0001	0	0	0	0.0003	0	0	5.396e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	0.11050	T	0.551	0.12848	T	0.002	0.09854	B	0.03	0.21741	B	0.000005	0.62929	D	0.110934	0.999934	0.51612	D	1.235	0.30780	L	-0.61	0.71779	T	-1.3	0.34992	N	0.427	0.47765	-0.6951	0.60670	T	0.279	0.65109	T	10	0.43326747	0.57629	T	0.018189	0.40170	T	0.225	0.52323	0.797	0.91729	0.193865811164	0.18958	0.826242829663348	0.82582	0.223792437189	0.24896	0.517915844917	0.41332	T	0.234883	0.60201	T	-0.104615	0.35662	T	-0.218921	0.52840	T	0.376824302184032	0.28060	T	0.889011	0.67973	D	0.657118	0.75744	0.38668182	0.63554	0.657118	0.75746	0.38668182	0.63554	-4.131	0.25980	T	0.14011160077437554	0.15652	0.123	0.30920	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.252396	0.28770	17.91	0.96955385019923512	0.31755	0.93632	0.58750	D	AEFBI	0.475317	0.51921	N	0.0415018028291463	0.43753	2.66205	0.23485268371034	0.51793	3.358746	0.999999241073093	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	3.760000	0.54947	4.155000	0.42174	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.164	0.65000	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	1	0	0	0	0	0	0	0.02381	1270.98	33	chr4	76166260	.	T	A	1270.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.300e-01;DP=792;ExcessHet=0.0000;FS=3.720;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-8.320e-01;SOR=0.406	GT:AD:DP:GQ:PL	0/1:48,54:102:99:1285,0,1194	20	0	1	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	6438.4	35	chr4	87615730	.	ATAG	A,*	6438.4	.	AC=12,23;AF=0.286,0.548;AN=42;BaseQRankSum=2.60;DP=1174;ExcessHet=2.5830;FS=1.919;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=57.85;MQRankSum=-3.073e+00;QD=6.83;ReadPosRankSum=1.06;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:16,0,24:40:99:.:.:845,893,1563,0,669,596	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	0/2:16,0,24:40:99:.:.:845,893,1563,0,669,596	0	2	2	0
chr4	88697328	88697328	C	T	exonic	NAP1L5	.	nonsynonymous SNV	NAP1L5:NM_153757:exon1:c.G427A:p.E143K,	.	.	397	1108	16	1	0	18	0.0080573	.	.	698679	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.41	T	0.862	P	0.278	B	.	.	1.000	N	1.15	L	0.95	T	-1.071	T	0.046	T	0.256	2.185	13.26	0.937	0.313	1.389	5.200	0.044	0.00233030565102	.	0.00119808	0.0021	0.0004	0.0010	0	0	0.0031	0.0055	0.0013	0.0019469	301	154602	rs187220478	0.0020	0.0020	0.0019	0.0021	0.0099	0.0019	0.0019	0.0078	0.0071	0.0007	0.0019	0.0041	0	1.873e-05	0.0099	0.0021	0.0025	0.0012	0.0024	0.0024	0.0026	0.0022	0.0027	0.0022	0.0021	0.0024	0.0023	0.0005	0.1162	0.0020	0.0035	0	0	0.0034	0.0027	0.0038	0.0006	0.319	0.13610	T	0.0	0.92824	D	0.862	0.47435	P	0.278	0.40236	B	.	.	.	.	0.999996	0.08975	N	1.585	0.39878	L	0.95	0.43279	T	-1.3	0.32590	N	0.226	0.25377	-1.0706	0.09282	T	0.046	0.19680	T	9	0.0035840273	0.00065	T	0.00233	0.04507	T	0.044	0.11924	.	.	0.213499824651	0.20940	0.20617337297224617	0.20534	0.295038771139	0.31913	0.719996213913	0.70046	T	0.081148	0.36528	T	-0.495407	0.00607	T	-0.497624	0.22594	T	0.00865093068815162	0.00106	T	0.467953	0.13790	T	0.11509076	0.27164	0.12094661	0.29184	0.11509076	0.27163	0.12094661	0.29183	-10.481	0.76738	D	.	.	0.260	0.49499	B	.	.	2.233190	0.28512	17.82	0.97476942295010238	0.34167	0.02751	0.07435	N	AEFDGBHCI	0.032526	0.03691	N	-0.564380455674891	0.20035	1.053207	-0.715274310773102	0.16580	0.8777976	0.999998883342712	0.74766	0.652421	0.48094	0	0.516746	0.08562	0	0.64067	0.45733	0	0.665054	0.64577	0	.	.	1.88	0.937	0.18618	2.747000	0.47151	-0.043000	0.12644	0.539000	0.25131	0.141000	0.23520	0.000000	0.08366	0.962000	0.52141	0.343:0.657:0.0:0.0	5.200	0.14584	785	0.46916	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	533.98	34	chr4	88697328	.	C	T	533.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=770;ExcessHet=0.0000;FS=0.966;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.12;ReadPosRankSum=0.00;SOR=0.558	GT:AD:DP:GQ:PL	0/1:53,22:75:99:548,0,1462	20	0	1	0
chr4	89248684	89248684	C	A	exonic	GPRIN3	.	nonsynonymous SNV	GPRIN3:NM_198281:exon2:c.G1427T:p.C476F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.075	B	0.053	B	0.310	N	1.000	N	0.345	N	2.92	T	-0.923	T	0.013	T	0.129	1.473	10.87	0.554	0.097	-0.782	5.598	0.031	0.00775043867878	7.7e-05	.	2.471e-05	0	0	0	0	4.495e-05	0	0	1.94e-05	3	154602	rs367974814	6.156e-06	6.156e-06	1.361e-06	1.1e-05	0.0002	2.9e-06	2.1e-06	2.62e-06	1.68e-06	0	0	0	0	0	0.0002	6.295e-06	1.656e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.014	0.53172	D	0.694	0.05844	T	0.075	0.24198	B	0.053	0.25678	B	0.309817	0.14453	N	0.513841	1	0.08975	N	0.345	0.11182	N	2.92	0.09915	T	-1.54	0.37375	N	0.102	0.08646	-0.9234	0.45084	T	0.013	0.05129	T	10	0.06233555	0.07953	T	0.00775	0.20563	T	0.031	0.07369	.	.	0.0297737177859	0.01360	0.09735385992318572	0.09666	0.0510779051135	0.05618	0.2378911376	0.02603	T	0.034425	0.23318	T	-0.349789	0.04741	T	-0.724738	0.04570	T	0.0310574043542147	0.02155	T	0.354964	0.08031	T	0.14437054	0.33141	0.10704653	0.25763	0.14437054	0.33141	0.10704653	0.25762	-4.0	0.23804	T	.	.	0.076	0.06525	B	.;.	.;.	0.355930	0.07288	3.895	0.94099124561589387	0.24261	0.12446	0.17274	N	AEFDBI	0.197615	0.32453	N	-1.09692292559889	0.06699	0.309151	-1.09801680005186	0.07739	0.3776583	0.999596949778468	0.40745	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.31	0.554	0.16430	-0.587000	0.05874	-1.100000	0.06331	-0.188000	0.09543	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.122:0.5317:0.0:0.3463	5.598	0.16621	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	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	1839.98	86	chr4	89248684	.	C	A	1839.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.479e+00;DP=1696;ExcessHet=0.0000;FS=0.641;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.73;ReadPosRankSum=-4.030e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/1:65,69:134:99:1854,0,1822	20	0	1	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.973	D	0.964	D	0.274	N	0.986	N	1.745	L	3.67	T	-1.090	T	0.040	T	0.61	3.658	18.60	2.36	0.190	4.136	8.164	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.45	6049.22	166	chr4	99318097	.	C	G	6049.22	.	AC=18;AF=0.450;AN=40;BaseQRankSum=-2.037e+00;DP=3479;ExcessHet=30.0624;FS=302.606;InbreedingCoeff=-0.7873;MLEAC=19;MLEAF=0.475;MQ=59.97;MQRankSum=0.00;QD=2.22;ReadPosRankSum=-1.750e-01;SOR=13.960	GT:AD:DP:GQ:PL	0/1:110,62:172:99:308,0,1650	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	0/1:65,52:135:99:.:.:619,0,863	4	0	16	1
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	0/1:112,31:143:54:54,0,1939	12	0	7	2
chr4	112382406	112382406	C	G	exonic	ALPK1	.	nonsynonymous SNV	ALPK1:NM_001102406:exon4:c.C130G:p.P44A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.901	P	0.475	P	0.001	N	1.000	D	2.14	M	1.41	T	-0.989	T	0.103	T	0.489	2.088	12.94	3.89	0.708	1.838	12.435	0.128	0.0194258024851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.184	0.29056	T	0.717	0.42239	P	0.18	0.35854	B	0.001351	0.39310	N	0.249457	0.983319	0.81001	D	1.845	0.48678	L	1.41	0.33412	T	-2.61	0.56144	D	0.44	0.48689	-0.9894	0.32753	T	0.103	0.37944	T	10	0.22064155	0.38766	T	0.019426	0.41790	T	0.128	0.35103	0.242	0.17524	0.374970422459	0.37104	.	.	0.241361599698	0.26659	0.454678177834	0.32583	T	0.158246	0.50119	T	-0.0751227	0.40504	T	-0.345685	0.39698	T	0.946207046508789	0.62421	D	0.846915	0.52723	T	0.18790884	0.40266	0.12896559	0.31018	0.18790884	0.40265	0.12896559	0.31017	-1.239	0.01307	T	0.6965863003661017	0.77501	0.168	0.36889	B	.;.	.;.	2.457496	0.31654	18.81	0.98519611846547295	0.42447	0.95345	0.64359	D	AEFBI	0.381249	0.46359	N	0.24523883490056	0.53404	3.509368	0.266211184757234	0.53577	3.525954	0.611986003912558	0.21812	0.638212	0.43195	0	0.653731	0.59785	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.63	3.89	0.44098	1.875000	0.39214	1.375000	0.25987	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.8658:0.0:0.1342	12.435	0.54929	849	0.35778	.;.	.	.	.	.	.	Uncertain significance	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	1484.98	39	chr4	112382406	.	C	G	1484.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=972;ExcessHet=0.0000;FS=2.149;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.46;ReadPosRankSum=0.654;SOR=0.921	GT:AD:DP:GQ:PL	0/1:75,67:142:99:1499,0,1726	20	0	1	0
chr4	115076687	115076687	A	G	exonic	NDST4	.	nonsynonymous SNV	NDST4:NM_022569:exon2:c.T350C:p.I117T,	.	.	435	1086	0	1	0	2	0.000919963	.	.	2699708	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.233	B	0.266	B	0.000	D	1.000	D	0.41	N	1.22	T	-1.012	T	0.079	T	0.485	3.473	17.78	5.04	1.886	9.278	14.804	0.251	0.016738460781	.	.	9.917e-05	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs778348193	3.9e-05	3.899e-05	1.089e-05	6.739e-05	0.0006	3.048e-05	2.783e-05	0.0005	0.0004	0	0	0	0	0	0	3.597e-06	0	0.0006	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	0.032	0.44694	D	0.04	0.50809	D	0.233	0.30696	B	0.266	0.39732	B	0.000001	0.62929	D	0.093843	0.999996	0.58761	D	1.61	0.41143	L	1.22	0.37052	T	-1.93	0.44852	N	0.583	0.60410	-1.0119	0.26322	T	0.079	0.31254	T	10	0.21667084	0.38256	T	0.016738	0.38138	T	0.251	0.56024	0.467	0.53891	0.795487217394	0.79358	0.5660048022902222	0.56528	0.3353759794	0.35546	0.584713339806	0.50749	T	0.134638	0.46599	T	-0.309647	0.07778	T	-0.314971	0.43122	T	0.231518792299729	0.22024	T	0.958204	0.84269	D	0.26175338	0.49234	0.26219177	0.52007	0.26175338	0.49234	0.26219177	0.52006	-7.322	0.56352	T	.	.	0.448	0.62107	A	.	.	3.863018	0.56034	23.7	0.99792930225203069	0.87839	0.98910	0.88498	D	AEFI	0.917501	0.88521	D	0.146174661672104	0.48631	3.073009	0.308642277483094	0.56046	3.767601	0.999380354732521	0.39415	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.04	5.04	0.67293	9.264000	0.94788	11.037000	0.85129	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.804	0.69565	926	0.17793	Heparan sulphate-N-deacetylase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1609.98	35	chr4	115076687	.	A	G	1609.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.940e-01;DP=878;ExcessHet=0.0000;FS=3.130;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=0.574;SOR=0.528	GT:AD:DP:GQ:PL	0/1:68,63:131:99:1624,0,1919	20	0	1	0
chr4	139730437	139730439	CTG	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon3:c.2308_2310del:p.Q772del,	.	.	0	0	0	225	1	451	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	76395.26	66	chr4	139730430	.	TCTGCTGCTG	TCTGCTG,T	76395.26	.	AC=41,1;AF=0.976,0.024;AN=42;BaseQRankSum=-1.573e+00;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;MQRankSum=0.00;QD=28.49;ReadPosRankSum=0.778;SOR=0.141	GT:AD:DP:GQ:PL	1/1:0,81,0:81:99:3635,244,0,3635,244,3635	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	1/1:0,81,0:81:99:3635,244,0,3635,244,3635	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|1:67,33,0,0,0:100:99:0|1:139889909_TTGCTGC_T:1120,0,2610,1322,2710,4032,1322,2710,4032,4032,1322,2710,4032,4032,4032:139889909	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|1:67,33,0,0,0:100:99:0|1:139889909_TTGCTGC_T:1120,0,2610,1322,2710,4032,1322,2710,4032,4032,1322,2710,4032,4032,4032:139889909	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|1:67,33,0,0,0:100:99:0|1:139889909_TTGCTGC_T:1120,0,2610,1322,2710,4032,1322,2710,4032,4032,1322,2710,4032,4032,4032:139889909	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|1:67,33,0,0,0:100:99:0|1:139889909_TTGCTGC_T:1120,0,2610,1322,2710,4032,1322,2710,4032,4032,1322,2710,4032,4032,4032:139889909	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	0/1:65,33:98:99:.:.:303,0,1857	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	0/1:58,25:97:99:.:.:455,0,945	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	1/1:0,153,0:153:99:.:.:5388,460,0,5388,460,5388	0	20	0	0
chr4	143699849	143699849	C	T	exonic	FREM3	.	nonsynonymous SNV	FREM3:NM_001168235:exon1:c.G827A:p.G276D,	.	.	406	1108	8	0	0	8	0.00359712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	.	.	.	.	0.416	N	1.000	N	0.455	N	2.09	T	-1.017	T	0.014	T	0.044	-0.484	1.773	-2.96	-0.848	0.512	5.010	0.014	.	0.0048	0.00379393	0.0027	0.0164	0.0051	0.0046	0.0021	0.0002	0	0.0022	0.0005821	90	154602	rs149219650	0.0009	0.0009	0.0009	0.0009	0.0148	0.0009	0.0008	0.0137	0.0133	0.0148	0.0012	0	0	0.0006	0.0091	0.0004	0.0015	0.0020	0.0043	0.0043	0.0044	0.0042	0.0140	0.0041	0.0039	0.0130	0.0126	0.0140	0	0.0017	0	0	0.0008	0.0034	0.0005	0.0038	0.0008	0.274	0.15823	T	0.442	0.13252	T	.	.	.	.	.	.	0.415924	0.04619	N	1.523810	1	0.08975	N	0.635	0.15989	N	2.09	0.20122	T	-1.34	0.33401	N	0.039	0.01274	-1.0169	0.24722	T	0.014	0.05513	T	8	0.003322959	0.00057	T	.	.	.	0.014	0.01968	.	.	0.0716867268079	0.06686	0.48528482341388735	0.48448	.	.	0.400290727615	0.25109	T	0.004599	0.04008	T	-0.698169	0.00037	T	-0.763971	0.02972	T	0.00202375306204244	0.00021	T	0.256074	0.03980	T	0.058401812	0.11744	0.10194784	0.24420	0.058401812	0.11744	0.10194784	0.24419	-4.535	0.31344	T	.	.	0.065	0.01810	B	.	.	0.253005	0.06321	2.781	0.76798391799292676	0.11613	0.03969	0.09378	N	AEFBCI	0.047292	0.07948	N	-1.0443728789965	0.07699	0.3585176	-1.19809405267896	0.05942	0.2845646	0.999024258173435	0.38237	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.05	-2.96	0.05212	1.251000	0.32465	-1.195000	0.06058	-0.176000	0.10722	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	0.0:0.2833:0.2957:0.421	5.010	0.13647	811	0.42639	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1998.98	64	chr4	143699849	.	C	T	1998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.720e+00;DP=1355;ExcessHet=0.0000;FS=0.607;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=-9.580e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/1:68,79:147:99:2013,0,1786	20	0	1	0
chr4	144734742	144734742	C	T	exonic	HHIP	.	nonsynonymous SNV	HHIP:NM_022475:exon12:c.C1762T:p.P588S,	.	.	422	1093	7	0	0	7	0.00319197	0.6620	0.636	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.377	B	0.073	B	0.000	D	1.000	D	1.935	M	3.38	T	-1.087	T	0.023	T	0.263	4.306	22.6	5.21	1.575	5.749	15.095	0.127	0.0175110847862	7.7e-05	.	0.0003	0	8.669e-05	0	0.0002	0.0003	0	0.0013	0.0003105	48	154602	rs201997512	0.0002	0.0002	0.0002	0.0003	0.0050	0.0002	0.0002	0.0035	0.0030	0.0001	6.805e-05	0	0	3.796e-05	0.0050	0.0001	0.0004	0.0012	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	0.0001	0.0007	0.0005	9.629e-05	0	0.0001	0	0	0	0.0034	0.0002	0.0005	0.0015	0.154	0.24277	T	0.057	0.46406	T	0.377	0.34270	B	0.073	0.28123	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.955	0.52871	M	3.38	0.05778	T	-0.59	0.17624	N	0.455	0.49237	-1.0874	0.05978	T	0.023	0.09650	T	10	0.04935059	0.04511	T	0.017511	0.39237	T	0.127	0.34888	.	.	0.184605227958	0.18053	0.6301005949279682	0.62944	0.213602836398	0.23874	0.558486282825	0.47054	T	0.124724	0.44995	T	-0.461432	0.00963	T	-0.486032	0.23808	T	0.024490787006417	0.01207	T	0.933407	0.75038	D	0.3447048	0.56651	0.18329765	0.41311	0.3447048	0.56651	0.18329765	0.41310	-4.29	0.28037	T	.	.	0.196	0.41723	B	.	.	3.985731	0.58627	24.0	0.99881691966790742	0.95733	0.95880	0.66551	D	AEFDGBCIJ	0.771535	0.70614	D	0.183673156082811	0.50416	3.231722	0.300325785443623	0.55558	3.718835	0.99999999999773	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.48864	0.07692	0	0.711	0.71501	0	.	.	6.05	5.21	0.72005	5.827000	0.68989	3.304000	0.37407	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	0.0:0.9327:0.0:0.0673	15.095	0.71900	887	0.27948	.	.	.	.	.	.	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	2399.98	45	chr4	144734742	.	C	T	2399.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.80;DP=973;ExcessHet=0.0000;FS=6.491;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=-2.130e+00;SOR=1.133	GT:AD:DP:GQ:PL	0/1:96,88:184:99:2414,0,2387	20	0	1	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	1/1:1,43,0,2,0:46:71:1696,87,0,1758,156,2041,1692,71,2014,2246,1758,156,2041,2014,2041	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	1/1:1,43,0,2,0:46:71:1696,87,0,1758,156,2041,1692,71,2014,2246,1758,156,2041,2014,2041	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	1/1:1,43,0,2,0:46:71:1696,87,0,1758,156,2041,1692,71,2014,2246,1758,156,2041,2014,2041	0	10	4	0
chr4	168898668	168898668	T	C	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.T254C:p.M85T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.979	D	0.777	P	0.002	U	1.000	D	-0.545	N	1.65	T	-0.694	T	0.210	T	0.766	-0.222	2.926	5.55	2.107	6.186	15.690	0.279	0.0397687347451	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs781250247	2.07e-06	2.056e-06	4.124e-06	0	2.726e-06	5.5e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.726e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.12428	T	0.463	0.23707	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999968	0.81001	D	.	.	.	-0.55	0.71068	T	-2.21	0.72594	N	0.834	0.82964	-0.6935	0.60745	T	0.210	0.56933	T	10	0.30150113	0.47692	T	0.039769	0.58997	D	0.279	0.59619	.	.	0.641199583376	0.63823	0.5348204186873708	0.53407	0.808502915327	0.66620	0.717784404755	0.69723	T	0.08085	0.36460	T	0.141406	0.68459	D	-0.0346559	0.68059	D	0.576772583678845	0.35494	D	0.686731	0.31793	T	.	.	.	.	.	.	.	.	-8.267	0.67607	D	.	.	0.751	0.78309	P	.;.;.;.;.;.	.;.;.;.;.;.	4.050325	0.60035	24.2	0.84874175254793893	0.15549	0.97797	0.77204	D	AEFBI	0.776798	0.70979	D	0.146184386989402	0.48631	3.07305	0.269934385284283	0.53793	3.546451	0.99999999424337	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	6.167000	0.71757	6.181000	0.54632	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.0:0.0:0.0:1.0	15.690	0.77200	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	209.61	37	chr4	168898668	.	T	C	209.61	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.488e+00;DP=1274;ExcessHet=0.6776;FS=85.472;InbreedingCoeff=-0.0993;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.59;ReadPosRankSum=0.512;SOR=9.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,26:114:43:0|1:168898668_T_C:43,0,2644:168898668	17	0	4	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|1:78,37:115:99:0|1:168898668_T_C:422,0,1245:168898668	17	0	4	0
chr4	176192761	176192761	G	A	exonic	SPATA4	.	nonsynonymous SNV	SPATA4:NM_144644:exon4:c.C554T:p.S185L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.994	D	0.000	D	0.832	D	2.445	M	1.89	T	-0.632	T	0.176	T	0.68	3.441	17.65	5.27	2.622	6.063	16.159	0.274	0.0351034252102	.	.	8.25e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs757850312	1.3e-05	1.3e-05	1.089e-05	1.513e-05	6.708e-05	8.31e-06	6.7e-06	1.779e-05	8.93e-06	0	6.708e-05	0	0	1.872e-05	0	1.259e-05	1.656e-05	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.003	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000071	0.52346	D	0.079784	0.832452	0.34939	D	3.055	0.86842	M	1.89	0.23688	T	-5.27	0.86149	D	0.619	0.73105	-0.6320	0.63485	T	0.176	0.52115	T	10	0.7589535	0.76197	D	0.035103	0.56125	D	0.274	0.59007	0.627	0.76254	0.50466331119	0.50103	0.7873723497403182	0.78689	0.447679925496	0.44623	0.450667560101	0.32036	T	0.194486	0.55027	T	-0.0959267	0.37099	T	-0.178597	0.56653	T	0.976261854171753	0.71301	D	0.849315	0.54589	T	0.71285784	0.78765	0.67117494	0.80705	0.71285784	0.78766	0.67117494	0.80706	-3.59	0.17713	T	.	.	0.454	0.67894	A	.;.	.;.	5.019819	0.83422	28.0	0.99902261830418337	0.97350	0.86265	0.45512	D	AEFBI	0.556432	0.56647	D	0.623561123392	0.74665	6.171817	0.516443356632906	0.69096	5.311816	0.999999996002805	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.635259	0.50027	0	.	.	5.27	5.27	0.73797	6.292000	0.72712	11.676000	0.94162	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.794000	0.37478	0.0:0.0:1.0:0.0	16.159	0.81494	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	1176.98	83	chr4	176192761	.	G	A	1176.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=1139;ExcessHet=0.0000;FS=2.566;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-3.070e-01;SOR=0.890	GT:AD:DP:GQ:PL	0/1:53,47:100:99:1191,0,1221	20	0	1	0
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V,	Lymphedema, hereditary, ID, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.018	B	0.016	B	0.000	D	1.000	D	1.085	L	.	.	-0.916	T	0.201	T	0.066	2.388	13.94	5.98	2.843	4.695	20.437	0.389	0.00457388535514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.36233	T	0.018	0.17786	B	0.016	0.17743	B	0.000002	0.62929	D	0.060984	0.999978	0.53665	D	1.445	0.36358	L	.	.	.	.	.	.	0.211	0.23506	-0.9162	0.46063	T	0.201	0.55723	T	9	0.21782258	0.38406	T	0.004574	0.11283	T	.	.	0.338	0.32816	0.258283824007	0.25425	0.20722753188937795	0.20638	.	.	0.476231843233	0.35538	T	0.511562	0.82742	D	-0.225602	0.17235	T	-0.561838	0.16204	T	0.975354909896851	0.70898	D	0.818018	0.47523	T	0.68111783	0.77030	0.5560567	0.74322	0.68111783	0.77031	0.5560567	0.74323	-3.092	0.11205	T	.	.	0.149	0.32898	B	.	.	2.846774	0.37571	20.5	0.99481528693655874	0.66904	0.93293	0.57830	D	AEFDGBIJ	0.738481	0.68334	D	0.0495151208025927	0.44120	2.691901	0.265583808111138	0.53542	3.522512	0.999999999071338	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	4.780000	0.62075	7.388000	0.58495	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1206.97	34	chr4	176711629	.	G	C	1206.97	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-5.125e+00;DP=1382;ExcessHet=4.7172;FS=102.363;InbreedingCoeff=-0.2644;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=1.63;ReadPosRankSum=0.755;SOR=10.330	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,17:89:99:0|1:176711629_G_C:168,0,2608:176711629	12	0	9	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R,	Lymphedema, hereditary, ID, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	1678376	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.988	D	0.000	D	1.000	D	1.52	L	.	.	-0.325	T	0.394	T	0.926	4.430	23.6	5.98	2.843	9.466	20.437	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3235	1555.83	65	chr4	176711631	.	G	C	1555.83	.	AC=11;AF=0.324;AN=34;BaseQRankSum=-1.679e+00;DP=1803;ExcessHet=7.7275;FS=101.631;InbreedingCoeff=-0.4496;MLEAC=12;MLEAF=0.353;MQ=60.00;MQRankSum=0.00;QD=1.71;ReadPosRankSum=0.695;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,17:90:99:0|1:176711629_G_C:165,0,2630:176711629	6	0	11	4
chr4	184010627	184010627	A	G	exonic	STOX2	.	nonsynonymous SNV	STOX2:NM_020225:exon3:c.A1789G:p.T597A,	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.0	B	0.910	N	1.000	N	-0.55	N	0.04	T	-1.012	T	0.142	T	0.046	-2.275	0.004	-1.24	-0.335	-0.044	11.355	0.083	0.0178164260612	.	.	8.304e-05	0	0	0	0	0	0	0.0006	6.47e-05	10	154602	rs762394859	3.284e-05	3.283e-05	1.225e-05	5.364e-05	0.0005	2.543e-05	2.249e-05	0.0004	0.0004	0	0	0	0	0	0	0	1.656e-05	0.0005	1.313e-05	1.312e-05	1.284e-05	1.342e-05	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	0.508	0.07545	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.910412	0.07411	N	1.037240	1	0.08975	N	-1.355	0.00654	N	0.04	0.62051	T	-0.34	0.12661	N	0.028	0.00618	-1.0117	0.26385	T	0.142	0.46294	T	10	0.0148284435	0.00311	T	0.017816	0.39666	T	0.083	0.24192	0.118	0.02577	0.0675242888579	0.06100	0.08876920360427633	0.08809	0.247938390981	0.27351	0.286605864763	0.08430	T	0.004815	0.04227	T	-0.542882	0.00322	T	-0.668158	0.07726	T	0.0246302078723163	0.01225	T	0.70113	0.31087	T	0.031189656	0.02914	0.035123624	0.02704	0.031189656	0.02914	0.035123624	0.02704	-3.354	0.14444	T	.	.	0.056	0.00505	B	.	.	-0.617028	0.01526	0.098	0.29728766208075702	0.01591	0.02591	0.07151	N	AEFBI	0.053538	0.09655	N	-1.42375357375538	0.02431	0.1073495	-1.3820650720746	0.03443	0.1606097	0.00540280402795225	0.10928	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.45	-1.24	0.08948	-0.041000	0.12036	-0.395000	0.09449	-0.065000	0.16512	0.000000	0.06391	0.000000	0.08366	0.118000	0.19084	0.4779:0.0:0.5221:0.0	11.355	0.48852	859	0.33891	.	.	.	.	.	.	Uncertain significance	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	1153.98	90	chr4	184010627	.	A	G	1153.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.000e-01;DP=1859;ExcessHet=0.0000;FS=3.435;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.21;ReadPosRankSum=-8.440e-01;SOR=0.596	GT:AD:DP:GQ:PL	0/1:63,50:113:99:1168,0,1635	20	0	1	0
chr4	189957425	189957425	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A460G:p.S154G,	.	.	1	846	675	0	0	675	0.285171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.047	B	0.081	B	0.000	D	1.000	D	0.485	N	2.6	T	-1.080	T	0.058	T	0.714	-0.181	3.117	4.19	1.677	5.001	11.575	0.185	0.011311376018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs189762674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05061	T	1.0	0.03232	T	0.047	0.21998	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.6	0.41750	T	0.43	0.08971	N	0.459	0.49602	-1.0801	0.07330	T	0.058	0.24391	T	10	0.2421839	0.41410	T	0.011311	0.28804	T	0.185	0.45933	0.71	0.84601	0.556105722742	0.55269	0.4529120959340938	0.45209	0.26085393997	0.28643	0.762159407139	0.76251	T	0.040046	0.25396	T	0.00380976	0.52179	T	-0.232304	0.51549	T	0.277109354734421	0.24049	T	.	.	.	0.28638732	0.51655	0.3411275	0.59856	0.28638732	0.51655	0.3411275	0.59855	-6.244	0.48277	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	3.090452	0.41606	21.4	0.25288622774737562	0.01159	0.90585	0.51883	D	AEDGBI	0.513229	0.54111	D	-0.436064510326238	0.24215	1.305949	-0.265167819402356	0.29255	1.637516	0.999920515020144	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	4.19	0.48645	5.243000	0.65217	7.387000	0.58489	-0.212000	0.08331	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	11.575	0.50111	991	0.01385	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	2047.95	100	chr4	189957425	.	A	G	2047.95	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-4.170e-01;DP=2475;ExcessHet=4.7172;FS=2.456;InbreedingCoeff=-0.2675;MLEAC=9;MLEAF=0.214;MQ=47.50;MQRankSum=-1.662e+00;QD=1.66;ReadPosRankSum=-7.240e-01;SOR=0.943	GT:AD:DP:GQ:PL	0/1:93,9:102:8:8,0,2768	12	0	9	0
chr5	14397101	14397101	T	C	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon29:c.T4370C:p.M1457T,	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.986	D	0.000	D	1.000	D	3.405	M	-0.15	T	0.311	D	0.546	D	0.96	3.782	19.20	5.65	2.279	7.927	16.178	0.803	0.607880101629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	0.995	0.67487	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.62	0.93917	H	-0.15	0.65192	T	-5.22	0.85103	D	0.933	0.93841	0.311	0.87728	D	0.546	0.83298	D	10	0.91930556	0.91287	D	0.60788	0.96567	D	0.803	0.93582	0.768	0.89530	0.770173575234	0.76806	0.8865844041988105	0.88627	2.08621322631	0.94675	0.935062050819	0.99249	D	0.461553	0.79828	T	0.385551	0.89062	D	0.316041	0.88925	D	0.99721485376358	0.91033	D	0.994516	0.98171	D	0.8800467	0.89670	0.8839668	0.93840	0.8800467	0.89671	0.8839668	0.93840	-12.877	0.88850	D	0.8126676643583495	0.88728	0.993	0.96223	P	.;.;.	.;.;.	4.517657	0.70805	25.6	0.98558679360083823	0.42948	0.96380	0.68855	D	AEFBHCI	0.913403	0.87534	D	0.886268292424851	0.91070	10.701	0.841236870122834	0.92495	11.45868	0.999999999999891	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.65	5.65	0.86881	7.949000	0.87258	7.838000	0.70402	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	16.178	0.81689	700	0.57880	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	75.1	38	chr5	14397101	.	T	C	75.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.350e-01;DP=862;ExcessHet=0.1072;FS=66.961;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.49;ReadPosRankSum=-1.800e-01;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,7:68:33:0|1:14397101_T_C:33,0,2370:14397101	19	0	2	0
chr5	14397102	14397102	G	A	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon29:c.G4371A:p.M1457I,	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.979	D	0.97	D	0.000	D	1.000	D	2.125	M	0.19	T	-0.482	T	0.387	T	0.884	4.715	26.2	5.65	2.824	9.725	20.096	0.445	0.0409430656795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.013	0.63109	D	0.979	0.59044	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.245	0.63543	M	0.19	0.60236	T	-3.48	0.69357	D	0.82	0.81559	-0.4822	0.69288	T	0.387	0.74187	T	10	0.7300097	0.74233	D	0.040943	0.59658	D	0.445	0.74727	0.603	0.73466	0.508882987362	0.50527	0.8542333247851932	0.85386	2.03962625952	0.94218	0.903453052044	0.96813	D	0.394776	0.75383	T	0.315296	0.84136	D	0.215124	0.83929	D	0.961490571498871	0.66098	D	0.997445	0.98962	D	0.7682298	0.81942	0.7615341	0.85911	0.7682298	0.81943	0.7615341	0.85912	-11.132	0.80376	D	0.7776095063335766	0.85790	0.993	0.96282	P	.;.;.	.;.;.	4.666563	0.74536	26.2	0.99449286284606386	0.65172	0.97759	0.76927	D	AEFBHCI	0.904397	0.85465	D	0.618858874204644	0.74370	6.120863	0.693219286210317	0.81863	7.627383	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.65	5.65	0.86881	9.914000	0.98694	11.752000	0.95431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	20.096	0.97848	700	0.57880	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	92.68	38	chr5	14397102	.	G	A	92.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.650e+00;DP=917;ExcessHet=0.3300;FS=156.957;InbreedingCoeff=-0.0768;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=1.44;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,7:68:33:0|1:14397101_T_C:33,0,2370:14397101	18	0	3	0
chr5	34757524	34757524	T	G	exonic	RAI14	.	nonsynonymous SNV	RAI14:NM_001145523:exon2:c.T69G:p.D23E	.	.	432	1089	1	0	0	1	0.000458926	.	.	699071	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.23	T	1.0	D	0.998	D	.	.	0.996	N	2.23	M	-0.24	T	-0.138	T	0.287	T	0.254	2.010	12.68	-10.8	-2.841	-0.146	25.218	0.296	.	0.0035	0.00519169	0.0010	0.0100	0.0007	0	0	3.005e-05	0.0011	0	0.0009832	152	154602	rs114642247	0.0003	0.0003	0.0003	0.0003	0.0093	0.0003	0.0003	0.0084	0.0081	0.0093	0.0006	0	0	0	0.0016	3.327e-05	0.0007	1.159e-05	0.0026	0.0026	0.0026	0.0027	0.0091	0.0024	0.0023	0.0084	0.0081	0.0091	0	0.0010	0	0	0	0.0068	4.41e-05	0.0014	0.0002	0.284	0.25768	T	0.372	0.20811	T	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.996091	0.23116	N	.	.	.	-0.24	0.68474	T	-2.03	0.58085	N	0.145	0.18784	-0.1377	0.79221	T	0.287	0.65890	T	9	0.0054365396	0.00120	T	.	.	.	0.296	0.61616	0.343	0.33626	0.440077040801	0.43627	0.16409418693512764	0.16329	0.651973173108	0.58407	0.482592046261	0.36414	T	0.193648	0.54919	T	-0.441705	0.01264	T	-0.400999	0.33269	T	0.0258881618739978	0.01391	T	0.943306	0.79334	D	0.071022294	0.15692	0.09533454	0.22605	0.071022294	0.15691	0.09533454	0.22605	-5.024	0.37505	T	.	.	0.345	0.60014	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	-0.066150	0.03848	0.829	0.94491671920696363	0.24956	0.15531	0.18957	N	AEFBCI	0.152875	0.27763	N	-1.11673836189263	0.06345	0.2918265	-1.42492367745883	0.03004	0.1393423	0.999999999876074	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.42	-10.8	0.00171	-0.144000	0.10263	-8.002000	0.01046	-1.097000	0.01519	0.005000	0.17040	0.000000	0.08366	0.233000	0.22815	0.0:0.1492:0.0:0.8508	25.218	0.99993	885	0.28214	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1739.98	34	chr5	34757524	.	T	G	1739.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.170e-01;DP=953;ExcessHet=0.0000;FS=0.699;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=0.137;SOR=0.819	GT:AD:DP:GQ:PL	0/1:47,73:120:99:1754,0,1070	20	0	1	0
chr5	35876347	35876347	C	T	exonic	IL7R	.	nonsynonymous SNV	IL7R:NM_002185:exon8:c.C1241T:p.T414M,	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, Autosomal recessive	.	0	1425	89	8	0	105	0.035533	.	.	138275	Immunodeficiency_104|not_specified	MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971|MedGen:CN169374	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.07	T	0.987	D	0.548	P	0.218	N	1.000	N	1.7	L	1.78	T	-1.047	T	0.027	T	0.38	1.110	9.529	-1.06	-0.218	-0.672	3.165	0.111	.	0.0039	0.013778	0.0107	0.0012	0.0020	0.0271	0.0086	0.0056	0.0155	0.0359	0.0098252	1519	154602	rs2229232	0.0071	0.0071	0.0061	0.0082	0.0372	0.0070	0.0069	0.0362	0.0357	0.0017	0.0023	0.0135	0.0358	0.0085	0.0239	0.0037	0.0088	0.0372	0.0059	0.0059	0.0052	0.0066	0.0326	0.0055	0.0054	0.0284	0.0268	0.0010	0.0011	0.0043	0.0147	0.0301	0.0068	0.0102	0.0047	0.0100	0.0326	0.015	0.52492	D	0.031	0.53788	D	0.987	0.61912	D	0.548	0.49136	P	0.217605	0.03431	N	1.447760	1	0.08975	N	1.83	0.48079	L	1.78	0.25678	T	-1.11	0.28703	N	0.047	0.01911	-1.0472	0.15188	T	0.027	0.11663	T	10	0.0026548505	0.00041	T	.	.	.	0.111	0.31313	.	.	.	.	0.4007483538174258	0.39989	0.0171820885831	0.01662	0.229907736182	0.01961	T	0.363134	0.72893	T	-0.511019	0.00495	T	-0.481058	0.24334	T	0.0202699972013287	0.00727	T	0.692831	0.30243	T	0.020204129	0.00571	0.035991907	0.02956	0.024279028	0.01243	0.034701396	0.02585	-5.001	0.36851	T	0.3171601064527724	0.41522	0.087	0.10979	B	.	.	0.676186	0.10444	7.166	0.99348098151366837	0.60452	0.04635	0.10302	N	AEFGBCI	0.066404	0.13002	N	-0.644685924130409	0.17615	0.9079335	-0.840010357948379	0.13527	0.7022545	0.999916113977116	0.45857	0.653281	0.48532	0	0.681609	0.65952	0	0.573888	0.23631	0	0.669	0.65921	0	.	.	5.6	-1.06	0.09491	-0.111000	0.10778	-1.445000	0.05423	-1.021000	0.01731	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2999:0.3346:0.0:0.3655	3.165	0.06143	645	0.63593	.	.	.	.	.	.	Likely benign	0	0	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	3081.11	38	chr5	35876347	.	C	T	3081.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.97;DP=1012;ExcessHet=0.1072;FS=8.376;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=1.57;SOR=0.423	GT:AD:DP:GQ:PL	0/1:87,44:131:99:1144,0,2345	19	0	2	0
chr5	37058991	37058991	G	A	exonic	NIPBL	.	nonsynonymous SNV	NIPBL:NM_015384:exon44:c.G7511A:p.R2504Q	Cornelia de Lange syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.918	P	0.275	B	0.000	D	0.998	D	1.1	L	-1.25	T	0.213	D	0.663	D	0.454	2.839	15.46	5.85	2.767	4.633	20.154	0.103	0.0787099837387	.	0.000399361	8.238e-06	0	0	0	0	0	0	6.056e-05	1.94e-05	3	154602	rs578001374	6.841e-06	6.84e-06	4.084e-06	9.625e-06	5.797e-05	3.46e-06	2.52e-06	2.194e-05	1.43e-05	0	2.236e-05	0	2.519e-05	0	0	2.698e-06	0	5.797e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-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	0.361	0.55530	T	0.402	0.46862	T	0.867	0.50838	P	0.142	0.40079	B	0.000002	0.62929	D	0.055126	0.998479	0.44966	D	1.995	0.54099	M	-3.15	0.92938	D	0.2	0.23156	N	0.451	0.48872	0.213	0.86130	D	0.663	0.88306	D	10	0.13634625	0.25942	T	0.07871	0.73068	D	0.378	0.69612	0.227	0.15257	0.779907992592	0.77787	0.29460288646941607	0.29373	1.47017039982	0.86521	0.670656859875	0.62932	T	0.098875	0.40313	T	0.0248485	0.55033	T	-0.0205554	0.68992	D	0.213399135300346	0.21130	T	0.90061	0.65471	D	0.103698164	0.24510	0.11813455	0.28518	0.103698164	0.24510	0.11813455	0.28517	-5.36	0.40833	T	0.3153050473217691	0.41333	0.114	0.49167	B	.;.;.	.;.;.	4.709483	0.75645	26.4	0.99451374972602435	0.65274	0.94701	0.62033	D	AEFBI	0.516410	0.54295	D	0.259744446841759	0.54124	3.578652	0.391168580316059	0.61019	4.296419	0.999994949390538	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.85	5.85	0.93663	4.686000	0.61388	11.896000	0.99222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.154	0.98100	128	0.94857	.;.;.	.	.	.	.	.	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	1627.98	33	chr5	37058991	.	G	A	1627.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.15;DP=853;ExcessHet=0.0000;FS=3.100;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=-1.280e-01;SOR=1.003	GT:AD:DP:GQ:PL	0/1:86,65:151:99:1642,0,2085	20	0	1	0
chr5	37227803	37227803	G	A	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_001384732:exon10:c.C1136T:p.T379M	.	.	5	1513	4	0	0	4	0.00132013	.	.	721448	CPLANE1-related_disorder|Joubert_syndrome_17|not_provided	.|MONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615,Orphanet:475|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.239	B	0.023	B	0.410	U	1.000	N	1.355	L	1.96	T	-1.011	T	0.037	T	0.115	-0.411	2.079	0.784	0.204	1.793	1.386	0.027	.	.	0.00399361	0.0042	0	0	0	0	0.0001	0	0.0110	0.0007374	114	154602	rs373606997	0.0006	0.0006	0.0004	0.0009	0.0106	0.0006	0.0006	0.0100	0.0097	3.169e-05	0	0	0	0	0.0007	6.491e-06	0.0008	0.0106	0.0005	0.0005	0.0003	0.0007	0.0139	0.0004	0.0003	0.0112	0.0102	2.406e-05	0	0	0	0	0	0	2.941e-05	0	0.0139	0.165	0.23271	T	0.153	0.32144	T	.	.	.	.	.	.	0.410227	0.04586	U	1.421320	1	0.08975	N	.	.	.	1.96	0.22270	T	-0.91	0.24460	N	0.106	0.11483	-1.0111	0.26573	T	0.037	0.15943	T	10	0.0038154721	0.00072	T	.	.	.	0.027	0.05988	0.429	0.47680	0.132336055621	0.12781	0.1286853044030707	0.12793	0.134475830949	0.15141	.	.	.	0.013456	0.11635	T	-0.609343	0.00128	T	-0.63866	0.09767	T	0.0125311965811966	0.00208	T	0.532447	0.17709	T	0.013490253	0.00061	0.03347047	0.02247	0.019916056	0.00534	0.041449927	0.04714	-4.88	0.35509	T	0.3861854195403421	0.47995	0.077	0.06387	B	.;.	.;.	1.703970	0.21705	15.31	0.69766548933479	0.09078	0.01611	0.05216	N	AEFGBI	0.035599	0.04609	N	-0.819936223646867	0.12802	0.626364	-0.839993574486302	0.13528	0.7022745	0.25113244534607	0.18681	0.615465	0.37627	0	0.633656	0.55848	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.27	0.784	0.17723	1.908000	0.39537	2.737000	0.34433	-0.169000	0.11342	0.040000	0.20979	0.674000	0.26083	0.903000	0.43903	0.3866:0.1404:0.3313:0.1416	1.386	0.02107	153	0.93993	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1056.98	34	chr5	37227803	.	G	A	1056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.840e-01;DP=797;ExcessHet=0.0000;FS=0.869;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=1.72;SOR=0.532	GT:AD:DP:GQ:PL	0/1:38,44:82:99:1071,0,906	20	0	1	0
chr5	56881085	56881085	T	C	exonic	MAP3K1	.	nonsynonymous SNV	MAP3K1:NM_005921:exon13:c.T2182C:p.S728P,	46XY sex reversal 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.996	D	0.755	P	0.000	D	1.000	D	1.43	L	-0.11	T	-0.568	T	0.296	T	0.891	2.869	15.56	5.77	2.326	6.586	16.395	0.266	0.0434108942168	8.5e-05	.	3.932e-05	0	0	0	0	7.473e-05	0	0	2.59e-05	4	154602	rs369723872	2.335e-05	2.326e-05	2.05e-05	2.622e-05	0.0003	1.68e-05	1.483e-05	6.107e-05	2.527e-05	0	0	0	0	0	0.0003	2.709e-05	3.324e-05	0	3.942e-05	3.94e-05	7.706e-05	0	8.819e-05	1.715e-05	1.129e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0	8.819e-05	0	0	0.075	0.34444	T	0.034	0.52727	D	0.996	0.68779	D	0.755	0.56206	P	0.000000	0.84330	D	0.000000	0.999933	0.51612	D	0.895	0.22405	L	-0.11	0.64445	T	-0.64	0.18670	N	0.889	0.88798	-0.5677	0.66107	T	0.296	0.66782	T	10	0.78331417	0.78036	D	0.043411	0.60972	D	0.266	0.57999	.	.	0.906719468725	0.90578	0.6857615187886623	0.68516	0.918591870211	0.71354	0.663202166557	0.61867	T	0.082288	0.36793	T	0.135758	0.67918	D	0.143134	0.79747	D	0.377691268920898	0.28094	T	0.887811	0.61653	D	0.69726545	0.77908	0.5211455	0.72334	0.69726545	0.77909	0.5211455	0.72335	-5.355	0.40484	T	0.5233693440382813	0.59530	0.497	0.64435	A	.	.	3.726895	0.53285	23.3	0.99819459871864058	0.90238	0.96802	0.71018	D	AEFBI	0.856117	0.77331	D	0.591329797672735	0.72633	5.83656	0.628906383590479	0.77049	6.605023	0.998842723673837	0.37800	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.77	5.77	0.91077	6.545000	0.73784	6.192000	0.54780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	16.395	0.83423	926	0.17793	.	.	.	.	.	.	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	696.98	34	chr5	56881085	.	T	C	696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.000e+00;DP=711;ExcessHet=0.0000;FS=1.335;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.49;ReadPosRankSum=-5.910e-01;SOR=0.437	GT:AD:DP:GQ:PL	0/1:18,27:45:99:711,0,473	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	0/2:36,0,23:59:99:.:.:830,938,2292,0,1354,1284	11	1	6	0
chr5	65781381	65781381	G	A	exonic	NLN	.	nonsynonymous SNV	NLN:NM_020726:exon6:c.G782A:p.R261K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.97	H	-0.38	T	0.617	D	0.659	D	0.901	5.429	35	5.46	2.561	9.420	19.314	0.784	0.220095429307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	4.105	0.97342	H	-0.38	0.69027	T	-2.89	0.60665	D	0.925	0.94904	0.617	0.92124	D	0.659	0.88167	D	10	0.93170667	0.92508	D	0.220095	0.87740	D	0.784	0.92827	0.798	0.91802	0.91246113623	0.91157	0.9140086894676622	0.91375	0.545148157709	0.51557	0.630663752556	0.57240	T	0.350344	0.71807	T	0.399879	0.89908	D	0.336622	0.89781	D	0.99978369474411	0.98984	D	0.918508	0.72410	D	0.96499634	0.97778	0.91367346	0.95949	0.96499634	0.97778	0.91367346	0.95950	-13.749	0.92212	D	.	.	0.895	0.82435	P	.;.	.;.	5.087147	0.84935	28.5	0.99680434233624327	0.79241	0.99615	0.98010	D	AEFBI	0.926161	0.90683	D	1.09369753795067	0.98017	17.23992	1.00568811317894	0.98735	19.19314	0.999999994922267	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.46	5.46	0.80021	9.544000	0.97191	11.884000	0.98910	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.314	0.94192	797	0.45241	Peptidase M3A/M3B catalytic domain;Peptidase M3A/M3B 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	0.02381	1156.98	33	chr5	65781381	.	G	A	1156.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.484e+00;DP=771;ExcessHet=0.0000;FS=0.875;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.61;ReadPosRankSum=9.000e-03;SOR=0.562	GT:AD:DP:GQ:PL	0/1:40,45:85:99:1171,0,1056	20	0	1	0
chr5	69365169	69365169	T	C	exonic	TAF9	.	nonsynonymous SNV	TAF9:NM_001015892:exon3:c.A569G:p.Q190R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.972	D	0.786	P	0.000	D	1.000	D	1.975	M	1.46	T	-0.699	T	0.225	T	0.612	3.844	19.52	5.78	2.343	6.914	14.374	0.117	0.0175474401166	.	.	.	.	.	.	.	.	.	.	.	.	.	rs986960104	1.163e-05	1.163e-05	8.167e-06	1.513e-05	1.439e-05	7.08e-06	5.79e-06	8.52e-06	6.89e-06	0	0	0	0	0	0	1.439e-05	1.656e-05	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	0.086	0.54683	T	0.414	0.14369	T	0.972	0.57405	D	0.786	0.57542	P	0.000000	0.84330	D	0.000000	0.99997	0.81001	D	1.79	0.46772	L	1.46	0.46777	T	-0.66	0.19085	N	0.676	0.68342	-0.6989	0.60491	T	0.225	0.58919	T	10	0.35752624	0.52466	T	0.017547	0.39293	T	0.117	0.32689	0.303	0.27164	0.821461722733	0.81977	0.7266245985433606	0.72606	0.926389579969	0.71662	0.568622350693	0.48483	T	0.167856	0.51463	T	-0.0069934	0.50687	T	-0.247822	0.50032	T	0.702467355083697	0.40836	D	.	.	.	0.36679056	0.58347	0.36105454	0.61536	0.36679056	0.58347	0.36105454	0.61536	-3.314	0.13919	T	.	.	0.335	0.55829	B	.;.;.;.	.;.;.;.	3.214330	0.43764	21.8	0.99624523979379509	0.75655	0.97355	0.74226	D	AEFDGBHCI	0.869910	0.79065	D	0.693264702398184	0.79190	7.025853	0.710553696941672	0.83182	7.954564	0.999999999929346	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.78	5.78	0.91418	6.961000	0.75837	6.973000	0.57097	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:0.0:1.0	14.374	0.66427	976	0.04745	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1778.98	33	chr5	69365169	.	T	C	1778.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.235e+00;DP=832;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=1.05;QD=13.08;ReadPosRankSum=-2.240e-01;SOR=0.728	GT:AD:DP:GQ:PL	0/1:66,70:136:99:1793,0,2006	20	0	1	0
chr5	72198495	72198495	G	A	exonic	MAP1B	.	nonsynonymous SNV	MAP1B:NM_001324255:exon4:c.G4762A:p.D1588N	.	.	.	.	.	.	.	.	.	.	.	3288505	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.13	T	0.799	P	0.343	B	0.023	N	0.997	D	0	N	3.97	T	-0.674	T	0.008	T	0.051	2.441	14.12	4.47	2.491	6.924	12.756	0.160	0.0147285593658	.	.	5.767e-05	0	0	0	0	1.499e-05	0	0.0004	4.53e-05	7	154602	rs371216590	2.326e-05	2.326e-05	9.53e-06	3.713e-05	0.0003	1.674e-05	1.478e-05	0.0002	0.0002	0	0	0	0	0	0.0003	4.496e-06	1.656e-05	0.0003	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.173	0.22573	T	0.283	0.21478	T	0.799	0.44910	P	0.343	0.42509	B	0.022692	0.26585	N	0.327243	0.997122	0.43648	D	-0.345	0.03330	N	3.97	0.03326	T	-0.5	0.15782	N	0.197	0.21710	-0.6744	0.61629	T	0.008	0.02842	T	10	0.11747432	0.22187	T	0.014729	0.35036	T	0.160	0.41473	0.053	0.00123	0.393040851499	0.38920	0.24179215361159287	0.24093	0.783335030634	0.65391	0.623025178909	0.56157	T	0.090249	0.38544	T	-0.505769	0.00530	T	-0.67213	0.07472	T	0.205697030269748	0.20727	T	0.855914	0.54393	D	0.06763022	0.14661	0.05058491	0.07968	0.06763022	0.14661	0.05058491	0.07967	-4.755	0.34062	T	.	.	0.197	0.41888	B	.	.	4.344576	0.66682	25.0	0.9938561012673589	0.62113	0.97306	0.73923	D	AEFBCI	0.737308	0.68254	D	0.215432204125753	0.51946	3.37217	0.328954396723702	0.57246	3.889819	0.999999991015583	0.74766	0.706548	0.73137	0	0.563428	0.19063	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.47	4.47	0.53770	7.233000	0.77589	11.889000	0.99041	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.8359:0.1641	12.756	0.56708	234	0.90879	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2325.98	56	chr5	72198495	.	G	A	2325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.446e+00;DP=1324;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=1.01;SOR=0.689	GT:AD:DP:GQ:PL	0/1:84,86:170:99:2340,0,2352	20	0	1	0
chr5	72456495	72456495	T	C	exonic	ZNF366	.	nonsynonymous SNV	ZNF366:NM_152625:exon3:c.A1433G:p.Q478R,	.	.	.	.	.	.	.	.	.	.	.	3357675	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.999	D	0.979	D	0.002	N	1.000	D	1.18	L	3.2	T	-1.167	T	0.049	T	0.765	4.835	27.5	5.68	2.185	8.040	15.972	0.321	0.0170091705034	.	.	6.59e-05	0	0	0	0	2.997e-05	0	0.0004	5.17e-05	8	154602	rs745560582	2.6e-05	2.599e-05	1.225e-05	3.988e-05	0.0003	1.933e-05	1.692e-05	0.0002	0.0002	0	0	0	0	0	0.0003	7.195e-06	3.312e-05	0.0003	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.061	0.37118	T	0.034	0.52727	D	0.999	0.77913	D	0.979	0.74454	D	0.002016	0.37457	N	0.190765	1	0.81001	D	0.425	0.12573	N	3.2	0.07236	T	-2.83	0.59710	D	0.717	0.71942	-1.1672	0.00595	T	0.049	0.21026	T	10	0.69262	0.71948	D	0.017009	0.38529	T	0.321	0.64318	0.524	0.62818	0.732035667196	0.72965	0.6784323814528073	0.67782	1.55229918179	0.87922	0.877080321312	0.93564	D	0.015101	0.12732	T	-0.168331	0.25488	T	-0.187424	0.55831	T	0.335184305906296	0.26432	T	0.836816	0.50885	T	0.306566	0.53487	0.2977957	0.55813	0.306566	0.53487	0.2977957	0.55812	-10.526	0.76996	D	.	.	0.493	0.64256	A	.	.	4.315825	0.66008	24.9	0.99825631955135852	0.90764	0.96991	0.72062	D	AEFDBHCI	0.956630	0.97529	D	0.689210380351839	0.78925	6.970884	0.716686168784428	0.83645	8.076636	1.0	0.98316	0.65861	0.49226	0	0.588066	0.40923	0	0.68496	0.61776	0	0.345915	0.05782	2	.	.	5.68	5.68	0.88021	8.017000	0.88732	7.858000	0.71298	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.972	0.79816	820	0.40914	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1172.98	33	chr5	72456495	.	T	C	1172.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.090e+00;DP=804;ExcessHet=0.0000;FS=0.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.94;ReadPosRankSum=0.210;SOR=0.585	GT:AD:DP:GQ:PL	0/1:68,50:118:99:1187,0,1844	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	0/1:64,16:80:79:79,0,1506	11	0	10	0
chr5	80654889	80654898	TGCAGCGGCC	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	2303.18	64	chr5	80654889	.	TGCAGCGGCC	T,*,CGCAGCGGCC	2303.18	.	AC=1,15,1;AF=0.024,0.357,0.024;AN=42;BaseQRankSum=0.767;DP=1593;ExcessHet=2.4516;FS=3.537;InbreedingCoeff=-0.0871;MLEAC=1,15,1;MLEAF=0.024,0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=2.07;ReadPosRankSum=0.503;SOR=0.970	GT:AD:DP:GQ:PL	0/2:30,0,55,0:85:99:2063,2153,3400,0,1246,1079,2153,3400,1246,3400	7	0	1	0
chr5	94653297	94653297	A	C	exonic	SLF1	.	nonsynonymous SNV	SLF1:NM_032290:exon8:c.A908C:p.D303A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.084	B	0.034	B	0.554	N	0.997	N	1.24	L	0.9	T	-1.003	T	0.081	T	0.157	1.547	11.13	1.88	0.279	1.623	6.310	0.035	0.0237467521005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.055	0.46862	T	0.084	0.24799	B	0.034	0.22546	B	0.554363	0.11402	N	0.753193	0.997451	0.22652	N	.	.	.	0.9	0.45248	T	-0.64	0.18670	N	0.17	0.18103	-1.0033	0.28963	T	0.081	0.32119	T	10	0.081843376	0.13442	T	0.023747	0.46723	T	0.035	0.08770	0.172	0.07774	0.338110398507	0.33423	0.11854980926704137	0.11781	0.107536027584	0.12137	0.352903664112	0.18348	T	0.070931	0.34083	T	-0.197107	0.21222	T	-0.520907	0.20202	T	0.148288995027542	0.16966	T	0.614838	0.23473	T	0.08865245	0.20687	0.07241699	0.15620	0.08865245	0.20686	0.07241699	0.15620	-5.95	0.45859	T	.	.	0.141	0.30868	B	.	.	2.469665	0.31833	18.86	0.98297234926802002	0.40011	0.80129	0.39850	D	AEFBI	0.060334	0.11458	N	-0.633361643323435	0.17948	0.9279462	-0.590047746383198	0.19752	1.061169	0.815653968368636	0.24434	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.31	1.88	0.24630	1.377000	0.33923	.	.	-0.054000	0.16847	0.892000	0.31242	1.000000	0.68203	0.963000	0.52385	0.7892:0.0:0.2108:0.0	6.310	0.20364	864	0.32732	.	.	.	.	.	.	Uncertain significance	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	578.98	34	chr5	94653297	.	A	C	578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.26;DP=725;ExcessHet=0.0000;FS=7.039;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=0.907;SOR=2.030	GT:AD:DP:GQ:PL	0/1:31,20:51:99:593,0,872	20	0	1	0
chr5	109378481	109378481	G	A	exonic	PJA2	.	nonsynonymous SNV	PJA2:NM_014819:exon4:c.C1006T:p.H336Y,	.	.	433	1082	6	1	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.979	D	0.592	P	0.003	N	0.612	N	1.61	L	3.45	T	-1.123	T	0.024	T	0.415	3.504	17.91	4.68	2.793	2.135	7.889	0.098	0.00552959991739	7.7e-05	0.000399361	0.0001	9.619e-05	0	0	0	0.0002	0	0.0002	0.0001294	20	154602	rs375102754	0.0001	0.0001	7.895e-05	0.0001	0.0017	9.091e-05	8.598e-05	0.0009	0.0007	8.961e-05	6.708e-05	0	0	0.0001	0.0017	9.353e-05	0.0003	5.797e-05	0.0001	0.0002	0.0001	0.0002	0.0008	9.74e-05	8.255e-05	0.0003	0.0002	2.407e-05	0	0.0003	0	0	0	0.0068	0.0001	0	0.0008	0.023	0.48186	D	0.019	0.59159	D	0.979	0.59044	D	0.592	0.50503	P	0.002983	0.35606	N	0.251039	0.61184	0.30854	N	2.2	0.62015	M	3.45	0.05311	T	-1.42	0.34992	N	0.236	0.26957	-1.1229	0.02156	T	0.024	0.10194	T	10	0.057655722	0.06656	T	0.00553	0.14258	T	0.098	0.28162	.	.	0.327419511103	0.32360	0.10284054301612591	0.10214	0.0453608421685	0.04917	0.565266728401	0.48010	T	0.042011	0.26046	T	-0.321178	0.06801	T	-0.429826	0.29954	T	0.0929087474942207	0.11559	T	0.806819	0.45619	T	0.077267714	0.17527	0.108440734	0.26123	0.077267714	0.17527	0.108440734	0.26122	-3.969	0.23338	T	.	.	0.122	0.25495	B	.;.	.;.	4.345274	0.66695	25.0	0.9976064739840399	0.85011	0.93306	0.57865	D	AEFGBI	0.318392	0.42211	N	0.505682274259388	0.67425	5.079942	0.536418007049619	0.70459	5.50823	0.99621926075992	0.34598	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.61	4.68	0.58319	2.369000	0.43884	8.256000	0.76869	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.2849:0.4762:0.2388	7.889	0.28832	943	0.12886	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2312.98	93	chr5	109378481	.	G	A	2312.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.035e+00;DP=1943;ExcessHet=0.0000;FS=5.199;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.091;SOR=0.842	GT:AD:DP:GQ:PL	0/1:89,94:183:99:2327,0,2382	20	0	1	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	1/1:0,155,0,0:155:99:4340,464,0,4340,464,4340,4340,464,4340,4340	0	7	7	0
chr5	113488351	113488351	-	GCCGCTGCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.63_64insGGCAGCGGC:p.G21_S22insGSG,	Colorectal cancer, somatic	.	0	73	103	46	4	199	0.571848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3783	.	0.0057	0	0	0.0032	0	0.0008	0	0.0260	0.0009989	26	26028	rs531679771	0.0043	0.0048	0.0037	0.0049	0.0326	0.0042	0.0042	0.0314	0.0310	0.0004	0.0013	0.0091	0.0236	0.0006	0.0039	0.0021	0.0049	0.0326	0.0037	0.0038	0.0029	0.0045	0.0508	0.0035	0.0034	0.0456	0.0436	0.0008	0	0.0018	0.0098	0.0124	0.0004	0	0.0022	0.0048	0.0508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	37732.13	76	chr5	113488351	.	T	TGCC,TGCCGCTGCC	37732.13	.	AC=22,1;AF=0.524,0.024;AN=42;BaseQRankSum=0.319;DP=2449;ExcessHet=5.5923;FS=0.563;InbreedingCoeff=-0.2494;MLEAC=22,1;MLEAF=0.524,0.024;MQ=60.00;MQRankSum=0.00;QD=25.19;ReadPosRankSum=0.315;SOR=0.655	GT:AD:DP:GQ:PL	1/1:0,98,0:98:99:4078,292,0,4079,293,4081	3	5	12	0
chr5	116015368	116015368	-	ATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2567_2568insATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC:p.Q857_T990delinsYIYIWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0003	0.0002	0.0004	0.0008	0.0003	0.0011	0.0022	3.84e-05	1	26028	rs760127445	0.0002	0.0007	0.0001	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0003	0	0.0002	0.0003	0.0003	6.589e-06	0.0003	1.289e-05	0	1.476e-05	0	0	.	.	0	0	0	0	0	0	0	1.476e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	984.49	110	chr5	116015368	.	T	TATATATATATATATGGAAC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA	984.49	.	AC=1,1,2,1;AF=0.024,0.024,0.048,0.024;AN=42;BaseQRankSum=0.519;DP=1335;ExcessHet=1.1607;FS=35.459;InbreedingCoeff=-0.1351;MLEAC=1,1,2,1;MLEAF=0.024,0.024,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.10;ReadPosRankSum=-2.189e+00;SOR=4.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,12,0,0,0:80:99:0|1:116015368_T_TATATATATATATATGGAAC:233,0,2823,442,2860,3302,442,2860,3302,3302,442,2860,3302,3302,3302:116015368	16	0	1	0
chr5	116015368	116015368	-	ATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2567_2568insATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG:p.Q857Yfs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0006	0.0003	0.0001	0.0003	0.0005	0	0.0021	3.84e-05	1	26028	rs760127445	0.0002	0.0006	0.0001	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	9.111e-05	0.0002	0.0001	0.0001	0.0006	0	0.0002	0.0002	0.0002	0.0001	0.0016	9.04e-05	0.0001	0.0002	7.612e-05	6.311e-05	0.0001	7.945e-05	4.827e-05	0	0	0	0.0002	0.0002	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	984.49	110	chr5	116015368	.	T	TATATATATATATATGGAAC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA	984.49	.	AC=1,1,2,1;AF=0.024,0.024,0.048,0.024;AN=42;BaseQRankSum=0.519;DP=1335;ExcessHet=1.1607;FS=35.459;InbreedingCoeff=-0.1351;MLEAC=1,1,2,1;MLEAF=0.024,0.024,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.10;ReadPosRankSum=-2.189e+00;SOR=4.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,12,0,0,0:80:99:0|1:116015368_T_TATATATATATATATGGAAC:233,0,2823,442,2860,3302,442,2860,3302,3302,442,2860,3302,3302,3302:116015368	16	0	1	0
chr5	116015368	116015368	-	ATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2567_2568insATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA:p.Q857Yfs*7,	.	.	435	1072	3	0	12	15	0.0013973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.857e-05	8.687e-05	1.94e-05	3.786e-05	0.0002	2.126e-05	1.913e-05	9.71e-06	7.73e-06	0	2.327e-05	0	0	0.0003	0.0002	1.552e-05	1.684e-05	3.656e-05	6.593e-06	0.0002	0	1.35e-05	1.475e-05	0	0	.	.	0	0	0	0	0	0	0	1.475e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	984.49	110	chr5	116015368	.	T	TATATATATATATATGGAAC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA	984.49	.	AC=1,1,2,1;AF=0.024,0.024,0.048,0.024;AN=42;BaseQRankSum=0.519;DP=1335;ExcessHet=1.1607;FS=35.459;InbreedingCoeff=-0.1351;MLEAC=1,1,2,1;MLEAF=0.024,0.024,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.10;ReadPosRankSum=-2.189e+00;SOR=4.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,12,0,0,0:80:99:0|1:116015368_T_TATATATATATATATGGAAC:233,0,2823,442,2860,3302,442,2860,3302,3302,442,2860,3302,3302,3302:116015368	16	0	1	0
chr5	116015370	116015370	-	TCACAGATGCTGGCTA	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2569_2570insTCACAGATGCTGGCTA:p.Q857Lfs*6,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	9.94e-05	0	0	0.0002	0	0	3.84e-05	1	26028	rs749164698	4.499e-06	0.0004	4.446e-06	4.552e-06	1.409e-05	1.62e-06	1.06e-06	.	.	0	0	0	0	9.164e-05	0	0	1.798e-05	1.409e-05	7.727e-06	0.0006	1.498e-05	0	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	436.45	39	chr5	116015370	.	C	CTCACAGATGCTGGCTA,A	436.45	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=1.28;DP=1348;ExcessHet=0.3300;FS=41.519;InbreedingCoeff=-0.0783;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=1.65;ReadPosRankSum=-1.755e+00;SOR=3.595	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:68,0,11:79:99:0|1:116015368_T_TATATATATATATATGGAAC:192,400,3259,0,2859,2826:116015368	18	0	2	0
chr5	119499449	119499449	T	C	exonic	HSD17B4	.	nonsynonymous SNV	HSD17B4:NM_001199292:exon12:c.T1051C:p.S351P	D-bifunctional protein deficiency, Autosomal recessive;Perrault syndrome 1, Autosomal recessive	.	2	1519	1	0	0	1	0.000329056	.	.	586310	HSD17B4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.003	B	0.004	B	0.207	N	0.988	N	0.55	N	-1.75	D	-0.897	T	0.264	T	0.158	2.319	13.71	-0.052	0.043	0.698	4.261	0.119	0.0202688819982	.	.	1.649e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs781084978	3.496e-05	0.0004	3.764e-05	3.226e-05	0.0002	2.69e-05	2.427e-05	2.903e-05	2.574e-05	6.084e-05	0	0	2.53e-05	0	0.0002	3.878e-05	1.684e-05	3.505e-05	1.314e-05	1.313e-05	2.57e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.242	0.22312	T	0.221	0.33109	T	0.001	0.11197	B	0.004	0.10090	B	0.207218	0.16453	N	0.644539	0.998062	0.24425	N	0.475	0.13142	N	-1.75	0.83495	D	-1.61	0.39314	N	0.175	0.23380	-0.8970	0.48293	T	0.264	0.63501	T	10	0.10314271	0.18945	T	0.020269	0.42829	T	0.119	0.33137	0.362	0.36711	0.824880002343	0.82322	0.5836028072308838	0.58289	0.0727130368711	0.08147	0.366561591625	0.20337	T	0.11293	0.42958	T	-0.102227	0.36054	T	-0.320973	0.42469	T	0.054950729434631	0.06349	T	0.766723	0.42712	T	0.19631228	0.41454	0.13157105	0.31591	0.19631228	0.41454	0.13157105	0.31590	-2.563	0.06901	T	0.09032067692630434	0.05612	0.076	0.05845	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.009926	0.25536	16.80	0.98932034170165739	0.48769	0.68143	0.33691	D	AEFBI	0.580553	0.58092	D	-0.52650164453884	0.21227	1.124927	-0.381430793229907	0.25551	1.40583	0.0673286344376866	0.15422	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.49	-0.052	0.13154	0.865000	0.27595	1.506000	0.26990	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1112:0.0816:0.4962:0.311	4.261	0.10188	920	0.19381	N-terminal of MaoC-like dehydratase;.;N-terminal of MaoC-like dehydratase;.;.;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase	.	.	.	.	.	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	785.45	37	chr5	119499449	.	T	C	785.45	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-2.748e+00;DP=1279;ExcessHet=2.5830;FS=149.385;InbreedingCoeff=-0.1971;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=1.39;ReadPosRankSum=1.58;SOR=9.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,17:86:99:0|1:119499447_G_C:177,0,1923:119499447	14	0	7	0
chr5	124701214	124701214	G	A	exonic	ZNF608	.	nonsynonymous SNV	ZNF608:NM_001385621:exon2:c.C98T:p.T33M	.	.	438	1075	9	0	0	9	0.0041686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.653	P	0.251	B	0.062	N	1.000	D	0	N	0.83	T	-0.907	T	0.065	T	0.473	4.025	20.6	5.93	2.826	4.244	20.354	0.139	0.00653882320668	0.0025	0.00119808	0.0024	0.0004	0.0006	0	0.0009	0.0036	0.0044	0.0018	0.0001153	3	26028	rs61752319	0.0029	0.0029	0.0028	0.0029	0.0040	0.0028	0.0028	0.0030	0.0030	0.0006	0.0009	0.0100	0	0.0009	0.0040	0.0031	0.0028	0.0023	0.0022	0.0022	0.0021	0.0024	0.0032	0.0020	0.0020	0.0029	0.0027	0.0005	0.0285	0.0016	0.0078	0	0.0004	0.0034	0.0032	0.0038	0.0025	0.001	0.78490	D	0.007	0.69154	D	0.653	0.40782	P	0.251	0.39041	B	0.062308	0.22106	N	0.468620	0.601105	0.81001	D	1.24	0.30952	L	0.83	0.47815	T	-1.02	0.32991	N	0.332	0.37301	-0.9071	0.47203	T	0.065	0.27017	T	10	0.005864769	0.00131	T	0.006539	0.17243	T	0.139	0.37390	.	.	0.168254554758	0.16434	0.5499942946604218	0.54925	1.43300071254	0.85839	0.465158849955	0.34017	T	0.025329	0.30851	T	-0.353787	0.04494	T	-0.283388	0.46457	T	0.0485791967406243	0.05248	T	0.90471	0.66491	D	0.07214024	0.16026	0.10775087	0.25945	0.07214024	0.16026	0.10775087	0.25945	-4.742	0.33908	T	.	.	0.090	0.14614	B	.;.;.;.	.;.;.;.	4.553752	0.71695	25.7	0.9988956845974768	0.96359	0.94084	0.60064	D	AEFDGBI	0.495553	0.53087	N	0.235761028442174	0.52940	3.465171	0.408047958906541	0.62064	4.415873	0.999999999984191	0.74766	0.741868	0.97996	0	0.80507	0.99744	0	0.774882	0.98623	0	0.635551	0.53088	0	.	.	5.93	5.93	0.95888	6.430000	0.73316	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.354	0.98826	942	0.12992	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1133.98	35	chr5	124701214	.	G	A	1133.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.279e+00;DP=798;ExcessHet=0.0000;FS=2.492;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.22;ReadPosRankSum=-7.430e-01;SOR=0.476	GT:AD:DP:GQ:PL	0/1:62,49:111:99:1148,0,1653	20	0	1	0
chr5	128288437	128288437	C	T	splicing	FBN2	NM_001999:exon53:c.6757+1G>A	.	.	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2672326	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.638	25.4	4.86	2.698	7.609	18.546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462192	0.93022	D	0.426131	0.92935	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.706657	0.93146	33	0.9956273049014901	0.71892	0.99610	0.97961	D	AEFBI	.	.	.	1.14852595648222	0.98936	19.94604	0.987184040390611	0.98363	18.07802	0.999999999969448	0.74766	0.163922	0.03765	0	0.063388	0.01293	0	0.175069	0.04249	0	0.24341	0.04801	0	0.987168	0.95559	4.86	4.86	0.62624	7.905000	0.86479	7.672000	0.64834	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	998.3	81	chr5	128288437	.	C	T,G	998.3	.	AC=2,4;AF=0.050,0.100;AN=40;BaseQRankSum=-2.166e+00;DP=1550;ExcessHet=1.7912;FS=154.586;InbreedingCoeff=-0.2036;MLEAC=2,4;MLEAF=0.050,0.100;MQ=60.00;MQRankSum=0.00;QD=1.63;ReadPosRankSum=1.36;SOR=9.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:102,17,0:119:49:.:.:49,0,2869,353,2919,3272	14	0	2	1
chr5	128288437	128288437	C	G	splicing	FBN2	NM_001999:exon53:c.6757+1G>C	.	.	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.514	24.3	4.86	2.698	7.609	18.546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	1.3e-05	1.363e-06	0	.	0	0	.	.	0	0	3.828e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.452291	0.92585	D	0.411908	0.92493	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.587977	0.92356	32	0.99542283063003867	0.70586	0.99662	0.98450	D	AEFBI	.	.	.	1.14852595648222	0.98936	19.94604	0.987184040390611	0.98363	18.07802	0.999999999969448	0.74766	0.163922	0.03765	0	0.063388	0.01293	0	0.175069	0.04249	0	0.24341	0.04801	0	0.987168	0.95559	4.86	4.86	0.62624	7.905000	0.86479	7.672000	0.64834	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	998.3	81	chr5	128288437	.	C	T,G	998.3	.	AC=2,4;AF=0.050,0.100;AN=40;BaseQRankSum=-2.166e+00;DP=1550;ExcessHet=1.7912;FS=154.586;InbreedingCoeff=-0.2036;MLEAC=2,4;MLEAF=0.050,0.100;MQ=60.00;MQRankSum=0.00;QD=1.63;ReadPosRankSum=1.36;SOR=9.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:102,17,0:119:49:.:.:49,0,2869,353,2919,3272	14	0	2	1
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	0/1:95,17:116:50:.:.:50,0,2832	1	0	11	9
chr5	132861983	132861983	A	C	exonic	GDF9	.	nonsynonymous SNV	GDF9:NM_005260:exon2:c.T971G:p.V324G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.002	B	0.003	B	0.150	N	1.000	N	1.845	L	-1.33	T	-0.922	T	0.363	T	0.058	2.165	13.20	-1.6	-0.085	-0.572	4.729	0.166	0.0106358426687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.16466	T	0.432	0.14075	T	0.002	0.09854	B	0.003	0.08700	B	0.150494	0.02958	N	1.562250	1	0.08975	N	1.385	0.34509	L	-1.33	0.79854	T	-1.03	0.27052	N	0.121	0.11483	-0.9223	0.45238	T	0.363	0.72415	T	10	0.09443137	0.16789	T	0.010636	0.27409	T	0.166	0.42578	0.292	0.25400	0.64471023102	0.64176	0.508826709791671	0.50804	0.0441823419456	0.04759	0.281662344933	0.07725	T	0.281835	0.65457	T	-0.208574	0.19580	T	-0.537378	0.18555	T	0.10349964350462	0.12738	T	0.438556	0.12115	T	0.06340477	0.13347	0.054597985	0.09422	0.06340477	0.13347	0.054597985	0.09421	-2.517	0.05898	T	.	.	0.082	0.09288	B	.;.;.;.;.	.;.;.;.;.	0.007831	0.04336	1.104	0.86156078967266858	0.16350	0.10712	0.16140	N	AEFBI	0.168619	0.29539	N	-1.02155332311184	0.08158	0.3815017	-1.04433652126651	0.08826	0.4358424	0.999682901908991	0.41756	0.554377	0.28877	0	0.588066	0.40923	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	5.4	-1.6	0.07977	-0.573000	0.05966	-0.169000	0.11245	-0.054000	0.16847	0.000000	0.06391	0.000000	0.08366	0.957000	0.51019	0.4035:0.3315:0.265:0.0	4.729	0.12334	909	0.22467	Transforming growth factor-beta, C-terminal;Transforming growth factor-beta, C-terminal;Transforming growth factor-beta, C-terminal;Transforming growth factor-beta, C-terminal;Transforming growth factor-beta, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1542.98	33	chr5	132861983	.	A	C	1542.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=843;ExcessHet=0.0000;FS=1.379;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=-2.950e-01;SOR=0.577	GT:AD:DP:GQ:PL	0/1:74,57:131:99:1557,0,2024	20	0	1	0
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	0/2:2,0,2:4:37:.:.:37,43,87,0,43,37	6	1	0	10
chr5	141173766	141173766	G	C	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931C:p.A311P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.758	P	0.516	P	.	.	1.000	N	1.855	L	4.57	T	-0.969	T	0.012	T	0.448	1.619	11.37	2.79	0.455	-0.994	4.291	0.054	0.0073481168098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	1.163e-05	0	1.376e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.088	0.40586	T	0.758	0.43456	P	0.516	0.48072	P	.	.	.	.	1	0.08975	N	1.905	0.50856	L	4.57	0.01917	T	-1.9	0.44284	N	0.19	0.20793	-0.9688	0.37448	T	0.012	0.04463	T	9	0.14442283	0.27407	T	0.007348	0.19496	T	0.054	0.15330	0.24	0.17218	0.297718772494	0.29385	0.23022774839758178	0.22937	0.259062600134	0.28458	0.285979688168	0.08340	T	0.007225	0.06645	T	-0.192082	0.21952	T	-0.513689	0.20937	T	0.239479869604111	0.22395	T	0.0113989	0.00062	T	0.14268309	0.32824	0.21860704	0.46570	0.14268309	0.32824	0.21860704	0.46569	-8.191	0.62365	D	.	.	0.557	0.67107	A	.	.	1.047924	0.14288	10.87	0.99254472283569606	0.56989	0.18010	0.20081	N	AEFDBI	0.376982	0.46093	N	-0.355294400045894	0.27079	1.482807	-0.435194067126652	0.23971	1.310156	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2917	971.06	186	chr5	141173766	.	G	C,A	971.06	.	AC=5,2;AF=0.208,0.083;AN=24;BaseQRankSum=-4.234e+00;DP=3548;ExcessHet=2.5830;FS=244.867;InbreedingCoeff=-0.3782;MLEAC=7,3;MLEAF=0.292,0.125;MQ=60.00;MQRankSum=0.00;QD=0.77;ReadPosRankSum=0.532;SOR=10.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:138,15,45:198:99:.:.:212,332,3364,0,2863,2915	5	0	5	9
chr5	141173766	141173766	G	A	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931A:p.A311T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.002	B	0.006	B	.	.	1.000	N	-0.505	N	4.98	T	-0.901	T	0.002	T	0.037	-0.559	1.475	2.79	0.455	-0.994	4.291	0.017	0.00591327826065	.	.	2.478e-05	9.839e-05	8.639e-05	0	0	0	0	6.072e-05	3.23e-05	5	154602	rs201447017	4.724e-05	4.721e-05	5.722e-05	3.716e-05	6.725e-05	3.797e-05	3.479e-05	4.009e-05	3.661e-05	5.986e-05	6.725e-05	0	0	0	0	5.13e-05	9.943e-05	1.16e-05	8.561e-05	8.542e-05	0.0001	5.395e-05	0.0001	4.968e-05	3.971e-05	6.299e-05	4.31e-05	0.0001	0	6.553e-05	0	0	0	0	7.357e-05	0.0005	0	0.798	0.03134	T	0.395	0.15255	T	0.002	0.09854	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.075	0.08292	N	4.98	0.01344	T	0.37	0.03639	N	0.033	0.00882	-0.9010	0.47889	T	0.002	0.00769	T	9	0.028985262	0.01027	T	0.005913	0.15400	T	0.017	0.02790	0.197	0.10975	0.167679373172	0.16340	0.04559477965422199	0.04503	0.115026090571	0.12974	0.266463220119	0.05685	T	9.28E-4	0.00478	T	-0.542484	0.00324	T	-0.820046	0.01452	T	0.00890818803132437	0.00111	T	0.0506449	0.00361	T	0.02743792	0.01935	0.058982458	0.10991	0.02743792	0.01935	0.058982458	0.10991	-3.738	0.19880	T	.	.	0.072	0.04277	B	.	.	0.118537	0.05166	1.684	0.78187323793622165	0.12193	0.06778	0.12801	N	AEFDBI	0.084714	0.17170	N	-1.0643960782247	0.07308	0.3390868	-0.930179356539086	0.11384	0.5796107	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2917	971.06	186	chr5	141173766	.	G	C,A	971.06	.	AC=5,2;AF=0.208,0.083;AN=24;BaseQRankSum=-4.234e+00;DP=3548;ExcessHet=2.5830;FS=244.867;InbreedingCoeff=-0.3782;MLEAC=7,3;MLEAF=0.292,0.125;MQ=60.00;MQRankSum=0.00;QD=0.77;ReadPosRankSum=0.532;SOR=10.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:138,15,45:198:99:.:.:212,332,3364,0,2863,2915	5	0	5	9
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.001	B	0.941	N	1.000	N	-1.57	N	-1.1	T	-1.019	T	0.099	T	0.051	-1.282	0.042	-1.96	-0.413	0.139	0.421	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4688	11030.59	183	chr5	141303079	.	C	G,T	11030.59	.	AC=13,2;AF=0.406,0.063;AN=32;BaseQRankSum=-5.525e+00;DP=4228;ExcessHet=17.4423;FS=211.915;InbreedingCoeff=-0.7194;MLEAC=15,2;MLEAF=0.469,0.063;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.978;SOR=13.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:148,34,15:197:99:.:.:647,0,5151,225,5129,5405	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	0/1:148,34,15:197:99:.:.:647,0,5151,225,5129,5405	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	0/1:148,52:200:99:.:.:787,0,5119	1	0	20	0
chr5	141355264	141355264	G	T	exonic	PCDHGA4	.	nonsynonymous SNV	PCDHGA4:NM_018917:exon1:c.G157T:p.V53F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0225627554504	0.0027	0.00119808	0.0005	0.0066	0.0002	0	0	0	0	0	0.0005045	78	154602	rs201894028	0.0002	0.0002	0.0002	0.0001	0.0052	0.0001	0.0001	0.0046	0.0044	0.0052	0.0004	0	0	0	0	5.396e-06	0.0006	0	0.0020	0.0020	0.0021	0.0018	0.0065	0.0018	0.0017	0.0059	0.0056	0.0065	0	0.0012	0	0	0	0	2.94e-05	0.0024	0.0002	.	.	.	0.402	0.16473	T	.	.	.	.	.	.	.	.	.	.	0.984586	0.40165	D	.	.	.	.	.	.	.	.	.	0.074	0.04913	.	.	.	.	.	.	.	0.006420195	0.00145	T	0.022563	0.45460	T	.	.	.	.	0.638638447811	0.63566	0.2350518243962854	0.23420	0.390049637415	0.40229	.	.	.	.	.	.	-0.503822	0.00544	T	-0.493731	0.23001	T	.	.	.	0.0916908	0.00679	T	0.042650994	0.06507	0.07883799	0.17694	0.042650994	0.06506	0.07883799	0.17694	-4.308	0.28288	T	.	.	0.062	0.01348	B	.;.	.;.	0.874362	0.12472	9.005	0.66639371078029497	0.08118	0.07143	0.13168	N	AEFDBHCI	0.037863	0.05272	N	.	.	.	.	.	.	0.999700859383152	0.41986	0.455138	0.09556	0	0.547309	0.14657	0	0.578056	0.29568	0	0.56751	0.32155	0	.	.	5.65	-3.09	0.05006	-0.058000	0.11707	.	.	-1.616000	0.00874	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2523:0.0:0.1604:0.5873	5.759	0.17457	638	0.64280	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1169.98	33	chr5	141355264	.	G	T	1169.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.210e-01;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=-8.230e-01;SOR=0.694	GT:AD:DP:GQ:PL	0/1:65,47:112:99:1184,0,1825	20	0	1	0
chr5	141398905	141398905	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A778G:p.T260A	.	.	427	1087	8	0	0	8	0.00366636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.000798722	0.0011	0.0001	0.0006	0	0	0.0017	0.0011	0.0004	0.0010543	163	154602	rs200564636	0.0012	0.0012	0.0012	0.0012	0.0033	0.0012	0.0012	0.0022	0.0018	0.0002	0.0008	0.0062	0	9.369e-05	0.0033	0.0013	0.0014	0.0003	0.0009	0.0009	0.0010	0.0008	0.0015	0.0008	0.0008	0.0013	0.0012	0.0002	0	0.0003	0.0061	0	0	0.0068	0.0015	0.0019	0	.	.	.	0.514	0.10967	T	0.001	0.07471	B	0.003	0.11217	B	.	.	.	.	1	0.08975	N	1.055	0.26876	L	.	.	.	.	.	.	0.029	0.01004	.	.	.	.	.	.	.	0.0033990443	0.00059	T	.	.	.	.	.	.	.	0.0482279557977	0.04254	0.1553760204370965	0.15458	.	.	.	.	.	0.011156	0.09990	T	-0.565557	0.00235	T	-0.609787	0.12003	T	.	.	.	0.106489	0.00795	T	0.03640101	0.04471	0.064445935	0.12916	0.03640101	0.04471	0.064445935	0.12916	-6.287	0.48619	T	.	.	0.057	0.00604	B	.;.	.;.	-0.612930	0.01537	0.099	0.21993172768350247	0.00864	0.02024	0.06075	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999895559377	0.74766	0.145562	0.03210	1	0.18701	0.04157	0	0.072005	0.02045	0	0.234357	0.04698	0	0.0559214	0.13108	4.89	-9.77	0.00416	-6.726000	0.00069	.	.	-0.982000	0.01892	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1889:0.2653:0.2771:0.2687	0.989	0.01362	809	0.43032	.;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	2521.98	118	chr5	141398905	.	A	G	2521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.080e-01;DP=1580;ExcessHet=0.0000;FS=3.021;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=0.267;SOR=0.905	GT:AD:DP:GQ:PL	0/1:116,102:218:99:2536,0,3054	20	0	1	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	4374.45	280	chr5	141400463	.	A	G	4374.45	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-6.509e+00;DP=4902;ExcessHet=17.4423;FS=250.847;InbreedingCoeff=-0.5560;MLEAC=15;MLEAF=0.357;MQ=59.98;MQRankSum=0.00;QD=1.01;ReadPosRankSum=0.940;SOR=14.362	GT:AD:DP:GQ:PL	0/1:205,76:281:99:275,0,4516	6	0	15	0
chr5	141418821	141418821	C	A	exonic	PCDHGB7	.	nonsynonymous SNV	PCDHGB7:NM_018927:exon1:c.C962A:p.A321E	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	0.110	U	1.000	D	4.6	H	-0.98	T	0.854	D	0.744	D	0.835	2.779	15.25	3.52	0.526	3.148	13.317	0.682	0.0739927211298	.	.	0	0	0	0	0	0	0	0	2.59e-05	4	154602	rs750200042	8.895e-06	8.893e-06	9.53e-06	8.253e-06	0.0002	4.96e-06	3.82e-06	4.55e-06	3.32e-06	0	2.237e-05	0	0	1.873e-05	0.0002	8.995e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.90584	D	0.982	0.81110	D	0.110018	0.19460	U	0.253980	1	0.81001	D	4.745	0.99558	H	-0.98	0.75789	T	-4.93	0.81755	D	0.769	0.78927	0.854	0.95074	D	0.744	0.91263	D	10	0.93289655	0.92625	D	0.073993	0.71929	D	0.682	0.88348	0.779	0.90388	0.958068906754	0.95761	0.6095610832549095	0.60888	1.41574907995	0.85519	.	.	.	0.42354	0.77426	T	0.24953	0.78557	D	0.203522	0.83321	D	0.995834231376648	0.88157	D	0.776522	0.40874	T	0.8358538	0.86312	0.82271355	0.89713	0.8358538	0.86314	0.82271355	0.89713	-12.687	0.88821	D	.	.	0.915	0.85142	P	.;.	.;.	3.728181	0.53317	23.3	0.99212022874774741	0.55624	0.97438	0.74751	D	AEFBI	0.611562	0.59996	D	0.681619160126379	0.78427	6.869709	0.505157115207975	0.68336	5.206136	0.999999863395181	0.74766	0.676563	0.55306	0	0.593476	0.48661	0	0.673471	0.61138	0	0.600526	0.37237	0	.	.	5.7	3.52	0.39415	4.001000	0.56758	.	.	0.599000	0.40250	0.999000	0.42656	0.000000	0.08366	0.842000	0.39752	0.0:0.9096:0.0:0.0904	13.317	0.59853	819	0.41190	.;Cadherin-like|Cadherin-like|Cadherin-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	0.02381	3171.98	43	chr5	141418821	.	C	A	3171.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.799e+00;DP=1296;ExcessHet=0.0000;FS=4.515;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=0.244;SOR=0.637	GT:AD:DP:GQ:PL	0/1:105,121:226:99:3186,0,2731	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	0/1:106,25:144:5:5,0,2234	6	0	15	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	114730.68	413	chr5	157052557	.	C	*,CGTT	114730.68	.	AC=31,10;AF=0.738,0.238;AN=42;DP=11099;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=31,10;MLEAF=0.738,0.238;MQ=60.00;QD=11.64;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,220,304:524:99:.:.:22555,12351,11566,9042,0,8037	0	12	1	0
chr5	176371743	176371743	A	G	exonic	ARL10	.	nonsynonymous SNV	ARL10:NM_173664:exon4:c.A583G:p.M195V,	.	.	424	1086	10	2	0	14	0.00640439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.0	B	0.001	B	0.004	N	1.000	N	-1.77	N	0.05	T	-0.948	T	0.057	T	0.102	-0.249	2.802	-0.71	-0.331	0.195	6.211	0.050	.	0.0005	0.00139776	0.0020	0	0.0010	0	0	0.0010	0	0.0104	0.0016947	262	154602	rs143925981	0.0010	0.0010	0.0008	0.0013	0.0094	0.0010	0.0010	0.0089	0.0087	0.0001	0.0006	0.0070	5.038e-05	0	0.0028	0.0003	0.0016	0.0094	0.0008	0.0008	0.0007	0.0009	0.0085	0.0007	0.0007	0.0064	0.0057	0.0001	0	0.0010	0.0055	0	0	0.0068	0.0006	0.0009	0.0085	0.75	0.03587	T	0.73	0.05165	T	0.0	0.02946	B	0.001	0.04355	B	0.003856	0.00988	N	2.793670	0.999914	0.19599	N	-2.11	0.00152	N	0.05	0.61923	T	0.94	0.01529	N	0.089	0.06720	-0.9479	0.41330	T	0.057	0.23866	T	10	0.0022372305	0.00033	T	.	.	.	0.050	0.13987	.	.	0.455081427078	0.45129	0.4481407354553157	0.44732	0.464258406265	0.45902	0.230897173285	0.02035	T	0.01069	0.09625	T	-0.588691	0.00171	T	-0.610429	0.11950	T	0.00481901478009985	0.00052	T	0.550145	0.18957	T	0.039028455	0.05311	0.042416707	0.05048	0.039028455	0.05311	0.042416707	0.05048	0.068	0.00326	T	.	.	0.054	0.00334	B	.	.	-0.456283	0.02011	0.179	0.63170296156131933	0.07153	0.01677	0.05358	N	AEFDBI	0.019351	0.00664	N	-1.50154929814924	0.01840	0.08067487	-1.36416195918019	0.03642	0.1703006	0.999439475591971	0.39683	0.651	0.46895	0	0.708844	0.79440	0	0.566861	0.19136	0	0.635551	0.53088	0	.	.	5.39	-0.71	0.10668	-0.014000	0.12594	-0.554000	0.08512	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.895000	0.43227	0.4842:0.1296:0.3862:0.0	6.211	0.19843	474	0.77851	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1893.98	41	chr5	176371743	.	A	G	1893.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.26;DP=918;ExcessHet=0.0000;FS=1.962;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=-7.480e-01;SOR=0.854	GT:AD:DP:GQ:PL	0/1:88,74:162:99:1908,0,2041	20	0	1	0
chr5	178262240	178262240	C	G	exonic	COL23A1	.	nonsynonymous SNV	COL23A1:NM_173465:exon10:c.G652C:p.E218Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.997	D	0.968	D	0.060	N	0.580	N	0.92	L	-3.34	D	0.307	D	0.778	D	0.341	2.699	14.99	5.12	2.379	1.588	14.061	0.337	0.131448937508	0.0002	.	2.726e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs373132226	6.988e-06	7.524e-06	9.689e-06	4.234e-06	3.006e-05	3.53e-06	2.58e-06	3.14e-06	2.27e-06	3.006e-05	0	0	0	0	0	7.298e-06	0	1.227e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.13654	T	0.175	0.29945	T	0.997	0.70673	D	0.968	0.71741	D	0.059770	0.22298	N	0.415167	0.58	0.32367	D	1.355	0.33814	L	-3.37	0.94114	D	-1.03	0.27052	N	0.318	0.35832	0.307	0.87674	D	0.778	0.92471	D	10	0.2929101	0.46867	T	0.131449	0.81370	D	0.337	0.65913	.	.	0.921705345931	0.92091	0.1762137438614581	0.17540	0.400484656327	0.41048	0.350942790508	0.18060	T	0.170473	0.51823	T	-0.0526841	0.44040	T	-0.119145	0.61872	T	0.16323946416378	0.18108	T	0.940506	0.77585	D	0.1765181	0.38568	0.065812126	0.13393	0.1765181	0.38568	0.065812126	0.13393	-7.249	0.55832	T	.	.	0.079	0.20702	B	.;.	.;.	3.202729	0.43564	21.8	0.9969210273541711	0.79977	0.87015	0.46431	D	AEFDBI	0.325390	0.42699	N	0.193363652484796	0.50879	3.273928	0.19587428295299	0.49619	3.163057	0.949407616573617	0.27845	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.613276	0.41899	0	.	.	5.12	5.12	0.69459	1.004000	0.29423	3.152000	0.36530	0.537000	0.25018	0.979000	0.35152	1.000000	0.68203	0.928000	0.46473	0.0:1.0:0.0:0.0	14.061	0.64320	946	0.12043	.;.	.	.	.	.	.	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	584.98	35	chr5	178262240	.	C	G	584.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.210e-01;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.12;ReadPosRankSum=-1.408e+00;SOR=0.797	GT:AD:DP:GQ:PL	0/1:46,26:72:99:599,0,1218	20	0	1	0
chr5	179522611	179522611	C	0	exonic	C5orf60	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	21034.34	33	chr5	179522611	.	C	T,*	21034.34	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=-1.750e-01;DP=1073;ExcessHet=0.0378;FS=0.561;InbreedingCoeff=0.3964;MLEAC=13,1;MLEAF=0.361,0.028;MQ=58.35;MQRankSum=1.99;QD=28.08;ReadPosRankSum=-4.950e-01;SOR=0.788	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,106,0:106:99:1|1:179522611_C_T:4748,319,0,4748,319,4748:179522611	9	3	5	3
chr5	179522612	179522612	A	0	exonic	C5orf60	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	21034.34	33	chr5	179522612	.	A	G,*	21034.34	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=1.64;DP=1065;ExcessHet=0.0378;FS=0.561;InbreedingCoeff=0.3964;MLEAC=13,1;MLEAF=0.361,0.028;MQ=58.37;MQRankSum=1.99;QD=28.08;ReadPosRankSum=-4.910e-01;SOR=0.788	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,106,0:106:99:1|1:179522611_C_T:4748,319,0,4748,319,4748:179522611	9	3	5	3
chr5	180848896	180848896	A	G	exonic	ZFP62	.	nonsynonymous SNV	ZFP62:NM_001172638:exon2:c.T2599C:p.S867P	.	.	432	1087	2	1	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	0	N	3.15	T	-0.926	T	0.008	T	0.168	-0.802	0.671	0.724	0.124	1.013	2.962	0.045	0.00714634362171	0.0004	0.000399361	0.0011	0.0005	0	0	0	0.0025	0	0.0001	0.0001876	29	154602	rs150247342	0.0004	0.0004	0.0004	0.0004	0.0070	0.0003	0.0003	0.0053	0.0047	0.0004	0.0008	0.0081	0	0	0.0070	0.0002	0.0010	0.0002	0.0005	0.0005	0.0004	0.0006	0.0010	0.0004	0.0004	0.0006	0.0005	4.815e-05	0	0.0010	0.0072	0	0	0.0034	0.0004	0.0019	0.0010	0.982	0.06980	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.875	0.01443	N	3.15	0.07820	T	2.67	0.00196	N	0.098	0.10626	-0.9265	0.44645	T	0.008	0.02968	T	9	0.0034482777	0.00061	T	0.007146	0.18951	T	0.045	0.12272	.	.	0.0666544352282	0.05500	0.09881781728387663	0.09812	.	.	0.313918143511	0.12500	T	0.001308	0.00783	T	-0.547208	0.00303	T	-0.652718	0.08764	T	0.00595230368663102	0.00065	T	0.0166483	0.00092	T	0.087598875	0.20404	0.07070439	0.15055	0.087598875	0.20404	0.07070439	0.15054	-2.073	0.03470	T	.	.	0.076	0.05935	B	.;.	.;.	0.308280	0.06837	3.363	0.79240276267877896	0.12653	0.19886	0.20833	N	AEFDGBHI	0.148121	0.27194	N	-1.17876836878003	0.05321	0.2423169	-1.1340276282714	0.07058	0.3419225	0.0116187712262719	0.12211	0.634777	0.41761	0	0.653731	0.59785	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.48	0.724	0.17389	1.003000	0.29410	1.574000	0.27434	0.756000	0.94297	0.026000	0.20160	0.297000	0.24199	0.194000	0.21720	0.6209:0.0:0.1981:0.181	2.962	0.05534	906	0.23090	.;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	1243.98	33	chr5	180848896	.	A	G	1243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.371;DP=826;ExcessHet=0.0000;FS=5.621;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.03;ReadPosRankSum=0.265;SOR=0.668	GT:AD:DP:GQ:PL	0/1:74,50:124:99:1258,0,1934	20	0	1	0
chr6	7581408	7581408	G	A	exonic	DSP	.	nonsynonymous SNV	DSP:NM_004415:exon23:c.G5218A:p.E1740K,	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	.	0	1503	19	0	0	19	0.00628099	.	.	54093	Migraine|Primary_dilated_cardiomyopathy|Hemiplegia|Lethal_acantholytic_epidermolysis_bullosa|Arrhythmogenic_right_ventricular_dysplasia_8|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Long_QT_syndrome|DSP-related_disorder|Cardiomyopathy|Woolly_hair-skin_fragility_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy|not_provided|Cardiovascular_phenotype|not_specified	Human_Phenotype_Ontology:HP:0002076,Human_Phenotype_Ontology:HP:0007194,MONDO:MONDO:0005277,MedGen:C0149931|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|Human_Phenotype_Ontology:HP:0002301,MONDO:MONDO:0001170,MedGen:C0018991|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|.|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|MedGen:C3661900|MedGen:CN230736|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.39	T	0.962	D	0.173	B	0.000	D	1.000	D	1.1	L	-0.85	T	-0.875	T	0.140	T	0.729	1.687	11.60	5.09	1.496	3.140	17.082	0.307	0.0332187332085	0.0009	0.000399361	0.0012	0	0.0020	0	0.0003	0.0016	0.0022	0.0009	0.0012872	199	154602	rs142885240	0.0016	0.0016	0.0016	0.0016	0.0173	0.0015	0.0015	0.0146	0.0136	0.0004	0.0026	0.0013	0	0.0002	0.0173	0.0017	0.0016	0.0009	0.0010	0.0010	0.0010	0.0009	0.0023	0.0008	0.0008	0.0017	0.0015	0.0003	0	0.0023	0	0	9.42e-05	0.0170	0.0013	0	0.0004	0.025	0.47320	D	0.129	0.34837	T	0.962	0.55554	D	0.173	0.35463	B	0.000161	0.49130	D	0.087662	1	0.81001	D	1.39	0.34934	L	-0.85	0.74371	T	-1.58	0.38151	N	0.713	0.71587	-0.8752	0.50135	T	0.140	0.45997	T	10	0.08162171	0.13382	T	0.033219	0.54826	D	0.307	0.62838	.	.	0.76800127124	0.76587	0.27073512233209274	0.26986	0.339590473193	0.35905	0.54276496172	0.44836	T	0.284778	0.65756	T	-0.183567	0.23206	T	-0.041384	0.67607	D	0.0342431260818645	0.02679	T	0.854215	0.54045	D	0.14379038	0.33033	0.15472127	0.36300	0.15775715	0.35529	0.17242497	0.39495	-4.402	0.29585	T	0.5266939957757211	0.59815	0.093	0.14108	B	.	.	3.094430	0.41680	21.4	0.99783584082301591	0.87043	0.93839	0.59340	D	AEFDGBHI	0.452454	0.50600	N	-0.0809282533132905	0.38228	2.235856	-0.0719631655036133	0.36554	2.128813	0.999999997193261	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.530356	0.10902	0	.	.	5.98	5.09	0.68647	3.213000	0.50855	5.828000	0.50139	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.153000	0.20410	0.0:0.1268:0.8732:0.0	17.082	0.86476	384	0.83545	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	6741.98	45	chr6	7581408	.	G	A	6741.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=1488;ExcessHet=0.0000;FS=0.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=1.43;SOR=0.756	GT:AD:DP:GQ:PL	0/1:292,272:564:99:6756,0,6945	20	0	1	0
chr6	7884463	7884463	G	A	exonic	TXNDC5	.	nonsynonymous SNV	TXNDC5:NM_001145549:exon9:c.C748T:p.P250S	.	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.625	H	2.98	T	-0.738	T	0.123	T	0.68	5.371	34	5.75	2.708	9.599	19.956	0.487	0.057530713738	0.0011	0.00119808	0.0014	0.0003	0.0014	0.0001	0	0.0015	0.0044	0.0033	0.001313	203	154602	rs145581599	0.0012	0.0012	0.0011	0.0013	0.0035	0.0012	0.0012	0.0032	0.0030	0.0004	0.0014	0.0003	0	0.0001	0.0023	0.0012	0.0014	0.0035	0.0010	0.0010	0.0010	0.0009	0.0021	0.0008	0.0008	0.0013	0.0012	0.0002	0	0.0010	0	0	0.0003	0	0.0015	0.0028	0.0021	0.002	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.54	0.93167	H	2.98	0.09356	T	-7.93	0.96269	D	0.77	0.77978	-0.7381	0.58550	T	0.123	0.42568	T	10	0.06943762	0.09962	T	0.057531	0.66999	D	0.487	0.77528	.	.	0.555555669293	0.55214	0.8847110339835254	0.88439	0.579568942759	0.53817	0.64976388216	0.59952	T	0.207223	0.56680	T	-0.24587	0.14610	T	-0.129002	0.61057	T	0.131375010629649	0.15508	T	0.974802	0.91047	D	0.93448746	0.94689	0.9444512	0.98055	0.93448746	0.94689	0.9444512	0.98056	-10.472	0.76686	D	.	.	0.188	0.40554	B	.;.	.;.	4.440321	0.68930	25.3	0.99924892887805561	0.98980	0.99169	0.92246	D	AEFDBHCI	0.951245	0.96562	D	1.06866649090253	0.97510	16.25106	0.997961138214935	0.98588	18.71651	1.0	0.98316	0.645754	0.44609	0	0.702456	0.74545	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	5.75	5.75	0.90390	9.734000	0.98032	11.736000	0.95093	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	19.956	0.97222	766	0.49742	Thioredoxin domain|Thioredoxin, conserved site|Thioredoxin domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2030.98	33	chr6	7884463	.	G	A	2030.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.794e+00;DP=846;ExcessHet=0.0000;FS=1.966;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=0.792;SOR=0.861	GT:AD:DP:GQ:PL	0/1:73,86:159:99:2045,0,1914	20	0	1	0
chr6	16327687	16327687	-	TGCTGCTGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCAGCAGCA:p.Q208_H209insQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/4:32,0,0,0,28,0:60:99:977,1074,2292,1074,2292,2292,1074,2292,2292,2292,0,1218,1218,1218,1134,1074,2292,2292,2292,1218,2292	9	0	3	0
chr6	16327687	16327687	-	TGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCA:p.Q208_H209insQ	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/4:32,0,0,0,28,0:60:99:977,1074,2292,1074,2292,2292,1074,2292,2292,2292,0,1218,1218,1218,1134,1074,2292,2292,2292,1218,2292	9	0	3	0
chr6	16327687	16327687	-	TGCTGCTGCTGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCAGCAGCAGCA:p.Q208_H209insQQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/4:32,0,0,0,28,0:60:99:977,1074,2292,1074,2292,2292,1074,2292,2292,2292,0,1218,1218,1218,1134,1074,2292,2292,2292,1218,2292	9	0	3	0
chr6	17130751	17130751	G	C	exonic	STMND1	.	nonsynonymous SNV	STMND1:NM_001190766:exon5:c.G701C:p.G234A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00585579662652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.788	0.03218	T	0.706	0.05602	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.175	0.29870	L	.	.	.	0.28	0.04233	N	0.052	0.02366	.	.	.	.	.	.	.	0.046383828	0.03823	T	0.005856	0.15221	T	.	.	.	.	0.112648838833	0.10856	0.010053791588558507	0.00967	.	.	0.240040302277	0.02794	T	0.00588	0.05325	T	-0.341489	0.05285	T	-0.728302	0.04405	T	.	.	.	0.540046	0.18281	T	0.04184452	0.06238	0.05348813	0.09018	0.04184452	0.06238	0.05348813	0.09018	-3.28	0.13480	T	.	.	0.092	0.13409	B	.	.	-0.667835	0.01396	0.081	0.14916702185829409	0.00346	0.04843	0.10575	N	AEFBHCI	0.068707	0.13566	N	.	.	.	.	.	.	0.00278354915616885	0.09705	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.16	-4.69	0.03061	-0.995000	0.03823	-0.106000	0.11884	-0.682000	0.04210	0.002000	0.15269	0.040000	0.21562	0.041000	0.14368	0.4993:0.216:0.2847:0.0	7.478	0.26559	898	0.25240	.	.	.	.	.	.	Uncertain significance	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	1646.98	37	chr6	17130751	.	G	C	1646.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=847;ExcessHet=0.0000;FS=1.391;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=0.427;SOR=0.558	GT:AD:DP:GQ:PL	0/1:67,62:129:99:1661,0,1695	20	0	1	0
chr6	24145554	24145554	C	G	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196G:p.L66V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.946	D	0.000	D	1.000	D	2.015	M	2.04	T	-1.026	T	0.105	T	0.742	3.788	19.23	5.46	2.571	5.817	19.326	0.159	0.0244498327376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.62352	D	0.997	0.70673	D	0.946	0.68276	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.995	0.54099	M	2.04	0.38397	T	-1.04	0.27259	N	0.598	0.61680	-1.0261	0.21723	T	0.105	0.38341	T	10	0.38316447	0.54345	T	0.02445	0.47438	T	0.159	0.41286	0.222	0.14518	0.592685350901	0.58946	0.5903367191441313	0.58963	1.01389843922	0.74865	0.620901226997	0.55857	T	0.070066	0.33867	T	0.0642638	0.60145	T	-0.145466	0.59643	T	0.947459578514099	0.62685	D	0.808619	0.45852	T	0.4937834	0.66727	0.37499517	0.62653	0.4937834	0.66728	0.37499517	0.62652	-4.546	0.31486	T	.	.	0.126	0.27222	B	.;.;.	.;.;.	4.497323	0.70306	25.5	0.99826269118642064	0.90852	0.95160	0.63658	D	AEFBCI	0.809917	0.73329	D	0.709881601940465	0.80282	7.259509	0.688265315290989	0.81488	7.538295	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4474	3322.42	61	chr6	24145554	.	C	G,T	3322.42	.	AC=6,11;AF=0.158,0.289;AN=38;BaseQRankSum=-1.663e+00;DP=1570;ExcessHet=25.1139;FS=225.828;InbreedingCoeff=-0.7530;MLEAC=6,12;MLEAF=0.158,0.316;MQ=60.00;MQRankSum=0.00;QD=2.85;ReadPosRankSum=0.280;SOR=12.310	GT:AD:DP:GQ:PL	0/2:36,8,29:73:99:462,251,1377,0,540,431	2	0	6	2
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.989	D	0.000	D	1.000	D	2.36	M	2.04	T	-0.937	T	0.125	T	0.77	4.052	20.8	5.46	2.571	5.817	19.326	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4474	3322.42	61	chr6	24145554	.	C	G,T	3322.42	.	AC=6,11;AF=0.158,0.289;AN=38;BaseQRankSum=-1.663e+00;DP=1570;ExcessHet=25.1139;FS=225.828;InbreedingCoeff=-0.7530;MLEAC=6,12;MLEAF=0.158,0.316;MQ=60.00;MQRankSum=0.00;QD=2.85;ReadPosRankSum=0.280;SOR=12.310	GT:AD:DP:GQ:PL	0/2:36,8,29:73:99:462,251,1377,0,540,431	2	0	6	2
chr6	24798844	24798844	C	T	exonic	ARMH2	.	nonsynonymous SNV	ARMH2:NM_001282492:exon1:c.G14A:p.R5Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00401149238556	.	0.000199681	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs572082431	1.737e-05	1.642e-05	2e-05	1.467e-05	0.0004	1.175e-05	9.87e-06	0.0002	0.0002	0.0004	5.633e-05	0	0	0	0	8.348e-06	1.73e-05	0	0.0001	0.0001	8.998e-05	0.0001	0.0004	7.576e-05	6.281e-05	0.0003	0.0002	0.0004	0	0	0	0	0	0	0	0	0	0.431	0.09514	T	0.421	0.14075	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.82	0.22508	N	0.045	0.01740	.	.	.	.	.	.	.	0.023615241	0.00623	T	0.004011	0.09525	T	.	.	.	.	0.0551355673512	0.04727	0.025849953066937447	0.02535	.	.	.	.	.	6.55E-4	0.00285	T	-0.650983	0.00071	T	-0.830137	0.01259	T	.	.	.	0.50185	0.15733	T	0.020356616	0.00591	0.028417818	0.01077	0.020356616	0.00591	0.028417818	0.01077	-3.99	0.23654	T	.	.	0.098	0.16099	B	.	.	-1.864211	0.00137	0.002	0.84655888707188498	0.15420	0.00279	0.01508	N	AEFDBI	0.024840	0.01602	N	.	.	.	.	.	.	0.999999723834817	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.63	-9.48	0.00498	-6.644000	0.00072	-7.195000	0.01210	-0.925000	0.02178	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.092:0.5886:0.1008:0.2186	6.250	0.20052	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	734.98	35	chr6	24798844	.	C	T	734.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=748;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=-4.150e-01;SOR=0.869	GT:AD:DP:GQ:PL	0/1:24,27:51:99:749,0,607	20	0	1	0
chr6	27310582	27310582	G	A	exonic	POM121L2	.	nonsynonymous SNV	POM121L2:NM_033482:exon1:c.C1589T:p.A530V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.025	B	0.035	B	0.056	N	0.853	N	2.015	M	1.98	T	-1.009	T	0.021	T	0.046	2.299	13.64	2.64	0.628	1.417	7.159	0.037	0.00457380117422	.	.	.	.	.	.	.	.	.	.	.	.	.	rs931459915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.025	0.56192	D	.	.	.	.	.	.	0.055521	0.22635	N	0.224693	0.852663	0.28474	N	1.385	0.34509	L	1.94	0.22678	T	-2.33	0.51646	N	0.033	0.00882	-1.0093	0.27136	T	0.021	0.08917	T	10	0.06081772	0.07530	T	0.004574	0.11283	T	0.037	0.09474	0.228	0.15406	0.0401082797425	0.02173	0.28922171704253374	0.28835	.	.	0.254709690809	0.04280	T	0.016631	0.13711	T	-0.321687	0.06761	T	-0.699857	0.05834	T	0.437501043081284	0.30337	T	0.454055	0.12934	T	0.08149508	0.18729	0.12834299	0.30879	0.08149508	0.18729	0.12834299	0.30878	-3.999	0.23789	T	.	.	0.122	0.25364	B	.	.	1.722228	0.21927	15.41	0.99824631958357912	0.90677	0.35993	0.25431	N	AEFDBI	0.065033	0.12662	N	-0.709333535591486	0.15758	0.7970068	-0.707749686166026	0.16767	0.8885786	0.00176535619173559	0.08861	0.516011	0.20929	0	0.610034	0.51514	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.41	2.64	0.30504	1.255000	0.32512	1.631000	0.27739	-0.186000	0.09761	0.088000	0.22533	0.006000	0.19429	0.249000	0.23237	0.2046:0.0:0.7954:0.0	7.159	0.24831	624	0.65661	.	.	.	.	.	.	Uncertain significance	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	0.1562	569.39	60	chr6	27310582	.	G	A	569.39	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-3.043e+00;DP=1543;ExcessHet=1.1607;FS=221.345;InbreedingCoeff=-0.2306;MLEAC=6;MLEAF=0.188;MQ=60.00;MQRankSum=0.00;QD=1.28;ReadPosRankSum=1.47;SOR=10.307	GT:AD:DP:GQ:PL	0/1:50,23:76:64:64,0,845	11	0	5	5
chr6	28529593	28529593	C	T	exonic	GPX5	.	nonsynonymous SNV	GPX5:NM_001509:exon2:c.C230T:p.A77V	.	.	437	1053	31	1	0	33	0.0154278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.966	D	0.356	B	0.841	N	1.000	N	0.515	N	3.12	T	-0.979	T	0.004	T	0.114	1.483	10.91	-0.199	-0.076	-0.360	3.265	0.104	0.0034201727032	0.0014	0.00159744	0.0028	0	0.0015	0.0003	0	0.0025	0.0067	0.0090	0.0023932	370	154602	rs145161873	0.0018	0.0018	0.0014	0.0021	0.0113	0.0017	0.0017	0.0091	0.0086	9.019e-05	0.0013	0.0291	0.0002	0	0.0113	0.0006	0.0038	0.0093	0.0013	0.0013	0.0013	0.0013	0.0089	0.0012	0.0011	0.0068	0.0061	0.0001	0	0.0009	0.0254	0	0	0.0136	0.0006	0.0014	0.0089	0.653	0.19293	T	0.57	0.39190	T	0.068	0.23728	B	0.007	0.12992	B	0.841296	0.07001	N	1.076350	1	0.08975	N	-0.69	0.01958	N	3.12	0.08106	T	0.39	0.22508	N	0.146	0.25499	-0.9785	0.35345	T	0.004	0.01400	T	10	0.0074159503	0.00169	T	0.00342	0.07694	T	0.104	0.29647	.	.	0.197625483188	0.19356	0.1980378864844265	0.19720	0.14692160482	0.16579	0.291478693485	0.09137	T	0.027063	0.19900	T	-0.685696	0.00044	T	-0.750198	0.03478	T	0.025681993804498	0.01363	T	.	.	.	0.123513326	0.29001	0.1075086	0.25882	0.123513326	0.29001	0.1075086	0.25881	-3.861	0.35814	T	.	.	0.109	0.20702	B	.;.	.;.	1.372705	0.17831	13.39	0.95041436406744417	0.26048	0.01455	0.04870	N	AEFBI	0.035921	0.04701	N	-0.934270913760009	0.10048	0.4783497	-0.976882144630471	0.10305	0.5181954	0.304501700985108	0.19223	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.72	-0.199	0.12571	-0.098000	0.10993	-0.926000	0.06901	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.980000	0.58198	0.1861:0.3887:0.0:0.4252	3.265	0.06457	675	0.60470	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1899.11	40	chr6	28529593	.	C	T	1899.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.96;DP=850;ExcessHet=0.1072;FS=1.960;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=-5.940e-01;SOR=0.896	GT:AD:DP:GQ:PL	0/1:47,41:88:99:855,0,1040	19	0	2	0
chr6	29942795	29942795	C	T	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon2:c.C112T:p.R38W	.	.	1	1321	200	0	0	200	0.070373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.98	D	0.690	U	0.991	N	3.54	H	5.54	T	-0.994	T	0.009	T	0.742	2.152	13.15	1.87	0.363	0.209	5.323	0.141	.	.	.	0.0603	0.0995	0.1022	0.0272	0.0692	0.0516	0.0599	0.0590	0.0488804	7557	154602	rs45569434	6.38e-05	0.0006	3.982e-05	8.774e-05	0.0003	5.181e-05	4.787e-05	0.0001	0.0001	0.0001	0.0003	0.0002	0.0001	0.0001	0	5.282e-05	5.858e-05	1.255e-05	1.763e-05	0.0004	1.698e-05	1.832e-05	3.158e-05	2.93e-06	1.1e-06	.	.	3.158e-05	0	0	0	0	0	0	1.921e-05	0	0	0.0	0.91255	D	0.027	0.55341	D	1.0	0.90584	D	0.98	0.74843	D	0.690295	0.10182	U	0.758419	0.991328	0.24050	N	.	.	.	5.54	0.00885	T	-5.95	0.90140	D	0.086	0.09631	-0.9942	0.31512	T	0.009	0.03011	T	10	0.009814292	0.00220	T	.	.	.	0.141	0.37795	.	.	.	.	0.2815732018754056	0.28070	0.458621484478	0.45471	0.351919740438	0.18205	T	0.028248	0.20504	T	0.0221942	0.54678	T	-0.205896	0.54087	T	0.132723840102629	0.15631	T	0.657134	0.26688	T	0.38850322	0.59925	0.5650758	0.74827	0.38850322	0.59926	0.5650758	0.74828	-10.028	0.74079	D	.	.	0.146	0.39271	B	.;.;.;.;.	.;.;.;.;.	3.559205	0.50069	22.9	0.99688396903793897	0.79775	0.02454	0.06901	N	AEFDGBHCI	0.351151	0.44436	N	0.195067772507188	0.50963	3.281393	-0.0380896100270192	0.38011	2.23339	0.999999980882174	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	3.72	1.87	0.24559	0.353000	0.19868	.	.	0.397000	0.20528	0.010000	0.18352	0.000000	0.08366	0.029000	0.12982	0.0:0.6744:0.2073:0.1183	5.323	0.15197	862	0.33134	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	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	0.119	926.44	142	chr6	29942795	.	C	T	926.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-8.950e-01;DP=2773;ExcessHet=1.1607;FS=4.085;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=57.24;MQRankSum=-6.125e+00;QD=1.24;ReadPosRankSum=2.87;SOR=0.953	GT:AD:DP:GQ:PL	0/1:129,23:152:99:148,0,4419	16	0	5	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|1:85,32,0:117:99:0|1:29942939_C_G:1047,0,3445,1308,3546,4879:29942939	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|1:84,21,0:105:99:0|1:29942982_T_A:588,0,3455,846,3520,4384:29942982	3	4	8	2
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|2:452,0,168:620:99:0|1:31026245_ACCACAGGCT_A:5684,7045,26024,0,18979,18474:31026245	13	0	1	0
chr6	31028713	31028713	C	0	exonic	MUC22	.	.	.	.	.	482	658	261	50	71	432	0.215265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	200572.81	770	chr6	31028713	.	C	T,*	200572.81	.	AC=13,2;AF=0.310,0.048;AN=42;BaseQRankSum=1.28;DP=14734;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=13,2;MLEAF=0.310,0.048;MQ=59.98;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-4.400e-01;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:512,516,0:1028:99:0|1:31028713_C_T:19319,0,18931,20860,20483,41343:31028713	9	2	8	0
chr6	31029724	31029753	AGGCTCTGAGACCACCACAGCCTCCACTGC	-	exonic	MUC22	.	nonframeshift deletion	MUC22:NM_001198815:exon3:c.4293_4322del:p.A1451_T1460del	.	.	421	1050	18	21	12	72	0.0277778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0008	0.0009	0.0010	0.0037	0.0009	0.0009	0.0032	0.0030	0.0018	0.0037	0.0038	0.0010	0.0020	0.0032	0.0007	0.0016	0.0004	0.0045	0.0038	0.0046	0.0044	0.0074	0.0041	0.0040	0.0059	0.0053	0.0046	0	0.0074	0.0098	0.0021	0.0013	0.0366	0.0042	0.0048	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	37356.82	708	chr6	31029723	.	AAGGCTCTGAGACCACCACAGCCTCCACTGC	A,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	37356.82	.	AC=1,1,3;AF=0.033,0.033,0.100;AN=30;BaseQRankSum=1.54;DP=15267;ExcessHet=0.0409;FS=0.557;InbreedingCoeff=0.0715;MLEAC=1,1,4;MLEAF=0.033,0.033,0.133;MQ=59.44;MQRankSum=-5.220e-01;QD=27.86;ReadPosRankSum=-1.086e+00;SOR=0.767	GT:AD:DP:GQ:PL	0/2:179,3,187,0:369:99:3988,6091,33260,0,8051,6466,6328,25862,8357,24656	11	0	1	6
chr6	31029753	31029753	-	AGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4322_4323insAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC:p.T1460_S1461insAGSETTTASTAGSETTTASTAGSETTTAST	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	37356.82	708	chr6	31029723	.	AAGGCTCTGAGACCACCACAGCCTCCACTGC	A,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	37356.82	.	AC=1,1,3;AF=0.033,0.033,0.100;AN=30;BaseQRankSum=1.54;DP=15267;ExcessHet=0.0409;FS=0.557;InbreedingCoeff=0.0715;MLEAC=1,1,4;MLEAF=0.033,0.033,0.133;MQ=59.44;MQRankSum=-5.220e-01;QD=27.86;ReadPosRankSum=-1.086e+00;SOR=0.767	GT:AD:DP:GQ:PL	0/2:179,3,187,0:369:99:3988,6091,33260,0,8051,6466,6328,25862,8357,24656	11	0	1	6
chr6	31029753	31029753	-	AGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4322_4323insAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC:p.T1460_S1461insAGSETTTASTAGSETTTAST	.	.	0	206	1	0	19	20	0.00242131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	37356.82	708	chr6	31029723	.	AAGGCTCTGAGACCACCACAGCCTCCACTGC	A,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	37356.82	.	AC=1,1,3;AF=0.033,0.033,0.100;AN=30;BaseQRankSum=1.54;DP=15267;ExcessHet=0.0409;FS=0.557;InbreedingCoeff=0.0715;MLEAC=1,1,4;MLEAF=0.033,0.033,0.133;MQ=59.44;MQRankSum=-5.220e-01;QD=27.86;ReadPosRankSum=-1.086e+00;SOR=0.767	GT:AD:DP:GQ:PL	0/2:179,3,187,0:369:99:3988,6091,33260,0,8051,6466,6328,25862,8357,24656	11	0	1	6
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	1/1:5,287,0:292:99:.:.:7564,744,0,7579,858,7694	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	0/1:86,80:166:99:.:.:3058,0,3342	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	1/1:0,158,0:158:99:.:.:5492,475,0,5492,475,5492	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|1:52,37:89:99:0|1:31270188_G_C:1187,0,1970:31270188	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	0/1:106,98,0,0:204:99:.:.:3432,0,4156,3751,4451,8202,3751,4451,8202,8202	0	0	16	0
chr6	31271295	31271295	G	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.C397T:p.L133F	.	.	0	1434	88	0	0	88	0.02977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.998	D	.	.	1.000	N	1.38	L	9.43	T	-0.970	T	0.039	T	0.525	1.795	11.96	-2.84	-0.764	-1.782	3.235	0.011	0.00217142621672	.	.	0.0017	0	0.0010	0	0.0003	0.0020	0.0047	0.0033	3.84e-05	1	26028	rs201232509	4.189e-05	0.0006	3.548e-05	4.826e-05	0.0008	3.193e-05	2.85e-05	0.0005	0.0004	0	0.0008	5.85e-05	0	5.905e-05	0	1.691e-05	0	7.077e-05	1.456e-05	0.0002	0	3.043e-05	0.0002	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0	0.129	0.26852	T	0.261	0.22962	T	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	0.999994	0.08975	N	.	.	.	9.43	0.00008	T	-2.12	0.49187	N	0.103	0.09490	-0.9700	0.37200	T	0.039	0.16892	T	9	0.053365707	0.05516	T	0.002171	0.04071	T	0.149	0.39377	.	.	0.15556083564	0.15200	0.05197114042866421	0.05139	1.46494527933	0.86431	0.243654131889	0.03128	T	0.03788	0.24637	T	-0.190747	0.22149	T	-0.511772	0.21132	T	0.0786905586719513	0.09819	T	0.244676	0.09330	T	.	.	.	.	.	.	.	.	-5.97	0.46028	T	.	.	0.142	0.31177	B	.;.;.	.;.;.	1.437331	0.18565	13.80	0.97521242843416844	0.34405	0.01752	0.05517	N	ALL	0.145460	0.26868	N	-0.848663386786969	0.12082	0.5868329	-1.0804277795709	0.08086	0.3960589	0.999999936443293	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.638787	0.57140	0	.	.	2.81	-2.84	0.05408	-3.523000	0.00493	.	.	-0.940000	0.02096	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4266:0.0:0.2662:0.3072	3.235	0.06360	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	1918.68	124	chr6	31271295	.	G	A	1918.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.18;DP=2573;ExcessHet=0.3300;FS=11.102;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=53.22;MQRankSum=-5.695e+00;QD=4.14;ReadPosRankSum=0.218;SOR=1.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,24:156:99:0|1:31271283_A_G:610,0,5470:31271283	18	0	3	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|1:0,78,0:78:99:1|1:31356168_A_C:3424,235,0,3424,235,3424:31356168	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	0/1:93,72,0:165:99:.:.:2172,0,2781,2451,2998,5449	1	0	12	0
chr6	31356389	31356389	G	A	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon3:c.C397T:p.L133F,	.	.	10	1431	80	1	0	82	0.0278533	.	.	2822865	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.29	T	0.005	B	0.013	B	.	.	1.000	N	1.6	L	9.43	T	-0.969	T	0.001	T	0.569	0.516	6.799	-2.16	-0.411	-0.546	5.008	0.140	.	0.0041	0.00638978	0.0074	0.0006	0.0080	0.0003	0.0012	0.0095	0.0134	0.0078	0.0062548	967	154602	rs41558819	0.0010	0.0030	0.0010	0.0011	0.0076	0.0010	0.0009	0.0048	0.0039	0.0030	0.0019	0.0214	0	0.0002	0.0076	0.0005	0.0021	0.0018	0.0001	0.0027	3.967e-05	0.0002	0.0005	4.008e-05	2.601e-05	9.181e-05	3.756e-05	0	0	0.0005	0.0022	0	0	0	7.945e-05	0	0	0.122	0.54683	T	0.293	0.29945	T	0.005	0.12996	B	0.013	0.16460	B	.	.	.	.	0.999999	0.08975	N	.	.	.	9.43	0.00008	T	-2.31	0.51319	N	0.173	0.18512	-0.9694	0.37324	T	0.001	0.00438	T	9	0.008583397	0.00194	T	.	.	.	0.140	0.37593	.	.	0.0138822411134	0.00435	0.027354080535157824	0.02685	0.241525953006	0.26679	.	.	.	0.024715	0.18622	T	-0.504179	0.00542	T	-0.484671	0.23951	T	0.0032787161966323	0.00035	T	0.359464	0.10645	T	0.25326553	0.48348	0.1667133	0.38500	0.25326553	0.48348	0.1667133	0.38499	-6.628	0.51267	T	.	.	0.112	0.31253	B	.;.;.	.;.;.	0.971080	0.13483	9.992	0.93170873193506787	0.22827	0.01842	0.05707	N	ALL	0.081868	0.16572	N	-1.25342463206928	0.04255	0.1916679	-1.32756566347898	0.04078	0.1915775	0.999999866091929	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.554799	0.18163	0	.	.	3.18	-2.16	0.06684	-0.457000	0.06821	.	.	-1.964000	0.00474	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3627:0.0:0.4948:0.1425	5.008	0.13642	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	832.68	63	chr6	31356389	.	G	A	832.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.83;DP=1405;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=53.39;MQRankSum=-5.224e+00;QD=4.63;ReadPosRankSum=-7.810e-01;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,13:91:99:.:.:247,0,3140	18	0	3	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	1|2:0,7,50:57:99:0|1:31356399_C_G:2390,2099,2100,291,0,140:31356399	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|2:37,0,24:61:99:0|1:31356711_C_CGGAG:876,987,2541,0,1554,1481:31356711	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|1:40,24,0:64:99:0|1:31356711_C_CGGAG:867,0,1603,987,1675,2663:31356711	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|2:40,0,24:64:99:0|1:31356711_C_CGGAG:867,987,2663,0,1675,1603:31356711	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|1:0,88,0:88:99:1|1:31356739_C_A:3957,265,0,3957,265,3957:31356739	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|2:0,0,186:186:99:1|1:31356809_C_T:8298,8298,8298,559,559,0:31356809	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|1:22,30,0:52:99:0|1:31412383_TG_T:938,0,813,1004,904,1908:31412383	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	1|2:0,22,30,0:52:99:1|0:31412383_TG_T:2290,1107,1194,940,0,813,2181,1211,937,2227:31412383	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	0/1:108,45:153:99:.:.:1028,0,3809	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	0/1:108,38,6:152:99:.:.:972,0,3811,723,3894,4622	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	0/1:108,38,6:152:99:.:.:972,0,3811,723,3894,4622	0	0	18	2
chr6	31954626	31954631	CGATCC	-	exonic	NELFE	.	nonframeshift deletion	NELFE:NM_002904:exon7:c.666_671del:p.D227_R228del,	.	.	422	1016	78	6	0	90	0.0424128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0084	0.00579073	0.0094	0.0007	0.0115	0.0004	0.0022	0.0123	0.0137	0.0087	0.00146	38	26028	rs202172278	0.0067	0.0067	0.0062	0.0071	0.0436	0.0066	0.0065	0.0392	0.0374	0.0010	0.0126	0.0786	0.0004	0.0018	0.0436	0.0047	0.0122	0.0087	0.0072	0.0071	0.0070	0.0074	0.0151	0.0068	0.0067	0.0134	0.0128	0.0010	0	0.0151	0.0773	0.0006	0.0011	0.0451	0.0069	0.0159	0.0043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	7972.64	42	chr6	31954625	.	TCGATCC	T	7972.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.08;DP=1264;ExcessHet=0.3300;FS=1.122;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=18.12;ReadPosRankSum=-7.130e-01;SOR=0.604	GT:AD:DP:GQ:PL	0/1:79,69:148:99:2598,0,3046	18	0	3	0
chr6	31965884	31965884	C	-	exonic	SKIV2L	.	frameshift deletion	SKIV2L:NM_006929:exon18:c.2073delC:p.L692Cfs*41,	Trichohepatoenteric syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1335.94	38	chr6	31965883	.	AC	A	1335.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.305;DP=838;ExcessHet=0.0000;FS=0.751;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=-4.370e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/1:55,44:99:99:1350,0,1758	20	0	1	0
chr6	32223891	32223893	AGC	-	exonic	NOTCH4	.	nonframeshift deletion	NOTCH4:NM_004557:exon1:c.36_38del:p.L16del,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	0/1:13,8,0,0,0:21:99:290,0,497,329,521,850,329,521,850,850,329,521,850,850,850	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	0/1:13,8,0,0,0:21:99:290,0,497,329,521,850,329,521,850,850,329,521,850,850,850	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	0/1:13,8,0,0,0:21:99:290,0,497,329,521,850,329,521,850,850,329,521,850,850,850	0	1	4	0
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	2340.92	49	chr6	32521970	.	G	GCC,*	2340.92	.	AC=2,14;AF=0.048,0.333;AN=42;BaseQRankSum=4.87;DP=2985;ExcessHet=0.3152;FS=19.972;InbreedingCoeff=0.1923;MLEAC=2,14;MLEAF=0.048,0.333;MQ=57.72;MQRankSum=-1.101e+01;QD=1.39;ReadPosRankSum=-6.282e+00;SOR=1.161	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:397,46,0:443:99:0|1:32521930_A_C:736,0,16531,1932,16670,18601:32521930	9	0	2	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|1:386,51,0:437:99:0|1:32521930_A_C:887,0,16055,2049,16208,18257:32521930	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|3:383,0,0,51:434:99:0|1:32521930_A_C:893,2046,18025,2046,18025,18025,0,15979,15979,15825:32521930	4	5	4	1
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	37739.64	115	chr6	32530184	.	T	G,*,A	37739.64	.	AC=12,22,3;AF=0.286,0.524,0.071;AN=42;BaseQRankSum=-6.320e-01;DP=2340;ExcessHet=1.1607;FS=2.132;InbreedingCoeff=-0.1351;MLEAC=12,23,2;MLEAF=0.286,0.548,0.048;MQ=55.50;MQRankSum=0.00;QD=16.93;ReadPosRankSum=1.02;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:112,0,0,105:217:99:0|1:32530184_T_A:4011,4349,9051,4349,9051,9051,0,4703,4703,4387:32530184	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	0|3:112,0,0,105:217:99:0|1:32530184_T_A:4011,4349,9051,4349,9051,9051,0,4703,4703,4387:32530184	0	1	0	0
chr6	32584184	32584184	G	0	exonic	HLA-DRB1	.	.	.	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	7031.51	227	chr6	32584184	.	G	GT,*,GTC	7031.51	.	AC=6,5,1;AF=0.150,0.125,0.025;AN=40;BaseQRankSum=3.49;DP=4835;ExcessHet=3.2961;FS=2.645;InbreedingCoeff=-0.1959;MLEAC=6,5,1;MLEAF=0.150,0.125,0.025;MQ=53.60;MQRankSum=-4.261e+00;QD=2.53;ReadPosRankSum=-3.096e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:353,43,0,0:396:99:0|1:32584184_G_GT:680,0,14693,1743,14822,16565,1743,14822,16565,16565:32584184	9	0	5	1
chr6	32584184	32584184	-	TC	exonic	HLA-DRB1	.	frameshift insertion	HLA-DRB1:NM_002124:exon2:c.294_295insGA:p.Q99Dfs*31,	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.94e-05	0	0	0	0	0.0001	0	0	0.0016905	44	26028	rs28986201	2.344e-06	2.239e-05	4.721e-06	0	3.106e-06	3.9e-07	1.5e-07	5.2e-07	1.9e-07	0	0	0	0	0	0	3.106e-06	0	0	0	3.383e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	7031.51	227	chr6	32584184	.	G	GT,*,GTC	7031.51	.	AC=6,5,1;AF=0.150,0.125,0.025;AN=40;BaseQRankSum=3.49;DP=4835;ExcessHet=3.2961;FS=2.645;InbreedingCoeff=-0.1959;MLEAC=6,5,1;MLEAF=0.150,0.125,0.025;MQ=53.60;MQRankSum=-4.261e+00;QD=2.53;ReadPosRankSum=-3.096e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:353,43,0,0:396:99:0|1:32584184_G_GT:680,0,14693,1743,14822,16565,1743,14822,16565,16565:32584184	9	0	5	1
chr6	32584185	32584185	C	0	exonic	HLA-DRB1	.	.	.	.	.	82	1001	166	64	209	503	0.128049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6470.95	227	chr6	32584185	.	C	CT,*	6470.95	.	AC=6,5;AF=0.150,0.125;AN=40;BaseQRankSum=2.10;DP=4843;ExcessHet=2.2868;FS=2.608;InbreedingCoeff=-0.1376;MLEAC=6,5;MLEAF=0.150,0.125;MQ=53.44;MQRankSum=-6.590e+00;QD=2.58;ReadPosRankSum=-3.178e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:356,43,0:399:99:0|1:32584184_G_GT:671,0,14774,1743,14904,16646:32584184	10	0	5	1
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	2/2:0,0,82:82:99:.:.:3670,3670,3670,247,247,0	1	1	0	0
chr6	37646268	37646268	C	G	exonic	MDGA1	.	nonsynonymous SNV	MDGA1:NM_153487:exon11:c.G2154C:p.E718D,	.	.	422	1073	26	1	0	28	0.0128795	.	.	710494	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.13	T	0.982	D	0.581	P	0.000	D	0.980	D	1.795	L	0.62	T	-0.891	T	0.147	T	0.514	4.297	22.5	4.0	1.449	2.530	8.565	0.122	.	0.0088	0.00898562	0.0045	0.0323	0.0020	0.0007	0	0.0004	0.0103	0.0090	0.0029172	451	154602	rs192113659	0.0012	0.0012	0.0011	0.0012	0.0245	0.0011	0.0011	0.0231	0.0226	0.0245	0.0027	0.0002	0.0003	0	0.0023	0.0001	0.0028	0.0053	0.0080	0.0080	0.0078	0.0082	0.0265	0.0076	0.0075	0.0252	0.0247	0.0265	0	0.0042	0	0.0002	0	0.0068	0.0003	0.0057	0.0029	0.015	0.53172	D	0.047	0.50809	D	0.982	0.60036	D	0.581	0.50218	P	0.000153	0.49130	D	0.000000	0.980081	0.39629	D	2.16	0.60381	M	0.62	0.53302	T	-1.19	0.30346	N	0.885	0.88798	-0.8912	0.48828	T	0.147	0.47201	T	10	0.0096515715	0.00217	T	.	.	.	0.122	0.33800	0.36	0.36385	0.550531271145	0.54709	0.6755507098651532	0.67493	0.88397339587	0.69886	0.623381257057	0.56206	T	0.141548	0.47667	T	-0.378657	0.03177	T	-0.297767	0.44960	T	0.0285768425502946	0.01772	T	0.942806	0.78426	D	0.1558519	0.35202	0.15406343	0.36174	0.1558519	0.35201	0.15406343	0.36173	-8.121	0.62566	D	.	.	0.418	0.66376	A	.;.;.	.;.;.	5.483335	0.91405	32	0.99821565569279003	0.90414	0.97537	0.75396	D	AEFDGBI	0.755112	0.69478	D	0.219240806939883	0.52133	3.389395	0.275764911471582	0.54129	3.57876	0.999986440113294	0.51787	0.516011	0.20929	0	0.610034	0.51514	0	0.577349	0.28860	0	0.604944	0.38103	0	.	.	5.78	4.0	0.45673	2.616000	0.46041	2.214000	0.31393	0.599000	0.40250	1.000000	0.71638	0.919000	0.28284	0.998000	0.85391	0.0:0.767:0.0:0.233	8.565	0.32695	890	0.26919	Fibronectin type III|Fibronectin type III;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1129.98	34	chr6	37646268	.	C	G	1129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.264e+00;DP=821;ExcessHet=0.0000;FS=1.581;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.30;ReadPosRankSum=0.183;SOR=0.785	GT:AD:DP:GQ:PL	0/1:51,49:100:99:1144,0,1305	20	0	1	0
chr6	38845636	38845636	G	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon35:c.G4257T:p.E1419D	.	YES	437	1043	40	2	0	44	0.0206573	.	.	239918	Spermatogenic_failure_46|Primary_ciliary_dyskinesia	MONDO:MONDO:0033673,MedGen:C5436799,OMIM:619095|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.6	T	0.302	B	0.229	B	0.076	N	1.000	N	0.53	N	0.15	T	-0.962	T	0.068	T	0.128	2.169	13.21	-2.42	-0.212	-1.650	1.224	0.062	.	0.0053	0.00638978	0.0075	0.0008	0.0035	0.0002	0.0009	0.0072	0.0099	0.0221	0.0071474	1105	154602	rs61757219	0.0068	0.0068	0.0062	0.0074	0.0226	0.0067	0.0066	0.0217	0.0214	0.0010	0.0036	0.0038	0.0002	0.0012	0.0187	0.0064	0.0067	0.0226	0.0050	0.0050	0.0050	0.0049	0.0191	0.0047	0.0046	0.0159	0.0148	0.0009	0	0.0056	0.0017	0.0002	0.0011	0.0272	0.0074	0.0076	0.0191	0.438	0.09319	T	.	.	.	0.302	0.32608	B	0.229	0.38155	B	0.075996	0.21190	N	0.509796	0.999999	0.08975	N	1	0.25136	L	0.15	0.60734	T	-0.51	0.17624	N	0.18	0.20129	-0.9620	0.38800	T	0.068	0.27980	T	10	0.004161775	0.00082	T	.	.	.	0.062	0.17934	0.443	0.49975	0.540518506614	0.53704	0.3513559497602917	0.35049	0.110355847476	0.12451	0.426474988461	0.28726	T	0.009835	0.40305	T	-0.560414	0.00252	T	-0.560853	0.16297	T	0.0066639197636007	0.00075	T	0.59804	0.22252	T	0.04480855	0.07226	0.052961834	0.08829	0.035336696	0.04141	0.041304443	0.04664	-1.842	0.02637	T	.	.	0.071	0.03736	B	.;.;.	.;.;.	1.375734	0.17868	13.41	0.99028428054756534	0.50742	0.05381	0.11245	N	AEFBI	0.083879	0.16995	N	-0.739642811632707	0.14916	0.7471771	-0.706619607950186	0.16795	0.8901936	2.54996149175176E-4	0.06190	0.623552	0.39893	0	0.588015	0.36545	0	0.547309	0.15389	0	0.579976	0.35079	0	.	.	5.53	-2.42	0.06164	-1.271000	0.02936	0.532000	0.19257	0.676000	0.76740	0.001000	0.13787	0.995000	0.32472	0.998000	0.85391	0.2452:0.0999:0.2495:0.4053	1.224	0.01813	447	0.79583	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.04762	2961.11	34	chr6	38845636	.	G	T	2961.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.419e+00;DP=960;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=0.995;SOR=0.673	GT:AD:DP:GQ:PL	0/1:78,64:142:99:1421,0,2019	19	0	2	0
chr6	42964826	42964826	C	A	exonic	PEX6	.	nonsynonymous SNV	PEX6:NM_000287:exon16:c.G2770T:p.A924S	Heimler syndrome 2, Autosomal recessive;Peroxisome biogenesis disorder 4A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 4B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	237362	Peroxisome_biogenesis_disorder_4A_(Zellweger)|not_specified|Zellweger_spectrum_disorders|not_provided|Peroxisome_biogenesis_disorder	MONDO:MONDO:0013930,MedGen:C3553936,OMIM:614862,Orphanet:912|MedGen:CN169374|MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MedGen:C3661900|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.32	T	0.0	B	0.001	B	0.315	N	1.000	N	0.57	N	-3.53	D	-0.614	T	0.360	T	0.037	0.402	6.182	-2.49	-0.937	-0.463	5.353	0.147	.	0.0064	0.0061901	0.0019	0.0206	0.0012	0	0	3.007e-05	0	0	0.0017852	276	154602	rs34551839	0.0005	0.0005	0.0006	0.0004	0.0178	0.0005	0.0005	0.0166	0.0162	0.0178	0.0012	0	0	0	0.0002	1.349e-05	0.0010	2.319e-05	0.0057	0.0057	0.0059	0.0055	0.0196	0.0054	0.0052	0.0185	0.0180	0.0196	0	0.0031	0	0	0	0	0	0.0028	0	0.528	0.07071	T	0.72	0.05345	T	0.0	0.02946	B	0.001	0.04355	B	0.315008	0.14368	N	0.711201	1	0.18198	N	0.475	0.13142	N	-3.53	0.94764	D	0.58	0.02598	N	0.229	0.25745	-0.6142	0.64229	T	0.360	0.72216	T	10	0.007917464	0.00180	T	.	.	.	0.147	0.38986	.	.	0.730151364954	0.72775	0.238456106741822	0.23759	0.130801400463	0.14758	0.288226246834	0.08665	T	0.030047	0.21388	T	-0.46494	0.00915	T	-0.424374	0.30576	T	0.00186320996829016	0.00019	T	0.824517	0.48627	T	0.022808868	0.00971	0.03109739	0.01652	0.022808868	0.00970	0.03109739	0.01652	-3.42	0.15327	T	0.08363105328867801	0.04534	0.081	0.08320	B	.	.	0.399732	0.07708	4.387	0.84781180015618729	0.15494	0.08405	0.14338	N	AEFDBI	0.116984	0.22937	N	-1.01343246095747	0.08325	0.3899184	-0.998064975115894	0.09828	0.4912836	0.783199862270244	0.23882	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.64	-2.49	0.06034	-0.425000	0.07085	-0.273000	0.10332	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	1.000000	0.97212	0.2378:0.3531:0.0:0.4091	5.353	0.15349	200	0.92234	.	.	.	.	.	.	Likely benign	0	0	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	1681.98	33	chr6	42964826	.	C	A	1681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.292e+00;DP=861;ExcessHet=0.0000;FS=0.612;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=0.950;SOR=0.633	GT:AD:DP:GQ:PL	0/1:79,69:148:99:1696,0,2160	20	0	1	0
chr6	43187720	43187720	G	C	exonic	CUL9	.	nonsynonymous SNV	CUL9:NM_015089:exon7:c.G1589C:p.G530A,	.	.	474	1030	17	1	0	19	0.00913901	.	.	2823052	CUL9-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.009	B	0.005	B	0.051	N	1.000	N	1.1	L	-0.53	T	-1.011	T	0.099	T	0.071	1.093	9.462	0.888	0.233	1.453	0.723	0.124	.	0.0081	0.00419329	0.0072	0.0024	0.0037	0	0.0132	0.0103	0.0112	0.0016	0.007322	1132	154602	rs61739483	0.0091	0.0091	0.0092	0.0090	0.0111	0.0090	0.0089	0.0101	0.0100	0.0018	0.0046	0.0141	0	0.0108	0.0111	0.0103	0.0083	0.0015	0.0069	0.0069	0.0069	0.0069	0.0098	0.0066	0.0064	0.0092	0.0089	0.0020	0.0055	0.0050	0.0130	0.0002	0.0140	0.0068	0.0098	0.0104	0.0008	0.085	0.32929	T	0.029	0.54541	D	0.009	0.15093	B	0.004	0.10090	B	0.050672	0.02015	N	1.987250	1	0.08975	N	1.935	0.51832	L	-0.64	0.72125	T	-0.47	0.15178	N	0.112	0.09914	-1.0106	0.26729	T	0.099	0.36856	T	10	0.004929602	0.00106	T	.	.	.	0.124	0.34239	.	.	0.379559396232	0.37572	0.22434815014933449	0.22349	0.36479059056	0.38090	0.228973686695	0.01893	T	0.08527	0.37465	T	-0.525845	0.00406	T	-0.515792	0.20722	T	0.00875300935803619	0.00108	T	0.464354	0.13557	T	0.03551936	0.04196	0.043465547	0.05414	0.03551936	0.04196	0.043465547	0.05414	-3.919	0.22587	T	.	.	0.101	0.24599	B	.;.	.;.	0.780912	0.11512	8.110	0.92500138968775358	0.21936	0.60493	0.31211	D	AEFDBI	0.068857	0.13603	N	-0.532126256349192	0.21048	1.114139	-0.466610946254928	0.23079	1.256802	0.999441453182413	0.39736	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.61	0.888	0.18340	0.965000	0.28916	1.505000	0.26983	-0.169000	0.11342	0.763000	0.29277	0.888000	0.27792	0.487000	0.28723	0.4113:0.1688:0.2488:0.1712	0.723	0.00884	309	0.87553	.;.	.	.	.	.	rs61739483	Likely benign	0	0	0	0	0	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	1790.98	39	chr6	43187720	.	G	C	1790.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.739;DP=813;ExcessHet=0.0000;FS=0.789;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.39;ReadPosRankSum=-6.460e-01;SOR=0.598	GT:AD:DP:GQ:PL	0/1:38,65:103:99:1805,0,992	20	0	1	0
chr6	43206170	43206170	C	G	exonic	CUL9	.	nonsynonymous SNV	CUL9:NM_015089:exon25:c.C4957G:p.Q1653E,	.	.	3	1493	25	1	0	27	0.00896117	.	.	2823056	CUL9-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.041	B	0.016	B	0.000	N	0.930	D	1.24	L	-0.74	T	-0.711	T	0.204	T	0.27	2.381	13.92	4.31	2.417	4.584	17.385	0.110	.	0.0035	0.00419329	0.0073	0.0024	0.0040	0	0.0134	0.0103	0.0115	0.0016	0.0067916	1050	154602	rs142418416	0.0089	0.0089	0.0090	0.0087	0.0113	0.0087	0.0087	0.0098	0.0097	0.0018	0.0046	0.0139	0	0.0108	0.0113	0.0099	0.0081	0.0015	0.0068	0.0068	0.0068	0.0068	0.0096	0.0065	0.0063	0.0090	0.0087	0.0020	0.0055	0.0052	0.0130	0.0002	0.0138	0.0068	0.0096	0.0099	0.0010	0.044	0.41096	D	0.116	0.36497	T	0.003	0.11197	B	0.009	0.14300	B	0.000402	0.44736	N	0.233673	0.814351	0.36934	D	1.68	0.43186	L	-0.74	0.73205	T	-1.4	0.34596	N	0.308	0.34767	-0.7110	0.59903	T	0.204	0.56114	T	10	0.0067023337	0.00152	T	.	.	.	0.110	0.31079	.	.	0.409069985131	0.40521	0.3891948001785718	0.38834	0.489810199868	0.47734	0.363035976887	0.19827	T	0.232361	0.59890	T	-0.378587	0.03180	T	-0.304914	0.44203	T	0.0123168712985461	0.00200	T	0.845015	0.53247	T	0.2174411	0.44227	0.2518575	0.50804	0.2174411	0.44227	0.2518575	0.50803	-8.452	0.64111	D	.	.	0.107	0.19998	B	.;.	.;.	2.846380	0.37571	20.5	0.97788199928553543	0.35982	0.97264	0.73666	D	AEFBI	0.508009	0.53807	D	-0.00229966961702252	0.41752	2.503011	0.164421785088642	0.47911	3.014347	0.979522052657067	0.30037	0.615465	0.37627	0	0.633656	0.55848	0	0.616094	0.41390	0	0.635551	0.53088	0	.	.	5.23	4.31	0.50718	4.687000	0.61396	6.087000	0.53406	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.8646:0.1354:0.0	17.385	0.87303	364	0.84707	Cullin, N-terminal|Cullin homology domain;Cullin, N-terminal|Cullin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1493.98	33	chr6	43206170	.	C	G	1493.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.109e+00;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.30;ReadPosRankSum=-6.100e-01;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,38:67:99:0|1:43206169_C_A:1508,0,1083:43206169	20	0	1	0
chr6	43263202	43263202	C	T	exonic	TTBK1	.	nonsynonymous SNV	TTBK1:NM_032538:exon13:c.C1838T:p.P613L,	.	.	418	1102	2	0	0	2	0.000906618	.	.	710530	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.02	B	0.018	B	0.098	N	1.000	N	0	N	2.01	T	-0.976	T	0.009	T	0.088	0.098	4.526	0.262	0.215	0.878	1.229	0.041	.	0.0045	0.00259585	0.0068	0.0026	0.0043	0	0.0146	0.0116	0.0087	0.0005	0.0036351	562	154602	rs34993661	0.0076	0.0075	0.0078	0.0074	0.0089	0.0075	0.0074	0.0088	0.0087	0.0012	0.0024	0.0014	0	0.0103	0.0011	0.0089	0.0059	0.0005	0.0054	0.0054	0.0052	0.0056	0.0084	0.0051	0.0050	0.0079	0.0076	0.0012	0.0055	0.0025	0.0009	0	0.0137	0	0.0084	0.0033	0	0.011	0.55530	D	0.726	0.05238	T	0.02	0.18235	B	0.018	0.18489	B	0.097935	0.02519	N	1.770700	0.999996	0.08975	N	0.69	0.16971	N	2.01	0.21291	T	-0.53	0.16393	N	0.057	0.02861	-0.9759	0.35926	T	0.009	0.03183	T	10	0.0050085187	0.00108	T	.	.	.	0.041	0.10877	.	.	0.043077524339	0.03247	0.1379616935541065	0.13720	0.318893629979	0.34104	0.329717755318	0.14891	T	0.005882	0.05325	T	-0.651761	0.00071	T	-0.697309	0.05974	T	0.00141565845518355	0.00014	T	0.650635	0.26417	T	0.040601786	0.05827	0.044346094	0.05725	0.038520645	0.05146	0.051642638	0.08350	-4.022	0.24132	T	0.24594726753063545	0.33310	0.062	0.02428	B	.;.	.;.	0.893671	0.12673	9.196	0.85346632925458632	0.15836	0.06950	0.12976	N	AEFDBI	0.088299	0.17900	N	-0.965640280494798	0.09344	0.441884	-0.95042396478968	0.10913	0.5527385	0.998485726961877	0.37052	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.44	0.262	0.14853	-0.111000	0.10778	1.016000	0.23368	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.162000	0.20715	0.1784:0.4463:0.1737:0.2016	1.229	0.01822	184	0.92813	.;.	.	.	.	.	.	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	1349.98	31	chr6	43263202	.	C	T	1349.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.800e-02;DP=770;ExcessHet=0.0000;FS=1.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.13;ReadPosRankSum=-8.070e-01;SOR=0.472	GT:AD:DP:GQ:PL	0/1:18,43:61:99:1364,0,525	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	0/1:96,38:134:99:100,0,1871	4	0	14	3
chr6	44368461	44368461	C	A	exonic	SPATS1	.	nonsynonymous SNV	SPATS1:NM_001372081:exon6:c.C657A:p.H219Q	.	.	.	.	.	.	.	.	.	.	.	2369774	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.986	D	0.663	P	0.922	N	1.000	N	1.905	M	0.41	T	-1.006	T	0.122	T	0.461	1.742	11.78	3.34	0.673	1.304	7.990	0.275	0.0246904774307	0.0002	0.000399361	0.0001	0.0013	0	0	0	0	0	0	0.0001035	16	154602	rs184407816	4.449e-05	4.446e-05	4.631e-05	4.265e-05	0.0016	3.577e-05	3.259e-05	0.0013	0.0012	0.0016	2.237e-05	0	0	0	0	0	0.0001	1.161e-05	0.0005	0.0005	0.0004	0.0005	0.0016	0.0004	0.0003	0.0013	0.0012	0.0016	0	6.537e-05	0	0	0	0	0	0.0005	0	0.02	0.49613	D	0.061	0.45530	T	0.986	0.61523	D	0.663	0.52893	P	0.922023	0.08480	N	0.954407	0.998727	0.21957	N	2.175	0.60977	M	0.41	0.57100	T	-5.53	0.86073	D	0.632	0.64563	-1.0065	0.28004	T	0.122	0.42251	T	10	0.13249847	0.25218	T	0.02469	0.47677	T	0.275	0.59130	0.156	0.05964	0.398283496042	0.39440	0.30625125368054995	0.30538	0.672420561845	0.59524	0.396240800619	0.24546	T	0.111235	0.42656	T	-0.373812	0.03406	T	-0.339811	0.40365	T	0.201166831564868	0.20480	T	0.616438	0.23595	T	0.22553611	0.45216	0.24150905	0.49550	0.22553611	0.45216	0.24150905	0.49549	-2.79	0.08092	T	.	.	0.604	0.70081	P	.;.	.;.	3.053180	0.40972	21.3	0.98481138850098804	0.41978	0.74150	0.36270	D	AEFBI	0.155862	0.28113	N	0.0142896974689647	0.42505	2.56228	-0.0574464813711889	0.37170	2.172734	0.0863680229057145	0.16007	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.11	3.34	0.37357	1.291000	0.32936	0.912000	0.22635	-0.176000	0.10722	0.998000	0.41325	0.999000	0.35428	0.178000	0.21234	0.0:0.8124:0.0:0.1876	7.990	0.29394	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	1571.98	33	chr6	44368461	.	C	A	1571.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=850;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.79;ReadPosRankSum=-1.240e+00;SOR=0.661	GT:AD:DP:GQ:PL	0/1:50,64:114:99:1586,0,1041	20	0	1	0
chr6	52025360	52025360	C	T	exonic	PKHD1	.	nonsynonymous SNV	PKHD1:NM_138694:exon32:c.G4450A:p.A1484T	Polycystic kidney and hepatic disease, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	493120	not_provided|Autosomal_recessive_polycystic_kidney_disease	MedGen:C3661900|MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.77	T	0.002	B	0.008	B	0.412	N	1.000	N	-1.24	N	-2.1	D	-0.846	T	0.075	T	0.056	0.285	5.544	-3.28	-0.133	-0.615	4.815	0.215	0.0306340220002	0.0002	0.000199681	4.145e-05	0.0004	8.654e-05	0	0	0	0	0	4.53e-05	7	154602	rs144905283	4.174e-05	4.173e-05	5.038e-05	3.302e-05	0.0013	3.311e-05	3.002e-05	0.0010	0.0009	0.0013	0.0001	0	0	0	0	1.799e-06	0.0001	0	0.0003	0.0003	0.0004	0.0003	0.0012	0.0003	0.0002	0.0009	0.0008	0.0012	0	0.0002	0	0	0	0	0	0	0	0.78	0.03289	T	1.0	0.01155	T	0.002	0.09854	B	0.001	0.13708	B	0.411809	0.12987	N	0.750850	1	0.08975	N	-0.945	0.01271	N	-2.1	0.87671	D	-0.47	0.17210	N	0.065	0.04547	-0.8458	0.52256	T	0.075	0.30335	T	10	0.017817289	0.00383	T	0.030634	0.52905	D	0.215	0.50805	.	.	0.581280949539	0.57799	0.19834101449503283	0.19751	0.0586537782296	0.06507	0.236583143473	0.02491	T	0.126816	0.45344	T	-0.516443	0.00461	T	-0.539239	0.18372	T	0.004966131444349	0.00053	T	0.541546	0.18382	T	0.032103617	0.03173	0.040385116	0.04352	0.026514502	0.01718	0.04287977	0.05206	-4.214	0.26954	T	0.08327343681140388	0.04480	0.064	0.01668	B	.;.	.;.	-0.619294	0.01519	0.097	0.75831361915125528	0.11228	0.01189	0.04253	N	AEFGBI	0.042774	0.06680	N	-1.4007629378744	0.02633	0.1165129	-1.27954527033694	0.04707	0.222687	0.0728189343758238	0.15613	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.61	-3.28	0.04721	-0.610000	0.05724	-0.156000	0.11370	-0.838000	0.02813	0.000000	0.06391	0.000000	0.08366	0.554000	0.30269	0.3299:0.3497:0.0:0.3204	4.815	0.12728	775	0.48401	.;.	.	.	.	.	.	Uncertain significance	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	1565.98	34	chr6	52025360	.	C	T	1565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.236e+00;DP=875;ExcessHet=0.0000;FS=0.668;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=-1.820e-01;SOR=0.826	GT:AD:DP:GQ:PL	0/1:62,62:124:99:1580,0,1649	20	0	1	0
chr6	54137573	54137573	C	T	exonic	MLIP	.	nonsynonymous SNV	MLIP:NM_001281746:exon4:c.C1471T:p.L491F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.002	B	0.003	B	.	.	1.000	N	.	.	1.9	T	-0.995	T	0.022	T	0.108	-0.205	3.004	-4.36	-0.525	-0.654	0.749	0.019	.	.	0.00339457	0.0002	0.0054	0	0	0	0	0	0	0.0001876	29	154602	rs114118291	0.0003	0.0002	0.0003	0.0002	0.0091	0.0002	0.0002	0.0082	0.0079	0.0091	0.0003	0	0	0	0.0009	1.668e-05	0.0007	2.524e-05	0.0024	0.0025	0.0025	0.0023	0.0083	0.0022	0.0022	0.0076	0.0073	0.0083	0	0.0012	0	0	0	0	4.41e-05	0.0014	0	0.054	0.44358	T	0.115	0.38160	T	0.002	0.09854	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	1.89	0.46028	T	-0.9	0.25332	N	0.028	0.00666	-0.9945	0.31432	T	0.022	0.09193	T	8	0.005687654	0.00126	T	.	.	.	0.019	0.03383	.	.	0.0138822411134	0.00435	0.059807809239664556	0.05920	.	.	0.208425328135	0.00746	T	0.020553	0.16160	T	-0.627515	0.00099	T	-0.668749	0.07689	T	0.00800890565020274	0.00095	T	0.517648	0.16760	T	.	.	.	.	.	.	.	.	-4.507	0.30980	T	.	.	0.073	0.06250	B	.;.;.	.;.;.	-0.580113	0.01627	0.112	0.95016521553519906	0.25995	0.01702	0.05411	N	AEFBI	0.052885	0.09479	N	-1.20825196311339	0.04878	0.2211315	-1.31943183854528	0.04179	0.1965778	0.00726773019633207	0.11424	0.500041	0.20204	0	0.624306	0.53593	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.64	-4.36	0.03392	-0.626000	0.05624	-1.499000	0.05301	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2125:0.1657:0.329:0.2928	0.749	0.00924	748	0.52143	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2134.98	40	chr6	54137573	.	C	T	2134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.656e+00;DP=957;ExcessHet=0.0000;FS=1.759;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=0.556;SOR=0.836	GT:AD:DP:GQ:PL	0/1:106,88:194:99:2149,0,2857	20	0	1	0
chr6	56615521	56615521	G	A	exonic	DST	.	nonsynonymous SNV	DST:NM_001723:exon24:c.C7946T:p.S2649F,	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	.	11	1508	2	1	0	4	0.0013245	.	.	635040	Hereditary_sensory_and_autonomic_neuropathy_type_6|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.012	B	0.012	B	.	.	0.723	N	.	.	-0.87	T	-0.711	T	0.253	T	0.386	1.274	10.16	5.94	2.822	5.878	20.359	0.278	0.0396840614909	.	.	9.96e-05	0	0	0	0	7.515e-05	0.0011	0.0004	7.76e-05	12	154602	rs773910675	8.21e-05	8.209e-05	6.671e-05	9.764e-05	0.0007	7.002e-05	6.553e-05	0.0002	0.0002	2.988e-05	4.474e-05	0	0	3.746e-05	0.0007	6.295e-05	0.0002	0.0003	4.597e-05	4.594e-05	6.425e-05	2.686e-05	0.0002	2.108e-05	1.526e-05	4.88e-06	1.83e-06	2.407e-05	0	6.539e-05	0	0	0	0	2.94e-05	0.0009	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.012	0.16265	B	0.012	0.16012	B	.	.	.	.	.	.	.	.	.	.	-0.87	0.74583	T	-1.93	0.44852	N	0.482	0.51672	-0.7106	0.59923	T	0.253	0.62281	T	7	0.13850069	0.26341	T	0.039684	0.58951	D	0.278	0.59497	0.433	0.48336	0.469922601075	0.46621	.	.	.	.	.	.	.	.	.	.	-0.163587	0.26211	T	-0.162239	0.58149	T	0.167305678129196	0.18395	T	0.633137	0.24745	T	.	.	.	.	.	.	.	.	-4.165	0.26243	T	.	.	0.506	0.64866	A	.	.	2.928370	0.38899	20.8	0.99665701449933863	0.78266	0.75597	0.37022	D	AEFDGBCI	0.652271	0.62573	D	-0.0423596615365446	0.39943	2.363898	0.0716506407324226	0.43131	2.621185	0.998052716799278	0.36367	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.94	5.94	0.96165	6.019000	0.70471	8.655000	0.77949	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.539000	0.29915	0.0:0.0:1.0:0.0	20.359	0.98850	291	0.88420	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	848.98	34	chr6	56615521	.	G	A	848.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=777;ExcessHet=0.0000;FS=1.086;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=0.435;SOR=0.960	GT:AD:DP:GQ:PL	0/1:35,30:65:99:863,0,1011	20	0	1	0
chr6	63580034	63580034	-	T	exonic	PTP4A1	.	frameshift insertion	PTP4A1:NM_001385266:exon6:c.425dupT:p.S147Ffs*55,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	1298.17	46	chr6	63580033	.	AT	A,ATT	1298.17	.	AC=12,2;AF=0.300,0.050;AN=40;BaseQRankSum=0.307;DP=1171;ExcessHet=14.4320;FS=0.603;InbreedingCoeff=-0.5084;MLEAC=11,1;MLEAF=0.275,0.025;MQ=60.00;MQRankSum=0.00;QD=1.92;ReadPosRankSum=-1.130e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/1:28,8,3:41:99:107,0,608,166,555,838	6	0	12	1
chr6	69962835	69962835	G	A	exonic	COL19A1	.	nonsynonymous SNV	COL19A1:NM_001858:exon11:c.G991A:p.G331S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.833	P	0.669	P	0.000	D	1.000	D	2.955	M	-5.75	D	1.097	D	0.971	D	0.608	2.456	14.17	5.2	2.599	4.333	14.604	0.870	0.109269620332	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294236513	1.375e-06	2.052e-06	1.368e-06	1.382e-06	1.806e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.806e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.66756	D	0.833	0.46172	P	0.669	0.53077	P	0.000213	0.47681	D	0.132704	0.976601	0.39291	D	3.775	0.95212	H	.	.	.	.	.	.	0.639	0.65159	1.097	0.99516	D	0.971	0.99091	D	10	0.9856405	0.98828	D	0.10927	0.78616	D	.	.	0.991	0.99904	0.676409406839	0.67366	0.8622976150248376	0.86193	.	.	0.573664188385	0.49195	T	0.841083	0.96294	D	0.106786	0.65018	D	-0.0843855	0.64583	T	0.990990161895752	0.81240	D	0.874613	0.58533	D	0.79001725	0.83274	0.7607314	0.85863	0.79001725	0.83276	0.7607314	0.85864	-8.98	0.67568	D	.	.	0.203	0.42749	B	.	.	4.397239	0.67907	25.2	0.95685738570186241	0.27554	0.88317	0.48190	D	AEFI	0.679220	0.64332	D	0.678838278342254	0.78246	6.833005	0.659050173898862	0.79286	7.050456	0.9875522483515	0.31292	0.651	0.46895	0	0.708844	0.79440	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.2	5.2	0.71720	4.465000	0.59876	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	14.604	0.68060	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	0.02381	797.98	33	chr6	69962835	.	G	A	797.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.540e-01;DP=728;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.78;ReadPosRankSum=0.098;SOR=0.607	GT:AD:DP:GQ:PL	0/1:21,33:54:99:812,0,474	20	0	1	0
chr6	73730508	73730508	G	C	exonic	CD109	.	nonsynonymous SNV	CD109:NM_001159587:exon4:c.G441C:p.K147N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.999	D	0.974	D	0.000	D	1.000	D	0.99	L	-0.81	T	-0.669	T	0.262	T	0.32	1.950	12.48	1.32	0.480	1.572	7.443	0.379	0.0681648577634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.084	0.41239	T	0.86	0.47373	P	0.561	0.49582	P	0.000063	0.52346	D	0.121974	0.927278	0.81001	D	1.685	0.43254	L	-0.81	0.73949	T	-2.44	0.53420	N	0.728	0.72925	-0.6692	0.61865	T	0.262	0.63350	T	10	0.7706835	0.77057	D	0.068165	0.70373	D	0.379	0.69696	0.605	0.73706	0.523082183605	0.51953	0.6049376649993708	0.60424	0.201168129084	0.22514	0.572387576103	0.49016	T	0.021601	0.16792	T	-0.0225458	0.48490	T	-0.270162	0.47803	T	0.874607993844681	0.52447	D	0.816118	0.47137	T	0.098481365	0.23229	0.10561609	0.25393	0.098481365	0.23229	0.10561609	0.25393	-5.553	0.42361	T	.	.	0.362	0.57355	A	.;.	.;.	3.296886	0.45244	22.1	0.99709601027882977	0.81213	0.80641	0.40226	D	AEFBI	0.267169	0.38393	N	-0.137678238521975	0.35760	2.058186	-0.153565321349564	0.33271	1.901473	0.696490180756331	0.22647	0.706548	0.73137	0	0.633656	0.55848	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.27	1.32	0.20897	1.740000	0.37852	3.183000	0.36666	-0.887000	0.02411	1.000000	0.71638	1.000000	0.68203	0.833000	0.39279	0.3949:0.0:0.6051:0.0	7.443	0.26364	886	0.28090	.;Alpha-2-macroglobulin, 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	0.07692	68.99	34	chr6	73730508	.	G	C	68.99	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-4.009e+00;DP=2245;ExcessHet=0.1072;FS=298.658;InbreedingCoeff=-0.1730;MLEAC=2;MLEAF=0.077;MQ=60.00;MQRankSum=0.00;QD=0.23;ReadPosRankSum=1.42;SOR=8.932	GT:AD:DP:GQ:PL	0/1:112,39:151:13:13,0,2061	11	0	2	8
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|1:40,26,0:66:99:0|1:80007990_G_C:678,0,1527,797,1602,2398:80007990	1	0	9	7
chr6	80007992	80007997	GTTTTG	-	exonic	TTK	.	nonframeshift deletion	TTK:NM_001166691:exon3:c.323_328del:p.S108_A110delinsT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	8059.53	71	chr6	80007991	.	AGTTTTG	A,AG,ATG	8059.53	.	AC=5,5,3;AF=0.119,0.119,0.071;AN=42;BaseQRankSum=-1.812e+00;DP=1299;ExcessHet=11.8493;FS=210.889;InbreedingCoeff=-0.4483;MLEAC=5,5,3;MLEAF=0.119,0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.164;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:40,9,16,0:65:99:.:.:547,140,1776,0,1477,1534,505,1796,1617,2110	8	0	5	0
chr6	80007993	80007997	TTTTG	-	exonic	TTK	.	stopgain	TTK:NM_001166691:exon3:c.324_328del:p.F109*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	8059.53	71	chr6	80007991	.	AGTTTTG	A,AG,ATG	8059.53	.	AC=5,5,3;AF=0.119,0.119,0.071;AN=42;BaseQRankSum=-1.812e+00;DP=1299;ExcessHet=11.8493;FS=210.889;InbreedingCoeff=-0.4483;MLEAC=5,5,3;MLEAF=0.119,0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.164;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:40,9,16,0:65:99:.:.:547,140,1776,0,1477,1534,505,1796,1617,2110	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|1:35,26,4:65:99:1|0:80007990_G_C:973,0,1451,769,852,1554:80007990	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|1:35,26,4:65:99:1|0:80007990_G_C:973,0,1451,769,852,1554:80007990	1	0	10	8
chr6	80007996	80007996	-	CCCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.327_328insCCCCC:p.A110Pfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1782.58	51	chr6	80007996	.	T	TCCCCC,*	1782.58	.	AC=4,3;AF=0.182,0.136;AN=22;BaseQRankSum=0.023;DP=924;ExcessHet=3.6146;FS=435.630;InbreedingCoeff=-0.2557;MLEAC=6,5;MLEAF=0.273,0.227;MQ=60.00;MQRankSum=0.00;QD=4.82;ReadPosRankSum=0.313;SOR=10.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:39,16,9:64:99:.:.:534,0,1530,140,1473,1772	4	0	4	10
chr6	80007996	80007996	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1782.58	51	chr6	80007996	.	T	TCCCCC,*	1782.58	.	AC=4,3;AF=0.182,0.136;AN=22;BaseQRankSum=0.023;DP=924;ExcessHet=3.6146;FS=435.630;InbreedingCoeff=-0.2557;MLEAC=6,5;MLEAF=0.273,0.227;MQ=60.00;MQRankSum=0.00;QD=4.82;ReadPosRankSum=0.313;SOR=10.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:39,16,9:64:99:.:.:534,0,1530,140,1473,1772	4	0	4	10
chr6	81752025	81752025	-	CCGCCGAAGTCGCCG	exonic	TENT5A	.	nonframeshift insertion	TENT5A:NM_017633:exon2:c.116_117insCGGCGACTTCGGCGG:p.G45_G46insDFGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	25831.7	45	chr6	81752010	.	ACCGCCGAAGTCGCCG	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG,A,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	25831.7	.	AC=22,7,4;AF=0.524,0.167,0.095;AN=42;BaseQRankSum=0.050;DP=1691;ExcessHet=0.0020;FS=1.111;InbreedingCoeff=0.5758;MLEAC=22,7,4;MLEAF=0.524,0.167,0.095;MQ=59.99;MQRankSum=0.00;QD=28.92;ReadPosRankSum=-7.030e-01;SOR=0.456	GT:AD:DP:GQ:PL	0/1:14,21,0,0:35:99:834,0,531,882,594,1476,882,594,1476,1476	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	0/1:14,21,0,0:35:99:834,0,531,882,594,1476,882,594,1476,1476	3	8	1	0
chr6	84171654	84171654	C	T	exonic	CEP162	.	nonsynonymous SNV	CEP162:NM_001286206:exon17:c.G2003A:p.R668Q	.	.	586	928	7	1	0	9	0.00482574	.	.	2820517	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.54	T	0.055	B	0.008	B	0.738	N	1.000	N	0.97	L	1.49	T	-0.948	T	0.016	T	0.046	1.093	9.461	0.592	0.091	-1.177	5.636	0.017	.	0.0023	0.00199681	0.0066	0.0007	0.0029	0	0.0279	0.0061	0.0104	0.0091	0.002956	457	154602	rs142624944	0.0032	0.0033	0.0031	0.0033	0.0070	0.0031	0.0031	0.0057	0.0056	0.0004	0.0009	0.0010	0	0.0152	0.0070	0.0028	0.0030	0.0062	0.0035	0.0035	0.0032	0.0038	0.0044	0.0033	0.0032	0.0038	0.0036	0.0004	0.0121	0.0008	0.0009	0	0.0167	0.0137	0.0042	0.0024	0.0044	0.395	0.10659	T	0.657	0.06576	T	0.055	0.22733	B	0.008	0.13708	B	0.738434	0.09796	N	0.878115	1	0.08975	N	1.485	0.37223	L	1.49	0.31470	T	-0.7	0.19933	N	0.111	0.09914	-0.9481	0.41296	T	0.016	0.06616	T	10	0.002163887	0.00031	T	.	.	.	0.017	0.02790	.	.	0.0611884634855	0.05136	0.12478103710927478	0.12404	0.0184041785563	0.01797	0.230163395405	0.01980	T	0.007522	0.06921	T	-0.681509	0.00047	T	-0.747011	0.03604	T	0.0170301523191542	0.00451	T	0.675632	0.28413	T	0.035422776	0.04166	0.028137911	0.01023	0.035422776	0.04165	0.028137911	0.01022	-5.384	0.40765	T	.	.	0.077	0.06525	B	.;.;.	.;.;.	1.238415	0.16341	12.48	0.93773666028667269	0.23728	0.02449	0.06892	N	AEFBI	0.037134	0.05058	N	-0.91964373721161	0.10383	0.4959058	-0.826278423357771	0.13859	0.7212081	9.41714521446526E-6	0.01202	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.43	0.592	0.16654	-1.134000	0.03340	-0.802000	0.07370	-0.230000	0.07744	0.000000	0.06391	0.000000	0.08366	0.981000	0.58702	0.1262:0.4481:0.0:0.4257	5.636	0.16811	582	0.69555	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2041.11	34	chr6	84171654	.	C	T	2041.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.400e-02;DP=830;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=0.502;SOR=0.695	GT:AD:DP:GQ:PL	0/1:41,46:87:99:978,0,834	19	0	2	0
chr6	87418396	87418396	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G820C:p.V274L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.097	B	0.11	B	0.099	N	1.000	N	1.04	L	1.55	T	-0.985	T	0.016	T	0.051	1.919	12.37	-6.98	-1.253	0.061	8.727	0.026	0.0107427859896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.513e-05	0.0003	1.917e-05	1.106e-05	1.991e-05	9.91e-06	8.46e-06	1.304e-05	1.113e-05	0	0	0	0	0	0	1.991e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.343	0.17857	T	0.02	0.18235	B	0.032	0.22131	B	0.098836	0.19962	N	0.536219	0.999595	0.20909	N	.	.	.	1.55	0.29866	T	-0.84	0.22944	N	0.136	0.13341	-0.9845	0.33951	T	0.016	0.06711	T	10	0.103265375	0.18974	T	0.010743	0.27620	T	0.026	0.05648	0.395	0.42099	0.0954503805726	0.09146	0.19020201639342502	0.18938	0.19954006279	0.22355	.	.	.	0.119676	0.44138	T	-0.336867	0.05608	T	-0.721662	0.04715	T	0.0796661600470543	0.09943	T	0.69863	0.30863	T	0.034879714	0.04001	0.093172565	0.21994	0.034879714	0.04001	0.093172565	0.21993	-3.521	0.16727	T	.	.	0.158	0.34949	B	.	.	0.840487	0.12120	8.673	0.80669705967739813	0.13312	0.64434	0.32406	D	AEFI	0.131428	0.25036	N	-0.974096222241832	0.09159	0.4323572	-0.954286185025139	0.10824	0.5476554	0.0029963270333614	0.09855	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.16	-6.98	0.01454	0.167000	0.16419	0.396000	0.17945	-0.241000	0.07509	0.882000	0.31029	0.767000	0.26670	0.976000	0.56436	0.1402:0.1105:0.6398:0.1095	8.727	0.33637	819	0.41190	.	.	.	.	.	.	Uncertain significance	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	0.3421	1158.48	77	chr6	87418396	.	G	C	1158.48	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.018e+00;DP=1449;ExcessHet=12.7758;FS=261.195;InbreedingCoeff=-0.5695;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=1.28;ReadPosRankSum=1.16;SOR=11.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:41,17:58:9:.:.:9,0,490	6	0	13	2
chr6	88059516	88059516	G	A	exonic	SPACA1	.	nonsynonymous SNV	SPACA1:NM_030960:exon5:c.G538A:p.A180T,	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.753	P	0.349	B	0.009	N	0.980	N	1.59	L	1.95	T	-1.079	T	0.024	T	0.427	1.580	11.24	4.64	1.317	3.310	9.853	0.070	0.00559961271463	.	.	8.282e-06	0	0	0	0	0	0	6.116e-05	6.5e-06	1	154602	rs762285405	1.643e-05	1.642e-05	1.362e-05	1.926e-05	0.0005	1.111e-05	9.34e-06	0.0001	7.544e-05	0	0	0	0	1.873e-05	0.0005	8.097e-06	1.656e-05	0.0001	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.096	0.31088	T	0.192	0.28300	T	0.753	0.43334	P	0.349	0.42787	B	0.008941	0.30588	N	0.281863	0.979647	0.25167	N	2.25	0.63811	M	1.95	0.22474	T	-2.27	0.50666	N	0.223	0.25006	-1.0790	0.07543	T	0.024	0.10284	T	10	0.21519649	0.38064	T	0.006	0.14469	T	0.070	0.20419	0.289	0.24921	0.401612077098	0.39776	0.25364453869830067	0.25278	0.292073870543	0.31614	0.342493981123	0.16811	T	0.061107	0.31566	T	-0.309187	0.07820	T	-0.445234	0.28225	T	0.732168674468994	0.42322	D	0.762524	0.38803	T	0.07457932	0.16745	0.09552213	0.22659	0.07457932	0.16745	0.09552213	0.22658	-1.343	0.01472	T	.	.	0.172	0.37783	B	.	.	1.898312	0.24109	16.27	0.99247887607578689	0.56759	0.73432	0.35920	D	AEFGBIJ	0.108773	0.21627	N	0.0781759903106359	0.45445	2.800992	0.0812748153666223	0.43608	2.659007	0.00224704135158512	0.09262	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	4.64	0.57399	3.420000	0.52493	5.812000	0.50015	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.668000	0.33194	0.1621:0.0:0.8379:0.0	9.853	0.40234	400	0.82730	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	744.98	36	chr6	88059516	.	G	A	744.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.010e-01;DP=783;ExcessHet=0.0000;FS=0.817;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.56;ReadPosRankSum=-7.150e-01;SOR=0.771	GT:AD:DP:GQ:PL	0/1:51,36:87:99:759,0,1231	20	0	1	0
chr6	89751527	89751527	G	A	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon23:c.C3131T:p.A1044V,	.	.	430	1088	4	0	0	4	0.00183486	.	.	3205993	MDN1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.25	T	0.037	B	0.012	B	0.007	N	0.930	N	0.69	N	4.01	T	-1.051	T	0.017	T	0.089	2.963	15.88	5.71	2.689	7.183	19.863	0.061	.	0.0067	0.00599042	0.0018	0.0193	0.0008	0	0	2.998e-05	0	0.0002	0.0017335	268	154602	rs34764513	0.0006	0.0006	0.0007	0.0005	0.0203	0.0006	0.0005	0.0190	0.0185	0.0203	0.0008	0	2.52e-05	0	0.0010	3.957e-05	0.0014	3.478e-05	0.0058	0.0058	0.0062	0.0054	0.0202	0.0055	0.0054	0.0190	0.0186	0.0202	0	0.0020	0	0	0	0	2.941e-05	0.0057	0.0004	0.709	0.15303	T	0.276	0.21947	T	0.037	0.20876	B	0.012	0.16012	B	0.006924	0.31707	N	0.303152	0.930316	0.27074	N	1.355	0.33814	L	4.01	0.18083	T	-1.78	0.48523	N	0.267	0.31253	-1.0507	0.14203	T	0.017	0.06902	T	10	0.004235357	0.00085	T	.	.	.	0.061	0.17616	.	.	0.117191471859	0.11215	0.43681107129476615	0.43598	0.153493315796	0.17316	0.367078244686	0.20411	T	0.009509	0.08653	T	-0.595249	0.00156	T	-0.61089	0.11913	T	0.0540678540156094	0.06201	T	0.716128	0.34567	T	0.06554589	0.14020	0.09213954	0.21700	0.06554589	0.14019	0.09213954	0.21700	-7.438	0.57172	T	.	.	0.093	0.16187	B	.;.;.	.;.;.	3.708803	0.52937	23.3	0.95514063250951431	0.27122	0.98370	0.82087	D	AEFBI	0.768047	0.70372	D	0.0601487895694336	0.44610	2.731953	0.281835417868857	0.54478	3.612783	0.999709550829031	0.41986	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.71	5.71	0.89031	7.299000	0.78160	9.806000	0.81721	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	19.863	0.96786	773	0.48803	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	37	chr6	89751527	.	G	A	1701.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.200e-01;DP=839;ExcessHet=0.0000;FS=1.453;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=-1.679e+00;SOR=0.843	GT:AD:DP:GQ:PL	0/1:50,72:122:99:1716,0,1108	20	0	1	0
chr6	118924037	118924037	C	T	exonic	MCM9	.	nonsynonymous SNV	MCM9:NM_001378356:exon3:c.G395A:p.R132Q	Ovarian dysgenesis 4, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.997	D	.	.	1.000	D	2.995	M	3.15	T	-1.022	T	0.076	T	0.92	5.409	34	5.48	2.562	5.452	19.353	0.430	0.0895607262279	.	0.000199681	7.413e-05	9.612e-05	0	0.0008	0	1.498e-05	0	0	0.0001229	19	154602	rs367896634	5.814e-05	5.814e-05	6.398e-05	5.225e-05	0.0006	4.809e-05	4.431e-05	0.0004	0.0003	0	6.708e-05	0	0.0006	0	0	1.169e-05	0.0008	0	8.536e-05	8.53e-05	0.0001	5.371e-05	0.0014	4.954e-05	3.96e-05	0.0006	0.0004	2.407e-05	0	0.0001	0	0.0014	0	0	1.47e-05	0.0009	0	0.0	0.91255	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	2.81	0.81869	M	3.15	0.07820	T	-3.81	0.71882	D	0.581	0.60664	-1.0225	0.22899	T	0.076	0.30645	T	9	0.45598632	0.58992	T	0.089561	0.75350	D	0.430	0.73662	0.788	0.91068	0.76190393038	0.75974	0.7251166702696283	0.72455	0.589894200002	0.54471	0.610629141331	0.54405	T	0.532988	0.83872	D	-0.00397439	0.51105	T	0.0865159	0.76013	D	0.888510942459106	0.53912	D	0.974802	0.91047	D	0.7238365	0.79375	0.6512525	0.79593	0.7238365	0.79377	0.6512525	0.79594	-12.265	0.86117	D	.	.	0.379	0.65951	A	.;.;.;.	.;.;.;.	4.962159	0.82058	27.7	0.99955486681095174	0.99975	0.99301	0.94181	D	AEFBI	0.606657	0.59691	D	0.853467274942053	0.89305	9.91746	0.800991422546826	0.89862	10.15304	0.999999985382488	0.74766	0.651	0.46895	0	0.615513	0.52658	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.48	5.48	0.80675	5.527000	0.66837	5.939000	0.51448	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	19.353	0.94387	494	0.76445	MCM OB domain;MCM OB domain;MCM OB 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	2548.98	39	chr6	118924037	.	C	T	2548.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=1044;ExcessHet=0.0000;FS=2.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.73;ReadPosRankSum=-2.420e-01;SOR=0.847	GT:AD:DP:GQ:PL	0/1:149,113:262:99:2563,0,3354	20	0	1	0
chr6	118975984	118975984	T	C	exonic	FAM184A	.	nonsynonymous SNV	FAM184A:NM_001100411:exon12:c.A2156G:p.N719S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.003	B	0.013	B	0.043	N	1.000	D	1.61	L	2.58	T	-0.942	T	0.014	T	0.02	0.297	5.607	-2.89	-0.835	-0.182	10.866	0.051	0.00278515324792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382	0.11120	T	0.318	0.19246	T	0.003	0.11197	B	0.013	0.16460	B	0.043193	0.23764	N	0.474960	0.927997	0.27131	N	1.95	0.52479	M	2.52	0.21666	T	-0.23	0.12283	N	0.05	0.04913	-0.9420	0.42298	T	0.014	0.05705	T	10	0.02553171	0.00744	T	0.002785	0.05781	T	0.051	0.14325	0.135	0.03920	0.0482279557977	0.04254	0.05908708837999286	0.05848	0.114882793964	0.12965	0.255550801754	0.04375	T	0.004406	0.06247	T	-0.353972	0.04483	T	-0.746233	0.03635	T	0.0854333937168121	0.10667	T	0.854015	0.59977	D	0.031558435	0.03017	0.037560426	0.03434	0.031558435	0.03017	0.037560426	0.03434	-2.053	0.03388	T	.	.	0.052	0.00280	B	.;.;.;.;.;.	.;.;.;.;.;.	0.438904	0.08091	4.818	0.67561984020219845	0.08392	0.46201	0.27707	N	AEFI	0.133063	0.25259	N	-0.963977134281525	0.09381	0.4437643	-0.913070484706453	0.11784	0.6025158	2.59677408594814E-4	0.06190	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.21	-2.89	0.05326	-0.004000	0.12813	-0.255000	0.10474	-0.311000	0.06080	0.697000	0.28597	0.211000	0.23643	0.991000	0.66497	0.0:0.4317:0.0:0.5683	10.866	0.46063	612	0.66786	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	61.27	33	chr6	118975984	.	T	C	61.27	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.654e+00;DP=942;ExcessHet=0.6776;FS=108.073;InbreedingCoeff=-0.1017;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.28;ReadPosRankSum=1.59;SOR=9.553	GT:AD:DP:GQ:PL	0/1:57,18:75:19:19,0,800	17	0	4	0
chr6	131709902	131709903	AT	-	exonic	CTAGE9	.	frameshift deletion	CTAGE9:NM_001145659:exon1:c.1115_1116del:p.Y372Ffs*2,	.	.	460	1061	1	0	0	1	0.000471032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	0.0013	0	0	0.0049	0.0031	0.0013	0.0043	0.0007	0.0003558	55	154602	rs527449117	0.0004	0.0004	0.0004	0.0004	0.0041	0.0004	0.0004	0.0036	0.0034	0	7.828e-05	0.0018	0.0041	0.0017	0.0005	0.0002	0.0007	0.0007	0.0006	0.0005	0.0005	0.0006	0.0042	0.0005	0.0004	0.0028	0.0024	4.912e-05	0	6.649e-05	0.0023	0.0042	0.0020	0	0.0003	0.0010	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2017.94	35	chr6	131709901	.	AAT	A	2017.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.095;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=34.58;MQRankSum=0.431;QD=19.59;ReadPosRankSum=1.43;SOR=0.726	GT:AD:DP:GQ:PL	0/1:49,54:103:99:2032,0,1794	20	0	1	0
chr6	132539221	132539221	A	G	exonic	TAAR9	.	nonsynonymous SNV	TAAR9:NM_175057:exon1:c.A932G:p.Y311C,	.	.	414	1106	2	0	0	2	0.000903342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	.	0.0003	0	0.0001	0	0	0.0005	0.0013	6.996e-05	0.0002329	36	154602	rs200407216	0.0006	0.0006	0.0007	0.0006	0.0014	0.0006	0.0006	0.0007	0.0007	2.993e-05	0.0004	0	0	1.877e-05	0.0014	0.0008	0.0004	5.826e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	7.216e-05	0	0.0002	0	0	0	0.0034	0.0004	0.0005	0	.	.	.	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	.	.	.	4.79	0.99631	H	.	.	.	.	.	.	0.723	0.72477	.	.	.	.	.	.	.	0.7787037	0.77673	D	.	.	.	.	.	.	.	0.503498835695	0.49987	0.4643693624999804	0.46355	.	.	0.49833291769	0.38595	T	0.210432	0.57092	T	0.220045	0.75780	D	0.406264	0.92315	D	.	.	.	0.973753	0.90539	D	0.5436265	0.69600	0.63690436	0.78798	0.5436265	0.69601	0.63690436	0.78799	-11.439	0.82011	D	.	.	0.575	0.67852	P	.	.	3.929178	0.57419	23.9	0.99791861277404548	0.87750	0.99598	0.97841	D	AEBI	0.918573	0.88782	D	.	.	.	.	.	.	0.999984038548322	0.51787	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	.	.	5.28	5.28	0.74118	9.284000	0.95036	7.772000	0.68491	0.756000	0.94297	1.000000	0.71638	0.955000	0.29136	0.695000	0.33988	1.0:0.0:0.0:0.0	15.370	0.74274	886	0.28090	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	1733.98	37	chr6	132539221	.	A	G	1733.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=948;ExcessHet=0.0000;FS=2.713;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.02;ReadPosRankSum=0.156;SOR=0.949	GT:AD:DP:GQ:PL	0/1:101,72:173:99:1748,0,2513	20	0	1	0
chr6	132570536	132570536	C	T	exonic	TAAR6	.	nonsynonymous SNV	TAAR6:NM_175067:exon1:c.C215T:p.A72V,	.	.	419	1092	10	1	0	12	0.00546448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.001	B	0.01	B	0.389	N	0.999	N	0.965	L	-0.41	T	-1.037	T	0.072	T	0.152	0.804	8.226	2.99	0.580	0.329	3.351	0.027	0.0153724649248	0.0051	0.00299521	0.0047	0.0013	0.0027	0	0.0012	0.0066	0.0077	0.0047	0.0046701	722	154602	rs41298393	0.0063	0.0063	0.0064	0.0062	0.0071	0.0062	0.0062	0.0069	0.0069	0.0007	0.0026	0.0090	0	0.0018	0.0054	0.0071	0.0073	0.0050	0.0044	0.0044	0.0046	0.0042	0.0070	0.0041	0.0040	0.0065	0.0063	0.0013	0	0.0035	0.0136	0	0.0012	0	0.0070	0.0024	0.0052	0.127	0.27080	T	0.285	0.21343	T	0.001	0.07471	B	0.01	0.14941	B	0.388614	0.13288	N	0.647720	0.998759	0.21933	N	0.465	0.13073	N	-0.41	0.69413	T	-0.64	0.18670	N	0.272	0.30800	-1.0368	0.18295	T	0.072	0.29163	T	10	0.01765579	0.00378	T	0.015372	0.36062	T	0.027	0.05988	.	.	0.0551355673512	0.04727	0.03689239476168578	0.03636	0.0155995811599	0.01492	0.260868877172	0.04994	T	0.00793	0.07302	T	-0.467413	0.00883	T	-0.439056	0.28915	T	0.00931370389656971	0.00119	T	0.845715	0.52486	T	0.07378463	0.16511	0.11521737	0.27812	0.07378463	0.16511	0.11521737	0.27811	-5.116	0.38075	T	.	.	0.190	0.40762	B	.	.	1.334194	0.17395	13.14	0.9825706105384695	0.39630	0.04132	0.09612	N	AEFBI	0.044118	0.07058	N	-0.831328822167757	0.12514	0.6104714	-0.834485271784641	0.13661	0.7098724	0.0621001309442462	0.15252	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	4.84	2.99	0.33673	0.485000	0.22033	-3.300000	0.02895	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.4796:0.204:0.3164	3.351	0.06734	830	0.39242	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	2406.98	34	chr6	132570536	.	C	T	2406.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=959;ExcessHet=0.0000;FS=3.319;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=0.296;SOR=0.802	GT:AD:DP:GQ:PL	0/1:92,96:188:99:2421,0,2034	20	0	1	0
chr6	132726754	132726754	G	A	exonic	VNN3	.	nonsynonymous SNV	VNN3:NM_001368149:exon3:c.C23T:p.A8V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.000	U	1.000	D	.	.	-2.25	D	-0.864	T	0.167	T	0.584	2.640	14.79	3.52	0.731	4.956	11.094	0.669	.	.	0.000399361	0.0002	0	0	0	0	0.0001	0	0.0018	0.000207	32	154602	rs571816589	9.155e-05	9.371e-05	5.672e-05	0.0001	0.0011	7.855e-05	7.39e-05	0.0010	0.0009	0	0	0	0	5.696e-05	0	2.833e-05	5.082e-05	0.0011	0.0001	0.0001	0.0001	0.0002	0.0010	9.738e-05	8.253e-05	0.0004	0.0003	0	0	0	0	0	0	0	0.0002	0.0005	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0133334	0.81001	A	.	.	.	.	.	.	.	.	.	0.267	0.30233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.185447	0.22928	T	-0.0895984	0.64191	T	0.127325683832169	0.15132	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	2.410267	0.30976	18.60	0.98149367934244303	0.38672	0.95298	0.64178	D	AEFDGI	0.589391	0.58629	D	-0.166585184925574	0.34531	1.972129	-0.179868643329794	0.32278	1.834764	0.380108900451063	0.19953	0.497415	0.19182	0	0.491513	0.07743	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.31	3.52	0.39415	4.432000	0.59666	4.297000	0.42929	0.618000	0.50648	0.864000	0.30684	0.896000	0.27899	0.990000	0.65344	0.07:0.1291:0.8009:0.0	11.094	0.47355	902	0.24074	.	.	.	.	.	.	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	1075.98	35	chr6	132726754	.	G	A	1075.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.477e+00;DP=799;ExcessHet=0.0000;FS=4.159;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=0.457;SOR=0.360	GT:AD:DP:GQ:PL	0/1:42,43:85:99:1090,0,1203	20	0	1	0
chr6	135193907	135193907	G	A	exonic	MYB	.	nonsynonymous SNV	MYB:NM_001130172:exon7:c.G832A:p.A278T	.	.	.	.	.	.	.	.	.	.	.	2425327	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	1.65	L	2.66	T	-0.934	T	0.129	T	0.57	5.023	29.6	5.1	2.367	7.822	18.509	0.303	0.0588537283763	.	.	6.593e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs769759766	5.497e-05	5.61e-05	5.199e-05	5.797e-05	0.0007	4.496e-05	4.165e-05	0.0002	0.0001	9.004e-05	0	7.67e-05	0	0	0.0007	5.695e-05	8.306e-05	3.483e-05	5.259e-05	5.254e-05	6.425e-05	4.038e-05	0.0002	2.558e-05	1.831e-05	1.972e-05	1.125e-05	7.243e-05	0	0	0	0	0	0	5.881e-05	0	0.0002	0.008	0.68238	D	0.485	0.53426	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.905	0.50856	L	2.66	0.33412	T	-2.32	0.51478	N	0.542	0.64903	-0.9342	0.43515	T	0.129	0.43807	T	10	0.47473508	0.60075	T	0.058854	0.67462	D	0.303	0.62400	0.538	0.64874	0.484951665652	0.48126	0.7351077485672409	0.73455	2.20439237927	0.95697	0.777692317963	0.78580	T	0.311302	0.86630	T	-0.190536	0.22179	T	-0.251789	0.49639	T	0.454390466213226	0.30958	T	0.915608	0.70605	D	0.2837577	0.51406	0.32309842	0.58244	0.2837577	0.51406	0.32309842	0.58243	-4.649	0.33681	T	.	.	0.223	0.59143	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.680941	0.74909	26.2	0.99911508515255554	0.98095	0.98752	0.86398	D	AEFBI	0.905118	0.85624	D	0.72371423986025	0.81186	7.463779	0.711378369282018	0.83244	7.970875	0.999999999999673	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	5.1	5.1	0.68917	7.940000	0.87153	11.806000	0.96793	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.706000	0.34326	0.0:0.0:1.0:0.0	18.509	0.90857	788	0.46569	Transcription regulator Wos2-domain;.;Transcription regulator Wos2-domain;Transcription regulator Wos2-domain;.;Transcription regulator Wos2-domain;Transcription regulator Wos2-domain;Transcription regulator Wos2-domain;.;.;.;.;.;Transcription regulator Wos2-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	1038.98	33	chr6	135193907	.	G	A	1038.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.419;DP=758;ExcessHet=0.0000;FS=3.025;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=1.41;SOR=0.395	GT:AD:DP:GQ:PL	0/1:37,42:79:99:1053,0,868	20	0	1	0
chr6	138404520	138404520	C	T	exonic	HEBP2	.	nonsynonymous SNV	HEBP2:NM_001326381:exon1:c.C25T:p.P9S	.	.	444	1067	11	0	0	11	0.00512821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.0	B	0.0	B	0.489	N	1.000	N	1.39	L	1.98	T	-0.995	T	0.011	T	0.064	1.263	10.12	1.03	-0.037	-0.194	2.552	0.011	.	.	0.000998403	0.0114	0	0	0	.	0.0577	.	0.0037	0.0004592	71	154602	rs534012762	0.0057	0.0049	0.0059	0.0056	0.0063	0.0056	0.0056	0.0062	0.0061	0.0009	0.0014	0.0073	3.705e-05	0.0015	0.0059	0.0063	0.0052	0.0028	0.0036	0.0036	0.0038	0.0034	0.0048	0.0034	0.0033	0.0044	0.0042	0.0012	0.0833	0.0022	0.0063	0	0.0024	0.0034	0.0048	0.0019	0.0029	0.331	0.13088	T	0.535	0.11586	T	0.0	0.02946	B	0.0	0.01387	B	0.488886	0.05024	N	1.355200	1	0.08975	N	0.69	0.16971	N	.	.	.	0.23	0.04613	N	0.081	0.06454	-0.9953	0.31218	T	0.011	0.04181	T	10	0.0024902225	0.00037	T	.	.	.	0.011	0.01250	.	.	0.0401082797425	0.02173	0.4642122900808919	0.46340	0.0449599093349	0.04864	0.670815944672	0.62954	T	0.008932	0.08161	T	-0.620581	0.00109	T	-0.665036	0.07931	T	0.0324723263188649	0.02384	T	0.430757	0.11694	T	0.023709381	0.01135	0.050705973	0.08014	0.023709381	0.01135	0.050705973	0.08013	-3.704	0.19377	T	.	.	0.076	0.05890	B	.;.	.;.	0.255849	0.06345	2.809	0.90006153036151082	0.19296	0.02469	0.06929	N	ALL	0.035778	0.04661	N	-1.34913558973648	0.03134	0.1395019	-1.37821957523217	0.03485	0.1626643	0.999999971033769	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.92	1.03	0.19161	-0.105000	0.10876	0.131000	0.15046	-0.295000	0.06246	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.1702:0.5046:0.2109:0.1143	2.552	0.04462	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	0.02381	486.98	27	chr6	138404520	.	C	T	486.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=563;ExcessHet=0.0000;FS=2.087;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.04;ReadPosRankSum=1.23;SOR=0.202	GT:AD:DP:GQ:PL	0/1:11,16:27:99:501,0,346	20	0	1	0
chr6	138911287	138911287	G	A	exonic	REPS1	.	nonsynonymous SNV	REPS1:NM_001286612:exon14:c.C1783T:p.P595S	.	.	428	1086	7	1	0	9	0.00412655	.	.	626156	Neurodegeneration_with_brain_iron_accumulation_7|not_provided|REPS1-related_disorder	MONDO:MONDO:0054763,MedGen:C4693583,OMIM:617916|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.71	T	0.546	P	0.225	B	0.002	N	1.000	D	-0.345	N	1.56	T	-1.036	T	0.018	T	0.63	2.447	14.14	5.35	2.785	5.852	17.418	0.178	0.0117638402873	0.0015	0.00119808	0.0013	0.0003	0.0009	0	0	0.0021	0.0022	0.0003	0.0013066	202	154602	rs144226246	0.0016	0.0016	0.0016	0.0017	0.0040	0.0016	0.0015	0.0027	0.0023	0.0003	0.0017	0.0113	0	0.0001	0.0040	0.0016	0.0023	0.0005	0.0012	0.0012	0.0012	0.0012	0.0014	0.0010	0.0010	0.0011	0.0010	0.0003	0.0011	0.0012	0.0141	0	0	0.0068	0.0014	0.0005	0.0008	0.107	0.29554	T	0.344	0.18732	T	0.03	0.38028	B	0.013	0.38015	B	0.001765	0.38052	N	0.268813	0.979802	0.81001	D	-0.205	0.04094	N	1.56	0.30669	T	-1.39	0.42191	N	0.479	0.56833	-1.0361	0.18513	T	0.018	0.07470	T	10	0.00639382	0.00145	T	0.011764	0.29704	T	0.178	0.44724	.	.	0.20808081866	0.20439	0.08486331132841375	0.08420	0.254390484647	0.28010	0.470694065094	0.34776	T	0.214761	0.57643	T	-0.357278	0.04286	T	-0.304996	0.44194	T	0.0186419217957266	0.00578	T	0.884611	0.60805	D	0.07976423	0.18239	0.07931246	0.17843	0.08661737	0.20138	0.07794004	0.17409	-2.957	0.10052	T	0.1393074874601666	0.15491	0.067	0.04806	B	.;.;.;.;.	.;.;.;.;.	3.364269	0.46465	22.3	0.98620663450897494	0.43771	0.98695	0.85684	D	AEFBI	0.676370	0.64143	D	-0.167214858411733	0.34505	1.970286	0.0765075659218673	0.43369	2.640152	0.999177448897513	0.38651	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.35	5.35	0.76297	4.382000	0.59360	8.694000	0.78086	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	17.418	0.87399	919	0.19497	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1096.98	35	chr6	138911287	.	G	A	1096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.263e+00;DP=763;ExcessHet=0.0000;FS=0.934;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.24;ReadPosRankSum=-7.040e-01;SOR=0.889	GT:AD:DP:GQ:PL	0/1:27,45:72:99:1111,0,640	20	0	1	0
chr6	144186773	144186773	G	A	exonic	STX11	.	nonsynonymous SNV	STX11:NM_003764:exon2:c.G146A:p.R49Q,	Hemophagocytic lymphohistiocytosis, familial, 4, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	252151	not_specified|Autoinflammatory_syndrome|Familial_hemophagocytic_lymphohistiocytosis_4	MedGen:CN169374|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0011336,MedGen:C1863728,OMIM:603552,Orphanet:540	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.002	B	0.003	B	0.000	N	1.000	N	-2.65	N	2.42	T	-0.929	T	0.002	T	0.025	0.503	6.728	2.05	0.127	3.387	10.120	0.113	.	0.0048	0.0199681	0.0076	0.0179	0.0011	0.0639	0.0064	0.0008	0.0067	0.0039	0.0071086	1099	154602	rs17073498	0.0028	0.0028	0.0029	0.0028	0.0541	0.0028	0.0027	0.0522	0.0514	0.0187	0.0012	0	0.0541	0.0067	0.0019	0.0002	0.0072	0.0035	0.0081	0.0081	0.0081	0.0082	0.0633	0.0077	0.0076	0.0577	0.0555	0.0170	0	0.0022	0	0.0633	0.0071	0	0.0005	0.0104	0.0070	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.003	0.08700	B	0.000049	0.53742	N	0.166978	0.999998	0.08975	N	-1.38	0.00630	N	2.42	0.15376	T	3.2	0.00116	N	0.051	0.02272	-0.9292	0.44256	T	0.002	0.00585	T	10	0.0014668703	0.00016	T	.	.	.	0.113	0.31778	.	.	0.239901079897	0.23603	0.12129155337351372	0.12056	0.42421969197	0.42855	0.283109098673	0.07929	T	0.019247	0.15372	T	-0.739416	0.00021	T	-0.781442	0.02410	T	0.00185052502255932	0.00019	T	0.281572	0.04927	T	0.047392707	0.08094	0.06401404	0.12768	0.047392707	0.08094	0.06401404	0.12767	-3.431	0.15477	T	0.030346758965571964	0.00085	0.067	0.02518	B	.	.	1.660977	0.21183	15.09	0.60829413673498112	0.06558	0.02730	0.07398	N	AEFDGBI	0.032910	0.03808	N	-1.06588859702686	0.07280	0.3376806	-0.738321478532382	0.16010	0.8448758	0.550249113910825	0.21327	0.631515	0.41029	0	0.697927	0.68747	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.85	2.05	0.25860	3.353000	0.51962	1.900000	0.29576	-0.040000	0.17491	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.7408:0.0:0.2592:0.0	10.120	0.41787	792	0.45996	Syntaxin, N-terminal domain|Syntaxin, N-terminal domain|Syntaxin, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1543.98	41	chr6	144186773	.	G	A	1543.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=853;ExcessHet=0.0000;FS=2.161;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=0.364;SOR=0.914	GT:AD:DP:GQ:PL	0/1:82,60:142:99:1558,0,2117	20	0	1	0
chr6	151349521	151349521	T	C	exonic	AKAP12	.	nonsynonymous SNV	AKAP12:NM_001370346:exon2:c.T815C:p.V272A	.	.	433	1077	12	0	0	12	0.00554017	.	.	721802	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.75	T	0.023	B	0.027	B	0.076	N	1.000	N	1.32	L	3.12	T	-0.914	T	0.006	T	0.192	0.310	5.679	3.65	0.807	1.079	7.226	0.021	.	0.0061	0.00279553	0.0065	0.0009	0.0016	0.0001	0.0162	0.0084	0.0044	0.0053	0.0063195	977	154602	rs142810400	0.0083	0.0083	0.0082	0.0083	0.0090	0.0081	0.0081	0.0089	0.0088	0.0010	0.0020	0.0040	5.041e-05	0.0151	0.0021	0.0090	0.0081	0.0058	0.0058	0.0058	0.0052	0.0064	0.0078	0.0055	0.0054	0.0073	0.0071	0.0014	0.0033	0.0038	0.0032	0	0.0174	0	0.0078	0.0033	0.0061	0.092	0.38407	T	0.789	0.04207	T	0.013	0.18885	B	0.012	0.21085	B	0.075730	0.21205	N	0.245556	1	0.08975	N	1.095	0.27400	L	3.11	0.08194	T	-1.54	0.37375	N	0.172	0.18784	-0.9140	0.46351	T	0.006	0.01981	T	10	0.004445702	0.00091	T	.	.	.	0.021	0.04004	.	.	0.263140351381	0.25927	0.053273935373031024	0.05269	0.213654222059	0.23881	0.32522007823	0.14211	T	0.087517	0.37960	T	-0.607922	0.00130	T	-0.639191	0.09727	T	0.00249716058055952	0.00026	T	0.660234	0.26930	T	0.09422135	0.22147	0.07645682	0.16935	0.09422135	0.22147	0.07645682	0.16935	-2.926	0.09406	T	.	.	0.337	0.65881	B	.;.;.;.	.;.;.;.	2.229731	0.28461	17.80	0.80135290161367345	0.13061	0.10289	0.15837	N	AEFDBCI	0.090025	0.18244	N	-0.796056881290142	0.13413	0.6605449	-0.765367772779885	0.15345	0.8066053	0.886995468555668	0.25755	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.81	3.65	0.40985	-0.417000	0.07153	2.175000	0.31084	0.665000	0.62972	0.000000	0.06391	1.000000	0.68203	0.235000	0.22869	0.0:0.2494:0.0:0.7506	7.226	0.25193	928	0.17405	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1028.98	68	chr6	151349521	.	T	C	1028.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.343e+00;DP=1357;ExcessHet=0.0000;FS=1.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=0.649;SOR=0.753	GT:AD:DP:GQ:PL	0/1:34,41:75:99:1043,0,973	20	0	1	0
chr6	155176873	155176873	G	A	exonic	TIAM2	.	nonsynonymous SNV	TIAM2:NM_001384547:exon9:c.G2419A:p.A807T	.	.	435	1070	16	1	0	18	0.00834106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.002	B	0.004	B	0.667	N	1.000	N	0.205	N	3.65	T	-0.920	T	0.002	T	0.04	0.224	5.207	-10.6	-3.476	-1.179	1.430	0.011	0.00412485520317	0.0007	0.00159744	0.0015	9.66e-05	0.0002	0	0	0.0006	0	0.0087	0.001326	205	154602	rs35964434	0.0009	0.0009	0.0006	0.0012	0.0092	0.0009	0.0009	0.0087	0.0085	0.0002	6.709e-05	7.653e-05	0.0001	9.362e-05	0.0073	0.0004	0.0017	0.0092	0.0007	0.0007	0.0006	0.0008	0.0102	0.0006	0.0005	0.0079	0.0071	2.405e-05	0	0.0007	0.0003	0	9.418e-05	0.0170	0.0005	0.0019	0.0102	0.533	0.09687	T	0.675	0.06205	T	0.0	0.09854	B	0.002	0.10090	B	0.666996	0.06013	N	1.159380	1	0.08975	N	0	0.06538	N	3.65	0.05188	T	-0.3	0.11913	N	0.061	0.13911	-0.9198	0.45581	T	0.002	0.00556	T	10	0.0040363967	0.00078	T	0.004125	0.09869	T	0.011	0.01250	.	.	0.0716867268079	0.06686	0.24427617280808442	0.24341	0.212021421631	0.23700	0.231200873852	0.02058	T	0.011179	0.10005	T	-0.759165	0.00015	T	-0.857291	0.00872	T	0.0221722899805699	0.00928	T	0.506749	0.21633	T	0.030439578	0.02707	0.042848244	0.05196	0.030439578	0.02706	0.042848244	0.05196	-3.162	0.14802	T	.	.	0.063	0.01600	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.428380	0.00038	0.001	0.72413204547151	0.09965	0.02328	0.06665	N	AEFDGBHCI	0.024199	0.01460	N	-1.97331798650765	0.00241	0.01034099	-2.07623023375518	0.00210	0.009245261	0.999999999999982	0.74766	0.615465	0.37627	0	0.552344	0.17405	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.29	-10.6	0.00212	-1.179000	0.03200	-4.564000	0.02093	-1.347000	0.01197	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1751:0.2593:0.3102:0.2554	1.430	0.02190	738	0.53389	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1285.98	34	chr6	155176873	.	G	A	1285.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.314;DP=865;ExcessHet=0.0000;FS=2.924;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.30;ReadPosRankSum=-8.500e-02;SOR=0.699	GT:AD:DP:GQ:PL	0/1:98,57:155:99:1300,0,2454	20	0	1	0
chr6	160122197	160122197	T	C	exonic	SLC22A1	.	nonsynonymous SNV	SLC22A1:NM_003057:exon1:c.T262C:p.C88R	.	.	414	1087	21	0	0	21	0.0095672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.92	H	-1.15	T	0.803	D	0.757	D	0.938	3.617	18.41	5.5	2.086	7.397	15.608	0.884	0.372545883564	0.0026	0.000599042	0.0022	0.0006	0.0006	0	0.0006	0.0034	0.0045	0.0011	0.0021345	330	154602	rs55918055	0.0027	0.0027	0.0027	0.0027	0.0056	0.0026	0.0026	0.0040	0.0035	0.0004	0.0009	0.0029	0	0.0009	0.0056	0.0031	0.0034	0.0013	0.0018	0.0018	0.0019	0.0018	0.0031	0.0016	0.0016	0.0028	0.0027	0.0003	0	0.0018	0.0014	0	0.0008	0.0102	0.0031	0.0019	0.0008	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.8	0.95404	H	-1.15	0.80730	T	-10.74	0.99367	D	0.921	0.92901	0.803	0.94454	D	0.757	0.91735	D	10	0.4071395	0.55971	T	0.372546	0.92781	D	0.884	0.96614	.	.	0.650362002609	0.64745	0.944871037429589	0.94469	0.81086799148	0.66720	0.79184615612	0.80724	T	0.72055	0.92099	D	0.140623	0.68384	D	0.426797	0.92954	D	0.20658478140831	0.20774	T	0.785321	0.42297	T	0.9801025	0.99118	0.9777043	0.99753	0.9801025	0.99118	0.9777043	0.99754	-8.773	0.66224	D	.	.	0.888	0.82022	P	.;.;.;.	.;.;.;.	4.285761	0.65326	24.8	0.99676539987292223	0.78977	0.99470	0.96426	D	AEFDBI	0.973551	0.99502	D	0.898960480952529	0.91708	11.02287	0.790086601173094	0.89097	9.836575	0.999999942161984	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.5	5.5	0.81386	7.376000	0.78918	7.635000	0.62917	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.480000	0.28565	0.0:0.0:0.0:1.0	15.608	0.76443	560	0.71333	.;.;.;.	.	.	.	.	.	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	2006.11	42	chr6	160122197	.	T	C	2006.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.170e-01;DP=916;ExcessHet=0.1072;FS=1.110;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=0.989;SOR=0.595	GT:AD:DP:GQ:PL	0/1:60,52:112:99:1274,0,1707	19	0	2	0
chr6	162443380	162443380	T	C	exonic	PRKN	.	nonsynonymous SNV	PRKN:NM_004562:exon2:c.A101G:p.Q34R	Adenocarcinoma of lung, somatic;Adenocarcinoma, ovarian, somatic;Parkinson disease, juvenile, type 2, Autosomal recessive	YES	3	1515	4	0	0	4	0.00131839	.	.	455534	not_provided|Autosomal_recessive_juvenile_Parkinson_disease_2|not_specified	MedGen:C3661900|MONDO:MONDO:0010820,MedGen:C1868675,OMIM:600116,Orphanet:2828|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.993	D	0.000	D	1.000	D	2.42	M	-0.88	T	0.130	D	0.528	D	0.578	4.351	22.9	5.63	2.263	2.718	16.131	0.595	.	0.0025	0.0081869	0.0034	0.0094	0.0009	0.0001	0	1.5e-05	0.0022	0.0184	0.0030853	477	154602	rs148851677	0.0014	0.0014	0.0010	0.0017	0.0166	0.0013	0.0013	0.0159	0.0156	0.0109	0.0007	0	0.0002	0	0.0009	2.88e-05	0.0022	0.0166	0.0033	0.0033	0.0031	0.0034	0.0162	0.0030	0.0029	0.0133	0.0122	0.0096	0	0.0007	0	0.0002	0	0	0	0.0033	0.0162	0.026	0.48642	D	0.066	0.44501	T	0.999	0.77913	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.973898	0.81001	D	.	.	.	-0.88	0.74689	T	-1.94	0.47514	N	0.364	0.44857	0.130	0.84715	D	0.528	0.82453	D	10	0.011427194	0.00250	T	.	.	.	0.595	0.83911	.	.	0.920662201329	0.91985	0.6744385748929309	0.67381	0.370885923186	0.38597	0.451648652554	0.32169	T	0.215053	0.57682	T	-0.283903	0.10259	T	-0.166957	0.57722	T	0.0140150988072815	0.00270	T	0.715328	0.32778	T	0.7590895	0.81399	0.66654766	0.80446	0.76944906	0.82016	0.6756957	0.80957	-5.883	0.82341	T	0.27883801795347196	0.37380	0.174	0.59865	B	.;.;.;.	.;.;.;.	3.756678	0.53882	23.4	0.99844308664107051	0.92403	0.80530	0.40143	D	AEFDGCIJ	0.509174	0.53875	D	0.66882249893939	0.77592	6.704351	0.64370477078755	0.78143	6.817274	0.999992889324479	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.577349	0.28860	0	0.620846	0.47308	0	.	.	5.63	5.63	0.86108	2.696000	0.46719	5.040000	0.46903	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.131	0.81247	979	0.04160	Ubiquitin domain|Ubiquitin domain|Ubiquitin domain;.;.;Ubiquitin domain|Ubiquitin domain|Ubiquitin domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1553.98	33	chr6	162443380	.	T	C	1553.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.352;DP=902;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.03;ReadPosRankSum=-7.690e-01;SOR=0.721	GT:AD:DP:GQ:PL	0/1:84,71:155:99:1568,0,1952	20	0	1	0
chr6	167305957	167305957	G	A	exonic	UNC93A	.	nonsynonymous SNV	UNC93A:NM_001143947:exon5:c.G757A:p.V253M	.	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.989	D	0.613	P	0.000	N	1.000	D	2.78	M	2.27	T	-0.253	T	0.421	T	0.529	3.021	16.08	2.94	0.437	2.433	9.268	0.216	.	0.0026	0.00738818	0.0044	0.0008	0.0250	0	0.0059	0.0027	0.0033	0.0010	0.0046701	722	154602	rs4708771	0.0041	0.0041	0.0044	0.0039	0.0281	0.0040	0.0040	0.0268	0.0263	0.0011	0.0281	0.0007	0	0.0068	0.0003	0.0036	0.0038	0.0010	0.0057	0.0057	0.0049	0.0065	0.0352	0.0053	0.0052	0.0327	0.0317	0.0008	0	0.0352	0.0012	0	0.0068	0	0.0030	0.0028	0.0012	0.019	0.50132	D	0.022	0.58089	D	0.98	0.59353	D	0.613	0.51171	P	0.000075	0.52346	N	0.128014	1	0.81001	D	2.695	0.78878	M	2.27	0.81399	T	-2.43	0.53736	N	0.306	0.41459	-0.2533	0.76270	T	0.421	0.76630	T	10	0.0067561865	0.00153	T	.	.	.	0.216	0.50959	.	.	0.710806825143	0.70827	0.5121865667800289	0.51140	0.380978579987	0.39459	0.471067488194	0.34828	T	0.082717	0.36891	T	-0.240619	0.15270	T	-0.0926473	0.63962	T	0.0400936542817348	0.03707	T	0.877812	0.64631	D	0.13384199	0.31117	0.23112215	0.48234	0.13384199	0.31117	0.23112215	0.48233	-10.411	0.77783	D	.	.	0.245	0.52426	B	.;.	.;.	4.042223	0.59857	24.1	0.99846314661029345	0.92576	0.75182	0.36800	D	AEFDBCI	0.377557	0.46128	N	0.274732847084776	0.54871	3.651798	0.18526895338651	0.49038	3.112034	0.998278402029995	0.36679	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.613276	0.41899	0	.	.	4.72	2.94	0.33188	2.613000	0.46015	5.218000	0.47990	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.847000	0.40026	0.2457:0.0:0.7543:0.0	9.268	0.36813	994	0.00715	Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2080.98	40	chr6	167305957	.	G	A	2080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.204;DP=904;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=-8.630e-01;SOR=0.652	GT:AD:DP:GQ:PL	0/1:68,81:149:99:2095,0,1669	20	0	1	0
chr6	167976259	167976342	CAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	-	exonic	HGC6.3	.	nonframeshift deletion	HGC6.3:NM_001129895:exon1:c.311_394del:p.V104_T131del,	.	.	452	926	15	0	129	144	0.00803428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0028	0.0077	0	0	0.0053	0	0.0037	.	.	.	.	0.0001	0.0003	0.0001	0.0001	0.0030	9.78e-05	9.099e-05	0.0017	0.0013	0.0002	0	0	0.0003	0.0002	0.0030	0.0001	0.0001	8.545e-05	0.0002	0.0008	0.0002	0.0003	0.0009	0.0002	0.0002	0.0003	0.0001	2.975e-05	0	0.0003	0.0010	0.0003	0.0003	0.0050	0.0003	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	903.78	88	chr6	167976258	.	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	G,*	903.78	.	AC=1,9;AF=0.024,0.214;AN=42;BaseQRankSum=0.795;DP=1112;ExcessHet=0.0097;FS=23.164;InbreedingCoeff=0.4872;MLEAC=1,9;MLEAF=0.024,0.214;MQ=52.39;MQRankSum=0.079;QD=2.73;ReadPosRankSum=0.126;SOR=1.256	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:3,0,29:32:71:.:.:2430,1244,1274,129,71,0	14	0	1	0
chr6	167976258	167976342	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	0	exonic	HGC6.3	.	.	.	.	.	452	926	15	0	129	144	0.00803428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	903.78	88	chr6	167976258	.	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	G,*	903.78	.	AC=1,9;AF=0.024,0.214;AN=42;BaseQRankSum=0.795;DP=1112;ExcessHet=0.0097;FS=23.164;InbreedingCoeff=0.4872;MLEAC=1,9;MLEAF=0.024,0.214;MQ=52.39;MQRankSum=0.079;QD=2.73;ReadPosRankSum=0.126;SOR=1.256	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:3,0,29:32:71:.:.:2430,1244,1274,129,71,0	14	0	1	0
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3195.59	88	chr6	167976273	.	A	*,C	3195.59	.	AC=10,6;AF=0.250,0.150;AN=40;BaseQRankSum=0.163;DP=1063;ExcessHet=1.8260;FS=13.368;InbreedingCoeff=0.0227;MLEAC=10,5;MLEAF=0.250,0.125;MQ=55.81;MQRankSum=-3.188e+00;QD=4.92;ReadPosRankSum=0.937;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,42,1:43:99:1|1:167976264_G_*:1753,129,0,1704,109,1723:167976264	7	3	4	1
chr6	167976329	167976329	T	0	exonic	HGC6.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	8324.06	88	chr6	167976329	.	T	G,*	8324.06	.	AC=9,1;AF=0.281,0.031;AN=32;BaseQRankSum=2.86;DP=1186;ExcessHet=0.0120;FS=13.202;InbreedingCoeff=0.2945;MLEAC=11,1;MLEAF=0.344,0.031;MQ=51.60;MQRankSum=0.844;QD=22.68;ReadPosRankSum=0.073;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,22,0:22:49:1|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:2265,165,0,1056,49,957:167976249	9	3	3	5
chr6	167976539	167976539	T	0	exonic	HGC6.3	.	.	.	.	.	606	741	134	1	40	176	0.0840544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	846.58	47	chr6	167976539	.	T	G,*	846.58	.	AC=4,2;AF=0.200,0.100;AN=20;BaseQRankSum=0.039;DP=1478;ExcessHet=0.0018;FS=1.846;InbreedingCoeff=0.2202;MLEAC=6,2;MLEAF=0.300,0.100;MQ=54.59;MQRankSum=-4.254e+00;QD=4.73;ReadPosRankSum=1.28;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:4,0,78:86:1:1|1:167976454_GTT_G:1552,1476,2033,1,236,0:167976454	6	1	2	11
chr6	167976540	167976540	T	0	exonic	HGC6.3	.	.	.	.	.	602	743	109	1	67	178	0.0695053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	759.27	105	chr6	167976540	.	T	*,A	759.27	.	AC=3,3;AF=0.150,0.150;AN=20;BaseQRankSum=0.168;DP=1478;ExcessHet=0.0018;FS=0.997;InbreedingCoeff=0.2202;MLEAC=3,5;MLEAF=0.150,0.250;MQ=54.68;MQRankSum=-2.539e+00;QD=2.18;ReadPosRankSum=-5.800e-01;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:4,78,0:86:1:1|1:167976454_GTT_G:1552,1,0,1476,236,2033:167976454	6	1	0	11
chr6	168309084	168309084	C	A	exonic	DACT2	.	nonsynonymous SNV	DACT2:NM_001286350:exon3:c.G163T:p.A55S	.	.	418	1098	6	0	0	6	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.275	B	0.044	B	0.359	N	1.000	N	-0.405	N	0.93	T	-1.022	T	0.017	T	0.09	1.141	9.649	-0.849	0.114	0.148	5.265	0.042	.	.	0.00439297	0.0098	0	0	0	0	0	0	0.0199	0.0009767	151	154602	rs369564273	0.0010	0.0010	0.0006	0.0015	0.0173	0.0010	0.0010	0.0166	0.0163	0	5.694e-05	4.046e-05	0	0	0.0004	1.864e-06	0.0008	0.0173	0.0006	0.0006	0.0003	0.0009	0.0176	0.0005	0.0004	0.0146	0.0135	4.809e-05	0	0	0	0	0	0	0	0	0.0176	0.268	0.16144	T	0.42	0.35840	T	0.275	0.31898	B	0.044	0.24394	B	0.358958	0.04292	N	1.459890	1	0.08975	N	1.1	0.28011	L	0.93	0.44065	T	-0.31	0.12099	N	0.062	0.04188	-1.0220	0.23063	T	0.017	0.07140	T	10	0.0034857988	0.00062	T	.	.	.	0.042	0.11227	0.218	0.13932	0.0297737177859	0.01360	0.13618126405041434	0.13542	.	.	0.290269672871	0.08962	T	0.047023	0.27599	T	-0.634523	0.00090	T	-0.670599	0.07570	T	0.0100813937875837	0.00135	T	0.639636	0.27564	T	0.04924017	0.08713	0.04954314	0.07593	0.04924017	0.08713	0.04954314	0.07592	-3.475	0.20223	T	.	.	0.093	0.19478	B	.;.	.;.	1.211430	0.16047	12.28	0.90269805502209099	0.19539	0.15185	0.18786	N	AEFDBI	.	.	.	-0.989779431575013	0.08822	0.4150978	-1.02391737954167	0.09260	0.459693	0.956372199199118	0.28243	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.59	-0.849	0.10181	0.179000	0.16653	-0.273000	0.10332	0.599000	0.40250	0.005000	0.17040	0.000000	0.08366	0.065000	0.16320	0.0:0.2978:0.4111:0.2911	5.265	0.14906	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2480.98	34	chr6	168309084	.	C	A	2480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.276e+00;DP=1099;ExcessHet=0.0000;FS=1.700;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.10;ReadPosRankSum=1.64;SOR=0.682	GT:AD:DP:GQ:PL	0/1:102,103:205:99:2495,0,2619	20	0	1	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|1:0,51,0:51:99:1|1:170561949_GCAA_G:1984,156,0,1985,157,1986:170561949	1	15	4	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|1:53,33,0,0:86:99:0|1:170561949_GCAA_G:956,0,1721,1152,1761,4168,1152,1761,4168,4168:170561949	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|2:37,0,53:90:99:1|0:170561949_GCAA_G:1600,1678,4337,0,1474,1076:170561949	1	1	3	2
chr7	290724	290724	A	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.A179G:p.D60G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.63e-05	0.0011	6.045e-05	3.178e-05	0.0001	3.646e-05	3.338e-05	4.892e-05	3.359e-05	0.0001	0	0	0	0	0	4.873e-05	7.462e-05	3.043e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69150114	0.71883	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.847515	0.52873	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.529	0.65890	A	.	.	3.722634	0.53211	23.3	0.87352862521545771	0.17166	0.97287	0.73806	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999893991610557	0.45129	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.824066	0.49261	4.4	4.4	0.52402	8.347000	0.89966	9.080000	0.78714	0.555000	0.28237	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	13.617	0.61584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	74.31	37	chr7	290724	.	A	G	74.31	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-1.580e+00;DP=650;ExcessHet=0.6776;FS=103.212;InbreedingCoeff=-0.1064;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=0.53;ReadPosRankSum=-8.760e-01;SOR=7.340	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,6:40:2:.:.:2,0,1133	16	0	4	1
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1537.51	38	chr7	290725	.	C	G	1537.51	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.014;DP=729;ExcessHet=15.6281;FS=215.903;InbreedingCoeff=-0.5582;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=3.11;ReadPosRankSum=0.300;SOR=10.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,11:40:99:.:.:159,0,584	5	0	14	2
chr7	2513251	2513251	-	GATG	exonic	LFNG	.	frameshift insertion	LFNG:NM_001166355:exon2:c.142_143insGATG:p.E56Gfs*2,	.	.	6	688	570	158	100	986	0.391689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	18008.05	36	chr7	2513247	.	AGATG	AGATGGATG,A	18008.05	.	AC=8,2;AF=0.190,0.048;AN=42;BaseQRankSum=1.07;DP=1568;ExcessHet=1.5138;FS=0.554;InbreedingCoeff=-0.0500;MLEAC=8,2;MLEAF=0.190,0.048;MQ=60.00;MQRankSum=0.00;QD=23.54;ReadPosRankSum=-8.200e-02;SOR=0.731	GT:AD:DP:GQ:PL	0/1:38,41,0:79:99:1587,0,1464,1703,1587,3290	12	0	7	0
chr7	2918553	2918553	G	C	exonic	CARD11	.	nonsynonymous SNV	CARD11:NM_032415:exon19:c.C2545G:p.L849V	B-cell expansion with NFKB and T-cell anergy, Autosomal dominant;Immunodeficiency 11, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.976	D	0.776	P	0.008	N	1.000	D	0.975	L	1.32	T	-1.070	T	0.099	T	0.305	2.087	12.94	2.98	1.021	0.636	8.569	0.048	0.0292663108982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.148e-07	6.84e-07	1.411e-06	0	9.268e-07	0	0	.	.	0	0	0	0	0	0	9.268e-07	0	0	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.025	0.47320	D	0.197	0.27855	T	0.976	0.58310	D	0.776	0.57120	P	0.007877	0.31148	N	0.222231	0.99982	0.49512	D	2.35	0.67516	M	1.32	0.35219	T	-1.18	0.30140	N	0.534	0.56231	-1.0701	0.09391	T	0.099	0.37034	T	10	0.58246607	0.65926	D	0.029266	0.51808	D	0.048	0.13305	0.315	0.29096	0.577696335319	0.57439	0.6533731887268218	0.65273	1.18416231744	0.80090	0.675966084003	0.63691	T	0.213112	0.57433	T	-0.146233	0.28905	T	-0.44783	0.27938	T	0.801709711551666	0.46469	D	0.889511	0.62170	D	0.0480404	0.08311	0.06332079	0.12527	0.0480404	0.08310	0.06332079	0.12527	-4.337	0.28692	T	0.5900971613216432	0.65689	0.205	0.43130	B	.	.	3.414694	0.47383	22.4	0.99431787219335543	0.64325	0.83083	0.42231	D	AEFDGBCI	0.325992	0.42741	N	0.0691197073087332	0.45027	2.766194	0.0225521317786779	0.40763	2.438048	0.543217370451919	0.21270	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.81	2.98	0.33575	0.676000	0.24927	2.455000	0.32829	0.618000	0.50648	0.944000	0.32806	0.997000	0.33255	0.587000	0.31065	0.1777:0.0:0.8223:0.0	8.569	0.32717	964	0.07719	.	.	.	.	.	.	Uncertain significance	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	599.98	33	chr7	2918553	.	G	C	599.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.358e+00;DP=730;ExcessHet=0.0000;FS=2.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-1.280e-01;SOR=0.998	GT:AD:DP:GQ:PL	0/1:23,24:47:99:614,0,637	20	0	1	0
chr7	4762342	4762342	G	A	exonic	FOXK1	.	nonsynonymous SNV	FOXK1:NM_001037165:exon9:c.G2080A:p.A694T,	.	.	430	1084	8	0	0	8	0.00367647	.	.	2828256	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.19	T	0.82	P	0.152	B	0.122	N	1.000	N	0.69	N	-3.56	D	-0.203	T	0.544	D	0.212	1.510	11.00	2.73	1.095	0.354	9.131	0.213	.	0.0052	0.00299521	0.0066	0.0004	0.0088	0	0.0234	0.0149	0.0102	0.0003	0.0027296	422	154602	rs15715	0.0057	0.0056	0.0059	0.0056	0.0058	0.0056	0.0056	0.0057	0.0057	0.0004	0.0057	0.0264	5.595e-05	0.0088	0.0057	0.0058	0.0063	0.0005	0.0050	0.0050	0.0053	0.0048	0.0061	0.0047	0.0046	0.0056	0.0054	0.0011	0.0471	0.0051	0.0311	0	0.0052	0.0102	0.0061	0.0080	0.0002	0.006	0.61437	D	0.571	0.08777	T	0.814	0.45487	P	0.084	0.29270	B	0.121788	0.18981	N	0.384537	0.999996	0.08975	N	1.39	0.34934	L	-3.83	0.95794	D	-0.8	0.22078	N	0.081	0.05670	-0.2027	0.77601	T	0.544	0.83242	D	10	0.0023437142	0.00034	T	.	.	.	0.213	0.50496	.	.	0.547203082319	0.54374	0.2781509896429978	0.27728	0.616976147991	0.56145	0.433331131935	0.29664	T	0.057402	0.30556	T	-0.279984	0.10668	T	-0.171089	0.57344	T	0.0104695570204428	0.00145	T	0.562944	0.19809	T	0.068087645	0.14802	0.08164795	0.18573	0.068087645	0.14802	0.08164795	0.18573	-4.007	0.23909	T	.	.	0.065	0.01810	B	.	.	1.766864	0.22469	15.63	0.98688797135490314	0.44723	0.32870	0.24690	N	AEFBCI	0.046293	0.07669	N	-0.605950491862245	0.18765	0.9768503	-0.704589039280848	0.16847	0.8930976	0.578024522946595	0.21547	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	3.61	2.73	0.31266	0.365000	0.20076	.	.	0.676000	0.76740	0.033000	0.20612	.	.	0.079000	0.17189	0.1056:0.0:0.8944:0.0	9.131	0.36005	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	649.98	31	chr7	4762342	.	G	A	649.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.230e-01;DP=673;ExcessHet=0.0000;FS=1.137;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.44;ReadPosRankSum=0.839;SOR=0.904	GT:AD:DP:GQ:PL	0/1:19,26:45:99:664,0,461	20	0	1	0
chr7	4790557	4790557	G	A	exonic	AP5Z1	.	nonsynonymous SNV	AP5Z1:NM_001364858:exon14:c.G1436A:p.G479D	Spastic paraplegia 48, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2308684	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	0.452	B	0.117	B	.	.	1.000	N	0.92	L	1.11	T	-1.057	T	0.063	T	0.07	1.767	11.87	1.18	0.313	2.414	6.584	0.034	0.0158213524919	.	.	8.373e-06	0	0	0	0	0	0	6.063e-05	6.5e-06	1	154602	rs758214725	6.846e-06	6.84e-06	6.811e-06	6.881e-06	0.0001	3.46e-06	2.52e-06	5.395e-05	4.042e-05	2.987e-05	0	0	0	0	0	0	0	0.0001	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	0.137	0.25979	T	0.294	0.20745	T	0.452	0.36118	B	0.117	0.32014	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	1.11	0.38883	T	-0.97	0.25770	N	0.233	0.26233	-1.0572	0.12465	T	0.063	0.26314	T	9	0.0763872	0.11926	T	0.015821	0.36761	T	0.034	0.08419	0.296	0.26041	0.0297737177859	0.01360	0.17497735284527335	0.17416	.	.	0.320216149092	0.13455	T	0.017577	0.14314	T	-0.413284	0.01890	T	-0.628776	0.10508	T	0.0315204394245566	0.02229	T	0.349965	0.07784	T	0.031169504	0.02909	0.05128787	0.08225	0.031169504	0.02908	0.05128787	0.08225	-1.14	0.01168	T	0.2168787414435399	0.29181	0.159	0.35077	B	.;.	.;.	1.736260	0.22098	15.48	0.76956450491917705	0.11677	0.40324	0.26411	N	AEFDGBCI	0.117928	0.23080	N	-0.629017394328834	0.18077	0.9355811	-0.634432223267902	0.18610	0.9949579	0.916309425528824	0.26509	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.53	1.18	0.20058	2.434000	0.44460	1.837000	0.29159	-0.170000	0.11276	0.762000	0.29265	0.006000	0.19429	0.002000	0.04165	0.6199:0.0:0.3801:0.0	6.584	0.21806	884	0.28482	.;.	.	.	.	.	.	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	1518.98	36	chr7	4790557	.	G	A	1518.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.492;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=0.864;SOR=0.657	GT:AD:DP:GQ:PL	0/1:58,59:117:99:1533,0,1509	20	0	1	0
chr7	5313028	5313028	-	GAGGAT	exonic	TNRC18	.	nonframeshift insertion	TNRC18:NM_001080495:exon27:c.7862_7863insATCCTC:p.S2671_T2672insSS,	.	.	447	380	383	306	6	1001	0.566952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0170	0.0195	0.0098	0.0052	0	0.0151	0.0270	0.0187	0.0104591	1617	154602	rs768319122	0.0012	0.0023	0.0011	0.0012	0.0020	0.0011	0.0011	0.0017	0.0016	0.0001	0.0008	4.831e-05	0	0.0001	0	0.0013	0.0010	0.0020	0.0010	0.0029	0.0012	0.0008	0.0017	0.0009	0.0008	0.0014	0.0013	0.0004	0	0.0007	0	0.0004	0	0	0.0017	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	16164.21	33	chr7	5313028	.	G	T,GGAGGAT	16164.21	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-6.260e-01;DP=860;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=27,1;MLEAF=0.643,0.024;MQ=59.83;MQRankSum=0.00;QD=19.78;ReadPosRankSum=0.311;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,49,0:50:99:.:.:1429,142,0,1431,145,1435	0	6	14	0
chr7	5313813	5313813	T	A	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon27:c.A7078T:p.T2360S,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	0.0	B	0.001	B	0.660	N	1.000	N	1.245	L	2.84	T	-0.951	T	0.096	T	0.093	-0.419	2.045	-4.72	-0.826	-0.486	12.746	0.042	0.00824867575367	.	0.000399361	0.0003	0	0	0	0	0	0.0014	0.0032	0.0002393	37	154602	rs556530143	0.0002	0.0003	0.0001	0.0004	0.0045	0.0002	0.0002	0.0041	0.0039	0	0	0	0	0	0	2.821e-06	7.152e-05	0.0045	0.0002	0.0002	9.004e-05	0.0002	0.0050	0.0001	9.247e-05	0.0034	0.0029	0	0	0	0	0	0	0	0	0	0.0050	0.314	0.18184	T	0.861	0.03399	T	0.0	0.02946	B	0.001	0.04355	B	0.659509	0.10440	N	0.775506	1	0.08975	N	0.66	0.16226	N	2.84	0.11082	T	0.09	0.05917	N	0.184	0.21969	-0.9507	0.40851	T	0.096	0.36133	T	10	0.0067671835	0.00154	T	0.008249	0.21853	T	0.042	0.11227	0.145	0.04843	0.043077524339	0.03247	0.035486482311257714	0.03495	0.712544141497	0.61773	0.36412191391	0.19984	T	0.00488	0.04301	T	-0.683428	0.00046	T	-0.755629	0.03272	T	0.0151114643122663	0.00328	T	0.60234	0.22547	T	0.032373775	0.03250	0.046084184	0.06345	0.032373775	0.03250	0.046084184	0.06345	-2.776	0.07964	T	.	.	0.080	0.07841	B	.;.	.;.	0.831834	0.12032	8.589	0.60693460943058097	0.06525	0.19765	0.20787	N	AEFBI	0.093879	0.18989	N	-0.717689560358113	0.15525	0.7831449	-0.87066158628571	0.12792	0.6600426	0.00109655051272427	0.08217	0.706548	0.73137	0	0.643519	0.57511	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.6	-4.72	0.03032	-0.311000	0.08164	-0.400000	0.09416	0.578000	0.29377	0.001000	0.13787	0.000000	0.08366	0.958000	0.51230	0.0:0.5832:0.0:0.4168	12.746	0.56654	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	1068.98	36	chr7	5313813	.	T	A	1068.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.960e-01;DP=805;ExcessHet=0.0000;FS=0.840;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=-5.750e-01;SOR=0.874	GT:AD:DP:GQ:PL	0/1:36,46:82:99:1083,0,852	20	0	1	0
chr7	5741289	5741289	C	T	exonic	RNF216	.	nonsynonymous SNV	RNF216:NM_207111:exon4:c.G728A:p.R243H	Cerebellar ataxia and hypogonadotropic hypogonadism, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1944287	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.001	B	0.002	B	0.224	N	1.000	N	0.69	N	0.84	T	-1.081	T	0.059	T	0.064	2.103	12.99	-5.74	-1.004	-0.678	6.510	0.029	0.00319462828901	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs747054051	1.095e-05	1.094e-05	8.168e-06	1.375e-05	2.519e-05	6.48e-06	5.24e-06	5.75e-06	4.55e-06	0	0	0	2.519e-05	0	0	1.079e-05	3.311e-05	1.159e-05	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	0.139	0.25768	T	0.237	0.30143	T	0.001	0.07471	B	0.002	0.06944	B	0.223717	0.16079	N	0.624103	1	0.08975	N	1.935	0.51832	L	0.8	0.48769	T	-0.49	0.15578	N	0.173	0.21319	-1.0806	0.07233	T	0.059	0.24686	T	10	0.04543084	0.03612	T	0.003195	0.06996	T	0.029	0.06676	0.345	0.33950	0.0716867268079	0.06686	0.10642694729243973	0.10572	0.0306775052014	0.03170	0.198697671294	0.00420	T	0.049977	0.28463	T	-0.31459	0.07350	T	-0.674177	0.07344	T	0.0189801678061485	0.00607	T	0.833317	0.50212	T	0.01542865	0.00139	0.023647599	0.00378	0.01542865	0.00138	0.023647599	0.00378	-4.567	0.33441	T	.	.	0.078	0.06942	B	.;.	.;.	1.054435	0.14356	10.93	0.95562246148690277	0.27241	0.01806	0.05631	N	AEFGBI	0.028777	0.02598	N	-1.22499831865427	0.04640	0.2098289	-1.23766146454962	0.05316	0.2530072	0.962203275273649	0.28606	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.97	-5.74	0.02197	-0.630000	0.05599	-3.461000	0.02769	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.2023:0.2721:0.0:0.5256	6.510	0.21414	732	0.54084	.;.	.	.	.	.	.	Uncertain significance	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	1648.98	37	chr7	5741289	.	C	T	1648.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=858;ExcessHet=0.0000;FS=3.705;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.27;ReadPosRankSum=0.396;SOR=1.121	GT:AD:DP:GQ:PL	0/1:53,55:108:99:1663,0,1410	20	0	1	0
chr7	7531484	7531484	C	T	exonic	COL28A1	.	nonsynonymous SNV	COL28A1:NM_001037763:exon3:c.G545A:p.G182E,	.	.	436	1073	13	0	0	13	0.00602131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.977	D	0.153	U	1.000	D	1.83	L	-0.07	T	-0.289	T	0.373	T	0.928	3.751	19.05	3.3	1.111	2.626	13.867	0.528	0.0296635243123	0.0007	0.000199681	0.0011	0.0002	0.0012	0	0	0.0013	0.0033	0.0020	0.0009961	154	154602	rs201967894	0.0007	0.0008	0.0007	0.0008	0.0108	0.0007	0.0007	0.0086	0.0079	0.0002	0.0010	0.0106	0	0	0.0108	0.0004	0.0018	0.0016	0.0008	0.0008	0.0008	0.0008	0.0010	0.0007	0.0007	0.0006	0.0005	0.0002	0	0.0007	0.0115	0	0	0.0034	0.0008	0.0043	0.0010	0.01	0.56456	D	0.01	0.65728	D	0.999	0.77913	D	0.977	0.73820	D	0.153103	0.17902	U	0.505872	0.999773	0.48980	D	2.24	0.63355	M	-0.07	0.63738	T	-5.44	0.85397	D	0.732	0.73285	-0.2889	0.75295	T	0.373	0.73167	T	10	0.023703396	0.00628	T	0.029664	0.52133	D	0.528	0.80067	.	.	0.463414561204	0.45969	0.605758391111315	0.60506	0.250625226812	0.27637	0.62706053257	0.56728	T	0.216551	0.57875	T	-0.0390297	0.46094	T	0.15793	0.80680	D	0.0471129754404522	0.04985	T	0.791621	0.43272	T	0.6055087	0.72987	0.69344234	0.81955	0.6055087	0.72988	0.69344234	0.81956	-9.08	0.68210	D	.	.	0.164	0.36134	B	.	.	3.902348	0.56852	23.8	0.99781899517084316	0.86867	0.94507	0.61389	D	AEFI	0.640899	0.61843	D	0.461203190935839	0.64842	4.748023	0.391503108828037	0.61040	4.298757	0.403910874983275	0.20154	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.2	3.3	0.36912	2.405000	0.44201	4.328000	0.43018	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.8455:0.1545:0.0	13.867	0.63095	793	0.45818	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2374.98	36	chr7	7531484	.	C	T	2374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.245e+00;DP=979;ExcessHet=0.0000;FS=5.689;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.57;ReadPosRankSum=0.174;SOR=0.395	GT:AD:DP:GQ:PL	0/1:73,90:163:99:2389,0,2021	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	1/2:2,13,10,0,0,0,0:25:99:761,279,435,443,0,479,788,420,515,912,788,420,515,912,912,788,420,515,912,912,912,788,420,515,912,912,912,912	1	3	5	0
chr7	8128116	8128116	G	A	exonic	ICA1	.	nonsynonymous SNV	ICA1:NM_001350838:exon11:c.C862T:p.P288S	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.001	B	0.005	B	0.662	N	1.000	N	0.895	L	.	.	-0.997	T	0.041	T	0.078	0.556	7.005	-2.27	-0.119	-0.057	0.997	0.043	0.00247359306953	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271340853	1.368e-06	1.368e-06	1.361e-06	1.375e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384	0.20683	T	0.712	0.05525	T	0.0	0.02946	B	0.005	0.11217	B	0.662364	0.10416	N	0.821953	1	0.08975	N	0.895	0.22405	L	.	.	.	-1.49	0.36385	N	0.079	0.05929	-0.9966	0.30865	T	0.041	0.17615	T	9	0.06334579	0.08239	T	0.002474	0.04896	T	0.043	0.11576	0.452	0.51448	0.325263233342	0.32141	0.11042531206472342	0.10971	0.134618601746	0.15165	0.232876420021	0.02188	T	0.17466	0.52396	T	-0.34103	0.05316	T	-0.630789	0.10354	T	0.00965733491726003	0.00126	T	0.624238	0.24084	T	0.018728772	0.00395	0.036549978	0.03125	0.018728772	0.00395	0.036549978	0.03125	-3.196	0.12530	T	.	.	0.062	0.04119	B	.;.;.;.;.;.	.;.;.;.;.;.	0.092654	0.04961	1.526	0.35593543528389832	0.02242	0.03335	0.08411	N	AEFBCI	0.029151	0.02701	N	-1.26889634863058	0.04055	0.1823322	-1.2824254205295	0.04667	0.2207141	0.999809646528566	0.43304	0.706548	0.73137	0	0.658105	0.61773	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.37	-2.27	0.06458	0.158000	0.16239	0.336000	0.17333	-0.202000	0.08738	0.001000	0.13787	0.000000	0.08366	0.046000	0.14843	0.3396:0.1251:0.3282:0.2071	0.997	0.01377	603	0.67726	Islet cell autoantigen Ica1, C-terminal|Islet cell autoantigen Ica1, C-terminal;Islet cell autoantigen Ica1, C-terminal|Islet cell autoantigen Ica1, C-terminal;.;Islet cell autoantigen Ica1, C-terminal|Islet cell autoantigen Ica1, C-terminal;Islet cell autoantigen Ica1, C-terminal|Islet cell autoantigen Ica1, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1513.98	33	chr7	8128116	.	G	A	1513.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.593e+00;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.28;ReadPosRankSum=0.355;SOR=0.674	GT:AD:DP:GQ:PL	0/1:34,59:93:99:1528,0,928	20	0	1	0
chr7	11831855	11831855	-	GCAGCG	exonic	THSD7A	.	nonframeshift insertion	THSD7A:NM_015204:exon1:c.91_92insCGCTGC:p.L34_L35insPL,	.	.	413	987	26	4	92	126	0.0169323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	5652.12	34	chr7	11831843	.	AGCAGCGGCAGCG	A,AGCAGCGGCAGCGGCAGCG	5652.12	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=0.293;DP=1040;ExcessHet=0.6776;FS=3.536;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=16.92;ReadPosRankSum=0.114;SOR=0.537	GT:AD:DP:GQ:PL	0/1:41,34,0:75:99:1307,0,1580,1431,1686,3116	17	0	3	0
chr7	21658835	21658835	A	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon30:c.A5132G:p.Q1711R,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	YES	4	1506	12	0	0	12	0.00396825	.	.	221686	not_specified|DNAH11-related_disorder|Primary_ciliary_dyskinesia|not_provided	MedGen:CN169374|.|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.647	N	1.000	N	.	.	0.26	T	-1.038	T	0.053	T	0.088	-1.504	0.017	2.36	0.520	0.633	8.451	0.072	0.00670184145786	0.0007	0.00119808	0.0012	0.0002	0.0028	0	0	0.0018	0.0025	0.0004	0.0005498	85	154602	rs189432084	0.0005	0.0005	0.0004	0.0005	0.0108	0.0004	0.0004	0.0086	0.0079	0.0006	0.0008	0.0007	0	0	0.0108	0.0004	0.0012	0.0004	0.0003	0.0003	0.0004	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	4.813e-05	0	0.0004	0.0006	0	0	0.0068	0.0005	0.0009	0.0002	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.647012	0.10547	N	0.856163	1	0.08975	N	.	.	.	0.26	0.59314	T	0.99	0.01428	N	0.206	0.24883	-1.0384	0.17802	T	0.053	0.22617	T	9	0.0073883235	0.00168	T	0.006702	0.17699	T	0.072	0.21020	.	.	0.353974658523	0.35008	0.18141748728031518	0.18060	.	.	0.309853613377	0.11885	T	0.068139	0.33380	T	-0.528527	0.00392	T	-0.625883	0.10728	T	0.00801070365834025	0.00095	T	0.692631	0.30204	T	0.09059655	0.21204	0.1836126	0.41361	0.09059655	0.21204	0.1836126	0.41360	-2.627	0.06711	T	0.06823185531518619	0.02462	0.062	0.01215	B	.;.;.	.;.;.	0.683830	0.10526	7.236	0.16663141205606449	0.00456	0.10226	0.15791	N	AEFI	0.069758	0.13821	N	-0.870129291932799	0.11557	0.5584072	-0.82717253243323	0.13837	0.7199826	2.3902980708693E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.92	2.36	0.28258	0.471000	0.21811	2.988000	0.35869	0.731000	0.85647	0.000000	0.06391	0.065000	0.22112	0.621000	0.31922	0.641:0.0:0.359:0.0	8.451	0.32030	706	0.57215	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	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	550.98	33	chr7	21658835	.	A	G	550.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.030e-01;DP=737;ExcessHet=0.0000;FS=1.214;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=1.13;SOR=1.075	GT:AD:DP:GQ:PL	0/1:32,24:56:99:565,0,826	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	0/1:94,68,0:162:99:.:.:1857,0,2408,2138,2612,4750	0	18	1	0
chr7	30753866	30753866	G	A	exonic	INMT	.	stopgain	INMT:NM_001199219:exon2:c.G287A:p.W96X	.	.	414	1103	4	1	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.026	N	1.000	A	.	.	.	.	.	.	.	.	.	3.113	16.40	3.69	2.043	7.297	13.316	.	.	.	.	2.472e-05	9.623e-05	0	0	0	2.998e-05	0	0	3.23e-05	5	154602	rs764793986	2.394e-05	2.394e-05	1.361e-05	3.438e-05	0.0002	1.738e-05	1.539e-05	1.998e-05	1.74e-05	0	2.236e-05	0	0	0	0.0002	2.788e-05	3.311e-05	0	3.283e-05	3.281e-05	3.854e-05	2.685e-05	6.535e-05	1.26e-05	7.97e-06	4.88e-06	1.83e-06	2.406e-05	0	6.535e-05	0	0	0	0.0034	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.026207	0.25958	N	0.264539	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.685	0.69213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481121	0.93742	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	9.364779	0.98828	41	0.99613182821204127	0.74932	0.96158	0.67799	D	AEFBI	0.379737	0.46264	N	0.698948791166025	0.79563	7.104218	0.492420027529447	0.67486	5.09057	0.999999999756771	0.74766	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	3.69	3.69	0.41483	7.724000	0.83759	8.181000	0.76777	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.675000	0.33396	0.0:0.0:1.0:0.0	13.316	0.59847	922	0.19044	.;.	.	.	.	.	.	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	1779.98	37	chr7	30753866	.	G	A	1779.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.530e-01;DP=864;ExcessHet=0.0000;FS=3.545;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.06;ReadPosRankSum=1.27;SOR=0.462	GT:AD:DP:GQ:PL	0/1:98,79:177:99:1794,0,2409	20	0	1	0
chr7	30853455	30853455	A	T	exonic	MINDY4	.	nonsynonymous SNV	MINDY4:NM_032222:exon12:c.A1673T:p.H558L,	.	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.024	B	0.021	B	0.355	N	0.785	N	1.265	L	1.62	T	-1.037	T	0.051	T	0.377	0.899	8.654	-2.22	-0.825	0.810	6.278	0.058	0.00459073892706	8e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376238682	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363	0.11807	T	0.136	0.34009	T	0.024	0.19075	B	0.021	0.19346	B	0.355355	0.13752	N	0.737805	0.784914	0.34313	D	.	.	.	1.62	0.28189	T	-4.12	0.75058	D	0.546	0.57263	-1.0367	0.18326	T	0.051	0.21611	T	10	0.16267309	0.30481	T	0.004591	0.11346	T	0.058	0.16647	.	.	0.0762999501168	0.06990	0.47952683717098554	0.47872	0.0530379128989	0.05844	0.252950429916	0.04084	T	0.022887	0.17567	T	-0.164235	0.26111	T	-0.473689	0.25119	T	0.116814106702805	0.14115	T	0.59504	0.22051	T	0.1546458	0.34992	0.15903544	0.37110	0.1546458	0.34991	0.15903544	0.37109	-8.296	0.63068	D	.	.	0.093	0.13923	B	.	.	1.794468	0.22813	15.77	0.79533482111722276	0.12785	0.18950	0.20468	N	AEFDGBI	0.071871	0.14323	N	-1.31044674145868	0.03555	0.1589966	-1.3141077869477	0.04247	0.1999188	0.999827704104084	0.43622	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.695668	0.68540	0	.	.	4.78	-2.22	0.06560	0.989000	0.29229	0.366000	0.17626	-0.583000	0.04693	0.956000	0.33378	0.000000	0.08366	0.915000	0.45038	0.5464:0.1293:0.3243:0.0	6.278	0.20202	869	0.31655	Domain of unknown function DUF4205|Domain of unknown function DUF4205	.	.	.	.	.	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	1562.98	33	chr7	30853455	.	A	T	1562.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.01;DP=825;ExcessHet=0.0000;FS=1.412;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=-3.120e-01;SOR=0.871	GT:AD:DP:GQ:PL	0/1:68,59:127:99:1577,0,1654	20	0	1	0
chr7	43879002	43879002	T	G	exonic	URGCP	.	nonsynonymous SNV	URGCP:NM_017920:exon5:c.A434C:p.E145A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.015	B	0.025	B	0.248	N	1.000	N	1.39	L	0.9	T	-1.003	T	0.078	T	0.254	0.174	4.935	2.97	0.330	1.121	7.834	0.033	0.00594253258686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.51248	T	0.708	0.33000	T	0.015	0.17086	B	0.025	0.20508	B	0.248425	0.15561	N	0.637601	1	0.08975	N	2.165	0.60562	M	0.9	0.45248	T	-0.89	0.39314	N	0.243	0.28381	-1.0029	0.29080	T	0.078	0.31224	T	10	0.054965615	0.05933	T	0.005943	0.15490	T	0.033	0.08068	0.278	0.23164	0.183819452728	0.17975	0.450066931358802	0.44924	0.749488687715	0.63696	0.415336340666	0.27194	T	0.06376	0.32258	T	-0.152948	0.27851	T	-0.457476	0.26875	T	0.0899571776390076	0.11213	T	0.869813	0.57621	D	0.0491841	0.08693	0.033913333	0.02367	0.0491841	0.08693	0.033913333	0.02366	-4.684	0.33210	T	.	.	0.158	0.34840	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.088837	0.26572	17.16	0.88969898570306249	0.18403	0.36213	0.25481	N	AEFDGBCIJ	0.091447	0.18523	N	-0.496319526475206	0.22201	1.183776	-0.379122858488884	0.25620	1.410067	0.999999985240686	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.616919	0.45865	0	.	.	5.44	2.97	0.33479	1.039000	0.29876	3.436000	0.38348	0.665000	0.62972	0.002000	0.15269	1.000000	0.68203	0.997000	0.79791	0.0:0.1863:0.0:0.8137	7.834	0.28521	769	0.49307	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	1668.98	38	chr7	43879002	.	T	G	1668.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.150e-01;DP=960;ExcessHet=0.0000;FS=0.641;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=0.944;SOR=0.585	GT:AD:DP:GQ:PL	0/1:68,66:134:99:1683,0,1846	20	0	1	0
chr7	44570813	44570813	C	T	exonic	DDX56	.	nonsynonymous SNV	DDX56:NM_019082:exon7:c.G955A:p.V319I,	.	.	434	1077	11	0	0	11	0.00508083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.001	B	0.003	B	0.022	N	1.000	D	0	N	-0.98	T	-1.012	T	0.149	T	0.186	1.644	11.46	3.42	0.766	0.967	4.131	0.064	0.0118273258257	0.0009	0.000599042	0.0012	0.0002	0.0006	0	0.0008	0.0013	0.0033	0.0025	0.0011319	175	154602	rs150431895	0.0013	0.0013	0.0012	0.0014	0.0042	0.0013	0.0013	0.0029	0.0024	0.0002	0.0008	3.827e-05	0	0.0005	0.0042	0.0014	0.0015	0.0023	0.0011	0.0011	0.0011	0.0012	0.0021	0.0010	0.0010	0.0016	0.0015	0.0003	0	0.0008	0.0003	0	0.0007	0.0068	0.0018	0.0028	0.0021	0.293	0.14843	T	0.447	0.13066	T	0.001	0.07471	B	0.003	0.08700	B	0.022465	0.26628	N	0.442265	1	0.81001	D	0.425	0.12573	N	-0.98	0.75789	T	-0.37	0.13226	N	0.214	0.23884	-1.0120	0.26291	T	0.149	0.47575	T	10	0.008664697	0.00196	T	0.011827	0.29841	T	0.064	0.18567	.	.	0.486779940545	0.48312	0.46082239846636947	0.46000	0.114167019288	0.12873	0.351416319609	0.18130	T	0.11823	0.43889	T	-0.422443	0.01650	T	-0.385134	0.35121	T	0.0098091396241014	0.00129	T	0.60234	0.22547	T	0.01351587	0.00061	0.020818803	0.00157	0.01351587	0.00061	0.020818803	0.00157	-5.063	0.37516	T	.	.	0.075	0.05317	B	.	.	2.304970	0.29499	18.14	0.93196650841988415	0.22863	0.65503	0.32759	D	AEFBCI	0.067357	0.13238	N	-0.466900810593887	0.23171	1.242427	-0.279856340593549	0.28763	1.606199	0.99690119972145	0.35104	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.23	3.42	0.38259	1.419000	0.34400	2.197000	0.31255	0.596000	0.33519	0.957000	0.33433	1.000000	0.68203	0.970000	0.54328	0.1846:0.6231:0.0:0.1923	4.131	0.09618	799	0.44747	Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, 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	2571.98	41	chr7	44570813	.	C	T	2571.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=956;ExcessHet=0.0000;FS=0.480;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=0.618;SOR=0.639	GT:AD:DP:GQ:PL	0/1:131,103:234:99:2586,0,3163	20	0	1	0
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.995	D	0.547	P	0.460	N	1.000	N	1.39	L	2.15	T	-1.059	T	0.048	T	0.465	2.843	15.47	1.54	0.218	0.068	6.370	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	5979.44	105	chr7	47829596	.	G	C,A	5979.44	.	AC=17,3;AF=0.425,0.075;AN=40;BaseQRankSum=-3.700e-02;DP=2719;ExcessHet=43.6797;FS=321.470;InbreedingCoeff=-0.9530;MLEAC=18,3;MLEAF=0.450,0.075;MQ=60.00;MQRankSum=0.00;QD=2.79;ReadPosRankSum=-7.300e-02;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,42,0:104:99:.:.:274,0,1000,442,1113,1556	0	0	17	1
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V,	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.002	B	.	.	1.000	N	.	.	.	.	-1.000	T	0.055	T	0.083	0.343	5.860	-8.46	-2.174	-2.702	2.202	0.011	0.00431561606013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.5	0.15782	N	0.11	0.09631	-0.9997	0.30002	T	0.055	0.23375	T	7	0.043260276	0.03157	T	0.004316	0.10467	T	0.011	0.01250	0.272	0.22210	0.117191471859	0.11215	.	.	.	.	.	.	.	0.054479	0.29735	T	-0.291109	0.09525	T	-0.655934	0.08543	T	0.052731511290539	0.05973	T	0.256674	0.04023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47294	B	.	.	-1.396602	0.00363	0.007	0.40883805656463257	0.02914	0.00305	0.01619	N	AEFGBIJ	0.028154	0.02430	N	-1.474115124829	0.02034	0.08940394	-1.65084572243601	0.01371	0.06194978	0.999999998577604	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	-8.46	0.00822	-2.694000	0.00900	-2.250000	0.03997	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.4857:0.2045:0.187:0.1228	2.202	0.03687	.	.	.	.	.	.	.	.	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	0.3438	2447.51	210	chr7	50368104	.	C	G	2447.51	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-4.605e+00;DP=3458;ExcessHet=7.7275;FS=209.069;InbreedingCoeff=-0.4848;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=1.31;ReadPosRankSum=1.84;SOR=13.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:141,25:179:99:.:.:130,0,4913	5	0	11	5
chr7	56068539	56068539	C	G	exonic	SUMF2	.	nonsynonymous SNV	SUMF2:NM_001042468:exon2:c.C125G:p.T42R	.	.	434	1078	9	1	0	11	0.00507614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.992	D	0.000	D	1.000	D	2.315	M	-3.5	D	1.009	D	0.901	D	0.724	4.667	25.7	5.01	2.489	7.046	17.245	0.839	.	.	0.00898562	0.0045	0	0.0004	0.0001	0	1.5e-05	0.0056	0.0325	0.0039586	612	154602	rs369882538	0.0021	0.0021	0.0011	0.0030	0.0331	0.0020	0.0020	0.0320	0.0316	5.977e-05	0	0	5.038e-05	0	0.0010	1.349e-05	0.0024	0.0331	0.0013	0.0013	0.0007	0.0018	0.0389	0.0011	0.0011	0.0343	0.0326	4.816e-05	0	6.56e-05	0	0.0002	0	0.0034	1.47e-05	0	0.0389	0.001	0.78490	D	0.002	0.83351	D	0.999	0.77913	D	0.972	0.72923	D	0.000000	0.84330	D	0.045618	1	0.81001	D	.	.	.	-3.5	0.94658	D	-5.01	0.83292	D	0.564	0.58883	1.009	0.97333	D	0.901	0.96711	D	10	0.009661853	0.00217	T	.	.	.	0.839	0.94952	.	.	0.97771676376	0.97747	.	.	0.295235085784	0.31929	0.444704711437	0.31220	T	0.767328	0.94254	D	-0.0310321	0.47268	T	0.206333	0.83473	D	0.0776474800912881	0.09684	T	0.973103	0.92475	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.51428	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.385714	0.67640	25.1	0.99549633890726708	0.71023	0.99446	0.96131	D	AEFBI	0.884092	0.81351	D	0.774866610479177	0.84511	8.308345	0.738418617030705	0.85290	8.536415	0.999999999999312	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	7.019000	0.76152	.	.	0.443000	0.21123	1.000000	0.71638	0.984000	0.30665	0.997000	0.79791	0.0:1.0:0.0:0.0	17.245	0.86911	619	0.66147	Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;.;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme	.	.	.	.	.	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	1118.98	94	chr7	56068539	.	C	G	1118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.920e-01;DP=1189;ExcessHet=0.0000;FS=1.598;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=1.64;SOR=0.608	GT:AD:DP:GQ:PL	0/1:54,47:101:99:1133,0,1359	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	0/1:89,11:100:43:43,0,2390	19	0	2	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	0/1:27,16:43:99:329,0,589	19	0	2	0
chr7	87393030	87393030	A	G	exonic	CROT	.	nonsynonymous SNV	CROT:NM_021151:exon17:c.A1681G:p.N561D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.025	B	0.04	B	0.000	D	1.000	N	-0.34	N	-2.14	D	-0.673	T	0.302	T	0.175	2.263	13.52	3.64	2.371	2.416	13.797	0.334	0.04460618358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343100259	1.369e-06	2.052e-06	0	2.751e-06	1.16e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.19927	T	0.774	0.04416	T	0.005	0.12996	B	0.013	0.16460	B	0.000027	0.55875	D	0.187020	0.526773	0.31524	N	-0.125	0.04555	N	-2.14	0.86415	D	-0.49	0.15578	N	0.293	0.33140	-0.6733	0.61679	T	0.302	0.67344	T	10	0.3511385	0.51970	T	0.044606	0.61572	D	0.334	0.65620	0.702	0.83869	0.530754069387	0.52724	0.6543527637213004	0.65371	0.0283290679928	0.02908	0.388054072857	0.23396	T	0.203427	0.56189	T	-0.1242	0.32438	T	-0.319327	0.42649	T	0.254090815782547	0.23055	T	0.819518	0.58780	T	0.21385334	0.43775	0.18869197	0.42175	0.21385334	0.43775	0.18869197	0.42174	-3.993	0.28720	T	.	.	0.073	0.08081	B	.;.;.	.;.;.	1.666565	0.21249	15.12	0.99118335938541058	0.52906	0.81354	0.40775	D	AEFBCI	0.591508	0.58758	D	-0.442482543954174	0.23996	1.292574	-0.178145552296756	0.32341	1.839057	0.999997704002192	0.74766	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	6.17	3.64	0.40864	2.441000	0.44522	0.649000	0.20393	0.756000	0.94297	0.965000	0.33920	0.000000	0.08366	0.955000	0.50612	0.7921:0.2079:0.0:0.0	13.797	0.62667	488	0.76887	.;Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase 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	0.02381	1534.98	40	chr7	87393030	.	A	G	1534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.99;DP=945;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-1.270e-01;SOR=0.697	GT:AD:DP:GQ:PL	0/1:76,60:136:99:1549,0,1957	20	0	1	0
chr7	90385066	90385066	T	A	exonic	GTPBP10	.	stopgain	GTPBP10:NM_001042717:exon8:c.T839A:p.L280X	.	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	N	1.000	D	.	.	.	.	.	.	.	.	.	3.837	19.49	5.52	2.090	6.359	14.206	.	.	0.0002	0.000199681	0.0003	0	0	0	0	0.0003	0.0011	0.0009	0.0002329	36	154602	rs201866556	0.0002	0.0002	0.0002	0.0003	0.0035	0.0002	0.0002	0.0023	0.0019	5.976e-05	8.944e-05	0.0023	0	0	0.0035	0.0001	0.0003	0.0012	0.0002	0.0002	0.0002	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	2.405e-05	0	6.538e-05	0.0014	0	0	0	0.0001	0.0005	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	0.175278	0.17256	N	0.530960	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.144	0.19325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.85015	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	8.206169	0.97295	37	0.98877404945850877	0.47754	0.99402	0.95569	D	AEFBI	0.110124	0.21849	N	1.00262465862252	0.95825	14.004	0.829107118631682	0.91739	11.04224	0.999999999611365	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635259	0.50027	0	.	.	5.52	5.52	0.82153	6.396000	0.73161	7.817000	0.69620	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.496000	0.28927	0.0:0.0:0.0:1.0	14.206	0.65274	674	0.60593	.;.	.	.	.	.	.	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	1382.98	35	chr7	90385066	.	T	A	1382.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.52;DP=816;ExcessHet=0.0000;FS=0.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=-1.204e+00;SOR=0.813	GT:AD:DP:GQ:PL	0/1:49,50:99:99:1397,0,1210	20	0	1	0
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	0/1:165,25:201:99:.:.:114,0,6145	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	0/1:165,36:201:99:.:.:213,0,6129	2	0	19	0
chr7	93996297	93996297	C	G	exonic	BET1	.	nonsynonymous SNV	BET1:NM_001317739:exon3:c.G169C:p.V57L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.254	B	0.323	B	0.000	D	1.000	D	2.2	M	.	.	-0.539	T	0.336	T	0.848	3.986	20.4	4.74	2.629	4.848	17.024	0.134	0.0280556482367	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226283124	1.121e-05	1.505e-05	8.372e-06	1.407e-05	1.465e-05	6.64e-06	5.37e-06	8.67e-06	7.02e-06	0	0	0	0	0	0	1.465e-05	0	0	6.595e-06	6.574e-06	1.289e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	0.068	0.91255	T	0.076	0.92824	T	0.254	0.31272	B	0.323	0.41825	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.12	0.58754	M	.	.	.	-2.32	0.54382	N	0.596	0.67391	-0.5390	0.67201	T	0.336	0.70273	T	9	0.39718962	0.55310	T	0.028056	0.50789	D	0.197	0.47942	0.642	0.77903	0.345175991111	0.34120	0.4947836147715056	0.49399	0.203680317947	0.22786	0.664033174515	0.61986	T	0.21914	0.66025	T	0.345049	0.86175	D	0.257863	0.85992	D	0.758107244968414	0.43743	D	0.952005	0.88094	D	0.4227829	0.62276	0.33796772	0.59580	0.4227829	0.62277	0.33796772	0.59579	-6.28	0.48563	T	.	.	0.866	0.84405	P	.;.;.	.;.;.	4.146416	0.62163	24.4	0.99711438997443591	0.81353	0.97968	0.78509	D	AEFBI	0.677347	0.64208	D	0.25259867354802	0.53766	3.544266	0.340834713044124	0.57958	3.963703	0.999996830958607	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.74	4.74	0.59717	4.689000	0.61410	4.459000	0.43452	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.024	0.86315	635	0.64580	Target SNARE coiled-coil homology domain|Target SNARE coiled-coil homology domain|BET1, SNARE domain;.;Target SNARE coiled-coil homology domain|BET1, SNARE domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1905	359.48	99	chr7	93996297	.	C	G	359.48	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-3.848e+00;DP=2300;ExcessHet=3.5521;FS=355.066;InbreedingCoeff=-0.2345;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=0.909;SOR=13.026	GT:AD:DP:GQ:PL	0/1:71,30:108:35:35,0,1338	13	0	8	0
chr7	95485972	95485972	A	T	exonic	ASB4	.	startloss	ASB4:NM_016116:exon1:c.A1T:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.007	B	0.004	B	0.002	N	1.000	D	.	.	1.18	T	-1.021	T	0.095	T	0.849	2.718	15.05	5.2	2.324	4.780	11.537	0.221	0.0598344819146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.007	0.14184	B	0.002	0.06944	B	0.002314	0.36806	N	0.308175	1	0.81001	D	.	.	.	0.94	0.43672	T	-0.7	0.19933	N	0.851	0.84713	-1.0213	0.23292	T	0.095	0.35871	T	9	0.7528086	0.75762	D	0.059834	0.67798	D	0.221	0.51721	0.541	0.65304	0.650744641505	0.64784	0.39437781819056156	0.39352	.	.	.	.	.	0.03936	0.25161	T	0.151169	0.69376	D	-0.0206324	0.68986	D	0.99273282289505	0.83293	D	0.9	0.65058	D	0.8839897	0.89998	0.72266406	0.83622	0.8839897	0.90000	0.72266406	0.83623	-7.567	0.58080	D	.	.	.	.	.	.;.	.;.	2.708077	0.35391	19.89	0.9554254010908737	0.27192	0.94659	0.61892	D	AEFGBI	0.028094	0.02413	N	0.0368478623234747	0.43539	2.644811	0.192625001043398	0.49440	3.147345	0.999999867109585	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.677812	0.66336	0	.	.	5.2	5.2	0.71720	5.065000	0.64175	10.951000	0.84400	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.8506:0.1494:0.0:0.0	11.537	0.49896	860	0.33753	.;.	.	.	.	.	.	Uncertain significance	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	803.98	33	chr7	95485972	.	A	T	803.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.827e+00;DP=760;ExcessHet=0.0000;FS=1.373;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.46;ReadPosRankSum=1.23;SOR=0.412	GT:AD:DP:GQ:PL	0/1:25,27:52:99:818,0,795	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|1:63,24:87:99:0|1:100175805_G_C:240,0,1848:100175805	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	0|2:67,0,45:112:99:0|1:100773849_CCAT_C:1680,1882,4679,0,2797,2662:100773849	0	1	0	0
chr7	100773854	100773854	G	0	exonic	ZAN	.	.	.	.	.	428	134	463	356	141	1316	0.814276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	68137.53	98	chr7	100773854	.	G	GTT,*	68137.53	.	AC=31,6;AF=0.738,0.143;AN=42;BaseQRankSum=0.460;DP=2329;ExcessHet=1.1607;FS=0.793;InbreedingCoeff=-0.1351;MLEAC=31,6;MLEAF=0.738,0.143;MQ=60.00;MQRankSum=0.00;QD=29.50;ReadPosRankSum=0.812;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,45,0:111:99:0|1:100773849_CCAT_C:1683,0,2630,1881,2765,4647:100773849	0	11	5	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	358.48	781	chr7	100952945	.	C	*,A	358.48	.	AC=19,2;AF=0.452,0.048;AN=42;BaseQRankSum=1.12;DP=13562;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=19,2;MLEAF=0.452,0.048;MQ=58.45;MQRankSum=-8.589e+00;QD=0.03;ReadPosRankSum=1.76;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:627,185,77:889:99:0|1:100952942_T_G:5881,0,25771,4535,23094,30631:100952942	0	0	19	0
chr7	100953028	100953028	-	GTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC	exonic	MUC3A	.	frameshift insertion	MUC3A:NM_005960:exon2:c.1249_1250insGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC:p.A417Gfs*177,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	36435.43	913	chr7	100953028	.	G	A,GGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC	36435.43	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-2.516e+00;DP=15155;ExcessHet=17.4423;FS=4.148;InbreedingCoeff=-0.5556;MLEAC=14,1;MLEAF=0.333,0.024;MQ=57.92;MQRankSum=-3.081e+00;QD=3.07;ReadPosRankSum=3.23;SOR=1.199	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:934,111,0:1045:99:0|1:100953014_G_A:1849,0,38884,4661,39219,43879:100953014	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|2:453,65,115:633:99:0|1:100953098_G_C:3465,2099,20925,0,16292,18675:100953098	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	0/1:452,106,44:622:99:3090,0,18660,2603,17132,21450	1	0	18	0
chr7	100953225	100953225	G	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	2681.5	334	chr7	100953225	.	G	A,*	2681.5	.	AC=9,3;AF=0.265,0.088;AN=34;BaseQRankSum=4.49;DP=8651;ExcessHet=9.6308;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=10,3;MLEAF=0.294,0.088;MQ=58.08;MQRankSum=-1.903e+01;QD=0.52;ReadPosRankSum=-5.501e+00;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:405,35,0:440:99:.:.:193,0,16611,1430,16497,18342	5	0	9	4
chr7	100953371	100953371	C	0	exonic	MUC3A	.	.	.	.	.	991	251	197	25	58	305	0.329773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	122869.23	574	chr7	100953371	.	C	A,*	122869.23	.	AC=20,2;AF=0.476,0.048;AN=42;BaseQRankSum=-2.807e+00;DP=13314;ExcessHet=43.6797;FS=5.958;InbreedingCoeff=-0.9091;MLEAC=20,2;MLEAF=0.476,0.048;MQ=57.56;MQRankSum=-1.348e+01;QD=10.82;ReadPosRankSum=0.229;SOR=1.110	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:439,190,0:704:99:.:.:6657,0,17862,7978,18434,26412	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|2:842,122,137:1101:99:0|1:100953486_C_A:3215,638,35528,0,30137,34860:100953486	2	0	17	0
chr7	100953494	100953494	C	0	exonic	MUC3A	.	.	.	.	.	798	546	139	16	23	194	0.135392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	16936.68	834	chr7	100953494	.	C	A,*	16936.68	.	AC=10,4;AF=0.238,0.095;AN=42;BaseQRankSum=-9.240e-01;DP=18602;ExcessHet=14.4320;FS=0.762;InbreedingCoeff=-0.5000;MLEAC=10,4;MLEAF=0.238,0.095;MQ=57.31;MQRankSum=-8.273e+00;QD=1.27;ReadPosRankSum=-1.446e+00;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:883,78,137:1098:99:.:.:3030,2499,39026,0,33623,37451	7	0	10	0
chr7	100953545	100953545	-	CATTGTAGCAACGACAGGCACAGTTAAGACCACCGTCACCAGCTCCACAGCCACATTCCGGGAGACCACCA	exonic	MUC3A	.	frameshift insertion	MUC3A:NM_005960:exon2:c.1766_1767insCATTGTAGCAACGACAGGCACAGTTAAGACCACCGTCACCAGCTCCACAGCCACATTCCGGGAGACCACCA:p.T590Ifs*64,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5924.07	892	chr7	100953545	.	C	CCATTGTAGCAACGACAGGCACAGTTAAGACCACCGTCACCAGCTCCACAGCCACATTCCGGGAGACCACCA	5924.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.280e+00;DP=19290;ExcessHet=0.1072;FS=4.031;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=56.16;MQRankSum=-6.510e-01;QD=2.85;ReadPosRankSum=-4.457e+00;SOR=1.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1022,157:1179:99:0|1:100953515_C_T:3516,0,42441:100953515	19	0	2	0
chr7	100953548	100953548	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1769T:p.T590I,	.	.	874	413	160	24	51	259	0.201161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357514460	0.0006	0.0062	0.0004	0.0007	0.0021	0.0005	0.0005	0.0013	0.0010	0.0003	0.0006	0.0002	4.417e-05	0.0005	0.0006	0.0006	0.0004	0.0021	2.746e-05	0.0091	1.343e-05	4.212e-05	0.0004	8.42e-06	5.33e-06	7.232e-05	3.008e-05	0	0	6.811e-05	0	0.0004	9.921e-05	0	0	0	0	.	.	.	0.033	0.53072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	0.117088854	0.22104	T	.	.	.	.	.	.	.	.	.	0.03503252016017476	0.03450	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347765	0.07665	T	.	.	.	.	.	.	.	.	-7.218	0.55610	T	.	.	0.207	0.43352	B	.;.	.;.	1.622838	0.20726	14.88	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.220000	0.32095	0.001000	0.13291	0.470000	0.21925	0.001000	0.13787	0.000000	0.08366	0.044000	0.14658	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4286	33287.25	909	chr7	100953548	.	C	G,T	33287.25	.	AC=15,3;AF=0.357,0.071;AN=42;BaseQRankSum=1.28;DP=19526;ExcessHet=30.0624;FS=0.819;InbreedingCoeff=-0.7477;MLEAC=15,3;MLEAF=0.357,0.071;MQ=55.79;MQRankSum=-8.386e+00;QD=1.94;ReadPosRankSum=3.82;SOR=0.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:996,95,0:1091:99:.:.:991,0,41536,3989,41822,45811	3	0	15	0
chr7	100953550	100953550	-	ACTTCTACAACTGACATCTCCACAGAATCTCTCATGA	exonic	MUC3A	.	stopgain	MUC3A:NM_005960:exon2:c.1771_1772insACTTCTACAACTGACATCTCCACAGAATCTCTCATGA:p.A591Dfs*5,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	816.07	879	chr7	100953550	.	G	GACTTCTACAACTGACATCTCCACAGAATCTCTCATGA	816.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.594e+00;DP=19057;ExcessHet=0.1072;FS=7.780;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=56.09;MQRankSum=1.03;QD=0.42;ReadPosRankSum=-9.430e-01;SOR=1.916	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1008,78:1086:99:0|1:100953515_C_T:241,0,42091:100953515	19	0	2	0
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|1:803,67,0:870:99:0|1:100955895_T_A:396,0,33516,2813,33718,36531:100955895	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|1:812,86,0:898:99:0|1:100955895_T_A:1167,0,33837,3611,34096,37707:100955895	4	0	15	0
chr7	100956031	100956031	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A4252G:p.S1418G,	.	.	791	727	4	0	0	4	0.00274348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1194663862	1.898e-05	0.0003	1.973e-05	1.828e-05	0.0001	7.82e-06	5.48e-06	4.06e-06	2.13e-06	0.0001	0	9.628e-05	0	0	0	1.525e-05	0	7.585e-05	9.487e-05	0.0099	8.586e-05	0.0001	0.0002	5.583e-05	4.367e-05	0.0001	9.396e-05	0.0002	0	7.182e-05	0	0	0.0002	0	1.642e-05	0	0	.	.	.	0.232	0.24987	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.02088	.	.	.	.	.	.	.	0.085339725	0.14398	T	.	.	.	.	.	.	.	.	.	0.01366575490483623	0.01324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230377	0.03527	T	.	.	.	.	.	.	.	.	-9.094	0.68299	D	.	.	0.142	0.31330	B	.;.	.;.	0.746498	0.11161	7.800	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.081000	0.11285	-2.631000	0.03528	0.688000	0.82842	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	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	0.025	677.33	463	chr7	100956031	.	A	G	677.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=4.14;DP=11621;ExcessHet=0.0000;FS=11.490;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=59.55;MQRankSum=-6.467e+00;QD=0.83;ReadPosRankSum=-5.558e+00;SOR=2.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:747,70:817:99:0|1:100956008_C_G:691,0,31033:100956008	19	0	1	1
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|1:404,160,103:667:99:0|1:100960582_T_A:6789,0,16165,1634,13615,17838:100960582	0	0	15	0
chr7	102934282	102934282	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G369C:p.E123D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.005	N	1.000	D	-0.515	N	0.26	T	-0.990	T	0.059	T	0.045	-0.292	2.603	3.61	1.478	0.025	7.418	0.102	0.00550950631605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.541	0.10678	T	0.0	0.02946	B	0.002	0.06944	B	0.004721	0.33446	N	0.207615	1	0.81001	D	-0.18	0.04256	N	0.26	0.59314	T	2.97	0.00304	N	0.088	0.06587	-0.9900	0.32601	T	0.059	0.24871	T	10	0.0402624	0.02580	T	0.00551	0.14197	T	0.102	0.29158	0.593	0.72247	0.630674063255	0.62765	0.32803734693529624	0.32716	0.23164822142	0.25718	0.39575278759	0.24477	T	0.001762	0.01186	T	-0.263963	0.12439	T	-0.616941	0.11426	T	0.0953304618597031	0.11836	T	0.758424	0.38228	T	0.07261241	0.16165	0.063943654	0.12744	0.07261241	0.16165	0.063943654	0.12743	-1.533	0.03110	T	.	.	0.084	0.33156	B	.;.	.;.	1.403225	0.18178	13.59	0.79853046318071419	0.12930	0.67709	0.33531	D	AEFDBIJ	0.199371	0.32618	N	-0.6476857485773	0.17528	0.9027043	-0.402716744649766	0.24916	1.367225	0.999999761740133	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	3.61	0.40494	0.038000	0.13749	0.020000	0.13575	0.676000	0.76740	0.830000	0.30133	0.455000	0.24973	0.993000	0.69303	0.1452:0.1381:0.7166:0.0	7.418	0.26231	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	0.1429	849.76	35	chr7	102934282	.	G	C	849.76	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-5.273e+00;DP=2518;ExcessHet=1.7912;FS=177.018;InbreedingCoeff=-0.1745;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.346;SOR=11.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,30:168:99:0|1:102934282_G_C:156,0,4533:102934282	15	0	6	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|1:138,30:168:99:0|1:102934282_G_C:156,0,4533:102934282	10	0	10	1
chr7	102934571	102934571	T	A	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.T658A:p.L220M	.	.	430	1060	30	2	0	34	0.0157846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.343	B	0.189	B	0.627	N	1.000	N	0.69	N	0.09	T	-0.987	T	0.091	T	0.295	2.055	12.83	-8.74	-1.287	-1.047	14.132	0.073	0.0205330549804	0.0046	0.00139776	0.0047	0.0021	0.0042	0	0.0044	0.0063	0.0089	0.0023	0.0044178	683	154602	rs36040681	0.0040	0.0040	0.0039	0.0041	0.0210	0.0039	0.0039	0.0179	0.0168	0.0019	0.0050	0.0265	0	0.0031	0.0210	0.0036	0.0071	0.0021	0.0043	0.0043	0.0043	0.0043	0.0049	0.0040	0.0039	0.0040	0.0038	0.0023	0.0022	0.0049	0.0317	0.0002	0.0036	0.0102	0.0043	0.0080	0.0027	0.032	0.46129	D	0.05	0.48080	T	0.257	0.33512	B	0.143	0.36295	B	0.627179	0.10722	N	0.753644	1	0.08975	N	1.79	0.46772	L	0.09	0.63911	T	-0.31	0.12099	N	0.291	0.32921	-0.9874	0.33249	T	0.091	0.34847	T	10	0.0042235553	0.00084	T	0.020533	0.43144	T	0.073	0.21317	.	.	0.353974658523	0.35008	0.2819359309231691	0.28106	0.331437822524	0.35218	0.276401311159	0.06996	T	0.033263	0.22839	T	-0.46394	0.00929	T	-0.429799	0.29957	T	0.0145937820321721	0.00300	T	0.613939	0.24114	T	0.089716	0.20969	0.06520197	0.13181	0.089716	0.20969	0.06520197	0.13181	-4.612	0.32322	T	.	.	0.074	0.08129	B	.;.	.;.	0.376272	0.07484	4.124	0.95126299566557715	0.26230	0.04616	0.10276	N	AEFDBI	0.164558	0.29096	N	-1.24876555415695	0.04316	0.1945527	-1.3501848080759	0.03804	0.1781696	0.999999995568789	0.74766	0.643511	0.44296	0	0.59043	0.45803	0	0.640751	0.46059	0	0.631631	0.49550	0	.	.	5.28	-8.74	0.00725	-1.001000	0.03800	-4.773000	0.01992	-1.457000	0.01087	0.000000	0.06391	0.000000	0.08366	0.932000	0.46971	0.0:0.6661:0.167:0.1669	14.132	0.64796	455	0.79073	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3653.11	41	chr7	102934571	.	T	A	3653.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.516;DP=1042;ExcessHet=0.1072;FS=4.591;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.216;SOR=0.600	GT:AD:DP:GQ:PL	0/1:58,80:138:99:2080,0,1432	19	0	2	0
chr7	116699194	116699194	T	C	exonic	MET	.	nonsynonymous SNV	MET:NM_000245:exon2:c.T110C:p.V37A	Hepatocellular carcinoma, childhood type, somatic;Renal cell carcinoma, papillary, 1, familial and somatic	.	0	1516	5	1	0	7	0.00230339	.	.	50049	not_specified|Renal_cell_carcinoma|Hereditary_cancer|Hereditary_cancer-predisposing_syndrome|Papillary_renal_cell_carcinoma_type_1|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0005584,Human_Phenotype_Ontology:HP:0006720,MONDO:MONDO:0005086,MeSH:D002292,MedGen:C0007134,Orphanet:217071|MedGen:C1333600|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human_Phenotype_Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.267	B	0.108	B	0.000	D	1.000	D	2.2	M	2.64	T	-0.445	T	0.353	T	0.333	1.400	10.62	5.9	2.264	5.528	12.801	0.142	0.0291073682577	8.2e-05	0.00119808	0.0011	0	0	0	0	0.0001	0.0011	0.0076	0.0009314	144	154602	rs201315884	0.0006	0.0006	0.0004	0.0008	0.0070	0.0005	0.0005	0.0065	0.0063	2.988e-05	4.475e-05	0.0013	0	0	0.0016	0.0001	0.0008	0.0070	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0002	0.0036	0.0031	2.406e-05	0	6.541e-05	0.0009	0	0	0	0.0001	0	0.0052	0.032	0.44694	D	0.078	0.46862	T	0.113	0.26349	B	0.031	0.31289	B	0.000007	0.62929	D	0.062168	0.503033	0.31757	D	1.79	0.46772	L	2.64	0.73311	T	-0.72	0.35792	N	0.276	0.33469	-0.4450	0.70565	T	0.353	0.71619	T	10	0.005613953	0.00124	T	0.029107	0.51676	D	0.142	0.37995	.	.	0.35158688536	0.34763	0.4757574709307922	0.47494	0.399774121659	0.40994	0.340591311455	0.16527	T	0.379824	0.74249	T	-0.333396	0.05858	T	-0.247812	0.50034	T	0.0470295077618543	0.04971	T	0.573243	0.20505	T	0.090709254	0.21233	0.098195896	0.23403	0.083677694	0.19332	0.1066093	0.25650	-5.846	0.44973	T	0.32103672873341865	0.41917	0.263	0.49778	B	.;.;.;.	.;.;.;.	3.411769	0.47334	22.4	0.98606696957422291	0.43585	0.96974	0.71966	D	AEFDGBHCI	0.583254	0.58255	D	0.122565792576668	0.47518	2.976309	0.244613026578497	0.52343	3.409818	0.999999999992328	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.675528	0.61593	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	5.573000	0.67117	6.203000	0.54917	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.838000	0.39538	0.0:0.0:0.1363:0.8637	12.801	0.56967	636	0.64483	Sema domain;Sema domain;Sema domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1711.98	49	chr7	116699194	.	T	C	1711.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.453;DP=859;ExcessHet=0.0000;FS=2.928;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.84;ReadPosRankSum=-7.880e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/1:88,70:158:99:1726,0,2304	20	0	1	0
chr7	120989862	120989862	A	G	exonic	CPED1	.	nonsynonymous SNV	CPED1:NM_001105533:exon1:c.A241G:p.T81A	.	.	429	1077	16	0	0	16	0.00737327	.	.	2823134	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.15	T	0.043	B	0.036	B	0.475	N	0.984	N	0.895	L	0.89	T	-1.020	T	0.069	T	0.182	1.731	11.75	1.83	0.073	0.513	4.887	0.013	0.0171850538084	0.0012	0.00119808	0.0011	0.0004	0.0015	0	0	0.0017	0	0.0001	0.0010737	166	154602	rs117047013	0.0009	0.0009	0.0009	0.0009	0.0118	0.0009	0.0009	0.0095	0.0087	0.0004	0.0014	0.0085	0	3.745e-05	0.0118	0.0007	0.0020	0.0003	0.0009	0.0009	0.0009	0.0010	0.0009	0.0008	0.0007	0.0006	0.0005	0.0003	0.0330	0.0009	0.0078	0	0	0.0034	0.0007	0.0019	0	0.147	0.25873	T	0.38	0.18395	T	0.043	0.21573	B	0.016	0.22909	B	0.474934	0.12233	N	0.766312	0.999999	0.08975	N	0.695	0.17993	N	0.89	0.45636	T	-0.34	0.32791	N	0.075	0.27673	-1.0198	0.23780	T	0.069	0.28313	T	10	0.0035578012	0.00064	T	0.017185	0.38787	T	0.013	0.01715	.	.	0.0806252709748	0.07271	0.26325970906816837	0.26238	0.0539382263776	0.05956	0.296295523643	0.09851	T	0.005363	0.18566	T	-0.536458	0.00352	T	-0.588913	0.13760	T	0.0174877103418112	0.00484	T	0.624837	0.25234	T	0.03746055	0.04805	0.047467627	0.06844	0.03746055	0.04805	0.047467627	0.06843	-3.166	0.12250	T	.	.	0.084	0.21578	B	.;.;.;.	.;.;.;.	1.377913	0.17892	13.43	0.97894917248348667	0.36697	0.05079	0.10874	N	AEFDBHCI	0.118069	0.23102	N	-0.5970978038191	0.19033	0.9929426	-0.512596011231321	0.21811	1.181675	0.999999958976769	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	5.63	1.83	0.24279	0.527000	0.22695	1.318000	0.25583	0.756000	0.94297	0.112000	0.23030	0.003000	0.18671	0.962000	0.52141	0.496:0.2783:0.2258:0.0	4.887	0.13065	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	1	0	0	0	0.02381	1431.98	36	chr7	120989862	.	A	G	1431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.20;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.46;ReadPosRankSum=7.000e-03;SOR=0.614	GT:AD:DP:GQ:PL	0/1:51,48:99:99:1446,0,1396	20	0	1	0
chr7	123582083	123582083	T	C	splicing	NDUFA5	NM_001291304:exon3:c.86-2A>G	.	.	.	.	563	874	78	7	0	92	0.05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0135783	.	.	.	.	.	.	.	.	0.0111803	291	26028	rs184260455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0095	0.0095	0.0099	0.0092	0.0329	0.0091	0.0090	0.0287	0.0272	0.0021	0.0044	0.0125	0.0421	0.0006	0.0018	0.0306	0.0118	0.0133	0.0329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1534.68	31	chr7	123582083	.	T	C	1534.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.931e+00;DP=721;ExcessHet=0.3300;FS=3.855;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=0.367;SOR=0.392	GT:AD:DP:GQ:PL	0/1:12,19:31:99:484,0,301	18	0	3	0
chr7	126533638	126533638	G	A	exonic	GRM8	.	nonsynonymous SNV	GRM8:NM_001371087:exon8:c.C1129T:p.P377S	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.433	B	0.164	B	0.000	D	1.000	D	2.79	M	-2.66	D	0.531	D	0.747	D	0.846	3.578	18.23	5.8	2.758	9.859	19.043	0.724	0.198329302775	.	.	3.297e-05	0	0	0	0	1.499e-05	0	0.0002	2.59e-05	4	154602	rs776841029	1.984e-05	1.984e-05	1.225e-05	2.75e-05	0.0003	1.392e-05	1.203e-05	6.094e-05	3.272e-05	0	0	0	0	0	0.0003	1.259e-05	8.279e-05	9.275e-05	1.972e-05	1.97e-05	0	4.038e-05	0.0002	5.24e-06	2.45e-06	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.074	0.42487	T	0.249	0.23776	T	0.249	0.35643	B	0.103	0.34953	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.005	0.85968	M	-2.66	0.90735	D	-4.52	0.78302	D	0.896	0.89577	0.531	0.90973	D	0.747	0.91384	D	10	0.66208047	0.70212	D	0.198329	0.86589	D	0.724	0.90280	.	.	0.760529830429	0.75834	0.8118058279733943	0.81136	0.35052041495	0.36897	0.674012064934	0.63409	T	0.540803	0.84274	D	0.207241	0.74570	D	0.296579	0.88042	D	0.325929425694405	0.26060	T	0.975102	0.92669	D	0.37614384	0.59036	0.4596635	0.68612	0.37614384	0.59036	0.4596635	0.68612	-6.664	0.51644	T	.	.	0.181	0.46085	B	.;.;.	.;.;.	4.195702	0.63268	24.6	0.9977381461792284	0.86174	0.98958	0.89172	D	AEFBI	0.924375	0.90230	D	0.552482986044221	0.70235	5.471629	0.656707817220819	0.79111	7.013837	0.999999977165945	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.8	5.8	0.92081	9.993000	0.99245	11.920000	0.99804	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.043	0.92990	831	0.39019	.;.;.	.	.	.	.	.	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	2537.98	34	chr7	126533638	.	G	A	2537.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.626e+00;DP=869;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.79;ReadPosRankSum=-3.060e-01;SOR=0.727	GT:AD:DP:GQ:PL	0/1:88,96:184:99:2552,0,2596	20	0	1	0
chr7	127599531	127599531	C	T	exonic	FSCN3	.	nonsynonymous SNV	FSCN3:NM_020369:exon5:c.C1271T:p.P424L,	.	.	438	1074	9	1	0	11	0.00509495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.436	B	0.024	B	0.008	N	0.655	D	0	N	0.95	T	-1.016	T	0.034	T	0.207	1.488	10.92	4.49	0.958	1.697	9.970	0.076	0.01155948857	0.0046	0.000998403	0.0041	0.0012	0.0014	0	0.0021	0.0067	0	0.0010	0.0041203	637	154602	rs34941808	0.0061	0.0061	0.0062	0.0059	0.0073	0.0060	0.0059	0.0071	0.0071	0.0011	0.0022	0.0033	2.519e-05	0.0023	0.0009	0.0073	0.0059	0.0011	0.0040	0.0040	0.0044	0.0035	0.0069	0.0037	0.0036	0.0064	0.0062	0.0013	0	0.0024	0.0026	0.0004	0.0019	0	0.0069	0.0024	0.0012	0.003	0.68238	D	0.022	0.57587	D	0.016	0.17332	B	0.004	0.10090	B	0.008466	0.30825	N	0.228496	0.655053	0.32999	D	0	0.06538	N	0.95	0.43279	T	-1.51	0.36787	N	0.351	0.39254	-1.0161	0.24980	T	0.034	0.14726	T	10	0.011538744	0.00252	T	0.011559	0.29307	T	0.076	0.22200	.	.	0.413891365518	0.41003	0.3340084537075522	0.33313	0.0777758828851	0.08748	0.410015881062	0.26459	T	0.003073	0.02473	T	-0.54165	0.00328	T	-0.544846	0.17823	T	0.0316915787858512	0.02257	T	0.59684	0.22194	T	0.056650057	0.11174	0.07990745	0.18029	0.056650057	0.11174	0.07990745	0.18029	-5.384	0.40765	T	.	.	0.099	0.16582	B	.	.	2.224496	0.28394	17.78	0.85321436873864454	0.15820	0.49207	0.28381	N	AEFDBI	0.090920	0.18420	N	-0.492978251281183	0.22311	1.190404	-0.314682311968875	0.27625	1.534177	0.969358848466505	0.29122	0.553676	0.25195	0	0.588015	0.36545	0	0.573078	0.19857	0	0.562822	0.20929	0	.	.	5.64	4.49	0.54177	1.695000	0.37381	6.141000	0.54053	-0.102000	0.15922	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	0.8291:0.1709:0.0:0.0	9.970	0.40921	0	0.99858	Fascin 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	1608.98	36	chr7	127599531	.	C	T	1608.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=-4.260e-01;SOR=0.680	GT:AD:DP:GQ:PL	0/1:53,60:113:99:1623,0,1227	20	0	1	0
chr7	128850063	128850063	C	A	exonic	FLNC	.	nonsynonymous SNV	FLNC:NM_001458:exon31:c.C5287A:p.P1763T,	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, familial restrictive 5, Autosomal dominant;Myopathy, distal, 4, Autosomal dominant;Myopathy, myofibrillar, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1806144	Cardiovascular_phenotype|Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement|Dilated_Cardiomyopathy,_Dominant|Hypertrophic_cardiomyopathy_26|Myofibrillar_myopathy_5	MedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065,Orphanet:63273|MedGen:CN239310|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047,Orphanet:75249|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524,Orphanet:171445	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.39	T	0.01	B	0.028	B	0.027	N	1.000	D	0	N	-1.91	D	-0.578	T	0.343	T	0.456	0.802	8.218	5.09	2.361	2.582	15.403	0.247	0.093354626898	.	.	5.88e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs749076427	1.225e-05	1.437e-05	8.543e-06	1.604e-05	0.0002	7.46e-06	6.1e-06	0.0001	8.462e-05	0	0	0	0	0	0	9.261e-07	3.444e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.555	0.06482	T	0.544	0.09621	T	0.01	0.15535	B	0.028	0.21332	B	0.026609	0.25890	N	0.387006	0.996786	0.81001	D	0	0.06538	N	-1.91	0.84701	D	-1.09	0.28290	N	0.323	0.36359	-0.5781	0.65692	T	0.343	0.70827	T	10	0.12545553	0.23841	T	0.093355	0.76058	D	0.247	0.55478	0.125	0.03095	0.575652722498	0.57233	0.3925966588220428	0.39174	0.308647816877	0.33177	0.644808411598	0.59248	T	0.23569	0.60301	T	-0.142571	0.29483	T	-0.205901	0.54087	T	0.0723000890433265	0.08971	T	0.746025	0.36642	T	0.06878267	0.15012	0.06515891	0.13168	0.06878267	0.15012	0.06515891	0.13167	-4.741	0.33896	T	.	.	0.085	0.10014	B	.	.	3.401989	0.47155	22.4	0.85339962569404049	0.15832	0.95311	0.64228	D	AEFBI	0.307122	0.41408	N	-0.247519225361881	0.31201	1.747267	-0.0273728646916988	0.38484	2.267926	0.999607765381834	0.40866	0.706548	0.73137	0	0.588015	0.36545	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	5.09	5.09	0.68647	1.182000	0.31639	3.197000	0.36732	0.599000	0.40250	0.596000	0.27714	1.000000	0.68203	0.799000	0.37691	0.0:1.0:0.0:0.0	15.403	0.74580	587	0.69154	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1256.98	35	chr7	128850063	.	C	A	1256.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.061e+00;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.45;ReadPosRankSum=1.11;SOR=0.732	GT:AD:DP:GQ:PL	0/1:36,51:87:99:1271,0,865	20	0	1	0
chr7	128957286	128957286	G	A	exonic	TNPO3	.	nonsynonymous SNV	TNPO3:NM_001191028:exon21:c.C2549T:p.A850V	Muscular dystrophy, limb-girdle, type 1F, Autosomal dominant	.	434	1084	4	0	0	4	0.00184162	.	.	266683	not_provided|Autosomal_dominant_limb-girdle_muscular_dystrophy_type_1F|TNPO3-related_disorder	MedGen:C3661900|MONDO:MONDO:0012034,MedGen:C1842062,OMIM:608423,Orphanet:55595|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.75	T	0.999	D	0.942	D	0.000	D	1.000	D	1.545	L	.	.	-0.776	T	0.191	T	0.606	3.920	19.94	4.03	0.816	9.028	11.127	0.214	0.0108967158709	0.0002	0.000399361	0.0005	0.0003	0.0012	0	0	0.0005	0.0033	0.0005	0.0004916	76	154602	rs61756249	0.0004	0.0004	0.0004	0.0004	0.0118	0.0003	0.0003	0.0095	0.0087	8.962e-05	0.0017	0.0011	0	0	0.0118	0.0002	0.0009	0.0005	0.0007	0.0007	0.0005	0.0008	0.0032	0.0006	0.0005	0.0025	0.0022	0.0001	0	0.0032	0.0006	0	0	0.0170	0.0004	0.0033	0.0012	0.015	0.56456	D	0.032	0.54159	D	0.861	0.77913	P	0.275	0.67772	B	0.000000	0.84330	D	0.000000	0.999946	0.51968	D	2.05	0.56469	M	.	.	.	-2.11	0.48020	N	0.807	0.80278	-0.7760	0.56526	T	0.191	0.54315	T	9	0.057059377	0.06493	T	0.010897	0.27957	T	0.214	0.50650	.	.	0.705095963704	0.70253	0.6612150767598838	0.66058	0.936315210153	0.72031	0.859403133392	0.91023	D	0.090954	0.38695	T	-0.211463	0.19174	T	-0.089759	0.64180	T	0.0600704327191556	0.07180	T	0.941406	0.78138	D	0.47150517	0.65383	0.22902928	0.47963	0.45484588	0.64348	0.24757326	0.50289	-6.776	0.52380	T	.	.	0.423	0.67952	A	.;.;.;.;.	.;.;.;.;.	4.327387	0.66282	24.9	0.99788819188506084	0.87484	0.96986	0.72034	D	AEFBCI	0.789753	0.71885	D	0.342585578579552	0.58348	4.006607	0.392150897739389	0.61080	4.303278	0.999663631008767	0.41534	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	4.03	0.46115	9.207000	0.94192	9.859000	0.82043	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1387:0.717:0.1443	11.127	0.47547	503	0.75780	.;.;.;.;.	.	.	.	.	.	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	1703.11	33	chr7	128957286	.	G	A	1703.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-7.770e-01;DP=811;ExcessHet=0.1072;FS=8.119;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=1.08;SOR=0.973	GT:AD:DP:GQ:PL	0/1:45,46:91:99:1049,0,1119	19	0	2	0
chr7	129203555	129203555	G	A	exonic	SMO	.	nonsynonymous SNV	SMO:NM_005631:exon2:c.G503A:p.R168H,	Basal cell carcinoma, somatic;Curry-Jones syndrome, somatic mosaic	.	430	1061	29	2	0	33	0.0153132	.	.	139005	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.768	P	0.372	B	0.000	D	0.954	D	1.8	L	-1.34	T	-0.225	T	0.322	T	0.227	4.281	22.4	4.43	2.584	4.784	8.401	0.426	.	0.0021	0.00958466	0.0095	0.0004	0.0013	0	0.0002	0.0032	0.0158	0.0532	0.0069339	1072	154602	rs61746143	0.0047	0.0047	0.0032	0.0061	0.0462	0.0046	0.0045	0.0450	0.0445	0.0005	0.0017	0.0053	0	0.0006	0.0153	0.0020	0.0048	0.0462	0.0030	0.0030	0.0022	0.0038	0.0458	0.0028	0.0027	0.0408	0.0389	0.0002	0	0.0023	0.0078	0.0004	0	0.0068	0.0024	0.0014	0.0458	0.007	0.59928	D	0.018	0.59732	D	0.768	0.43819	P	0.372	0.43610	B	0.000012	0.62929	D	0.099149	0.954403	0.37876	D	1.64	0.41913	L	-1.34	0.79944	T	-3.08	0.63323	D	0.36	0.40164	-0.2252	0.77013	T	0.322	0.69056	T	10	0.017337203	0.00370	T	.	.	.	0.426	0.73372	.	.	0.856339808068	0.85495	0.4635699264073164	0.46275	1.68521837868	0.90051	0.456530988216	0.32835	T	0.787159	0.94435	D	-0.362033	0.04016	T	-0.260677	0.48757	T	0.0523352547188831	0.05905	T	0.89581	0.63671	D	0.26048836	0.49105	0.115611814	0.27908	0.3058411	0.53423	0.115611814	0.27907	-6.068	0.46844	T	.	.	0.094	0.14293	B	.	.	5.101587	0.85237	28.5	0.99953317081244297	0.99957	0.66007	0.32930	D	AEFDBI	0.238549	0.36065	N	0.434301182156193	0.63319	4.563295	0.492786399810357	0.67511	5.093808	0.999239072247611	0.38840	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	5.5	4.43	0.52967	5.280000	0.65411	8.352000	0.77014	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.181:0.0:0.819:0.0	8.401	0.31747	714	0.56256	Frizzled domain|Frizzled domain|Frizzled 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	0.04762	2768.11	33	chr7	129203555	.	G	A	2768.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.400e-01;DP=834;ExcessHet=0.1072;FS=0.622;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.68;ReadPosRankSum=-6.530e-01;SOR=0.639	GT:AD:DP:GQ:PL	0/1:39,41:80:99:1059,0,1037	19	0	2	0
chr7	142063511	142063511	C	A	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon36:c.C4270A:p.P1424T	.	.	424	1088	10	0	0	10	0.00457457	.	.	699890	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	.	.	1.000	D	4.615	H	-3.13	D	0.932	D	0.906	D	0.853	3.856	19.59	4.12	1.839	7.707	15.216	0.924	.	0.0066	0.00259585	0.0073	0.0011	0.0026	0	0.0198	0.0098	0.0084	0.0031	0.0068887	1065	154602	rs185053832	0.0097	0.0097	0.0099	0.0095	0.0108	0.0096	0.0095	0.0107	0.0106	0.0013	0.0031	0.0073	5.043e-05	0.0171	0.0024	0.0108	0.0093	0.0031	0.0075	0.0076	0.0076	0.0075	0.0112	0.0072	0.0070	0.0105	0.0102	0.0016	0.0121	0.0035	0.0092	0	0.0184	0	0.0112	0.0095	0.0021	0.002	0.72154	D	0.002	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999672	0.48205	D	4.15	0.97575	H	-3.13	0.92829	D	-7.47	0.94958	D	0.935	0.94904	0.932	0.96136	D	0.906	0.96892	D	9	0.041749626	0.02858	T	.	.	.	0.924	0.98117	.	.	0.968639366473	0.96829	0.7952344949650757	0.79476	0.314917620909	0.33772	0.616810083389	0.55278	T	0.826896	0.95826	D	0.0869764	0.62847	D	0.362547	0.90798	D	0.096197229198094	0.11933	T	0.934107	0.84340	D	0.86951214	0.88823	0.81677973	0.89333	0.86951214	0.88824	0.81677973	0.89333	-13.011	0.89410	D	.	.	0.951	0.87017	P	.;.;.	.;.;.	4.458664	0.69369	25.4	0.9966564841761234	0.78266	0.99259	0.93576	D	AEFBI	0.872503	0.79439	D	0.851508806426223	0.89192	9.87237	0.67211760356626	0.80267	7.261131	0.999993569595763	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.12	4.12	0.47504	7.512000	0.80617	.	.	0.329000	0.19528	1.000000	0.71638	1.000000	0.68203	0.783000	0.37026	0.0:1.0:0.0:0.0	15.216	0.72960	.	.	.;.;.	.	.	.	.	.	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	2302.98	44	chr7	142063511	.	C	A	2302.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.648;DP=981;ExcessHet=0.0000;FS=2.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.69;MQRankSum=0.248;QD=9.52;ReadPosRankSum=0.342;SOR=0.902	GT:AD:DP:GQ:PL	0/1:141,101:242:99:2317,0,3505	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	1/1:0,64,0,0:64:99:2798,193,0,2798,193,2798,2798,193,2798,2798	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	1/1:0,64,0,0:64:99:2798,193,0,2798,193,2798,2798,193,2798,2798	0	16	2	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.08	B	0.074	B	0.948	N	1.000	N	1.69	L	5.65	T	-0.976	T	0.003	T	0.072	-0.179	3.127	-8.61	-1.743	-1.632	6.528	0.028	0.00241750934598	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373019967	6.544e-06	0.0009	4.362e-06	8.725e-06	7.733e-06	3.08e-06	2.23e-06	3.33e-06	2.4e-06	0	0	0	0	1.901e-05	0	7.733e-06	0	0	0	1.985e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.412	0.14456	T	0.08	0.24543	B	0.074	0.28220	B	0.947612	0.07634	N	1.033800	1	0.08975	N	1.015	0.25427	L	5.65	0.00784	T	-0.47	0.15178	N	0.052	0.02366	-0.9758	0.35948	T	0.003	0.01092	T	10	0.07525703	0.11609	T	0.002418	0.04757	T	0.028	0.06331	0.652	0.78963	0.101711395817	0.09552	0.04758141662796776	0.04701	0.0497017490909	0.05451	0.254782557487	0.04288	T	0.002724	0.02115	T	-0.393424	0.02556	T	-0.802903	0.01831	T	0.103939465538467	0.12785	T	.	.	.	0.047795918	0.08228	0.037618708	0.03453	0.047795918	0.08227	0.037618708	0.03453	-3.217	0.12689	T	.	.	0.092	0.13503	B	.	.	-1.055815	0.00695	0.020	0.53951675314367431	0.05040	0.01208	0.04299	N	AEFBI	0.032596	0.03711	N	-1.54910637092624	0.01540	0.06726581	-1.68964110834314	0.01184	0.05327442	0.999999965671774	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.7	-8.61	0.00769	-1.143000	0.03311	-0.836000	0.07236	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.279:0.1065:0.5102:0.1042	6.528	0.21510	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4286	4409.3	115	chr7	143478290	.	A	G	4409.3	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-2.767e+00;DP=2442;ExcessHet=30.0624;FS=186.672;InbreedingCoeff=-0.7419;MLEAC=18;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=1.01;SOR=12.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,16:94:9:0|1:143478290_A_G:9,0,2508:143478290	3	0	18	0
chr7	149765193	149765193	C	G	exonic	ZNF467	.	nonsynonymous SNV	ZNF467:NM_207336:exon5:c.G1309C:p.G437R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.005	U	1.000	D	2.89	M	-0.21	T	0.238	D	0.525	D	0.653	4.572	24.8	3.9	2.025	2.883	15.652	0.459	0.863565087641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.021	0.58089	D	1.0	0.90584	D	0.997	0.86255	D	0.004829	0.33350	U	0.000000	0.999955	0.81001	D	3.425	0.91960	M	-0.21	0.66294	T	-6.23	0.90490	D	0.67	0.67822	0.238	0.86546	D	0.525	0.82326	D	10	0.8977859	0.89135	D	0.863565	0.98953	D	0.459	0.75687	0.6	0.73105	0.735395247976	0.73303	0.28704004090768415	0.28617	1.50794490564	0.87177	0.918557047844	0.98211	D	0.151406	0.49133	T	0.101325	0.64436	D	-0.0922299	0.63993	T	0.970561444759369	0.68995	D	0.934007	0.75281	D	0.41623753	0.61841	0.44477955	0.67648	0.41623753	0.61841	0.44477955	0.67649	-10.449	0.76554	D	.	.	0.500	0.64577	A	.	.	4.193401	0.63219	24.6	0.99874551523204502	0.95160	0.91132	0.52923	D	AEFDBHCI	0.611590	0.59998	D	0.627713488662591	0.74933	6.217826	0.524741958897973	0.69659	5.392086	0.999999999999948	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.606814	0.37721	0	0.567892	0.33627	0	.	.	3.9	3.9	0.44240	2.526000	0.45267	4.719000	0.44495	0.597000	0.34315	0.941000	0.32681	1.000000	0.68203	0.094000	0.17991	0.0:1.0:0.0:0.0	15.652	0.76863	982	0.03397	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	1366.98	34	chr7	149765193	.	C	G	1366.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.241;DP=805;ExcessHet=0.0000;FS=1.745;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.19;ReadPosRankSum=0.371;SOR=0.931	GT:AD:DP:GQ:PL	0/1:36,54:90:99:1381,0,808	20	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H,	.	YES	526	320	669	7	0	683	0.516251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.002	U	1.000	D	2.11	M	-2.28	D	0.656	D	0.754	D	0.82	3.081	16.29	4.67	1.866	9.283	14.405	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4048	21206.9	371	chr7	152229940	.	A	G	21206.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-6.890e-01;DP=6803;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=44.68;MQRankSum=0.452;QD=3.93;ReadPosRankSum=0.208;SOR=0.720	GT:AD:DP:GQ:PL	0/1:229,94:323:99:1633,0,7050	4	0	17	0
chr8	737814	737814	G	T	exonic	DLGAP2	.	nonsynonymous SNV	DLGAP2:NM_001346810:exon1:c.G7T:p.A3S,	.	.	943	554	20	5	0	30	0.026362	.	.	3210342	DLGAP2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00998403	.	.	.	.	.	.	.	.	0.0069156	180	26028	rs112628444	0.0106	0.0047	0.0103	0.0110	0.0303	0.0103	0.0101	0.0252	0.0233	0.0032	0.0074	0.0054	4.635e-05	0.0069	0.0178	0.0130	0.0104	0.0303	0.0089	0.0089	0.0091	0.0087	0.0321	0.0085	0.0083	0.0279	0.0264	0.0021	0	0.0103	0.0064	0.0010	0.0050	0.0171	0.0124	0.0105	0.0321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004456252	0.00091	T	.	.	.	.	.	.	.	.	.	0.020872219865692203	0.02040	.	.	.	.	.	0.006796	0.06227	T	.	.	.	.	.	.	.	.	.	0.418458	0.11053	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.59194	A	.	.	3.322809	0.45711	22.2	0.97031512956802823	0.32072	0.16736	0.19525	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999017994621512	0.38212	0.095506	0.02484	0	0.059962	0.00310	0	0.068936	0.01964	0	0.109499	0.03221	0	0.168939	0.28779	3.55	1.69	0.23290	1.269000	0.32677	3.008000	0.35949	0.463000	0.21641	0.052000	0.21487	1.000000	0.68203	0.854000	0.40426	0.2523:0.0:0.7477:0.0	5.842	0.17896	981	0.03995	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1529.11	35	chr8	737814	.	G	T	1529.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.419;DP=806;ExcessHet=0.1072;FS=1.420;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.58;ReadPosRankSum=-2.890e-01;SOR=0.872	GT:AD:DP:GQ:PL	0/1:42,32:74:99:738,0,984	19	0	2	0
chr8	1903442	1903442	C	G	exonic	ARHGEF10	.	stopgain	ARHGEF10:NM_001308152:exon15:c.C1698G:p.Y566X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	3.951	20.2	3.22	2.344	0.472	7.865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1332591469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.435	0.47857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574913	0.96804	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive;.;.	.;.;.;High;.;.	8.763222	0.97989	38	0.99094794411084719	0.52321	0.87491	0.47048	D	AEFBI	0.263642	0.38114	N	0.604028773773163	0.73430	5.964677	0.435560390917111	0.63795	4.620511	0.999947850484156	0.47345	0.722319	0.85440	0	0.588015	0.36545	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.06	3.22	0.36041	0.786000	0.26505	0.918000	0.22682	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.681000	0.33571	0.0:0.6846:0.0:0.3154	7.865	0.28696	952	0.10565	.;.;.;.;.;.	.	.	.	.	.	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	2232.98	36	chr8	1903442	.	C	G	2232.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.78;DP=868;ExcessHet=0.0000;FS=5.806;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.62;ReadPosRankSum=-1.290e+00;SOR=1.138	GT:AD:DP:GQ:PL	0/1:84,80:164:99:2247,0,2144	20	0	1	0
chr8	8377353	8377364	GCCGCTGCCGCT	-	exonic	PRAG1	.	nonframeshift deletion	PRAG1:NM_001080826:exon3:c.1045_1056del:p.S349_L1405delinsASSPFVPHLESDYCSLMKEPAPEKQQDPGCPGVTPSRCLGLTGEPQPPAHPREATQPEPIYAESTKRKKAAPVPSKSQAKIEHAAAAQGQGQVCTGNAWAQKAASGWGRDSPDPTPQVSATITVMAAHPEEDHRTIYLSSPDSAVGVQWPRGPVSQNSEVGEEETSAGQGLSSRESHAHSASESKPKERPAIPPKLSKSSPVGSPVSPSAGGPPVSPLADLSDGSSGGSSIGPQPPSQGPADPAPSCRTNGVAISDPSRCPQPAASSASEQRRPRFQAGTWSRQCRIEEEEEVEQELLSHSWGRETKNGPTDHSNSTTWHRLHPTDGSSGQNSKVGTGMSKSASFAFEFPKDRSGIETFSPPPPPPKSRHLLKMNKSSSDLEKVSQGSAESLSPSFRGVHVSFTTGSTDSLASDSRTCSDGGPSSELAHSPTNSGKKLFAPVPFPSGSTEDVSPSGPQQPPPLPQKKIVSRAASSPDGFFWTQGSPKPGTASPKLNLSHSETNVHDESHFSYSLSPGNRHHPVFSSSDPLEKAFKGSGHWLPAAGLAGNRGGCGSPGLQCKGAPSASSSQLSVSSQASTGSTQLQLHGLLSNISSKEGTYAKLGGLYTQSLARLVAKCEDLFMGGQKKELHFNENNWSLFKLTCNKPCCDSGDAIYYCATCSEDPGSTYAVKICKAPEPKTVSYCSPSVPVHFNIQQDCGHFVASVPSSMLSSPDAPKDPVPALPTHPPAQEQDCVVVITREVPHQTASDFVRDSAASHQAEPEAYERRVCFLLLQLCNGLEHLKEHGIIHRDLCLENLLLVHCTLQAGPGPAPAPAPAPAPAAAAPPCSSAAPPAGGTLSPAAGPASPEGPREKQLPRLIISNFLKAKQKPGGTPNLQQKKSQARLAPEIVSASQYRKFDEFQTGILIYELLHQPNPFEVRAQLRERDYRQEDLPPLPALSLYSPGLQQLAHLLLEADPIKRIRIGEAKRVLQCLLWGPRRELVQQPGTSEEALCGTLHNWIDMKRALMMMKFAEKAVDRRRGVELEDWLCCQYLASAEPGALLQSLKLLQLL*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1275152506	0.0002	0.0002	0.0003	0.0002	0.0066	0.0002	0.0002	0.0058	0.0056	0.0066	0.0003	0	7.61e-05	0	0	3.646e-05	0.0005	0.0001	0.0017	0.0017	0.0017	0.0017	0.0059	0.0015	0.0015	0.0053	0.0050	0.0059	0	0.0004	0	0	9.557e-05	0	7.393e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27670.54	87	chr8	8377352	.	CGCCGCTGCCGCT	C,CGCCGCT	27670.54	.	AC=1,15;AF=0.024,0.357;AN=42;BaseQRankSum=0.016;DP=1905;ExcessHet=4.5793;FS=0.000;InbreedingCoeff=-0.2115;MLEAC=1,15;MLEAF=0.024,0.357;MQ=60.00;MQRankSum=0.00;QD=22.31;ReadPosRankSum=0.294;SOR=0.704	GT:AD:DP:GQ:PL	0/2:47,0,46:93:99:1791,1933,3873,0,1940,1800	7	0	1	0
chr8	8377359	8377364	GCCGCT	-	exonic	PRAG1	.	nonframeshift deletion	PRAG1:NM_001080826:exon3:c.1045_1050del:p.S351_L1405delinsASSPFVPHLESDYCSLMKEPAPEKQQDPGCPGVTPSRCLGLTGEPQPPAHPREATQPEPIYAESTKRKKAAPVPSKSQAKIEHAAAAQGQGQVCTGNAWAQKAASGWGRDSPDPTPQVSATITVMAAHPEEDHRTIYLSSPDSAVGVQWPRGPVSQNSEVGEEETSAGQGLSSRESHAHSASESKPKERPAIPPKLSKSSPVGSPVSPSAGGPPVSPLADLSDGSSGGSSIGPQPPSQGPADPAPSCRTNGVAISDPSRCPQPAASSASEQRRPRFQAGTWSRQCRIEEEEEVEQELLSHSWGRETKNGPTDHSNSTTWHRLHPTDGSSGQNSKVGTGMSKSASFAFEFPKDRSGIETFSPPPPPPKSRHLLKMNKSSSDLEKVSQGSAESLSPSFRGVHVSFTTGSTDSLASDSRTCSDGGPSSELAHSPTNSGKKLFAPVPFPSGSTEDVSPSGPQQPPPLPQKKIVSRAASSPDGFFWTQGSPKPGTASPKLNLSHSETNVHDESHFSYSLSPGNRHHPVFSSSDPLEKAFKGSGHWLPAAGLAGNRGGCGSPGLQCKGAPSASSSQLSVSSQASTGSTQLQLHGLLSNISSKEGTYAKLGGLYTQSLARLVAKCEDLFMGGQKKELHFNENNWSLFKLTCNKPCCDSGDAIYYCATCSEDPGSTYAVKICKAPEPKTVSYCSPSVPVHFNIQQDCGHFVASVPSSMLSSPDAPKDPVPALPTHPPAQEQDCVVVITREVPHQTASDFVRDSAASHQAEPEAYERRVCFLLLQLCNGLEHLKEHGIIHRDLCLENLLLVHCTLQAGPGPAPAPAPAPAPAAAAPPCSSAAPPAGGTLSPAAGPASPEGPREKQLPRLIISNFLKAKQKPGGTPNLQQKKSQARLAPEIVSASQYRKFDEFQTGILIYELLHQPNPFEVRAQLRERDYRQEDLPPLPALSLYSPGLQQLAHLLLEADPIKRIRIGEAKRVLQCLLWGPRRELVQQPGTSEEALCGTLHNWIDMKRALMMMKFAEKAVDRRRGVELEDWLCCQYLASAEPGALLQSLKLLQLL*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0072	0.0009	0.0003	0.0003	5.986e-05	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27670.54	87	chr8	8377352	.	CGCCGCTGCCGCT	C,CGCCGCT	27670.54	.	AC=1,15;AF=0.024,0.357;AN=42;BaseQRankSum=0.016;DP=1905;ExcessHet=4.5793;FS=0.000;InbreedingCoeff=-0.2115;MLEAC=1,15;MLEAF=0.024,0.357;MQ=60.00;MQRankSum=0.00;QD=22.31;ReadPosRankSum=0.294;SOR=0.704	GT:AD:DP:GQ:PL	0/2:47,0,46:93:99:1791,1933,3873,0,1940,1800	7	0	1	0
chr8	10609944	10609944	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T4154C:p.L1385P,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.027	B	0.014	B	.	.	1.000	N	0.345	N	3.31	T	-0.952	T	0.010	T	0.123	0.824	8.317	-1.96	-0.572	0.007	4.524	0.019	0.00154599027019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.957e-07	6.841e-06	1.384e-06	0	9.147e-07	0	0	.	.	0	0	0	0	0	0	9.147e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.352	0.17372	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.31	0.06291	T	-0.84	0.22944	N	0.246	0.27792	-0.9521	0.40608	T	0.010	0.03627	T	9	0.09340763	0.16528	T	0.001546	0.02420	T	0.019	0.03383	0.19	0.10039	0.252681307341	0.24864	0.04820050725330025	0.04763	.	.	0.277951002121	0.07208	T	.	.	.	-0.338111	0.05520	T	-0.723449	0.04631	T	0.104427913888091	0.12837	T	0.312769	0.06128	T	0.18423171	0.39729	0.18186693	0.41077	0.18423171	0.39728	0.18186693	0.41076	-5.006	0.36905	T	.	.	0.116	0.23500	B	.	.	1.339715	0.17462	13.18	0.83328979539444226	0.14666	0.00623	0.02749	N	AEFDBI	0.039816	0.05836	N	-1.21499860110366	0.04781	0.2165456	-1.31279977474022	0.04264	0.2007433	1.76998291139271E-4	0.05786	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.72	-1.96	0.07113	-0.566000	0.06013	-0.531000	0.08635	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4099:0.1824:0.4077:0.0	4.524	0.11378	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4444	23209.27	218	chr8	10609944	.	A	G	23209.27	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-3.977e+00;DP=5343;ExcessHet=20.9642;FS=235.485;InbreedingCoeff=-0.7143;MLEAC=18;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=5.49;ReadPosRankSum=0.786;SOR=14.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,49:242:99:0|1:10609943_C_T:918,0,7616:10609943	2	0	16	3
chr8	10609948	10609948	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150C:p.G1384R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3188301	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-1.090	0.153	0.493	0.514	-0.384	6.300	0.045	0.00162238193855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.94e-06	1.642e-05	1.095e-05	6.912e-06	0.0003	4.99e-06	3.84e-06	0.0002	0.0002	0	0	0	0.0003	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.10402462	0.19156	T	0.001622	0.02625	T	0.045	0.12272	0.278	0.23164	0.316788114976	0.31282	0.06568765536653219	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.397244	0.02413	T	-0.80839	0.01701	T	0.0790720420029634	0.09867	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.672697	0.10411	7.134	0.053606148112299815	0.00010	0.02277	0.06569	N	AEFDBI	0.028927	0.02637	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,48,0:238:99:0|1:10609943_C_T:911,0,7539,1483,7683,9165:10609943	0	0	15	4
chr8	10609948	10609948	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150A:p.G1384R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-0.967	0.313	0.493	0.514	-0.384	6.300	0.050	0.00160529655429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	2.736e-06	1.369e-06	4.147e-06	3.01e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	3.01e-05	0	0	0	0	0	2.712e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.104384124	0.19241	T	0.001605	0.02574	T	0.050	0.13987	0.278	0.23164	0.316788114976	0.31282	0.06568764159549773	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.39725	0.02413	T	-0.808399	0.01701	T	0.0816829286653207	0.10202	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.735258	0.11045	7.700	0.060865936656048288	0.00019	0.01778	0.05572	N	AEFDBI	0.030371	0.03043	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,48,0:238:99:0|1:10609943_C_T:911,0,7539,1483,7683,9165:10609943	0	0	15	4
chr8	10697791	10697791	G	T	exonic	C8orf74	.	nonsynonymous SNV	C8orf74:NM_001040032:exon3:c.G434T:p.C145F,	.	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.97	D	0.833	P	0.000	D	1.000	N	2.125	M	1.47	T	-1.112	T	0.004	T	0.754	2.172	13.22	4.36	1.211	2.089	10.168	0.254	.	0.0012	0.0249601	0.0147	0.0021	0.0614	0.0771	0.0218	0.0028	0.0201	0.0021	0.0135445	2094	154602	rs77073793	0.0073	0.0073	0.0075	0.0071	0.1398	0.0072	0.0071	0.1367	0.1354	0.0008	0.0555	0.0031	0.1398	0.0200	0.0019	0.0007	0.0070	0.0029	0.0093	0.0093	0.0077	0.0110	0.0797	0.0089	0.0087	0.0733	0.0708	0.0014	0	0.0378	0.0012	0.0797	0.0211	0.0034	0.0015	0.0071	0.0044	0.682	0.04404	T	0.003	0.76473	D	0.97	0.56973	D	0.833	0.59784	P	0.000001	0.62929	D	0.000000	0.897094	0.27773	N	1.995	0.54099	M	1.47	0.31987	T	-4.38	0.77143	D	0.206	0.22870	-1.1118	0.02920	T	0.004	0.01470	T	10	0.002952665	0.00048	T	.	.	.	0.254	0.56428	.	.	.	.	0.34746773949268006	0.34660	0.0944726106456	0.10668	.	.	.	0.144722	0.48148	T	-0.433531	0.01412	T	-0.251694	0.49650	T	0.064159008552507	0.07806	T	0.521348	0.16985	T	0.28695047	0.51708	0.24560565	0.50051	0.28695047	0.51708	0.24560565	0.50050	-3.089	0.11170	T	.	.	0.144	0.31832	B	.	.	3.032114	0.40618	21.2	0.98427151450099304	0.41354	0.85504	0.44643	D	AEFBI	0.178229	0.30549	N	0.172629695613506	0.49888	3.184311	0.109306233082189	0.45023	2.773	0.994067592998264	0.33472	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.24	4.36	0.51643	1.624000	0.36629	5.667000	0.49241	0.590000	0.31872	0.963000	0.33788	1.000000	0.68203	0.422000	0.27272	0.0935:0.0:0.9065:0.0	10.168	0.42066	770	0.49152	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3109.98	34	chr8	10697791	.	G	T	3109.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.337e+00;DP=960;ExcessHet=0.0000;FS=0.470;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=-2.090e-01;SOR=0.648	GT:AD:DP:GQ:PL	0/1:136,117:253:99:3124,0,3810	20	0	1	0
chr8	12132477	12132477	G	T	exonic	USP17L7	.	nonsynonymous SNV	USP17L7:NM_001256869:exon1:c.C1533A:p.S511R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.983e-06	6.815e-06	0	1.439e-05	.	0	0	.	.	0	0	0	0	0	0	0.0037	0	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.625	0.02162	N	.	.	.	.	.	.	0.008	0.00068	.	.	.	.	.	.	.	0.047372073	0.04046	T	.	.	.	.	.	.	.	0.0846915920261	0.08053	0.010131033320863203	0.00975	.	.	.	.	.	0.002036	0.01442	T	-0.187538	0.22619	T	-0.507162	0.21608	T	.	.	.	0.355564	0.08068	T	0.11543607	0.27239	0.17870107	0.40556	0.11543607	0.27239	0.17870107	0.40555	-3.872	0.21884	T	.	.	0.067	0.02548	B	.	.	-0.194523	0.03119	0.497	0.36041249771526462	0.02296	0.00043	0.00351	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00225409001432214	0.09270	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0480595	0.07371	.	.	.	-0.856000	0.04398	-7.260000	0.01195	-0.509000	0.05002	0.013000	0.18845	0.000000	0.08366	0.001000	0.02609	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	0.07895	5082.65	400	chr8	12132477	.	G	C,T	5082.65	.	AC=1,2;AF=0.026,0.053;AN=38;BaseQRankSum=2.69;DP=2032;ExcessHet=0.0000;FS=0.557;InbreedingCoeff=0.6381;MLEAC=1,2;MLEAF=0.026,0.053;MQ=58.65;MQRankSum=-1.345e+01;QD=9.72;ReadPosRankSum=-7.390e-01;SOR=0.605	GT:AD:DP:GQ:PL	2/2:0,0,123:123:99:3814,3814,3814,369,369,0	17	0	1	2
chr8	17715892	17715892	G	A	exonic	MTUS1	.	nonsynonymous SNV	MTUS1:NM_001001931:exon2:c.C200T:p.A67V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.988	D	0.836	P	0.000	D	1.000	D	1.95	M	2.67	T	-0.882	T	0.162	T	0.483	3.403	17.49	3.97	1.351	3.015	13.713	0.154	0.0286938277522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.72154	D	0.016	0.60972	D	0.973	0.62325	D	0.64	0.59919	P	0.000141	0.49130	D	0.085063	1	0.81001	D	2.75	0.80375	M	2.67	0.35775	T	-1.75	0.41428	N	0.565	0.58883	-0.8816	0.49634	T	0.162	0.49797	T	10	0.3372829	0.50853	T	0.028694	0.51333	D	0.154	0.40340	0.057	0.00169	0.673290731237	0.67052	0.14450706623451692	0.14373	.	.	0.408744990826	0.26283	T	0.058995	0.30995	T	-0.0489599	0.44606	T	-0.308104	0.43861	T	0.930219709873199	0.59478	D	0.869413	0.59928	D	0.16448002	0.36658	0.20729782	0.44982	0.16448002	0.36657	0.20729782	0.44982	-3.856	0.21644	T	.	.	0.096	0.33823	B	.;.;.;.	.;.;.;.	3.408129	0.47264	22.4	0.99882441669800304	0.95813	0.78196	0.38544	D	AEFBHCI	0.433621	0.49500	N	0.330785083233891	0.57735	3.942014	0.269580744998826	0.53771	3.544484	0.998582606468762	0.37247	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.85	3.97	0.45241	3.106000	0.50013	4.832000	0.45208	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.591000	0.31164	0.0:0.0:0.8455:0.1545	13.713	0.62160	609	0.67094	.;.;.;.	.	.	.	.	.	Uncertain significance	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	663.98	38	chr8	17715892	.	G	A	663.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.620e-01;DP=727;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=0.072;SOR=0.749	GT:AD:DP:GQ:PL	0/1:22,26:48:99:678,0,573	20	0	1	0
chr8	22163910	22163910	G	C	exonic	SFTPC	.	nonsynonymous SNV	SFTPC:NM_001317779:exon4:c.G304C:p.A102P	Surfactant metabolism dysfunction, pulmonary, 2, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	304877	not_specified|Interstitial_lung_disease_2|not_provided|Surfactant_metabolism_dysfunction,_pulmonary,_2	MedGen:CN169374|MONDO:MONDO:0800029,MedGen:C5561926,OMIM:178500,Orphanet:2032,Orphanet:79126|MedGen:C3661900|MONDO:MONDO:0024465,MedGen:C1970470,OMIM:610913	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.28	T	0.004	B	0.008	B	0.872	N	1.000	N	0.69	N	-1.31	T	-0.947	T	0.237	T	0.698	0.628	7.376	-2.78	-0.374	0.184	1.538	0.547	0.0545171781103	0.0002	0.000199681	0.0002	0	0.0002	0	0	0.0003	0	0.0004	0.0002199	34	154602	rs202145169	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0	2.236e-05	0	0	0	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	0.0002	8.655e-05	7.248e-05	0.0001	8.875e-05	2.404e-05	0	0.0002	0	0	0	0	0.0002	0.0009	0.0002	0.157	0.28395	T	0.246	0.40586	T	.	.	.	.	.	.	0.872432	0.07184	N	1.067260	1	0.08975	N	.	.	.	-1.31	0.79666	T	-1.33	0.41428	N	0.1	0.19055	-0.9471	0.41465	T	0.237	0.60451	T	10	0.0447284	0.03463	T	0.054517	0.65885	D	0.547	0.81193	.	.	0.593515057505	0.59029	0.6145508798823447	0.61387	0.577822155158	0.53695	0.328964650631	0.14777	T	0.025483	0.19048	T	-0.16086	0.26629	T	-0.152684	0.59006	T	0.00790225081601422	0.00093	T	0.549445	0.19782	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.19478	B	.;.;.;.	.;.;.;.	1.142976	0.15306	11.75	0.90113081400050943	0.19394	0.08522	0.14440	N	AEFDBI	0.367566	0.45498	N	-1.09176565298304	0.06794	0.3137763	-1.14816901127425	0.06801	0.3286011	0.999843778089155	0.43971	0.59774	0.34471	0	0.596491	0.49125	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.98	-2.78	0.05512	-0.180000	0.09747	1.415000	0.26314	0.671000	0.69459	0.000000	0.06391	0.002000	0.18203	0.075000	0.16954	0.1872:0.1191:0.2051:0.4886	1.538	0.02395	555	0.71762	BRICHOS domain|BRICHOS domain|BRICHOS domain;BRICHOS domain|BRICHOS domain|BRICHOS domain;BRICHOS domain|BRICHOS domain|BRICHOS domain;BRICHOS domain|BRICHOS domain|BRICHOS domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	1710.98	36	chr8	22163910	.	G	C	1710.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.435;DP=1076;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=-4.650e-01;SOR=0.724	GT:AD:DP:GQ:PL	0/1:75,72:147:99:1725,0,1743	20	0	1	0
chr8	25421622	25421622	C	T	exonic	GNRH1	.	nonsynonymous SNV	GNRH1:NM_000825:exon2:c.G200A:p.C67Y	.	.	4	1508	10	0	0	10	0.00330469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.95	D	0.000	D	1.000	D	.	.	0.55	T	-0.288	T	0.345	T	0.79	2.654	14.84	4.91	2.553	4.321	16.831	0.379	0.102105173149	.	.	0.0002	0	0	0	0	3.037e-05	0	0.0013	0.0001488	23	154602	rs765242446	0.0001	0.0001	7.527e-05	0.0001	0.0014	8.756e-05	8.241e-05	0.0009	0.0008	0	6.714e-05	0	0	0	0.0014	3.071e-05	0.0002	0.0011	4.604e-05	4.597e-05	2.571e-05	6.733e-05	0.0004	2.111e-05	1.528e-05	7.293e-05	3.03e-05	0	0	0.0002	0	0	0	0	1.471e-05	0.0005	0.0004	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.95	0.68788	D	0.000000	0.84330	D	0.000000	0.99996	0.52935	D	.	.	.	0.55	0.54728	T	-8.62	0.97496	D	0.887	0.88577	-0.2884	0.75309	T	0.345	0.71027	T	9	0.7762376	0.77482	D	0.102105	0.77538	D	0.379	0.69696	.	.	0.562917172789	0.55954	0.4806135232715197	0.47981	1.00011522387	0.74376	0.555352568626	0.46612	T	0.827521	0.95847	D	-0.161521	0.26526	T	-0.055231	0.66663	D	0.464355915784836	0.31325	T	0.60194	0.22516	T	0.835172	0.86265	0.8274855	0.90021	0.835172	0.86266	0.8274855	0.90022	-0.717	0.00734	T	0.2995485807005458	0.39681	0.212	0.44029	B	.;.	.;.	3.949265	0.57843	23.9	0.98251376090318021	0.39576	0.94454	0.61218	D	AEFBI	0.584713	0.58343	D	0.465043018155215	0.65062	4.775387	0.397902848858392	0.61436	4.343614	0.999998133767916	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	4.91	4.91	0.63897	4.386000	0.59385	7.433000	0.58809	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.104000	0.18471	0.0:1.0:0.0:0.0	16.831	0.85808	558	0.71484	.;.	.	.	.	.	.	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	2604.98	33	chr8	25421622	.	C	T	2604.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.001e+00;DP=910;ExcessHet=0.0000;FS=0.503;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-1.023e+00;SOR=0.757	GT:AD:DP:GQ:PL	0/1:104,110:214:99:2619,0,2537	20	0	1	0
chr8	26410387	26410387	G	A	exonic	BNIP3L	.	nonsynonymous SNV	BNIP3L:NM_001330491:exon6:c.G515A:p.S172N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.801	P	0.425	B	0.000	D	0.991	D	1.955	M	.	.	-0.633	T	0.229	T	0.156	3.550	18.11	6.17	2.941	6.377	15.125	0.225	0.00489485086806	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355626308	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.014	0.62352	D	0.801	0.45051	P	0.258	0.39350	B	0.000227	0.47286	D	0.266017	0.99131	0.41359	D	1.7	0.43825	L	.	.	.	-1.93	0.44852	N	0.196	0.32921	-0.6326	0.63460	T	0.229	0.59447	T	9	0.37519434	0.53778	T	0.004895	0.12286	T	0.225	0.52323	0.488	0.57257	0.567821670524	0.56447	0.8154898826550874	0.81504	0.474786711594	0.46659	0.544740796089	0.45115	T	0.310419	0.68237	T	-0.0634486	0.42366	T	-0.328916	0.41590	T	0.629959396139022	0.37616	D	0.965303	0.87188	D	0.22909	0.45640	0.2192801	0.46662	0.22909	0.45640	0.2192801	0.46661	-6.876	0.53122	T	.	.	0.483	0.63797	A	.;.;.;.	.;.;.;.	3.778387	0.54311	23.5	0.99581971878536546	0.73040	0.95801	0.66212	D	AEFBCI	0.878270	0.80342	D	0.564119317761184	0.70946	5.576826	0.660649362877141	0.79405	7.075726	0.999999994981469	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	6.467000	0.73463	11.910000	0.99563	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.2445:0.7555:0.0	15.125	0.72152	779	0.47767	.;.;.;.	.	.	.	.	.	Uncertain significance	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	1737.98	34	chr8	26410387	.	G	A	1737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.752e+00;DP=812;ExcessHet=0.0000;FS=1.402;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=-1.354e+00;SOR=0.541	GT:AD:DP:GQ:PL	0/1:61,68:129:99:1752,0,1652	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	0/1:153,52:205:12:.:.:12,0,3292	8	0	10	3
chr8	29147599	29147599	G	A	exonic	KIF13B	.	nonsynonymous SNV	KIF13B:NM_015254:exon17:c.C1817T:p.P606L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	1.0	D	0.999	D	0.000	D	1.000	D	2.58	M	-0.57	T	0.136	D	0.586	D	0.878	4.678	25.8	5.81	2.746	7.337	20.082	0.466	0.126188622766	.	.	3.358e-05	0	0.0003	0	0	1.515e-05	0	0	2.59e-05	4	154602	rs750470565	6.186e-06	9.577e-06	6.843e-06	5.522e-06	0.0001	2.91e-06	2.11e-06	5.813e-05	3.957e-05	0	0.0001	0	0	0	0	2.708e-06	0	0	1.315e-05	1.97e-05	0	2.693e-05	0.0001	2.19e-06	8.2e-07	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.002	0.72154	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.525	0.73725	M	-0.57	0.71307	T	-9.24	0.98602	D	0.898	0.89800	0.136	0.84808	D	0.586	0.85167	D	10	0.8164784	0.80883	D	0.126189	0.80782	D	0.466	0.76156	.	.	0.927626815319	0.92688	0.43415656669161884	0.43332	0.61352129374	0.55912	0.707061946392	0.68167	T	0.282622	0.65537	T	0.154572	0.69696	D	0.239301	0.85116	D	0.976262748241425	0.71301	D	0.983402	0.94400	D	0.76023626	0.81467	0.773161	0.86612	0.76023626	0.81469	0.773161	0.86613	-10.6	0.77420	D	.	.	0.651	0.70966	P	.;.	.;.	6.325402	0.95018	34	0.99891121745253386	0.96513	0.99515	0.96953	D	AEFBI	0.843251	0.76030	D	0.812706779379912	0.86895	9.034294	0.787375722079742	0.88903	9.760086	0.99999999999929	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	7.459000	0.79833	11.679000	0.94198	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:1.0:0.0	20.082	0.97782	775	0.48401	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	751.98	57	chr8	29147599	.	G	A	751.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.41;DP=1493;ExcessHet=0.0000;FS=6.130;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.64;ReadPosRankSum=-1.639e+00;SOR=1.380	GT:AD:DP:GQ:PL	0/1:49,29:78:99:766,0,1930	20	0	1	0
chr8	37849770	37849770	C	T	exonic	BRF2	.	nonsynonymous SNV	BRF2:NM_018310:exon1:c.G14A:p.G5D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.549	P	0.172	B	0.052	N	0.915	N	0.895	L	.	.	-1.047	T	0.057	T	0.358	3.688	18.74	6.07	2.884	2.035	10.604	0.090	0.000938575558447	.	0.000599042	2.228e-05	0	0	0	0	4.103e-05	0	0	3.23e-05	5	154602	rs143761460	2.058e-06	2.736e-06	4.095e-06	0	9e-07	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	9e-07	3.322e-05	0	2.625e-05	2.624e-05	1.284e-05	4.026e-05	5.878e-05	8.13e-06	5.13e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.878e-05	0	0	0.084	0.37966	T	0.2	0.38160	T	0.549	0.38101	P	0.172	0.35394	B	0.051940	0.22938	N	0.483231	0.915475	0.27413	N	1.39	0.34934	L	.	.	.	-0.15	0.25332	N	0.355	0.47022	-1.0470	0.15246	T	0.057	0.23828	T	9	0.054270178	0.05752	T	9.39E-4	0.00934	T	0.090	0.26093	.	.	0.644361271733	0.64141	0.47271221322474855	0.47190	0.286669972311	0.31060	0.486126124859	0.36902	T	0.008121	0.07471	T	-0.0535694	0.43903	T	-0.294454	0.45307	T	0.471762508153915	0.31595	T	0.824218	0.48580	T	0.13129869	0.30610	0.22854657	0.47900	0.13129869	0.30609	0.22854657	0.47899	-7.929	0.60586	D	.	.	0.111	0.23605	B	.;.;.	.;.;.	2.909784	0.38592	20.8	0.99158589066349179	0.54015	0.20732	0.21148	N	AEFGBHCIJ	0.173691	0.30079	N	-0.0652593658006497	0.38923	2.287265	0.0670322204903362	0.42903	2.603281	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	6.07	6.07	0.98675	2.258000	0.42905	3.955000	0.40703	0.599000	0.40250	0.011000	0.18532	0.983000	0.30585	0.995000	0.73285	0.0:0.8574:0.0:0.1426	10.604	0.44574	799	0.44747	Zinc finger, TFIIB-type;Zinc finger, TFIIB-type;Zinc finger, TFIIB-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	788.98	25	chr8	37849770	.	C	T	788.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.740e-01;DP=738;ExcessHet=0.0000;FS=3.141;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.79;ReadPosRankSum=1.32;SOR=0.286	GT:AD:DP:GQ:PL	0/1:14,28:42:99:803,0,384	20	0	1	0
chr8	38745477	38745477	A	G	exonic	TACC1	.	nonsynonymous SNV	TACC1:NM_001352786:exon3:c.A10G:p.I4V,	.	.	443	1076	3	0	0	3	0.00139211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	1.000	N	.	.	3.15	T	-0.933	T	0.012	T	0.049	-1.072	0.170	1.1	0.768	1.404	4.463	0.065	0.000692982713423	.	.	0.0003	0	0	0	0	0	0	0.0005	2.59e-05	4	154602	rs767937820	0.0001	0.0001	6.479e-05	0.0002	0.0012	0.0001	0.0001	0.0010	0.0009	6.79e-05	0	0	0	0	0.0007	0	6.654e-05	0.0012	7.221e-05	7.218e-05	5.138e-05	9.398e-05	0.0019	3.968e-05	3.125e-05	0.0010	0.0007	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0019	0.805	0.03077	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	0.16	0.05217	N	0.067	0.03956	-0.9331	0.43680	T	0.012	0.04605	T	7	0.012533307	0.00269	T	6.93E-4	0.00418	T	0.065	0.18881	0.105	0.01753	0.166414681773	0.16258	.	.	.	.	.	.	.	.	.	.	-0.653411	0.00069	T	-0.80527	0.01774	T	0.0207147323720273	0.00771	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	-3.097	0.11262	T	.	.	0.163	0.36053	B	.	.	-0.370060	0.02327	0.249	0.67919804452192356	0.08500	0.03542	0.08738	N	AEBI	0.058234	0.10912	N	-0.933999692170504	0.10054	0.4786633	-1.05103751521474	0.08685	0.4282629	0.992537984183785	0.32874	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	1.1	1.1	0.19578	1.399000	0.34175	0.339000	0.17362	0.587000	0.30956	0.002000	0.15269	0.000000	0.08366	0.004000	0.06068	1.0:0.0:0.0:0.0	4.463	0.11093	715	0.56137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1603.98	33	chr8	38745477	.	A	G	1603.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=783;ExcessHet=0.0000;FS=2.570;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.28;ReadPosRankSum=-1.312e+00;SOR=0.969	GT:AD:DP:GQ:PL	0/1:45,60:105:99:1618,0,970	20	0	1	0
chr8	47817561	47817561	C	T	exonic	PRKDC	.	nonsynonymous SNV	PRKDC:NM_001081640:exon68:c.G9446A:p.G3149D	Immunodeficiency 26, with or without neurologic abnormalities, Autosomal recessive	.	3	1451	65	3	0	71	0.0238816	.	.	457879	Malignant_tumor_of_breast|Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency|not_specified	MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0014423,MedGen:C4014833,OMIM:615966,Orphanet:317425|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.6	T	0.029	B	0.094	B	0.001	D	1.000	D	2.175	M	-0.4	T	-0.644	T	0.302	T	0.339	1.468	10.85	5.69	2.670	2.106	19.801	0.136	.	0.0036	0.00838658	0.0088	0.0056	0.0052	0	0	0.0055	0.0087	0.0272	0.0044631	690	154602	rs8178208	0.0037	0.0038	0.0031	0.0044	0.0248	0.0037	0.0036	0.0239	0.0235	0.0043	0.0030	0.0059	0.0001	5.729e-05	0.0210	0.0022	0.0053	0.0248	0.0039	0.0039	0.0037	0.0040	0.0251	0.0036	0.0035	0.0215	0.0201	0.0044	0	0.0026	0.0081	0.0002	9.446e-05	0.0136	0.0029	0.0066	0.0251	.	.	.	0.183	0.29153	T	0.029	0.19866	B	0.094	0.30180	B	0.000949	0.40932	D	0.217402	0.999991	0.58761	D	1.76	0.45711	L	.	.	.	.	.	.	0.169	0.17966	-0.6439	0.62979	T	0.302	0.67279	T	10	0.0056990087	0.00127	T	0.009362	0.24553	T	0.136	0.36778	.	.	0.474515700568	0.47080	0.34185097520819946	0.34098	0.257240741173	0.28296	0.47807687521	0.35791	T	0.077021	0.35556	T	-0.374624	0.03366	T	-0.293978	0.45356	T	0.012189863090418	0.00196	T	0.777822	0.41150	T	0.27504557	0.50569	0.21136695	0.45563	0.2726713	0.50336	0.29716197	0.55748	-3.016	0.12129	T	.	.	0.131	0.28319	B	.;.	.;.	2.214422	0.28255	17.74	0.9353510979718791	0.23359	0.85155	0.44264	D	AEFDBHCI	0.523992	0.54736	D	-0.08396049542195	0.38095	2.226033	0.0505750619888519	0.42099	2.540583	0.999999999834419	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	2.351000	0.43727	1.405000	0.26230	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.861000	0.40843	0.0:1.0:0.0:0.0	19.801	0.96506	612	0.66786	PIK-related kinase, FAT|PIK-related kinase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2566.11	34	chr8	47817561	.	C	T	2566.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.968;DP=839;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.26;ReadPosRankSum=0.302;SOR=0.715	GT:AD:DP:GQ:PL	0/1:43,43:86:99:1036,0,1063	19	0	2	0
chr8	47912529	47912529	T	C	exonic	PRKDC	.	nonsynonymous SNV	PRKDC:NM_001081640:exon25:c.A2815G:p.M939V	Immunodeficiency 26, with or without neurologic abnormalities, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	3377192	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.25	T	0.0	B	0.002	B	0.001	N	0.999	N	.	.	4.45	T	-1.000	T	0.139	T	0.261	0.959	8.914	3.61	0.525	0.877	8.857	0.018	0.00738489448078	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416883354	1.438e-05	1.505e-05	1.363e-05	1.514e-05	0.0003	9.24e-06	7.84e-06	6.094e-05	2.522e-05	0	0	0	5.052e-05	0	0.0003	1.53e-05	0	0	1.314e-05	1.313e-05	1.285e-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	0.392	0.10766	T	0.929	0.02795	T	0.0	0.02946	B	0.001	0.06944	B	0.000892	0.41231	N	0.260017	0.999286	0.21411	N	.	.	.	-0.09	0.64086	T	-0.54	0.16598	N	0.267	0.30233	-1.0000	0.29917	T	0.139	0.45659	T	9	0.09928271	0.18007	T	0.007385	0.19576	T	0.018	0.03083	0.301	0.26843	0.586411055958	0.58314	0.19461950259959948	0.19379	0.166489251295	0.18785	0.32978951931	0.14902	T	0.088447	0.38161	T	-0.1097	0.34817	T	-0.395353	0.33925	T	0.0665304884314537	0.08155	T	0.80242	0.45664	T	0.12614898	0.29554	0.22231704	0.47072	0.12614898	0.29554	0.22231704	0.47071	-0.442	0.00549	T	0.1032602123501858	0.07942	0.073	0.04599	B	.;.	.;.	1.097470	0.14815	11.35	0.86678517128698784	0.16698	0.62678	0.31854	D	AEFBI	0.083885	0.16997	N	-0.386099123139517	0.25963	1.413414	-0.268695095334449	0.29136	1.629961	0.0082917795310281	0.11648	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.94	3.61	0.40494	0.877000	0.27756	1.955000	0.29907	0.665000	0.62972	0.538000	0.27251	0.993000	0.31925	0.981000	0.58702	0.0:0.2732:0.0:0.7268	8.857	0.34392	542	0.72843	.;.	.	.	.	.	.	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	1386.98	33	chr8	47912529	.	T	C	1386.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.619;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=-1.230e-01;SOR=0.706	GT:AD:DP:GQ:PL	0/1:61,56:117:99:1401,0,1583	20	0	1	0
chr8	60742144	60742144	G	A	exonic	CHD7	.	nonsynonymous SNV	CHD7:NM_001316690:exon1:c.G712A:p.V238M	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	YES	0	1521	1	0	0	1	0.000328623	.	.	192487	CHARGE_syndrome|not_provided|not_specified	MONDO:MONDO:0008965,MedGen:C0265354,OMIM:214800,Orphanet:138|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.26	T	0.031	B	0.009	B	0.027	N	0.582	N	0.69	N	1.8	T	-0.544	T	0.327	T	0.147	1.273	10.16	3.91	1.027	3.342	10.974	0.030	0.0482758932149	0.0013	0.000798722	0.0004	0.0044	0.0002	0.0001	0	1.501e-05	0	0	0.0003428	53	154602	rs200898742	0.0001	0.0001	0.0001	0.0001	0.0042	0.0001	0.0001	0.0036	0.0034	0.0042	0.0004	0	0.0001	0	0.0002	6.296e-06	0.0003	0	0.0014	0.0014	0.0014	0.0015	0.0051	0.0013	0.0012	0.0045	0.0043	0.0051	0	0.0003	0	0	0	0	1.47e-05	0.0005	0	0.317	0.19710	T	0.225	0.25514	T	0.031	0.20130	B	0.009	0.14300	B	0.027050	0.25820	N	0.189493	0.605923	0.31094	N	0.695	0.17993	N	-1.76	0.83578	D	-0.16	0.09965	N	0.174	0.24010	-0.5444	0.66997	T	0.327	0.69487	T	10	0.0068236887	0.00155	T	0.048276	0.63300	D	0.030	0.07022	.	.	0.6380952546	0.63512	0.20411073365929738	0.20328	0.10325729537	0.11677	0.548598051071	0.45660	T	0.092886	0.39097	T	-0.38168	0.03040	T	-0.318422	0.42749	T	0.00975706392356496	0.00128	T	0.808919	0.48242	T	0.04297422	0.06616	0.035848856	0.02916	0.04297422	0.06616	0.035848856	0.02915	-2.925	0.09518	T	.	.	0.084	0.12084	B	.;.;.	.;.;.	2.320502	0.29716	18.21	0.95761404197805178	0.27752	0.83383	0.42504	D	AEFDGBCI	0.308933	0.41537	N	-0.237534991891463	0.31604	1.773792	-0.0654258728966093	0.36829	2.148432	0.999998885283044	0.74766	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.635551	0.53088	0	.	.	5.04	3.91	0.44383	3.424000	0.52524	5.701000	0.49379	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.1155:0.0:0.8845:0.0	10.974	0.46668	868	0.31772	.;.;.	.	.	.	.	.	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	2369.98	33	chr8	60742144	.	G	A	2369.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.540;DP=891;ExcessHet=0.0000;FS=4.448;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-1.588e+00;SOR=0.439	GT:AD:DP:GQ:PL	0/1:85,94:179:99:2384,0,2094	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	0/1:33,37,0:70:99:1658,0,1403,1666,1431,3128	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	0/1:33,37,0:70:99:1658,0,1403,1666,1431,3128	14	1	5	0
chr8	70681069	70681069	C	T	exonic	XKR9	.	nonsynonymous SNV	XKR9:NM_001011720:exon3:c.C11T:p.T4I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.96	D	0.001	D	0.990	D	1.845	L	.	.	-0.404	T	0.321	T	0.553	3.821	19.40	4.71	1.314	3.061	12.704	0.192	0.0072654162621	.	.	.	.	.	.	.	.	.	.	.	.	.	rs775529750	2.057e-06	2.052e-06	4.092e-06	0	0.0004	5.5e-07	1.5e-07	6.196e-05	2.56e-05	0	0	0	0	0	0.0004	0	0	1.163e-05	6.578e-06	6.569e-06	0	1.347e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.003	0.68238	D	0.007	0.92824	D	0.999	0.77913	D	0.96	0.70309	D	0.000771	0.41888	D	0.240860	0.990286	0.41126	D	2.3	0.65703	M	.	.	.	-2.32	0.62343	N	0.569	0.59223	-0.4043	0.71892	T	0.321	0.68995	T	9	0.26491135	0.43983	T	0.007265	0.19253	T	0.192	0.47115	0.317	0.29419	0.180583059064	0.17676	0.5999416851774617	0.59925	0.00630344529548	0.00551	0.58574450016	0.50896	T	0.137051	0.46978	T	-0.0295744	0.47480	T	-0.179628	0.56557	T	0.808377623558044	0.46932	D	0.666633	0.27564	T	0.096709475	0.22784	0.18751396	0.41987	0.096709475	0.22784	0.18751396	0.41986	-7.057	0.54449	T	.	.	0.501	0.64618	A	.;.;.	.;.;.	3.488401	0.48748	22.7	0.99881719928412638	0.95733	0.87859	0.47545	D	AEFGI	0.298045	0.40747	N	0.461027894784471	0.64832	4.746772	0.408580671793918	0.62098	4.419711	0.999928157412208	0.46280	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.61	4.71	0.59010	3.180000	0.50595	1.762000	0.28561	0.549000	0.26987	1.000000	0.71638	0.972000	0.29809	0.995000	0.73285	0.1651:0.8349:0.0:0.0	12.704	0.56421	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1198.98	45	chr8	70681069	.	C	T	1198.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.300e-02;DP=786;ExcessHet=0.0000;FS=4.817;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.45;ReadPosRankSum=-8.870e-01;SOR=0.325	GT:AD:DP:GQ:PL	0/1:38,45:83:99:1213,0,1042	20	0	1	0
chr8	72568126	72568126	T	C	exonic	KCNB2	.	nonsynonymous SNV	KCNB2:NM_004770:exon2:c.T392C:p.I131T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.982	D	0.93	D	.	.	1.000	D	-0.24	N	-0.97	T	-0.279	T	0.333	T	0.896	4.370	23.1	6.07	2.326	8.040	16.314	0.592	0.0551649391622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.005	0.72224	D	0.982	0.60036	D	0.93	0.66466	D	.	.	.	.	0.999995	0.58761	D	0.205	0.09354	N	-0.97	0.75670	T	-3.55	0.68764	D	0.86	0.85660	-0.2786	0.75579	T	0.333	0.70026	T	9	0.8193847	0.81153	D	0.055165	0.66132	D	0.592	0.83747	0.427	0.47350	0.909612759745	0.90871	0.76148700511481	0.76096	1.25690945348	0.81934	0.951684474945	0.99785	D	0.641842	0.89027	D	0.318427	0.84359	D	0.219622	0.84156	D	0.924446704382473	0.58562	D	0.920608	0.71304	D	0.28000912	0.51049	0.35322383	0.60888	0.28000912	0.51049	0.35322383	0.60887	-4.84	0.35053	T	.	.	0.998	0.97009	P	.	.	4.856204	0.79421	27.1	0.99855413978733831	0.93458	0.98167	0.80181	D	AEFI	0.921860	0.89597	D	0.53268574687625	0.69034	5.300113	0.635276251618612	0.77519	6.694933	0.999989729781648	0.51787	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	8.017000	0.88732	7.844000	0.70656	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.314	0.82741	953	0.10115	Potassium channel tetramerisation-type BTB domain|BTB/POZ 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	66.1	41	chr8	72568126	.	T	C	66.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.396e+00;DP=1116;ExcessHet=0.1072;FS=113.325;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.31;ReadPosRankSum=1.16;SOR=6.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,10:93:47:0|1:72568124_G_A:47,0,3138:72568124	19	0	2	0
chr8	72937418	72937418	A	G	exonic	KCNB2	.	nonsynonymous SNV	KCNB2:NM_004770:exon3:c.A2063G:p.H688R,	.	.	432	1024	60	5	1	71	0.03305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.579	P	0.288	B	0.447	N	1.000	N	0.69	N	2.16	T	-1.042	T	0.036	T	0.215	-0.716	0.922	2.15	0.250	1.190	7.771	0.031	.	0.0018	0.00579073	0.0060	0.0002	0.0014	0.0001	0.0002	0.0024	0.0077	0.0324	0.0052134	806	154602	rs148879809	0.0034	0.0034	0.0025	0.0043	0.0305	0.0033	0.0033	0.0295	0.0291	0.0001	0.0014	0.0093	7.558e-05	0.0003	0.0201	0.0014	0.0048	0.0305	0.0024	0.0024	0.0019	0.0030	0.0305	0.0022	0.0022	0.0265	0.0250	0.0002	0	0.0020	0.0098	0.0002	9.438e-05	0.0068	0.0020	0.0047	0.0305	0.167	0.23095	T	0.393	0.15355	T	0.579	0.38789	P	0.288	0.40614	B	0.447423	0.12550	N	0.645143	0.999796	0.20333	N	0.755	0.19153	N	2.16	0.19166	T	0.17	0.05125	N	0.194	0.21319	-1.0423	0.16621	T	0.036	0.15640	T	10	0.0031713843	0.00053	T	.	.	.	0.031	0.07369	.	.	0.449242652821	0.44546	0.2769550992391696	0.27608	0.678472507498	0.59887	0.326055109501	0.14337	T	0.072245	0.34406	T	-0.586394	0.00176	T	-0.592094	0.13486	T	0.0182838058385119	0.00547	T	0.329367	0.06881	T	0.031181686	0.02911	0.04825675	0.07130	0.031181686	0.02911	0.04825675	0.07129	-3.165	0.12058	T	.	.	0.066	0.02145	B	.	.	0.497220	0.08661	5.435	0.83565526180723326	0.14796	0.44910	0.27422	N	AEFBI	0.231181	0.35445	N	-0.568358184222436	0.19911	1.045796	-0.633352496499007	0.18638	0.996561	0.027996616103475	0.13806	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.564101	0.26826	0	.	.	4.65	2.15	0.26590	1.870000	0.39166	1.146000	0.24443	0.691000	0.84096	0.046000	0.21249	0.025000	0.21018	0.780000	0.36908	0.7174:0.1446:0.0:0.138	7.771	0.28173	849	0.35778	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	6278.68	34	chr8	72937418	.	A	G	6278.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.776;DP=1285;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=0.379;SOR=0.658	GT:AD:DP:GQ:PL	0/1:74,87:161:99:2263,0,2045	18	0	3	0
chr8	73067420	73067420	C	A	exonic	SBSPON	.	nonsynonymous SNV	SBSPON:NM_153225:exon5:c.G716T:p.R239L,	.	.	443	1078	1	0	0	1	0.000463607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.959	D	0.406	B	0.007	N	0.858	D	1.1	L	2.08	T	-1.052	T	0.037	T	0.534	3.810	19.35	4.19	1.539	0.618	5.970	0.113	0.00811571374245	0.0035	0.00119808	0.0023	0.0008	0.0018	0	0.0003	0.0033	0.0011	0.0011	0.0022445	347	154602	rs189764328	0.0035	0.0035	0.0035	0.0034	0.0041	0.0034	0.0034	0.0040	0.0040	0.0005	0.0023	0.0007	0	0.0005	0.0021	0.0041	0.0036	0.0012	0.0023	0.0023	0.0024	0.0022	0.0042	0.0021	0.0020	0.0033	0.0030	0.0009	0	0.0042	0.0009	0	0.0002	0	0.0035	0.0005	0.0008	0.207	0.19854	T	0.628	0.07244	T	0.959	0.55135	D	0.406	0.44683	B	0.006795	0.31798	N	0.309688	0.857506	0.35328	D	1.7	0.43825	L	2.08	0.20255	T	-3.5	0.68178	D	0.308	0.34767	-1.0524	0.13736	T	0.037	0.16160	T	10	0.009394914	0.00212	T	0.008116	0.21521	T	0.113	0.31778	.	.	0.363751660372	0.35992	0.5940992411801964	0.59339	0.489389826188	0.47706	0.344394654036	0.17094	T	0.089508	0.38387	T	-0.451554	0.01106	T	-0.423824	0.30638	T	0.0242701054191766	0.01180	T	0.906909	0.67118	D	0.2194924	0.44483	0.20048963	0.43983	0.2194924	0.44483	0.20048963	0.43982	-8.171	0.62229	D	.	.	0.120	0.24934	B	.	.	3.679325	0.52360	23.2	0.99694817158280147	0.80180	0.62166	0.31700	D	AEFI	0.401326	0.47586	N	0.118477295643237	0.47325	2.959808	0.159171282193398	0.47631	2.99037	0.0307655024252401	0.13963	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.99	4.19	0.48645	0.831000	0.27129	3.221000	0.36854	0.599000	0.40250	0.529000	0.27181	1.000000	0.68203	0.998000	0.85391	0.0:0.6409:0.1419:0.2172	5.970	0.18581	952	0.10565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1949.11	33	chr8	73067420	.	C	A	1949.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.33;DP=841;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=0.057;SOR=0.715	GT:AD:DP:GQ:PL	0/1:61,53:114:99:1159,0,1325	19	0	2	0
chr8	76704578	76704578	G	A	exonic	ZFHX4	.	nonsynonymous SNV	ZFHX4:NM_024721:exon2:c.G490A:p.A164T,	.	.	.	.	.	.	.	.	.	.	.	711633	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.976	D	0.677	P	0.000	U	1.000	D	0.895	L	1.4	T	-1.098	T	0.111	T	0.651	2.318	13.71	5.42	2.821	5.886	19.416	0.127	0.00939909704251	0.0014	0.00119808	0.0012	0.0004	0.0008	0	0.0002	0.0020	0.0011	0	0.001326	205	154602	rs147642461	0.0020	0.0020	0.0020	0.0019	0.0024	0.0019	0.0019	0.0023	0.0023	0.0003	0.0013	0.0010	0	0.0005	0.0005	0.0024	0.0015	2.319e-05	0.0014	0.0014	0.0016	0.0011	0.0023	0.0012	0.0012	0.0020	0.0019	0.0006	0	0.0011	0.0017	0	0.0005	0	0.0023	0.0005	0	0.081	0.33753	T	0.224	0.25591	T	.	.	.	.	.	.	0.000484	0.43931	U	0.000000	0.999995	0.58761	D	0.345	0.11182	N	1.4	0.33630	T	-1.84	0.43149	N	0.777	0.77413	-1.0982	0.04315	T	0.111	0.39982	T	10	0.012676746	0.00271	T	0.009399	0.24646	T	0.127	0.34888	.	.	0.204265027416	0.20035	0.489337638856439	0.48853	0.460900775349	0.45645	0.543142080307	0.44890	T	.	.	.	-0.348495	0.04823	T	-0.277356	0.47075	T	0.0303455218929677	0.02043	T	0.850115	0.53399	D	.	.	.	.	.	.	.	.	-4.094	0.25201	T	.	.	0.092	0.13550	B	.;.;.	.;.;.	3.902515	0.56852	23.8	0.9887355204090571	0.47684	0.94250	0.60572	D	AEFBI	0.689107	0.64989	D	0.448998656766669	0.64146	4.662722	0.526818821751887	0.69800	5.412436	0.999999962826747	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.42	5.42	0.78666	4.970000	0.63456	5.705000	0.49397	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	19.416	0.94691	856	0.34373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1923.98	35	chr8	76704578	.	G	A	1923.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.211e+00;DP=850;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.58;ReadPosRankSum=-4.970e-01;SOR=0.671	GT:AD:DP:GQ:PL	0/1:80,73:153:99:1938,0,2288	20	0	1	0
chr8	80486896	80486896	A	C	exonic	ZBTB10	.	nonsynonymous SNV	ZBTB10:NM_001105539:exon1:c.A86C:p.N29T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.334	B	0.044	B	.	.	1.000	N	0.345	N	2.69	T	-1.005	T	0.018	T	0.131	1.498	10.96	1.97	0.882	0.899	6.236	0.033	0.408681098997	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1031094591	3.666e-06	4.104e-06	4.339e-06	2.974e-06	0.0002	1.07e-06	7.8e-07	5.949e-05	3.824e-05	0	0.0002	0	0	0	0	0	0	0	6.616e-06	6.583e-06	0	1.354e-05	6.567e-05	0	0	.	.	0	0	6.567e-05	0	0	0	0	0	0	0	0.004	0.65419	D	0.562	0.09052	T	0.225	0.33305	B	0.02	0.24394	B	.	.	.	.	1	0.81001	D	0	0.06538	N	2.69	0.12780	T	-0.34	0.12661	N	0.178	0.46555	-1.0047	0.28547	T	0.018	0.07376	T	9	0.0774242	0.12217	T	0.408681	0.93551	D	0.033	0.08068	0.133	0.03747	0.043077524339	0.03247	0.0708846647495367	0.07025	1.65793547036	0.89633	0.918770313263	0.98228	D	0.005573	0.05022	T	-0.447559	0.01167	T	-0.625618	0.10749	T	0.165041752788535	0.18236	T	0.556544	0.19325	T	0.1238175	0.29065	0.12955898	0.31149	0.1238175	0.29064	0.12955898	0.31148	-4.383	0.29326	T	.	.	0.128	0.48240	B	.;.;.	.;.;.	2.522140	0.32594	19.09	0.96559550085068735	0.30254	0.31910	0.24455	N	ALL	0.075870	0.15248	N	-0.459627297981671	0.23415	1.257244	-0.387785754187871	0.25360	1.39417	0.999999839264869	0.74766	0.56387	0.32371	0	0.218748	0.04544	0	0.503968	0.08637	0	0.621717	0.48901	0	.	.	1.97	1.97	0.25278	1.913000	0.39587	10.127000	0.83216	0.493000	0.22426	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.7444:0.2556:0.0:0.0	6.236	0.19971	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	1	0	0	0	0.02381	321.98	39	chr8	80486896	.	A	C	321.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.084e+00;DP=694;ExcessHet=0.0000;FS=5.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.06;ReadPosRankSum=-1.654e+00;SOR=0.169	GT:AD:DP:GQ:PL	0/1:18,14:32:99:336,0,567	20	0	1	0
chr8	102560795	102560803	AGCCCCTGC	0	exonic	ODF1	.	.	.	.	.	430	603	23	0	466	489	0.0187144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	1772.07	37	chr8	102560795	.	AGCCCCTGC	A,*	1772.07	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=-7.460e-01;DP=2088;ExcessHet=5.0238;FS=4.266;InbreedingCoeff=-0.2250;MLEAC=1,8;MLEAF=0.025,0.200;MQ=60.00;MQRankSum=0.00;QD=1.43;ReadPosRankSum=1.05;SOR=1.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:92,0,47:139:99:1|0:102560764_C_G:1740,2006,5915,0,3852,3696:102560764	11	0	1	1
chr8	102560798	102560798	C	0	exonic	ODF1	.	.	.	.	.	436	601	16	0	469	485	0.0131363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	2579.11	37	chr8	102560798	.	C	A,*	2579.11	.	AC=2,8;AF=0.053,0.211;AN=38;BaseQRankSum=0.124;DP=2095;ExcessHet=6.5132;FS=3.341;InbreedingCoeff=-0.2972;MLEAC=2,9;MLEAF=0.053,0.237;MQ=60.00;MQRankSum=0.00;QD=1.88;ReadPosRankSum=-3.220e-01;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:92,0,47:139:99:1|0:102560764_C_G:1740,2006,5915,0,3852,3696:102560764	9	0	2	2
chr8	102560804	102560814	AACCCGTGCAG	0	exonic	ODF1	.	.	.	.	.	433	610	23	0	456	479	0.0185036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	1772.07	37	chr8	102560804	.	AACCCGTGCAG	A,*	1772.07	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=-9.630e-01;DP=1919;ExcessHet=5.0238;FS=4.266;InbreedingCoeff=-0.2250;MLEAC=1,8;MLEAF=0.025,0.200;MQ=60.00;MQRankSum=0.00;QD=1.43;ReadPosRankSum=0.936;SOR=0.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:92,0,47:139:99:1|0:102560764_C_G:1740,2006,5915,0,3852,3696:102560764	11	0	1	1
chr8	106769856	106769856	G	A	exonic	ABRA	.	nonsynonymous SNV	ABRA:NM_139166:exon1:c.C335T:p.T112M,	.	.	431	1088	3	0	0	3	0.00137678	.	.	2359143	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.947	D	0.000	D	1.000	D	2.045	M	-3.21	D	0.932	D	0.870	D	0.544	3.763	19.11	5.18	1.538	7.582	17.241	0.586	0.213023845036	7.7e-05	.	7.413e-05	0.0004	8.637e-05	0.0001	0	4.495e-05	0	0	6.47e-05	10	154602	rs113926734	7.046e-05	7.046e-05	6.67e-05	7.425e-05	0.0005	5.913e-05	5.522e-05	0.0003	0.0002	0.0005	8.944e-05	0	0	0	0.0002	6.834e-05	8.279e-05	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0004	8.665e-05	7.257e-05	0.0003	0.0002	0.0004	0	0	0	0	0	0	4.41e-05	0	0	0.001	0.78490	D	0.053	0.47336	T	1.0	0.90584	D	0.947	0.68407	D	0.000000	0.84330	D	0.045225	0.999929	0.51308	D	2.75	0.80375	M	-3.21	0.93291	D	-2.0	0.46146	N	0.573	0.59563	0.932	0.96130	D	0.870	0.95691	D	10	0.58043617	0.65819	D	0.213024	0.87385	D	0.586	0.83416	.	.	0.993737720265	0.99366	0.41654390937028835	0.41570	0.389022359252	0.40154	0.408901184797	0.26305	T	0.239917	0.60814	T	-0.0388789	0.46116	T	0.0491077	0.73525	D	0.344168066978455	0.26789	T	0.889911	0.62289	D	0.26576874	0.49647	0.31125256	0.57132	0.26576874	0.49646	0.31125256	0.57131	-4.789	0.34463	T	.	.	0.137	0.29995	B	.	.	4.783572	0.77554	26.7	0.99897857875503826	0.97048	0.98922	0.88667	D	AEFDBI	0.926872	0.90865	D	0.697106997510344	0.79441	7.078549	0.66782984460086	0.79944	7.190869	0.999999990044651	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	6.07	5.18	0.71140	7.707000	0.83595	9.669000	0.81214	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.1258:0.8742:0.0	17.241	0.86897	641	0.64016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4231.98	34	chr8	106769856	.	G	A	4231.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.150e-01;DP=1086;ExcessHet=0.0000;FS=1.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.40;ReadPosRankSum=-1.589e+00;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,116:230:99:0|1:106769837_A_G:4246,0,4292:106769837	20	0	1	0
chr8	122953840	122953840	G	A	exonic	ZHX2	.	nonsynonymous SNV	ZHX2:NM_014943:exon3:c.G2330A:p.R777Q	.	.	.	.	.	.	.	.	.	.	.	2424609	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.6	T	0.0	B	0.001	B	0.064	N	0.876	N	-0.205	N	2.3	T	-0.983	T	0.016	T	0.141	2.132	13.08	3.08	0.817	0.958	6.061	0.015	0.00438350041404	0.0002	0.000199681	0.0002	0.0013	8.649e-05	0	0	7.505e-05	0	0	0.0001294	20	154602	rs150252730	6.567e-05	6.567e-05	6.126e-05	7.013e-05	0.0013	5.495e-05	5.107e-05	0.0010	0.0009	0.0013	6.708e-05	0	0.0003	0	0.0002	2.518e-05	6.623e-05	5.797e-05	0.0003	0.0003	0.0003	0.0003	0.0011	0.0002	0.0002	0.0008	0.0007	0.0011	0	0.0001	0	0	0	0	1.47e-05	0.0005	0	0.651	0.04832	T	0.538	0.09829	T	0.0	0.02946	B	0.001	0.04355	B	0.064155	0.21973	N	0.451184	0.875976	0.28130	N	0.895	0.22405	L	2.3	0.16953	T	0.64	0.02368	N	0.098	0.07949	-0.9833	0.34234	T	0.016	0.06521	T	10	0.01003927	0.00225	T	0.004384	0.10687	T	0.015	0.02232	.	.	0.212008924253	0.20833	0.10155899677793598	0.10086	0.306489444402	0.32949	0.246095091105	0.03367	T	0.025516	0.19064	T	-0.56404	0.00240	T	-0.639329	0.09718	T	0.025061833695462	0.01281	T	0.692831	0.30243	T	0.022075128	0.00847	0.03220373	0.01920	0.022075128	0.00846	0.03220373	0.01920	-3.209	0.12591	T	.	.	0.069	0.03128	B	.	.	2.012407	0.25571	16.81	0.98619338343076235	0.43758	0.62423	0.31777	D	AEFDGBI	0.131393	0.25030	N	-0.522155614575741	0.21365	1.13329	-0.29752891651173	0.28180	1.569135	0.999981814379736	0.51787	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.83	3.08	0.34576	2.855000	0.48032	1.723000	0.28273	0.672000	0.70159	1.000000	0.71638	0.981000	0.30433	0.963000	0.52385	0.4511:0.0:0.5489:0.0	6.061	0.19060	950	0.11238	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2696.98	33	chr8	122953840	.	G	A	2696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=1622;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.58;ReadPosRankSum=0.626;SOR=0.718	GT:AD:DP:GQ:PL	0/1:86,99:185:99:2711,0,2095	20	0	1	0
chr8	124543125	124543125	G	T	exonic	NDUFB9	.	nonsynonymous SNV	NDUFB9:NM_001278646:exon2:c.G11T:p.R4L	.	.	.	.	.	.	.	.	.	.	.	711278	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.999	D	0.000	D	1.000	D	1.545	L	-0.39	T	-0.319	T	0.285	T	0.947	5.060	31	5.46	2.559	9.295	19.319	0.735	.	0.0025	0.00439297	0.0008	0.0088	0.0004	0	0	0	0.0022	6.056e-05	0.0008797	136	154602	rs142723791	0.0003	0.0003	0.0004	0.0003	0.0114	0.0003	0.0003	0.0105	0.0101	0.0114	0.0005	0	0	0	0.0014	3.597e-06	0.0008	9.275e-05	0.0026	0.0027	0.0028	0.0025	0.0089	0.0024	0.0023	0.0081	0.0078	0.0089	0	0.0018	0	0	0	0	2.94e-05	0.0024	0	0.001	0.78490	D	0.047	0.53426	D	0.913	0.50474	P	0.876	0.62173	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.45	0.71042	M	-0.39	0.73205	T	-5.51	0.87457	D	0.932	0.93723	-0.3192	0.74444	T	0.285	0.65675	T	10	0.016181588	0.00340	T	.	.	.	0.735	0.90764	.	.	0.912166790898	0.91129	0.7996184900154354	0.79915	0.732811853976	0.62809	0.593811333179	0.52031	T	0.223477	0.58764	T	0.0460576	0.57836	T	0.300063	0.88202	D	0.0520025286031478	0.05848	T	0.953105	0.82105	D	0.7960264	0.83653	0.816585	0.89320	0.83331764	0.86136	0.8567943	0.91962	-7.202	0.55496	T	0.537451207907817	0.60752	0.659	0.71290	P	.;.;.;.	.;.;.;.	5.118152	0.85593	28.6	0.99861054249628745	0.93911	0.97383	0.74401	D	AEFGBHCI	0.962227	0.98375	D	0.760568749831468	0.83592	8.05785	0.780478454418101	0.88404	9.569613	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	5.46	0.80021	9.486000	0.96912	5.864000	0.50463	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.319	0.94219	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	1136.98	35	chr8	124543125	.	G	T	1136.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.10;DP=798;ExcessHet=0.0000;FS=7.211;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=-3.300e-01;SOR=1.472	GT:AD:DP:GQ:PL	0/1:49,40:89:99:1151,0,1097	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	0/1:120,42:162:11:11,0,1799	7	0	7	7
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	1/1:0,58,0:58:99:2531,175,0,2531,175,2531	0	17	0	0
chr8	143866916	143866916	C	T	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.G6338A:p.G2113E,	.	.	9	1508	5	0	0	5	0.00165508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.999	D	0.986	D	.	.	0.978	D	2.49	M	-0.63	T	-0.174	T	0.487	T	0.694	4.011	20.6	4.39	2.270	3.665	14.507	0.574	0.0174385144651	7.9e-05	.	4.155e-05	0	8.645e-05	0	0	4.519e-05	0	6.056e-05	3.88e-05	6	154602	rs370476982	5.682e-05	5.678e-05	4.495e-05	6.881e-05	0.0005	4.68e-05	4.304e-05	0.0001	7.541e-05	0	0.0001	0	0	0	0.0005	5.756e-05	9.94e-05	5.797e-05	5.256e-05	5.253e-05	3.854e-05	6.724e-05	8.818e-05	2.557e-05	1.83e-05	3.761e-05	2.574e-05	2.413e-05	0	6.542e-05	0	0	0	0	8.818e-05	0	0	.	.	.	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	0.977528	0.39375	D	2.63	0.76995	M	.	.	.	.	.	.	0.277	0.31365	-0.1742	0.78326	T	0.487	0.80491	T	9	0.279162	0.45488	T	0.017439	0.39139	T	.	.	.	.	0.607054019504	0.60390	0.5599932224476786	0.55926	.	.	0.515493273735	0.40993	T	0.438698	0.78426	T	0.0155995	0.53786	T	-0.0108183	0.69630	D	0.585846424102783	0.35844	D	0.553245	0.19112	T	0.38573444	0.59728	0.32700732	0.58602	0.38573444	0.59728	0.32700732	0.58601	-11.184	0.80658	D	.	.	0.958	0.87827	P	.;.	.;.	3.401085	0.47136	22.4	0.99288330465668151	0.58184	0.97710	0.76577	D	AEFDGBI	0.432974	0.49463	N	0.217877457421226	0.52066	3.383209	0.0787439638717727	0.43481	2.648978	0.999999968885196	0.74766	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.39	4.39	0.52211	3.981000	0.56611	.	.	0.549000	0.26987	0.998000	0.41325	0.522000	0.25315	0.008000	0.08271	0.0:1.0:0.0:0.0	14.507	0.67342	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	0	0	0	0	0.07143	9587.66	35	chr8	143866916	.	C	T	9587.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.057;DP=1318;ExcessHet=0.0000;FS=2.673;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.66;ReadPosRankSum=-9.080e-01;SOR=0.945	GT:AD:DP:GQ:PL	0/1:148,115:263:99:2923,0,3966	19	1	1	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	10566.34	45	chr9	117371	.	C	G,*	10566.34	.	AC=21,5;AF=0.500,0.119;AN=42;BaseQRankSum=1.69;DP=683;ExcessHet=1.5101;FS=0.547;InbreedingCoeff=-0.0096;MLEAC=21,5;MLEAF=0.500,0.119;MQ=45.38;MQRankSum=-4.449e+00;QD=18.70;ReadPosRankSum=-5.950e-01;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:12,21,0:33:99:.:.:652,0,311,688,374,1062	3	5	9	0
chr9	376220	376220	T	C	exonic	DOCK8	.	nonsynonymous SNV	DOCK8:NM_001190458:exon18:c.T1916C:p.L639S	Hyper-IgE recurrent infection syndrome, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.002	B	0.009	B	0.662	N	1.000	N	0.895	L	2.57	T	-0.966	T	0.027	T	0.105	2.054	12.83	2.15	0.976	0.026	3.925	0.048	0.00933140909121	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.736	0.91255	T	0.174	0.30045	T	0.002	0.09854	B	0.006	0.14300	B	0.662101	0.05986	N	1.163400	1	0.08975	N	1.06	0.26948	L	1.64	0.27822	T	0.8	0.80340	N	0.122	0.14196	-0.9658	0.38053	T	0.027	0.11397	T	10	0.044857055	0.03490	T	0.009331	0.24483	T	0.048	0.13305	0.41	0.44559	0.163833314356	0.15978	0.2176655491104972	0.21682	0.0539975230124	0.05968	0.320022284985	0.13425	T	0.140199	0.47462	T	-0.235782	0.15892	T	-0.576461	0.14863	T	0.400921046733856	0.28976	T	0.70223	0.31478	T	0.061121058	0.12621	0.07885388	0.17700	0.061121058	0.12621	0.07885388	0.17700	-4.114	0.25658	T	0.08683673896985677	0.05039	0.076	0.13969	B	.;.;.;.;.	.;.;.;.;.	1.417218	0.18337	13.68	0.99153989874401915	0.53903	0.07231	0.13255	N	AEFDBHCI	0.063051	0.12159	N	-0.696493296025553	0.16122	0.8185776	-0.58113783801355	0.19985	1.074729	0.986579321725142	0.31087	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.66	2.15	0.26590	0.201000	0.17074	0.801000	0.21659	0.665000	0.62972	0.000000	0.06391	0.073000	0.22253	0.993000	0.69303	0.0:0.298:0.1858:0.5163	3.925	0.08759	807	0.43470	DHR-1 domain|DHR-1 domain|Dedicator of cytokinesis C, C2 domain;.;.;.;DHR-1 domain|DHR-1 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	986.98	37	chr9	376220	.	T	C	986.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=-2.419e+00;SOR=0.695	GT:AD:DP:GQ:PL	0/1:51,39:90:99:1001,0,1312	20	0	1	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|1:106,16:122:25:0|1:13168390_T_C:25,0,3666:13168390	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|1:106,16:122:25:0|1:13168390_T_C:25,0,3666:13168390	16	0	5	0
chr9	15447193	15447193	T	G	exonic	SNAPC3	.	nonsynonymous SNV	SNAPC3:NM_001039697:exon5:c.T681G:p.I227M	.	.	435	1083	4	0	0	4	0.00184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.999	D	0.959	D	0.000	D	0.993	D	1.405	L	0.94	T	-1.008	T	0.101	T	0.263	3.378	17.39	0.9	-0.080	-0.133	4.463	0.119	0.0074916883307	0.0068	0.00119808	0.0061	0.0019	0.0017	0	0.0048	0.0097	0	0.0013	0.0058796	909	154602	rs41311434	0.0078	0.0078	0.0081	0.0075	0.0092	0.0077	0.0076	0.0090	0.0090	0.0010	0.0025	0.0067	0	0.0052	0.0038	0.0092	0.0072	0.0018	0.0050	0.0050	0.0052	0.0047	0.0082	0.0047	0.0046	0.0076	0.0074	0.0016	0	0.0031	0.0049	0.0002	0.0051	0.0034	0.0082	0.0043	0.0017	0.015	0.61437	D	0.043	0.49942	D	0.999	0.77913	D	0.959	0.70163	D	0.000001	0.84330	D	0.054861	0.992925	0.41783	D	1.775	0.45938	L	0.94	0.43672	T	-1.42	0.35991	N	0.354	0.43803	-1.0081	0.27510	T	0.101	0.37468	T	10	0.010859907	0.00240	T	0.007492	0.19872	T	0.119	0.33137	.	.	0.575045364607	0.57173	0.5656233446355885	0.56489	0.0501188400719	0.05501	0.543514668941	0.44942	T	0.014628	0.15839	T	-0.512292	0.00487	T	-0.498261	0.22528	T	0.0267628031153573	0.01511	T	0.817618	0.51273	T	0.19270617	0.40950	0.21062031	0.45456	0.19270617	0.40950	0.21062031	0.45455	-7.256	0.55882	T	.	.	0.086	0.10594	B	.;.;.	.;.;.	2.243941	0.28660	17.87	0.99549664380186964	0.71086	0.76550	0.37552	D	AEFBI	0.148454	0.27234	N	0.144649808540918	0.48559	3.066699	0.100204482666835	0.44560	2.735372	0.0415969301697813	0.14490	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.99	0.9	0.18410	-0.096000	0.11027	-0.295000	0.10161	0.665000	0.62972	0.938000	0.32564	0.164000	0.23286	0.995000	0.73285	0.2208:0.1911:0.0:0.588	4.463	0.11097	559	0.71409	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3030.11	35	chr9	15447193	.	T	G	3030.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.11;DP=889;ExcessHet=0.1072;FS=1.597;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=0.413;SOR=0.832	GT:AD:DP:GQ:PL	0/1:58,60:118:99:1436,0,1580	19	0	2	0
chr9	16738425	16738425	T	C	exonic	BNC2	.	nonsynonymous SNV	BNC2:NM_017637:exon2:c.A64G:p.S22G,	.	.	.	.	.	.	.	.	.	.	.	2095540	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.91	T	0.137	B	0.015	B	0.706	N	1.000	N	0	N	3.83	T	-0.926	T	0.005	T	0.114	1.882	12.25	1.16	0.225	-0.321	2.494	0.029	0.00234129457469	0.0008	0.000399361	0.0001	0.0017	0	0	0	0	0	0	0.0001229	19	154602	rs79395563	4.789e-05	4.788e-05	5.309e-05	4.263e-05	0.0017	3.86e-05	3.54e-05	0.0013	0.0012	0.0017	0	0	0	0	0.0007	0	0.0001	0	0.0003	0.0003	0.0004	0.0003	0.0013	0.0003	0.0002	0.0010	0.0009	0.0013	0	0	0	0	0	0	0	0.0005	0	0.712	0.04020	T	0.777	0.04372	T	0.043	0.21573	B	0.007	0.12992	B	0.705936	0.10054	N	0.836981	1	0.08975	N	0	0.06538	N	3.83	0.03702	T	-0.23	0.15578	N	0.159	0.19190	-0.9259	0.44730	T	0.005	0.01578	T	10	0.0037554502	0.00070	T	0.002341	0.04535	T	0.029	0.06676	.	.	0.043077524339	0.03247	0.04027998661345282	0.03973	0.0241015122764	0.02450	0.264336109161	0.05419	T	0.044627	0.26872	T	-0.650771	0.00072	T	-0.726578	0.04484	T	0.00617536609023547	0.00068	T	0.579042	0.22137	T	0.0328609	0.03392	0.030576633	0.01530	0.0328609	0.03391	0.030576633	0.01530	-4.015	0.24027	T	.	.	0.070	0.03515	B	.;.	.;.	0.530655	0.08992	5.775	0.80046989221171383	0.13020	0.02249	0.06516	N	AEFBI	0.060083	0.11394	N	-1.08042574976096	0.07005	0.324108	-1.02496449833351	0.09238	0.4584467	0.809185866722537	0.24324	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	3.6	1.16	0.19936	-0.334000	0.07927	0.105000	0.14702	0.605000	0.46263	0.000000	0.06391	0.004000	0.18990	0.995000	0.73285	0.2346:0.1344:0.0:0.631	2.494	0.04335	727	0.54702	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	789.98	41	chr9	16738425	.	T	C	789.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.00;DP=890;ExcessHet=0.0000;FS=2.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=0.911;SOR=0.439	GT:AD:DP:GQ:PL	0/1:37,29:66:99:804,0,992	20	0	1	0
chr9	34125238	34125238	G	T	exonic	DCAF12	.	nonsynonymous SNV	DCAF12:NM_015397:exon2:c.C118A:p.P40T,	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.722	P	0.164	B	0.000	D	0.996	D	1.59	L	2.25	T	-0.893	T	0.154	T	0.442	2.617	14.71	4.76	2.477	3.481	17.975	0.073	0.00968864494655	0.0002	.	3.296e-05	0	0	0	0	5.996e-05	0	0	2.59e-05	4	154602	rs148043008	1.3e-05	1.3e-05	1.361e-05	1.238e-05	1.159e-05	8.31e-06	6.7e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.993e-06	0.0001	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.32769	T	0.302	0.41742	T	0.722	0.42387	P	0.164	0.34953	B	0.000041	0.53742	D	0.128266	0.996372	0.43168	D	2.11	0.58565	M	2.25	0.58897	T	-1.41	0.36980	N	0.589	0.60918	-0.8928	0.48687	T	0.154	0.48360	T	10	0.21749201	0.38362	T	0.009689	0.25313	T	0.073	0.21317	.	.	0.694796907843	0.69217	0.23297011220060498	0.23212	0.539017869992	0.51144	0.66483938694	0.62101	T	0.007756	0.09270	T	-0.117139	0.33592	T	-0.275587	0.47255	T	0.298669815063477	0.24949	T	0.731927	0.38041	T	0.19896245	0.41817	0.14385211	0.34173	0.19896245	0.41817	0.14385211	0.34172	-3.777	0.20461	T	.	.	0.138	0.30238	B	.;.;.	.;.;.	4.081875	0.60724	24.3	0.98345768985101079	0.40487	0.93814	0.59268	D	AEFDGBCIJ	0.540580	0.55708	D	0.200029018372903	0.51200	3.303278	0.287063162852479	0.54782	3.642373	0.999999997774023	0.74766	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.657601	0.63696	0	.	.	4.76	4.76	0.60189	3.559000	0.53501	11.838000	0.97738	0.649000	0.52879	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.975	0.89046	401	0.82673	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	857.98	34	chr9	34125238	.	G	T	857.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.402e+00;DP=786;ExcessHet=0.0000;FS=0.842;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=2.19;SOR=0.592	GT:AD:DP:GQ:PL	0/1:48,35:83:99:872,0,1314	20	0	1	0
chr9	34311155	34311155	C	A	exonic	KIF24	.	nonsynonymous SNV	KIF24:NM_194313:exon2:c.G192T:p.M64I,	.	.	438	1082	2	0	0	2	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.794	P	0.31	B	0.000	D	0.964	D	0.345	N	2.24	T	-1.055	T	0.032	T	0.387	4.231	22.0	5.48	2.585	1.460	19.350	0.099	0.0121244190231	8.3e-05	.	5.107e-05	0	0	0	0	9.238e-05	0	0	3.88e-05	6	154602	rs377689498	1.3e-05	1.3e-05	1.226e-05	1.376e-05	1.08e-05	8.32e-06	6.7e-06	5.76e-06	4.55e-06	0	0	0	0	0	0	1.08e-05	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.207	0.28669	T	0.69	0.41631	P	0.164	0.34953	B	0.000164	0.48594	D	0.000000	0.866851	0.38395	D	0.55	0.14455	N	2.24	0.17923	T	-1.64	0.42575	N	0.272	0.35938	-1.0550	0.13040	T	0.032	0.13548	T	10	0.14586878	0.27663	T	0.012124	0.30406	T	0.099	0.28413	0.386	0.40624	0.389126455913	0.38528	0.23416050796168225	0.23331	.	.	0.573029637337	0.49106	T	0.009732	0.08837	T	-0.276701	0.11020	T	-0.449335	0.27770	T	0.16888204840963	0.18504	T	0.878612	0.59406	D	0.4084284	0.61312	0.33038193	0.58908	0.4084284	0.61312	0.33038193	0.58907	-3.532	0.16883	T	.	.	0.582	0.72136	P	.;.	.;.	3.201973	0.43545	21.8	0.99770101866998884	0.85834	0.73779	0.36088	D	AEFBCI	0.238040	0.36023	N	0.108368312040844	0.46854	2.919399	0.249554644762116	0.52625	3.436025	0.999999999942524	0.74766	0.615465	0.37627	0	0.546412	0.12157	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.48	5.48	0.80675	1.714000	0.37580	5.915000	0.51078	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	19.350	0.94368	227	0.91186	Sterile alpha motif 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	1568.98	46	chr9	34311155	.	C	A	1568.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.247e+00;DP=924;ExcessHet=0.0000;FS=5.103;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=-6.680e-01;SOR=0.463	GT:AD:DP:GQ:PL	0/1:79,61:140:99:1583,0,2268	20	0	1	0
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	1/5:0,25,0,0,0,31:56:99:.:.:2184,1238,1271,2202,1298,2251,2202,1298,2251,2251,2202,1298,2251,2251,2251,963,0,970,970,970,872	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	1/5:0,25,0,0,0,31:56:99:.:.:2184,1238,1271,2202,1298,2251,2202,1298,2251,2251,2202,1298,2251,2251,2251,963,0,970,970,970,872	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	1/5:0,25,0,0,0,31:56:99:.:.:2184,1238,1271,2202,1298,2251,2202,1298,2251,2251,2202,1298,2251,2251,2251,963,0,970,970,970,872	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	1/5:0,25,0,0,0,31:56:99:.:.:2184,1238,1271,2202,1298,2251,2202,1298,2251,2251,2202,1298,2251,2251,2251,963,0,970,970,970,872	13	1	1	0
chr9	38068210	38068210	C	T	exonic	SHB	.	nonsynonymous SNV	SHB:NM_003028:exon1:c.G436A:p.A146T,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.602	P	0.108	B	0.010	N	0.591	N	-0.345	N	0.8	T	-1.089	T	0.009	T	0.297	3.124	16.44	4.33	2.132	1.593	8.605	0.094	.	0.0010	0.0119808	0.0221	0	0.2604	0.0396	0.0172	0.0067	0	0.0016	0.0059443	919	154602	rs78289037	0.0015	0.0029	0.0017	0.0014	0.0898	0.0015	0.0015	0.0852	0.0834	0.0008	0.0898	5.723e-05	0.0140	0.0023	0.0003	0.0002	0.0029	0.0007	0.0066	0.0066	0.0059	0.0074	0.0527	0.0063	0.0062	0.0497	0.0485	0.0015	0	0.0527	0	0.0146	0.0016	0	0.0004	0.0104	0.0002	0.262	0.16466	T	0.597	0.08025	T	0.602	0.39365	P	0.108	0.31289	B	0.010275	0.29994	N	0.145679	0.590744	0.31022	N	-0.345	0.03330	N	0.8	0.48769	T	-0.41	0.14000	N	0.312	0.35194	-1.0893	0.05650	T	0.009	0.03140	T	10	0.0015110373	0.00017	T	.	.	.	0.094	0.27141	.	.	.	.	0.2964938560667452	0.29562	0.274717075543	0.29960	0.846139371395	0.89030	D	0.099542	0.40446	T	-0.587385	0.00174	T	-0.472694	0.25225	T	0.026187886073335	0.01432	T	0.543646	0.18539	T	0.10496869	0.24816	0.08856218	0.20656	0.10496869	0.24816	0.08856218	0.20655	-5.432	0.41226	T	.	.	0.086	0.10642	B	.	.	2.284466	0.29215	18.05	0.99554262941209659	0.71335	0.63984	0.32261	D	AEFDBHCI	0.232005	0.35515	N	-0.224509546081326	0.32131	1.808769	-0.0872916278380964	0.35914	2.083562	0.999999997311718	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.64067	0.45733	0	0.492483	0.08430	1	.	.	4.33	4.33	0.51083	2.165000	0.42023	2.049000	0.30337	0.498000	0.22619	0.956000	0.33378	0.966000	0.29516	0.576000	0.30797	0.0:0.8927:0.0:0.1073	8.605	0.32933	737	0.53483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	613.98	37	chr9	38068210	.	C	T	613.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.290e-01;DP=683;ExcessHet=0.0000;FS=2.955;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.16;ReadPosRankSum=1.63;SOR=0.473	GT:AD:DP:GQ:PL	0/1:13,25:38:99:628,0,288	20	0	1	0
chr9	66990502	66990502	C	A	exonic	SPATA31A3	.	nonsynonymous SNV	SPATA31A3:NM_001083124:exon3:c.G251T:p.G84V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.076	B	0.02	B	.	.	1.000	D	0.345	N	3.72	T	-0.884	T	0.007	T	0.273	0.072	4.391	0.389	0.092	0.086	2.852	0.037	0.00237088460897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.30729	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.11483	.	.	.	.	.	.	.	0.07958597	0.12820	T	.	.	.	.	.	.	.	.	.	0.04523837151127712	0.04467	.	.	.	.	.	0.00169	0.01120	T	.	.	.	.	.	.	.	.	.	0.39666	0.09990	T	.	.	.	.	.	.	.	.	-2.634	0.06766	T	.	.	0.123	0.25624	B	.	.	0.525398	0.08943	5.722	.	.	.	.	.	.	0.036808	0.04962	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.635000	0.05568	-7.730000	0.01097	-0.801000	0.03157	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	.	.	.	994	0.00715	Domain of unknown function DUF4599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	134.98	14	chr9	66990502	.	C	A	134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.085e+00;DP=360;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=24.48;MQRankSum=-9.980e-01;QD=7.50;ReadPosRankSum=-6.800e-01;SOR=0.368	GT:AD:DP:GQ:PL	0/1:11,7:18:99:149,0,268	20	0	1	0
chr9	85741926	85741926	-	GGCGGCGGCGCTGGA	exonic	AGTPBP1	.	nonframeshift insertion	AGTPBP1:NM_001286715:exon1:c.36_37insTCCAGCGCCGCCGCC:p.A12_A13insSSAAA	.	.	239	1281	2	0	0	2	0.000780031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1404826334	0.0035	0.0029	0.0036	0.0035	0.0040	0.0035	0.0034	0.0039	0.0039	0.0007	0.0012	0	0	0.0003	0.0032	0.0040	0.0032	0.0002	0.0019	0.0019	0.0020	0.0017	0.0033	0.0017	0.0017	0.0030	0.0028	0.0007	0	0.0018	0	0.0002	9.517e-05	0	0.0033	0.0010	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	167.31	16	chr9	85741926	.	C	CGGCGGCGGCGCTGGA	167.31	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.190e-01;DP=297;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0386;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=15.21;ReadPosRankSum=-9.790e-01;SOR=1.022	GT:AD:DP:GQ:PL	0/1:7,4:13:99:181,0,277	19	0	1	1
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	0/1:210,153:381:99:997,0,2959	0	0	21	0
chr9	92318622	92318622	C	T	exonic	NOL8	.	nonsynonymous SNV	NOL8:NM_001330722:exon6:c.G482A:p.R161H	.	.	476	1026	17	3	0	23	0.0110843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.004	B	0.002	B	.	.	0.999	N	0.69	N	2.71	T	-1.045	T	0.049	T	0.243	1.470	10.86	-1.93	-0.587	-0.096	12.651	0.013	.	0.0046	0.00379393	0.0087	0.0017	0.0042	0	0.0100	0.0129	0.0117	0.0026	0.0073285	1133	154602	rs41277645	0.0076	0.0077	0.0077	0.0075	0.0105	0.0075	0.0074	0.0083	0.0083	0.0012	0.0046	0.0121	2.544e-05	0.0068	0.0105	0.0085	0.0077	0.0022	0.0061	0.0061	0.0061	0.0060	0.0090	0.0057	0.0056	0.0084	0.0081	0.0014	0.0417	0.0043	0.0141	0	0.0065	0.0068	0.0090	0.0095	0.0027	0.285	0.16793	T	0.393	0.22828	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	0.999294	0.21398	N	1.91	0.51138	L	2.49	0.44856	T	-1.2	0.41046	N	0.124	0.16028	-1.0449	0.15854	T	0.049	0.20947	T	9	0.0024565756	0.00037	T	.	.	.	0.013	0.01715	.	.	0.264547087235	0.26054	0.4168627501312173	0.41602	0.0630273627958	0.07016	0.245842188597	0.03343	T	0.00535	0.24182	T	-0.548503	0.00298	T	-0.551268	0.17205	T	0.0071528414580583	0.00082	T	0.106489	0.01237	T	0.030291647	0.02666	0.052772533	0.08761	0.030291647	0.02666	0.052772533	0.08760	-4.49	0.30757	T	.	.	0.077	0.09288	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.493128	0.19202	14.14	0.83054433844074205	0.14518	0.17030	0.19658	N	AEFBI	0.080389	0.16251	N	-1.06666239241809	0.07265	0.3369406	-0.973413847232161	0.10384	0.5226825	0.0982261939734063	0.16300	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	-1.93	0.07180	-0.110000	0.10794	-2.755000	0.03395	-0.908000	0.02283	0.353000	0.25784	0.000000	0.08366	0.975000	0.56047	0.0:0.3716:0.0:0.6284	12.651	0.56126	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	rs41277645	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1159.98	33	chr9	92318622	.	C	T	1159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.630e-01;DP=812;ExcessHet=0.0000;FS=0.741;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=-6.220e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/1:49,52:101:99:1174,0,1111	20	0	1	0
chr9	92474746	92474748	TCA	-	exonic	ASPN	.	nonframeshift deletion	ASPN:NM_001193335:exon2:c.150_152del:p.D50del	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	1/4:0,44,0,0,37,0:81:99:3116,1498,1482,3165,1565,3258,3165,1565,3258,3258,1687,0,1740,1740,1664,3165,1565,3258,3258,1740,3258	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	1/4:0,44,0,0,37,0:81:99:3116,1498,1482,3165,1565,3258,3165,1565,3258,3258,1687,0,1740,1740,1664,3165,1565,3258,3258,1740,3258	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	1/4:0,44,0,0,37,0:81:99:3116,1498,1482,3165,1565,3258,3165,1565,3258,3258,1687,0,1740,1740,1664,3165,1565,3258,3258,1740,3258	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	1/4:0,44,0,0,37,0:81:99:3116,1498,1482,3165,1565,3258,3165,1565,3258,3258,1687,0,1740,1740,1664,3165,1565,3258,3258,1740,3258	1	2	3	0
chr9	96523388	96523388	T	C	exonic	CDC14B	.	nonsynonymous SNV	CDC14B:NM_001077181:exon11:c.A1007G:p.Y336C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.004	B	0.012	B	0.034	N	0.673	D	1.61	L	1.95	T	-1.052	T	0.042	T	0.218	1.752	11.82	4.16	1.040	1.857	4.942	0.037	0.00706441792771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.993e-07	0	0	6.572e-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	0.131	0.30097	T	0.169	0.31026	T	0.002	0.12183	B	0.005	0.16012	B	0.034256	0.24793	N	0.446282	0.673115	0.33162	D	.	.	.	1.95	0.22474	T	-1.22	0.30964	N	0.125	0.16028	-1.0522	0.13790	T	0.042	0.18118	T	10	0.13092345	0.24916	T	0.007064	0.18704	T	0.037	0.09474	.	.	0.271610670623	0.26767	0.557300544536999	0.55657	0.380965989734	0.39459	0.35995811224	0.19380	T	0.079853	0.36227	T	-0.189953	0.22265	T	-0.510631	0.21250	T	0.175665870308876	0.18957	T	0.845715	0.52486	T	0.106092796	0.25087	0.04051152	0.04396	0.106092796	0.25087	0.04051152	0.04395	-5.721	0.46960	T	.	.	0.071	0.09723	B	.;.;.;.	.;.;.;.	2.374461	0.30473	18.45	0.98173063440291808	0.38873	0.85387	0.44515	D	AEBI	0.374873	0.45961	N	-0.203963551056199	0.32971	1.865392	-0.064165680709506	0.36883	2.152256	0.995115279109925	0.33959	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.29	4.16	0.48138	1.843000	0.38900	2.724000	0.34335	0.665000	0.62972	0.991000	0.37257	1.000000	0.68203	0.990000	0.65344	0.269:0.0848:0.0:0.6462	4.942	0.13320	856	0.34373	.;.;.;.	.	.	.	.	.	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	2777.98	34	chr9	96523388	.	T	C	2777.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.04;DP=916;ExcessHet=0.0000;FS=2.399;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.97;MQRankSum=0.00;QD=13.29;ReadPosRankSum=-1.882e+00;SOR=0.892	GT:AD:DP:GQ:PL	0/1:106,103:209:99:2792,0,2659	20	0	1	0
chr9	97854424	97854424	-	GCC	exonic	FOXE1	.	nonframeshift insertion	FOXE1:NM_004473:exon1:c.510_511insGCC:p.A179_I180insA,	Bamforth-Lazarus syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755194188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	10238.96	16	chr9	97854418	.	AGCCGCC	AGCCGCCGCC,A	10238.96	.	AC=2,29;AF=0.048,0.690;AN=42;BaseQRankSum=0.545;DP=637;ExcessHet=0.4237;FS=0.947;InbreedingCoeff=0.1378;MLEAC=2,29;MLEAF=0.048,0.690;MQ=60.00;MQRankSum=0.00;QD=30.56;ReadPosRankSum=1.13;SOR=0.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:7,0,14:21:99:.:.:533,554,848,0,294,251	2	0	1	0
chr9	98088002	98088002	G	C	exonic	TRIM14	.	nonsynonymous SNV	TRIM14:NM_014788:exon6:c.C797G:p.A266G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.999	D	0.919	D	0.000	D	0.978	D	1.565	L	-0.01	T	-0.589	T	0.287	T	0.134	1.885	12.26	2.85	0.408	2.120	7.499	0.119	0.253325444509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.326	0.18789	T	0.999	0.77913	D	0.919	0.65474	D	0.000008	0.62929	D	0.000000	0.934557	0.39386	D	2.485	0.72352	M	-0.01	0.62762	T	-1.74	0.41239	N	0.478	0.51315	-0.5885	0.65280	T	0.287	0.65919	T	10	0.3047067	0.47993	T	0.253325	0.89207	D	0.119	0.33137	0.259	0.20159	0.802445388504	0.80060	0.603797602369257	0.60310	1.40911643441	0.85404	0.696572422981	0.66649	T	0.03355	0.22959	T	-0.114349	0.34050	T	-0.402031	0.33148	T	0.94648951292038	0.62479	D	0.760924	0.38541	T	0.38703337	0.59821	0.15885353	0.37075	0.38703337	0.59821	0.15885353	0.37075	-5.707	0.43756	T	.	.	0.143	0.31583	B	.;.;.	.;.;.	4.791208	0.77763	26.8	0.97478552647155081	0.34178	0.74840	0.36622	D	ALL	0.195138	0.32219	N	0.248948123742922	0.53585	3.526918	0.20408619743319	0.50073	3.203282	0.999999999023702	0.74766	0.72623	0.87236	0	0.702456	0.74545	0	0.594344	0.31042	0	0.71	0.69187	0	.	.	4.73	2.85	0.32333	2.360000	0.43805	4.799000	0.44955	0.520000	0.23804	0.987000	0.36337	1.000000	0.68203	0.972000	0.54974	0.09:0.0:0.7453:0.1647	7.499	0.26674	678	0.60190	Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated;Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated;Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-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	1479.98	44	chr9	98088002	.	G	C	1479.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=871;ExcessHet=0.0000;FS=0.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=1.09;SOR=0.796	GT:AD:DP:GQ:PL	0/1:70,57:127:99:1494,0,1696	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	0/1:34,35:69:99:809,0,896	19	0	2	0
chr9	99054627	99054627	A	G	exonic	COL15A1	.	nonsynonymous SNV	COL15A1:NM_001855:exon32:c.A3002G:p.K1001R,	.	.	422	1055	45	0	0	45	0.0208817	.	.	3210553	COL15A1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.21	T	0.993	D	0.978	D	0.000	D	0.999	D	1.5	L	1.56	T	-1.038	T	0.103	T	0.361	3.415	17.54	5.67	2.288	5.419	12.586	0.082	.	0.0058	0.0081869	0.0106	0.0014	0.0036	0.0002	0.0013	0.0095	0.0118	0.0341	0.0095988	1484	154602	rs35544077	0.0087	0.0087	0.0078	0.0095	0.0297	0.0085	0.0085	0.0288	0.0284	0.0010	0.0041	0.0262	7.559e-05	0.0011	0.0215	0.0075	0.0110	0.0297	0.0060	0.0060	0.0060	0.0060	0.0297	0.0057	0.0055	0.0257	0.0242	0.0013	0	0.0045	0.0254	0.0002	0.0010	0.0408	0.0077	0.0061	0.0297	0.089	0.32141	T	0.131	0.34596	T	0.993	0.65571	D	0.978	0.74104	D	0.000000	0.84330	D	0.051404	0.99859	0.45136	D	0.285	0.10073	N	1.56	0.29602	T	-1.18	0.30140	N	0.522	0.55193	-1.0376	0.18048	T	0.103	0.37894	T	10	0.007863045	0.00179	T	.	.	.	0.082	0.23913	.	.	.	.	0.2692407998404102	0.26837	0.369191664281	0.38448	0.616936087608	0.55296	T	0.142979	0.47885	T	-0.469727	0.00853	T	-0.424509	0.30559	T	0.0275378019383437	0.01620	T	0.884712	0.60854	D	0.1890465	0.40430	0.22869907	0.47919	0.1890465	0.40429	0.22869907	0.47918	-6.969	0.53807	T	.	.	0.182	0.39511	B	.;.	.;.	4.569001	0.72067	25.8	0.99826105706177104	0.90852	0.95609	0.65407	D	AEDBI	0.740387	0.68465	D	0.62286768409591	0.74624	6.164248	0.639144172956136	0.77805	6.750602	0.999999953136641	0.74766	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.67	5.67	0.87673	5.801000	0.68775	11.057000	0.85382	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	12.586	0.55769	850	0.35610	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.09524	10392.9	202	chr9	99054627	.	A	G	10392.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.56;DP=1172;ExcessHet=0.0082;FS=0.000;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=19.68;ReadPosRankSum=0.300;SOR=0.689	GT:AD:DP:GQ:PL	0/1:81,87:168:99:2396,0,1925	18	1	2	0
chr9	104569879	104569879	T	G	exonic	OR13C8	.	nonsynonymous SNV	OR13C8:NM_001004483:exon1:c.T712G:p.F238V,	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.989	D	0.000	D	0.625	N	3.665	H	8.27	T	-1.133	T	0.003	T	0.482	3.123	16.44	4.9	2.181	1.275	12.791	0.151	0.00379318001626	0.0002	0.000399361	0.0003	0	0.0002	0	0	0.0003	0.0011	0.0010	0.0002587	40	154602	rs150811269	0.0001	0.0001	0.0001	0.0002	0.0010	0.0001	0.0001	0.0005	0.0005	0	4.472e-05	3.826e-05	0	1.872e-05	0.0010	9.802e-05	0.0002	0.0006	0.0001	0.0002	0.0002	0.0001	0.0004	9.142e-05	7.699e-05	0.0002	0.0001	0	0	0	0	0	0	0	0.0002	0.0009	0.0004	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.989	0.78396	D	0.000021	0.55875	D	0.000000	0.625145	0.30746	N	3.115	0.87836	M	8.27	0.00268	T	-6.53	0.91741	D	0.238	0.26837	-1.1334	0.01627	T	0.003	0.01092	T	10	0.07562131	0.11710	T	0.003793	0.08837	T	0.151	0.39764	.	.	0.526592550251	0.52305	0.13363015237401754	0.13287	0.43234834177	0.43413	0.256666481495	0.04501	T	0.019983	0.15815	T	-0.357135	0.04294	T	-0.383184	0.35348	T	0.455727419305612	0.31008	T	0.793521	0.43550	T	0.9084109	0.92147	0.7566672	0.85620	0.9084109	0.92148	0.7566672	0.85621	-7.757	0.59403	D	.	.	0.318	0.54368	B	.	.	4.392023	0.67793	25.1	0.99050504859268984	0.51230	0.77064	0.37851	D	AEFI	0.240648	0.36239	N	0.685685106336443	0.78695	6.923579	0.572507054394651	0.72975	5.895488	2.31413445492756E-4	0.06095	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.9	4.9	0.63643	0.565000	0.23281	5.799000	0.49924	0.665000	0.62972	0.277000	0.25113	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	12.791	0.56914	888	0.27761	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	2927.98	37	chr9	104569879	.	T	G	2927.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.427e+00;DP=1014;ExcessHet=0.0000;FS=6.388;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=-2.573e+00;SOR=0.513	GT:AD:DP:GQ:PL	0/1:110,115:225:99:2942,0,3182	20	0	1	0
chr9	104598722	104598722	G	A	exonic	OR13C5	.	nonsynonymous SNV	OR13C5:NM_001004482:exon1:c.C692T:p.S231L,	.	.	435	1079	8	0	0	8	0.00369344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.31	B	0.109	B	0.091	U	1.000	N	1.07	L	8.75	T	-0.961	T	0.000	T	0.228	2.380	13.92	-3.69	-0.563	-1.242	5.897	0.008	0.00373500810889	0.0004	0.00159744	0.0011	9.61e-05	0.0007	0	0	0.0006	0.0033	0.0051	0.0009961	154	154602	rs75216399	0.0007	0.0007	0.0005	0.0009	0.0052	0.0006	0.0006	0.0048	0.0046	0.0011	0.0004	3.827e-05	0	1.872e-05	0.0050	0.0003	0.0011	0.0052	0.0006	0.0006	0.0005	0.0006	0.0052	0.0005	0.0004	0.0036	0.0031	0.0002	0	0.0004	0	0	9.432e-05	0.0068	0.0006	0.0019	0.0052	0.018	0.50676	D	0.022	0.57587	D	0.31	0.32798	B	0.109	0.31370	B	0.090941	0.20350	U	0.241453	1	0.08975	N	1.16	0.29674	L	8.75	0.00077	T	-2.04	0.46842	N	0.121	0.11197	-0.9611	0.38974	T	0.000	0.00114	T	10	0.004368484	0.00089	T	0.003735	0.08651	T	0.008	0.00669	.	.	0.24933006939	0.24537	0.09155794825137195	0.09088	0.577723116485	0.53685	0.187496125698	0.00184	T	0.005424	0.04871	T	-0.613792	0.00120	T	-0.653905	0.08682	T	0.0755495990053487	0.09409	T	0.881912	0.60169	D	0.06604982	0.14174	0.08250999	0.18837	0.06604982	0.14173	0.08250999	0.18837	-6.066	0.46828	T	.	.	0.089	0.12132	B	.	.	2.045602	0.26006	16.96	0.97670736589121576	0.35253	0.04976	0.10745	N	AEFI	0.072787	0.14537	N	-0.983645407160908	0.08953	0.4217742	-1.11581527755738	0.07398	0.3596803	5.79360732993064E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.03	-3.69	0.04162	-0.604000	0.05763	-20.000000	0.00162	0.614000	0.49286	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2576:0.3891:0.3533:0.0	5.897	0.18188	892	0.26670	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	2341.98	159	chr9	104598722	.	G	A	2341.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.490e-01;DP=2476;ExcessHet=0.0000;FS=6.272;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=-3.060e-01;SOR=0.443	GT:AD:DP:GQ:PL	0/1:89,91:180:99:2356,0,2327	20	0	1	0
chr9	106974250	106974250	T	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.T4214C:p.I1405T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.999	D	0.991	D	0.000	D	1.000	D	0.53	N	4.0	T	-1.074	T	0.061	T	0.838	4.266	22.3	5.66	2.151	7.665	15.905	0.332	0.0225480179474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.0	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.575	0.39704	L	3.38	0.05778	T	-0.68	0.36980	N	0.873	0.87049	-1.0740	0.08556	T	0.061	0.25455	T	10	0.3783521	0.54005	T	0.022548	0.45449	T	0.332	0.65424	0.419	0.46036	0.043077524339	0.03247	0.5838881706070325	0.58317	2.02329959298	0.94019	0.924512147903	0.98647	D	0.011805	0.11071	T	0.105501	0.64882	D	-0.0862318	0.64445	T	0.798904538154602	0.46279	D	0.963604	0.86445	D	0.1377539	0.31884	0.16932428	0.38958	0.1377539	0.31884	0.16932428	0.38957	-11.857	0.84147	D	.	.	0.989	0.94382	P	.;.;.	.;.;.	4.830708	0.78774	27.0	0.99799257148110543	0.88461	0.98380	0.82188	D	AEFBI	0.909931	0.86721	D	0.462121070414506	0.64895	4.754563	0.527672054984196	0.69859	5.42084	0.999999998491949	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	7.645000	0.82580	6.207000	0.54965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.905	0.79209	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.2812	2879.53	98	chr9	106974250	.	T	C	2879.53	.	AC=9;AF=0.281;AN=32;BaseQRankSum=-3.477e+00;DP=2598;ExcessHet=4.7172;FS=245.377;InbreedingCoeff=-0.3916;MLEAC=11;MLEAF=0.344;MQ=60.00;MQRankSum=0.00;QD=1.97;ReadPosRankSum=1.47;SOR=12.123	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,47:165:99:0|1:106974250_T_C:614,0,3464:106974250	7	0	9	5
chr9	106974252	106974252	G	A	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.G4216A:p.D1406N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	1.0	D	0.997	D	0.000	D	1.000	D	0.845	L	4.01	T	-1.115	T	0.065	T	0.14	5.527	35	5.66	2.662	9.434	19.759	0.240	0.0408367045235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.9	0.50570	L	3.42	0.05507	T	-1.1	0.35991	N	0.785	0.79503	-1.1146	0.02703	T	0.065	0.26772	T	10	0.41275227	0.56336	T	0.040837	0.59597	D	0.240	0.54500	0.441	0.49648	0.138757226776	0.13463	0.7163974984860814	0.71582	1.77884305262	0.91374	0.91669100523	0.98061	D	0.018486	0.14891	T	-0.186331	0.22798	T	-0.505428	0.21785	T	0.864430676400788	0.51459	D	0.975002	0.91107	D	0.1619377	0.36236	0.1629017	0.37816	0.1619377	0.36236	0.1629017	0.37816	-10.165	0.76340	D	.	.	0.990	0.93507	P	.;.;.	.;.;.	5.368506	0.90010	31	0.99920868308788402	0.98721	0.99180	0.92409	D	AEFBI	0.912600	0.87345	D	0.658390178150991	0.76912	6.574868	0.70769665526324	0.82963	7.898997	0.999999999998965	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	9.564000	0.97283	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.759	0.96302	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.075	989.01	80	chr9	106974252	.	G	A	989.01	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-4.111e+00;DP=1533;ExcessHet=0.3300;FS=217.469;InbreedingCoeff=-0.0966;MLEAC=3;MLEAF=0.075;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=2.52;SOR=9.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:118,36:157:99:.:.:535,0,4307	17	0	3	1
chr9	110137052	110137052	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1082C:p.R361T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.993	D	0.977	D	0.002	N	0.528	D	1.87	L	0.88	T	-0.548	T	0.199	T	0.636	0.801	8.213	4.73	1.367	2.869	8.596	0.118	0.0618637391386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.424e-06	0.0004	4.089e-06	2.753e-06	3.602e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.024	0.57104	D	0.949	0.65571	P	0.496	0.73820	P	0.002376	0.36688	N	0.265487	0.528475	0.31955	D	2.125	0.59049	M	0.88	0.46028	T	-1.48	0.56144	N	0.354	0.44857	-0.5485	0.66844	T	0.199	0.55442	T	10	0.25693607	0.43103	T	0.061864	0.68469	D	0.118	0.32913	0.194	0.10571	0.52468985305	0.52114	0.3132723605175298	0.31240	0.508839714498	0.49031	0.421055316925	0.27981	T	0.068456	0.33461	T	-0.00465218	0.51011	T	-0.244459	0.50362	T	0.82229095697403	0.47942	D	0.916508	0.71628	D	0.14253841	0.32799	0.105709225	0.25417	0.14253841	0.32798	0.105709225	0.25416	-6.736	0.54231	T	.	.	0.488	0.66996	A	.;.;.;.;.;.	.;.;.;.;.;.	3.479942	0.48587	22.6	0.93161729188529674	0.22814	0.93481	0.58334	D	AEFBCIJ	0.371545	0.45752	N	0.194427995474043	0.50931	3.278602	0.1677655242984	0.48093	3.029822	0.999992215884336	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.63	4.73	0.59485	3.590000	0.53726	5.886000	0.50702	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.1723:0.0:0.8277:0.0	8.596	0.32880	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	1628.87	70	chr9	110137052	.	G	C	1628.87	.	AC=8;AF=0.286;AN=28;BaseQRankSum=-2.866e+00;DP=1349;ExcessHet=3.5521;FS=192.403;InbreedingCoeff=-0.3771;MLEAC=10;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=2.60;ReadPosRankSum=0.889;SOR=10.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,23:78:99:0|1:110137052_G_C:368,0,1934:110137052	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	0/2:55,5,18:78:99:.:.:320,154,2101,0,1947,1935	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	0/2:55,5,18:78:99:.:.:320,154,2101,0,1947,1935	10	0	2	4
chr9	121169740	121169740	A	G	exonic	CNTRL	.	nonsynonymous SNV	CNTRL:NM_001330762:exon28:c.A4544G:p.K1515R	.	.	432	1079	9	2	0	13	0.00598802	.	.	723305	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.25	T	0.008	B	0.005	B	.	.	1.000	D	1.32	L	1.65	T	-1.067	T	0.075	T	0.126	1.971	12.55	5.05	2.371	3.102	10.816	0.026	0.00891980457178	0.0035	0.00119808	0.0038	0.0009	0.0015	0.0002	0.0006	0.0054	0.0011	0.0039	0.0037257	576	154602	rs34633370	0.0046	0.0046	0.0045	0.0047	0.0049	0.0045	0.0045	0.0048	0.0048	0.0007	0.0016	0.0146	0.0001	0.0012	0.0028	0.0049	0.0047	0.0040	0.0030	0.0030	0.0033	0.0028	0.0048	0.0028	0.0027	0.0044	0.0042	0.0010	0	0.0017	0.0107	0.0004	0.0007	0	0.0048	0.0028	0.0031	0.178	0.22138	T	0.303	0.20944	T	0.008	0.14655	B	0.005	0.11217	B	.	.	.	.	0.968907	0.38692	D	2.01	0.54746	M	1.65	0.34253	T	-0.58	0.17417	N	0.204	0.25867	-1.0671	0.10062	T	0.075	0.30303	T	9	0.006384015	0.00145	T	0.00892	0.23511	T	0.026	0.05648	.	.	0.460264052551	0.45650	0.04310492153911801	0.04255	0.0456050695835	0.04953	0.406211555004	0.25932	T	0.013968	0.11978	T	-0.534578	0.00361	T	-0.539707	0.18325	T	0.0155358656303767	0.00352	T	0.776522	0.46793	T	0.060162544	0.12311	0.11686432	0.28211	0.060162544	0.12311	0.11686432	0.28210	-4.042	0.24430	T	.	.	0.084	0.13268	B	.;.;.;.	.;.;.;.	2.864805	0.37866	20.6	0.98945163002420533	0.49016	0.86827	0.46194	D	AEFGBI	0.209796	0.33575	N	-0.037459556639952	0.40165	2.380631	0.160784834484831	0.47716	2.997716	0.999992436513266	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	6.17	5.05	0.67566	3.175000	0.50556	8.063000	0.76407	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.9265:0.0:0.0735:0.0	10.816	0.45779	891	0.26808	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	676.98	34	chr9	121169740	.	A	G	676.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.810e-01;DP=763;ExcessHet=0.0000;FS=0.909;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.15;ReadPosRankSum=0.327;SOR=0.910	GT:AD:DP:GQ:PL	0/1:45,29:74:99:691,0,1171	20	0	1	0
chr9	122849811	122849811	T	C	exonic	RC3H2	.	nonsynonymous SNV	RC3H2:NM_001354479:exon20:c.A3221G:p.K1074R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.956	P	0.899	P	0.000	D	1.000	D	0	N	0.8	T	-0.786	T	0.140	T	0.449	3.661	18.61	5.57	2.116	5.111	13.462	0.157	0.0285731711894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	0.956	0.54666	P	0.899	0.63802	P	0.000191	0.48115	D	0.143354	0.934829	0.37100	D	0	0.06538	N	0.8	0.48769	T	0.03	0.06612	N	0.411	0.50237	-0.7863	0.55944	T	0.140	0.45847	T	10	0.27385926	0.44937	T	0.028573	0.51232	D	0.157	0.40909	0.173	0.07894	0.703511283665	0.70093	0.18267405286198865	0.18186	0.530443275557	0.50583	0.539858341217	0.44425	T	0.022433	0.17293	T	-0.0837461	0.39104	T	-0.358072	0.38276	T	0.729137392728456	0.42165	D	0.852015	0.53695	D	0.14478275	0.33219	0.19641408	0.43370	0.14478275	0.33218	0.19641408	0.43369	-4.263	0.27655	T	.	.	0.082	0.08997	B	.;.	.;.	3.949676	0.57854	23.9	0.99830488458232303	0.91198	0.96154	0.67780	D	AEFDGBI	0.565484	0.57185	D	0.418795291250751	0.62457	4.461789	0.487782812205367	0.67180	5.049524	0.999999998859017	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.107000	0.64439	7.928000	0.74873	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.0:1.0	13.462	0.60683	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	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	376.98	34	chr9	122849811	.	T	C	376.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.010e-01;DP=698;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=1.20;SOR=0.877	GT:AD:DP:GQ:PL	0/1:18,14:32:99:391,0,531	20	0	1	0
chr9	123034795	123034795	T	C	exonic	GPR21	.	nonsynonymous SNV	GPR21:NM_005294:exon2:c.T229C:p.F77L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.001	N	1.000	D	-1.48	N	2.15	T	-1.011	T	0.011	T	0.06	1.178	9.792	4.56	0.989	1.945	6.215	0.057	0.0032621387982	.	.	1.65e-05	0	0	0	0	3.001e-05	0	0	1.29e-05	2	154602	rs770765245	4.105e-06	4.104e-06	5.446e-06	2.75e-06	5.397e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.397e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.001470	0.38917	N	0.105128	1	0.81001	D	-1.325	0.00682	N	2.15	0.19311	T	2.07	0.00375	N	0.068	0.04072	-1.0108	0.26666	T	0.011	0.04369	T	10	0.0347476	0.01694	T	0.003262	0.07207	T	0.057	0.16321	0.565	0.68633	0.102598925029	0.09809	0.06781563823800936	0.06719	0.236423596909	0.26183	0.594082951546	0.52069	T	0.009831	0.08919	T	-0.338766	0.05474	T	-0.708904	0.05352	T	0.0693306912799621	0.08557	T	0.772023	0.40277	T	0.08272118	0.19069	0.08179076	0.18616	0.08272118	0.19069	0.08179076	0.18616	-0.321	0.00485	T	.	.	0.299	0.54220	B	.;.	.;.	1.469569	0.18935	14.00	0.87405950354740702	0.17204	0.77633	0.38193	D	AEFBI	0.227544	0.35134	N	-0.685115954587095	0.16445	0.8379502	-0.380016301865287	0.25594	1.408414	0.999999451093058	0.74766	0.475973	0.10046	0	0.546412	0.12157	0	0.670488	0.60580	0	0.714379	0.83352	0	.	.	5.69	4.56	0.55644	1.959000	0.40036	2.436000	0.32752	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.2979:0.0:0.7021	6.215	0.19866	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	3318.98	44	chr9	123034795	.	T	C	3318.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.264e+00;DP=917;ExcessHet=0.0000;FS=2.317;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.95;ReadPosRankSum=0.208;SOR=0.531	GT:AD:DP:GQ:PL	0/1:94,128:222:99:3333,0,2464	20	0	1	0
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.58	P	0.16	B	0.012	N	1.000	D	1.87	L	0.85	T	-1.078	T	0.089	T	0.151	2.394	13.96	2.23	0.458	0.075	3.228	0.048	0.00511713534183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	4.926e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.133	0.34359	T	0.58	0.38813	P	0.16	0.34752	B	0.011693	0.29437	N	0.400143	0.937019	0.26902	N	.	.	.	0.85	0.47130	T	-2.13	0.48354	N	0.253	0.28616	-1.0776	0.07821	T	0.089	0.34271	T	10	0.15869087	0.29835	T	0.005117	0.13001	T	0.048	0.13305	0.117	0.02508	0.511220899679	0.50763	0.22389107574446282	0.22304	0.665481085244	0.59146	.	.	.	0.083009	0.36958	T	-0.233602	0.16174	T	-0.573329	0.15145	T	0.768105268478394	0.44326	D	0.642936	0.25461	T	0.07620602	0.17219	0.08653153	0.20054	0.07620602	0.17219	0.08653153	0.20054	-5.906	0.47647	T	.	.	0.170	0.37312	B	.;.	.;.	1.611943	0.20598	14.82	0.99153328533649743	0.53875	0.62448	0.31784	D	AEFDGBCI	0.199371	0.32618	N	-0.115357649790928	0.36724	2.126585	-0.0733379664216469	0.36497	2.124728	0.999992507834303	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	2.23	0.27189	0.091000	0.14885	0.384000	0.17813	0.649000	0.52879	0.993000	0.37899	0.958000	0.29226	0.883000	0.42306	0.3494:0.0:0.4698:0.1808	3.228	0.06340	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.425	2743.82	57	chr9	127707148	.	G	C,A	2743.82	.	AC=11,6;AF=0.275,0.150;AN=40;BaseQRankSum=-9.810e-01;DP=1576;ExcessHet=25.1139;FS=227.043;InbreedingCoeff=-0.7001;MLEAC=11,6;MLEAF=0.275,0.150;MQ=60.00;MQRankSum=0.00;QD=2.28;ReadPosRankSum=0.651;SOR=11.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,10,4:79:81:.:.:81,0,2505,109,1888,1951	3	0	11	1
chr9	127707150	127707150	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T119C:p.F40S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	1.0	D	0.993	D	0.000	D	1.000	D	2.175	M	1.1	T	-0.776	T	0.227	T	0.925	4.505	24.2	5.46	2.075	5.688	13.490	0.321	0.0295012344328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.025e-05	0.0013	2.604e-05	1.446e-05	3.126e-05	1.404e-05	1.209e-05	1.739e-05	1.477e-05	3.126e-05	0	0	0	0	0	2.5e-05	0	1.182e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.053	0.47336	T	1.0	0.90584	D	0.993	0.81110	D	0.000003	0.62929	D	0.105467	0.99989	0.50595	D	.	.	.	1.1	0.39050	T	-7.17	0.94145	D	0.892	0.90025	-0.7757	0.56542	T	0.227	0.59233	T	10	0.62868714	0.68391	D	0.029501	0.51995	D	0.321	0.64318	0.292	0.25400	0.617737460462	0.61464	0.8563961070607592	0.85602	1.09668489094	0.77603	.	.	.	0.333157	0.70304	T	0.256066	0.79166	D	0.130044	0.78896	D	0.995957314968109	0.88384	D	0.631737	0.24648	T	0.883188	0.89932	0.88241297	0.93731	0.883188	0.89933	0.88241297	0.93731	-12.272	0.88445	D	.	.	0.839	0.79209	P	.;.	.;.	4.916668	0.80938	27.4	0.99871547018832008	0.94902	0.88781	0.48875	D	AEFDGBCI	0.697108	0.65523	D	0.612068453635021	0.73938	6.048333	0.59676151836649	0.74706	6.182971	0.9999999998598	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	5.46	0.80021	5.665000	0.67722	5.919000	0.51137	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.0:1.0	13.490	0.60843	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1185.39	50	chr9	127707150	.	T	C	1185.39	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-2.872e+00;DP=1368;ExcessHet=4.7172;FS=144.390;InbreedingCoeff=-0.2762;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.85;ReadPosRankSum=0.908;SOR=10.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,17:82:99:0|1:127707149_T_C:167,0,1816:127707149	12	0	9	0
chr9	128258520	128258522	CCT	-	exonic	GOLGA2	.	nonframeshift deletion	GOLGA2:NM_001366246:exon21:c.2105_2107del:p.E703del	.	.	334	916	219	43	10	315	0.142723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	6196.26	36	chr9	128258516	.	GCCTCCT	GCCT,G	6196.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-2.320e-01;DP=932;ExcessHet=1.7912;FS=2.196;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=16.57;ReadPosRankSum=0.432;SOR=0.574	GT:AD:DP:GQ:PL	0/1:27,26,0:53:99:1011,0,1034,1092,1113,2205	15	0	5	0
chr9	128434150	128434150	C	T	exonic	CERCAM	.	nonsynonymous SNV	CERCAM:NM_001286760:exon10:c.C1018T:p.R340C	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.485	M	-1.24	T	0.400	D	0.660	D	0.888	5.986	37	5.74	2.700	7.704	18.478	0.879	0.105487546978	0.0014	0.00119808	0.0014	0.0004	0.0003	0	0.0003	0.0019	0	0.0018	0.001326	205	154602	rs148628855	0.0017	0.0017	0.0017	0.0017	0.0019	0.0017	0.0016	0.0019	0.0018	0.0002	0.0003	0.0028	2.519e-05	0.0005	0.0005	0.0019	0.0013	0.0018	0.0012	0.0012	0.0011	0.0013	0.0019	0.0010	0.0010	0.0016	0.0015	0.0003	0	0.0003	0.0029	0.0002	0.0007	0	0.0019	0.0005	0.0019	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.6	0.93737	H	-1.24	0.79176	T	-7.36	0.95015	D	0.867	0.87373	0.400	0.89097	D	0.660	0.88182	D	10	0.27764398	0.45331	T	0.105488	0.78062	D	0.879	0.96428	.	.	0.946194134927	0.94562	0.8704118528064804	0.87007	0.66027642863	0.58860	0.599453687668	0.52827	T	0.145682	0.52535	T	0.0907332	0.63272	D	0.352318	0.90410	D	0.16221044505934	0.18033	T	0.99555	0.98441	D	0.80662143	0.84332	0.6788367	0.81133	0.80662143	0.84334	0.6788367	0.81134	-11.186	0.80984	D	.	.	0.134	0.43241	B	.;.;.	.;.;.	5.455528	0.91101	32	0.99941826544437318	0.99824	0.99489	0.96653	D	AEFDGBI	0.955885	0.97403	D	0.908383896896255	0.92164	11.26876	0.884541067951777	0.94863	13.10587	0.999999999999821	0.74766	0.634777	0.41761	0	0.670034	0.63936	0	0.645312	0.48771	0	0.645665	0.59343	0	.	.	5.74	5.74	0.90070	7.812000	0.84643	5.942000	0.51497	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	18.478	0.90747	381	0.83684	.;.;.	.	.	.	.	.	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	1075.98	35	chr9	128434150	.	C	T	1075.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.520e-01;DP=896;ExcessHet=0.0000;FS=2.307;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.68;ReadPosRankSum=-2.270e-01;SOR=0.495	GT:AD:DP:GQ:PL	0/1:70,54:124:99:1090,0,1548	20	0	1	0
chr9	128945854	128945854	T	C	exonic	DOLK	.	nonsynonymous SNV	DOLK:NM_014908:exon1:c.A1450G:p.I484V,	Congenital disorder of glycosylation, type Im, Autosomal recessive	.	0	1494	26	2	0	30	0.00994036	.	.	229664	DK1-congenital_disorder_of_glycosylation|not_provided|Cardiovascular_phenotype|not_specified	MONDO:MONDO:0012556,MedGen:C1835849,OMIM:610768,Orphanet:91131|MedGen:C3661900|MedGen:CN230736|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.017	B	0.015	B	0.000	D	1.000	D	1.085	L	0.29	T	-1.007	T	0.130	T	0.183	1.281	10.19	3.13	0.380	2.855	8.782	0.057	.	0.0007	0.00319489	0.0020	0.0002	0	0	0.0002	0.0007	0.0033	0.0111	0.001727	267	154602	rs147630977	0.0010	0.0010	0.0007	0.0012	0.0091	0.0009	0.0009	0.0086	0.0084	5.974e-05	0.0002	3.826e-05	2.519e-05	5.616e-05	0.0061	0.0004	0.0015	0.0091	0.0008	0.0008	0.0006	0.0009	0.0104	0.0006	0.0006	0.0081	0.0073	7.217e-05	0	0.0005	0	0	9.413e-05	0	0.0007	0.0009	0.0104	0.161	0.23631	T	0.242	0.24264	T	0.017	0.17573	B	0.015	0.17295	B	0.000000	0.84330	D	0.000000	0.999902	0.50806	D	1.18	0.29980	L	0.29	0.58897	T	-0.36	0.13035	N	0.189	0.20660	-1.0069	0.27881	T	0.130	0.44048	T	10	0.008740902	0.00198	T	.	.	.	0.057	0.16321	.	.	0.634202473982	0.63120	0.4641050550355261	0.46329	0.307689579092	0.33064	0.695589542389	0.66507	T	0.197011	0.55356	T	-0.459298	0.00993	T	-0.424564	0.30554	T	0.00924988242751401	0.00117	T	0.779722	0.41422	T	0.04478138	0.07219	0.06884091	0.14427	0.06063995	0.12468	0.0722512	0.15564	-3.126	0.11597	T	0.2537091946592083	0.34318	0.118	0.24123	B	.	.	1.453646	0.18750	13.91	0.96607820403466116	0.30430	0.91131	0.52921	D	AEFDBI	0.310156	0.41625	N	-0.269190474146577	0.30345	1.691105	-0.120153768624484	0.34578	1.99061	0.999997413625794	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.46	3.13	0.35090	2.843000	0.47939	1.968000	0.29973	0.665000	0.62972	1.000000	0.71638	0.996000	0.32793	0.674000	0.33367	0.0:0.1531:0.0:0.8469	8.782	0.33955	896	0.25515	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	4818.98	39	chr9	128945854	.	T	C	4818.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.964e+00;DP=1102;ExcessHet=0.0000;FS=2.131;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=0.247;SOR=0.591	GT:AD:DP:GQ:PL	0/1:188,200:388:99:4833,0,4908	20	0	1	0
chr9	129807271	129807271	C	G	exonic	TOR1B	.	nonsynonymous SNV	TOR1B:NM_001317893:exon3:c.C549G:p.H183Q	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.212	B	0.027	B	0.000	D	1.000	D	1.53	L	1.49	T	-1.098	T	0.056	T	0.633	1.421	10.69	2.41	0.227	0.258	9.119	0.183	0.00930276036654	.	0.00159744	0.0010	0	0	0	0	0	0	0.0073	0.0008344	129	154602	rs558511047	0.0004	0.0004	0.0002	0.0007	0.0070	0.0004	0.0004	0.0065	0.0063	0	0	0	0	0	0	0	0.0004	0.0070	0.0002	0.0002	0.0001	0.0003	0.0062	0.0001	0.0001	0.0045	0.0039	0	0	0	0	0	0	0	1.47e-05	0	0.0062	0.452	0.08943	T	0.433	0.13595	T	0.212	0.30008	B	0.027	0.21085	B	0.000000	0.84330	D	0.046204	0.999987	0.54805	D	2.27	0.64531	M	1.49	0.31470	T	-4.45	0.77717	D	0.606	0.62357	-1.0976	0.04394	T	0.056	0.23413	T	10	0.011102766	0.00244	T	0.009303	0.24413	T	0.183	0.45592	0.707	0.84327	0.231005064126	0.22704	0.8587079883264593	0.85833	0.374034116714	0.38869	0.641067445278	0.58715	T	0.59526	0.86948	D	-0.399894	0.02318	T	-0.343052	0.39998	T	0.0932378678971477	0.11597	T	0.786121	0.42437	T	0.2541508	0.48441	0.1831965	0.41293	0.2541508	0.48441	0.1831965	0.41293	-8.734	0.65968	D	.	.	0.289	0.52068	B	.	.	1.944000	0.24691	16.49	0.91582510923594962	0.20864	0.88409	0.48324	D	AEFBI	0.424181	0.48946	N	-0.437398936876184	0.24168	1.303158	-0.324243312990656	0.27318	1.514991	0.999798253360912	0.43153	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.28	2.41	0.28644	0.279000	0.18532	-0.098000	0.11976	-0.820000	0.02968	0.986000	0.36153	0.002000	0.18203	0.868000	0.41282	0.0:0.6845:0.0:0.3155	9.119	0.35939	374	0.84073	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3067.98	37	chr9	129807271	.	C	G	3067.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.06;DP=1220;ExcessHet=0.0000;FS=0.484;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-5.850e-01;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,116:228:99:0|1:129807271_C_G:3082,0,4329:129807271	20	0	1	0
chr9	130425813	130425813	C	T	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon90:c.C13768T:p.R4590W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	.	.	0.989	N	1.61	L	1.45	T	-0.854	T	0.099	T	0.349	3.775	19.17	4.68	2.158	3.102	8.845	0.115	.	.	0.000998403	0.0032	0	0	0	0	0	0.0051	0.0065	0.0003752	58	154602	rs531676404	0.0003	0.0003	0.0002	0.0005	0.0052	0.0003	0.0003	0.0048	0.0046	3.165e-05	0	0	0	0	0	1.854e-05	0.0003	0.0052	0.0002	0.0002	7.709e-05	0.0003	0.0050	0.0001	0.0001	0.0034	0.0029	7.216e-05	0	6.536e-05	0	0	0	0	2.94e-05	0	0.0050	.	.	.	0.029	0.54541	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.17140	-0.8538	0.51703	T	0.099	0.36983	T	6	0.008239478	0.00187	T	.	.	.	.	.	.	.	0.342168650903	0.33825	0.46429013773871297	0.46348	.	.	.	.	.	0.004702	0.04113	T	-0.360281	0.04114	T	-0.287961	0.45984	T	0.156818439412635	0.17634	T	0.789321	0.42944	T	0.14965017	0.34107	0.15573	0.36491	0.14965017	0.34106	0.15573	0.36490	-7.349	0.56544	T	.	.	0.087	0.11269	B	.	.	3.228721	0.44022	21.9	0.99900753447184909	0.97275	0.64639	0.32472	D	AEFDGBHCI	0.585533	0.58392	D	0.0967834205443716	0.46312	2.873541	0.100520625732395	0.44574	2.736663	0.999999043021164	0.74766	0.646311	0.45356	0	0.657636	0.61667	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	4.68	4.68	0.58319	2.699000	0.46744	0.775000	0.21430	0.599000	0.40250	0.942000	0.32722	0.000000	0.08366	0.657000	0.32885	0.0:0.8967:0.0:0.1033	8.845	0.34323	362	0.84826	G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	905.98	38	chr9	130425813	.	C	T	905.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.900e-01;DP=837;ExcessHet=0.0000;FS=3.113;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=0.680;SOR=0.379	GT:AD:DP:GQ:PL	0/1:40,38:78:99:920,0,993	20	0	1	0
chr9	130626373	130626373	G	A	exonic	FUBP3	.	nonsynonymous SNV	FUBP3:NM_003934:exon12:c.G985A:p.G329S,	.	.	.	.	.	.	.	.	.	.	.	2392082	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.6	T	0.995	D	0.774	P	0.000	D	1.000	D	2.015	M	1.01	T	-0.890	T	0.166	T	0.506	4.355	22.9	4.76	1.374	6.524	12.819	0.166	0.0299526240704	.	.	0.0002	0	0.0001	0	0	2.021e-05	0	0.0009	9.7e-05	15	154602	rs547113458	5.272e-05	5.336e-05	4.36e-05	6.194e-05	0.0007	4.281e-05	3.956e-05	0.0005	0.0005	2.988e-05	0	0	0	0	0	1.26e-05	8.286e-05	0.0007	1.314e-05	1.313e-05	0	2.689e-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	0.24	0.17701	T	0.049	0.48336	D	0.995	0.67487	D	0.774	0.57014	P	0.000001	0.84330	D	0.096125	0.999968	0.81001	D	2.045	0.56016	M	1.01	0.41058	T	-2.18	0.49187	N	0.791	0.78737	-0.8901	0.48925	T	0.166	0.50502	T	10	0.48366293	0.60580	T	0.029953	0.52367	D	0.166	0.42578	0.392	0.41606	0.587613165634	0.58436	0.7702483988900216	0.76973	0.58691032302	0.54283	0.603704214096	0.53427	T	0.063465	0.32184	T	-0.329749	0.06130	T	-0.33071	0.41391	T	0.558398485183716	0.34794	D	0.947805	0.79866	D	0.08609854	0.19999	0.10830366	0.26088	0.08609854	0.19998	0.10830366	0.26087	-8.187	0.62337	D	.	.	0.080	0.07937	B	.	.	4.431258	0.68724	25.3	0.9982492876969784	0.90764	0.96999	0.72108	D	AEFDGBHCI	0.819483	0.74049	D	0.466245821515384	0.65131	4.784014	0.466002131321887	0.65749	4.863537	0.999999999793956	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	5.67	4.76	0.60189	6.513000	0.73652	9.853000	0.82002	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.0789:0.0:0.9211:0.0	12.819	0.57065	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	0	0	0	0	0.02381	1895.98	33	chr9	130626373	.	G	A	1895.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=878;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.47;ReadPosRankSum=-5.690e-01;SOR=0.712	GT:AD:DP:GQ:PL	0/1:59,72:131:99:1910,0,1400	20	0	1	0
chr9	130911831	130911831	G	C	exonic	FIBCD1	.	nonsynonymous SNV	FIBCD1:NM_032843:exon5:c.C907G:p.R303G	.	.	414	1044	61	3	0	67	0.0310905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.977	D	0.9	P	0.000	D	1.000	D	2.54	M	-1.12	T	0.399	D	0.609	D	0.642	2.707	15.01	4.18	2.404	2.054	15.166	0.621	.	0.0039	0.00279553	0.0073	0.0002	0.0035	0	0.0029	0.0074	0.0074	0.0172	0.0046442	718	154602	rs144181457	0.0046	0.0046	0.0042	0.0050	0.0237	0.0045	0.0045	0.0204	0.0192	0.0006	0.0020	0.0127	5.136e-05	0.0020	0.0237	0.0040	0.0048	0.0155	0.0037	0.0037	0.0037	0.0038	0.0138	0.0035	0.0034	0.0111	0.0101	0.0005	0.0186	0.0029	0.0136	0	0.0016	0.0136	0.0049	0.0081	0.0138	0.003	0.68238	D	0.002	0.79402	D	0.977	0.58535	D	0.9	0.63913	P	0.000014	0.62929	D	0.112664	0.999867	0.50061	D	2.85	0.82803	M	-1.64	0.82533	D	-4.28	0.77881	D	0.742	0.77601	0.399	0.89075	D	0.609	0.86161	D	10	0.02502969	0.00710	T	.	.	.	0.621	0.85301	.	.	0.843453965544	0.84196	0.5856316524252596	0.58492	0.535445488609	0.50911	0.552755832672	0.46246	T	0.155961	0.49792	T	-0.170944	0.25092	T	-0.00664874	0.69902	D	0.0313949127240149	0.02208	T	0.953105	0.82105	D	0.6424315	0.74961	0.4553206	0.68334	0.6424315	0.74962	0.4553206	0.68334	-8.692	0.65693	D	.	.	0.318	0.58826	B	.;.;.	.;.;.	4.207188	0.63535	24.6	0.99806678207815691	0.89085	0.86228	0.45468	D	AEFDBCI	0.590179	0.58677	D	0.486586880830058	0.66304	4.933122	0.396929585345939	0.61376	4.336751	0.999996956823631	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.17	4.18	0.48473	2.754000	0.47211	6.937000	0.56979	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.016000	0.10718	0.0:0.0:0.8492:0.1508	15.166	0.72515	649	0.63102	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2162.11	33	chr9	130911831	.	G	C	2162.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.73;DP=961;ExcessHet=0.1072;FS=1.206;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=1.22;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,52:96:99:0|1:130911831_G_C:1188,0,1611:130911831	19	0	2	0
chr9	131525948	131525948	C	A	exonic	UCK1	.	nonsynonymous SNV	UCK1:NM_001135954:exon5:c.G538T:p.A180S,	.	.	441	12	103	962	4	2031	0.988298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	0.000	P	.	.	.	.	-1.006	T	0.084	T	.	1.509	11.00	-5.08	-1.075	-1.779	8.437	0.047	.	.	0.00359425	0.0115	0.0019	0.0029	0	0.0449	0.0153	0.0165	0.0005	0.0101616	1571	154602	rs2296957	0.0096	0.0096	0.0096	0.0095	0.0095	0.0094	0.0094	0.0093	0.0093	0.0010	0.0026	0.0129	0	0.0450	0.0040	0.0095	0.0079	0.0007	0.0100	0.0100	0.0094	0.0106	0.0126	0.0096	0.0094	0.0119	0.0117	0.0019	0.0022	0.0045	0.0130	0	0.0421	0.0102	0.0126	0.0076	0.0006	0.011	0.55530	D	0.243	0.24193	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.961213	0.81001	P	.	.	.	.	.	.	0.0	0.07008	N	0.172	0.18376	-1.0056	0.28277	T	0.084	0.32900	T	6	0.0025280416	0.00038	T	.	.	.	0.047	0.12962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.405995	0.02114	T	-0.339041	0.40452	T	0.00859621503851041	0.00105	T	0.247575	0.03662	T	.	.	.	.	.	.	.	.	-3.789	0.20640	T	.	.	0.073	0.04599	B	.	.	-0.350826	0.02404	0.268	0.94187066689665522	0.24411	0.05572	0.11472	N	AEFDGBI	0.025031	0.01647	N	-1.132785988659	0.06068	0.2783438	-1.18764225716248	0.06115	0.2933808	0.994168486267738	0.33516	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.97	-5.08	0.02708	-1.771000	0.01887	-0.905000	0.06976	-2.303000	0.00321	0.001000	0.13787	0.000000	0.08366	0.763000	0.36255	0.1735:0.394:0.4325:0.0	8.437	0.31954	419	0.81524	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.9048	62824.01	90	chr9	131525948	.	C	T,A	62824.01	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-7.610e-01;DP=2393;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=60.00;MQRankSum=0.00;QD=26.87;ReadPosRankSum=0.558;SOR=0.662	GT:AD:DP:GQ:PL	1/1:0,97,0:97:99:3031,291,0,3031,291,3031	0	17	3	0
chr9	134050585	134050585	G	A	exonic	BRD3	.	nonsynonymous SNV	BRD3:NM_007371:exon5:c.C503T:p.T168I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.023	B	0.026	B	0.163	N	0.942	D	1.08	L	-0.09	T	-0.860	T	0.187	T	0.229	2.516	14.37	4.97	2.451	4.265	17.570	0.047	0.0505642804713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.21144	T	0.147	0.32783	T	0.023	0.18885	B	0.014	0.20792	B	0.163145	0.17600	N	0.551904	0.942321	0.37367	D	0.575	0.15311	N	-0.09	0.64086	T	-0.26	0.12661	N	0.161	0.19055	-0.8595	0.51298	T	0.187	0.53767	T	10	0.13460177	0.25616	T	0.050564	0.64295	D	0.047	0.12962	0.283	0.23961	0.322284741503	0.31843	0.2016742107606698	0.20084	0.790290557923	0.65750	0.524584293365	0.42273	T	0.06015	0.31309	T	-0.109618	0.34832	T	-0.395235	0.33940	T	0.352939188480377	0.27134	T	0.686731	0.29555	T	0.07630973	0.17248	0.0738956	0.16108	0.07630973	0.17248	0.0738956	0.16108	-5.735	0.44487	T	.	.	0.092	0.14888	B	.;.	.;.	3.364186	0.46455	22.3	0.98530277326719562	0.42582	0.96718	0.70568	D	AEFDBI	0.453679	0.50671	N	-0.0920747557245134	0.37740	2.200029	0.0870507471074732	0.43895	2.681951	0.999999999714893	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	4.333000	0.59070	7.463000	0.59074	0.676000	0.76740	0.953000	0.33222	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	17.570	0.87830	463	0.78548	.;.	.	.	.	.	.	Uncertain significance	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	1445.98	34	chr9	134050585	.	G	A	1445.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.710e-01;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=-8.570e-01;SOR=0.715	GT:AD:DP:GQ:PL	0/1:65,61:126:99:1460,0,1588	20	0	1	0
chr9	134835104	134835104	C	T	exonic	COL5A1	.	nonsynonymous SNV	COL5A1:NM_000093:exon65:c.C5270T:p.T1757M	Ehlers-Danlos syndrome, classic type, Autosomal dominant	.	0	1494	28	0	0	28	0.00928382	.	.	140617	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome|Ehlers-Danlos_syndrome_type_7A|Ehlers-Danlos_syndrome,_classic_type|Ehlers-Danlos_syndrome,_classic_type,_1|Fibromuscular_dysplasia,_multifocal|not_provided|not_specified	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MONDO:MONDO:0020521,MedGen:C3508773|MONDO:MONDO:0007522,MedGen:C4225429,Orphanet:287|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000|MONDO:MONDO:0859151,MedGen:C5543412,OMIM:619329|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.995	D	0.778	P	0.007	U	0.882	N	2.89	M	-0.85	T	-0.679	T	0.058	T	0.309	2.964	15.88	5.03	2.340	1.954	18.364	0.451	.	0.0014	0.0269569	0.0121	0.0009	0.0116	0.0882	0.0005	0.0019	0.0103	0.0249	0.0112806	1744	154602	rs2229817	0.0049	0.0049	0.0044	0.0053	0.0795	0.0048	0.0047	0.0772	0.0762	0.0006	0.0086	0.0148	0.0795	0.0003	0.0040	0.0006	0.0097	0.0220	0.0050	0.0051	0.0044	0.0057	0.0917	0.0047	0.0046	0.0849	0.0822	0.0008	0	0.0026	0.0127	0.0917	0.0002	0	0.0009	0.0057	0.0211	0.008	0.58626	D	0.044	0.49942	D	0.995	0.67487	D	0.778	0.57212	P	0.007178	0.31557	U	0.261183	0.882265	0.28028	N	2.655	0.77738	M	-0.85	0.74371	T	-2.2	0.49519	N	0.185	0.31365	-0.6790	0.61419	T	0.058	0.24317	T	10	0.0027009249	0.00042	T	.	.	.	0.451	0.75143	.	.	.	.	0.4858146501938287	0.48501	0.306892659518	0.32992	0.561442613602	0.47472	T	0.572343	0.85861	D	-0.380576	0.03090	T	-0.243791	0.50428	T	0.012884577986513	0.00221	T	0.918208	0.70605	D	0.31913874	0.54567	0.35206926	0.60791	0.3935818	0.60285	0.28474456	0.54473	-8.279	0.62955	D	0.26940633294760913	0.36267	0.091	0.19357	B	.;.	.;.	4.405581	0.68111	25.2	0.99758358737992425	0.84851	0.84546	0.43629	D	AEFDGBI	0.236355	0.35881	N	0.637509601434317	0.75562	6.328087	0.588344727769782	0.74101	6.080413	0.999899576348115	0.45129	0.67177	0.52595	0	0.659464	0.62310	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.03	5.03	0.67015	2.331000	0.43552	3.899000	0.40339	0.599000	0.40250	0.994000	0.38300	0.999000	0.35428	0.965000	0.52897	0.0:1.0:0.0:0.0	18.364	0.90328	805	0.43675	Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.04762	4458.11	35	chr9	134835104	.	C	T	4458.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.04;DP=1089;ExcessHet=0.1072;FS=0.788;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.283;SOR=0.752	GT:AD:DP:GQ:PL	0/1:98,98:196:99:2329,0,2286	19	0	2	0
chr9	137030714	137030714	G	T	exonic	FUT7	.	nonsynonymous SNV	FUT7:NM_004479:exon2:c.C1025A:p.A342D,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.361	B	0.08	B	0.952	U	0.995	N	1.5	L	1.5	T	-1.016	T	0.070	T	0.111	0.830	8.346	2.92	0.805	0.407	10.044	0.027	0.021404458377	.	0.000399361	0.0003	0	8.892e-05	0	0	3.155e-05	0	0.0019	0.0002329	36	154602	rs541065313	6.642e-05	6.772e-05	4.36e-05	8.947e-05	0.0010	5.567e-05	5.157e-05	0.0008	0.0008	0	0	0	0	0	0.0003	8.994e-07	0.0001	0.0010	4.596e-05	4.593e-05	3.855e-05	5.372e-05	0.0012	2.108e-05	1.526e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.47e-05	0	0.0012	0.006	0.61437	D	0.013	0.63109	D	0.361	0.33905	B	0.08	0.28873	B	0.952178	0.07663	U	1.027940	0.994801	0.23439	N	1.935	0.51832	L	1.5	0.31205	T	-1.11	0.28703	N	0.274	0.31027	-1.0165	0.24852	T	0.070	0.28577	T	10	0.0113886	0.00249	T	0.021404	0.44174	T	0.027	0.05988	0.403	0.43408	0.082315109003	0.07666	0.3499250841954162	0.34906	0.722767165993	0.62308	0.487100422382	0.37038	T	0.05367	0.29507	T	-0.512535	0.00486	T	-0.549531	0.17370	T	0.0899118198913524	0.11208	T	0.59994	0.22366	T	0.21400747	0.43794	0.29673532	0.55707	0.21400747	0.43794	0.29673532	0.55706	-5.075	0.37643	T	.	.	0.175	0.38263	B	.	.	2.286830	0.29245	18.06	0.98514840425302119	0.42386	0.24659	0.22462	N	ALL	0.233717	0.35660	N	-0.584019628047489	0.19429	1.016837	-0.587012419053291	0.19831	1.065782	0.999999999998535	0.74766	0.403107	0.06075	0	0.573149	0.20659	1	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.83	2.92	0.32998	0.287000	0.18678	1.834000	0.29138	-0.156000	0.11795	0.010000	0.18352	0.930000	0.28522	0.657000	0.32885	0.0:0.0:0.6341:0.3659	10.044	0.41345	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1450.98	34	chr9	137030714	.	G	T	1450.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.124e+00;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=-1.199e+00;SOR=0.660	GT:AD:DP:GQ:PL	0/1:61,57:118:99:1465,0,1587	20	0	1	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	0/1:91,51:142:99:541,0,1523	5	0	16	0
chr10	3135825	3135825	C	A	exonic	PFKP	.	nonsynonymous SNV	PFKP:NM_001323070:exon15:c.C1411A:p.Q471K	.	.	434	1047	39	2	0	43	0.0201217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.001	B	0.001	B	0.002	N	0.979	N	0.345	N	-0.97	T	-1.016	T	0.025	T	0.271	1.392	10.59	0.742	0.142	2.545	7.799	0.020	.	0.0016	0.00638978	0.0034	0.0005	0.0045	0	0	0.0019	0.0044	0.0136	0.0032665	505	154602	rs1804254	0.0023	0.0023	0.0018	0.0027	0.0139	0.0022	0.0022	0.0133	0.0130	0.0003	0.0046	0.0020	0	0.0002	0.0099	0.0014	0.0032	0.0139	0.0023	0.0023	0.0021	0.0026	0.0135	0.0021	0.0020	0.0109	0.0099	0.0005	0	0.0078	0.0014	0.0002	0	0.0102	0.0019	0.0076	0.0135	0.281	0.18691	T	0.279	0.21745	T	0.0	0.02946	B	0.0	0.01387	B	0.001530	0.38731	N	0.282681	0.97893	0.25216	N	1.56	0.39490	L	-1.28	0.79475	T	-1.09	0.38151	N	0.214	0.31478	-1.0157	0.25110	T	0.025	0.10866	T	10	0.007251948	0.00165	T	.	.	.	0.169	0.43123	.	.	0.617109349803	0.61401	0.5715476712037727	0.57082	0.245553725906	0.27076	0.319565057755	0.13355	T	0.189656	0.54395	T	-0.397201	0.02415	T	-0.331652	0.41285	T	0.00488657485751936	0.00052	T	0.645735	0.26930	T	0.1270293	0.29737	0.08154157	0.18539	0.1270293	0.29737	0.08154157	0.18539	-8.362	0.64852	D	.	.	0.089	0.12181	B	.;.;.	.;.;.	1.951134	0.24781	16.52	0.89643019086762443	0.18974	0.76491	0.37519	D	AEFBCI	0.273064	0.38855	N	-0.549113492516175	0.20512	1.081822	-0.551418355968868	0.20768	1.120472	0.998767270567485	0.37623	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.92	0.742	0.17490	2.628000	0.46143	0.622000	0.20140	-0.153000	0.12021	0.999000	0.42656	0.005000	0.19230	0.465000	0.28230	0.1415:0.2524:0.6061:0.0	7.799	0.28328	976	0.04745	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	2735.66	34	chr10	3135825	.	C	A	2735.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.82;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=19.27;ReadPosRankSum=-1.053e+00;SOR=0.669	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1678,165,0	19	1	1	0
chr10	4830696	4830696	G	A	exonic	AKR1E2	.	nonsynonymous SNV	AKR1E2:NM_001040177:exon2:c.G61A:p.E21K	.	.	431	1079	11	1	0	13	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.819	P	0.229	B	0.027	N	0.983	N	0.93	L	2.24	T	-1.031	T	0.063	T	0.271	1.525	11.05	-1.24	-0.232	1.784	5.023	0.059	.	0.0004	0.00219649	0.0020	0.0003	0.0005	0	0.0005	0.0006	0.0011	0.0117	0.0017529	271	154602	rs111857204	0.0011	0.0011	0.0008	0.0014	0.0113	0.0010	0.0010	0.0107	0.0105	0.0004	0.0004	0	0	0.0003	0.0055	0.0004	0.0013	0.0113	0.0007	0.0007	0.0005	0.0009	0.0118	0.0006	0.0005	0.0094	0.0085	7.22e-05	0	0.0001	0	0	0.0002	0.0034	0.0006	0.0005	0.0118	0.044	0.53172	D	0.094	0.49663	T	0.535	0.37805	P	0.229	0.38155	B	0.026722	0.25870	N	0.401767	0.98285	0.24931	N	0.36	0.11994	N	0.7	0.51474	T	-3.04	0.62863	D	0.314	0.41754	-1.0313	0.20034	T	0.063	0.26244	T	10	0.009253293	0.00209	T	.	.	.	0.059	0.16972	.	.	0.410734915765	0.40690	0.6114099410288499	0.61072	0.124813072695	0.14060	0.333933621645	0.15526	T	0.029026	0.23939	T	-0.486097	0.00683	T	-0.460633	0.26530	T	0.0231504563305682	0.01041	T	0.905209	0.66592	D	0.31343952	0.54082	0.19461846	0.43094	0.31343952	0.54082	0.19461846	0.43093	-6.474	0.53946	T	.	.	0.105	0.19114	B	.;.;.;.;.	.;.;.;.;.	1.899211	0.24122	16.28	0.99441545312632951	0.64770	0.62896	0.31921	D	AEFDBI	0.157981	0.28357	N	-0.676103376624	0.16704	0.8533712	-0.753676146922622	0.15632	0.8231046	0.99995716506675	0.48110	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.95	-1.24	0.08948	2.088000	0.41287	0.692000	0.20773	0.588000	0.31329	0.468000	0.26706	0.107000	0.22748	0.511000	0.29267	0.3675:0.1488:0.4838:0.0	5.023	0.13712	982	0.03397	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	748.98	37	chr10	4830696	.	G	A	748.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=765;ExcessHet=0.0000;FS=8.563;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.40;ReadPosRankSum=0.680;SOR=0.209	GT:AD:DP:GQ:PL	0/1:42,30:72:99:763,0,1100	20	0	1	0
chr10	7563280	7563280	C	T	exonic	ITIH5	.	nonsynonymous SNV	ITIH5:NM_032817:exon10:c.G1990A:p.V664I	.	.	432	1067	20	3	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.024	B	0.025	B	0.782	N	1.000	N	.	.	2.79	T	-0.960	T	0.010	T	0.052	0.625	7.363	-10.8	-2.117	-0.876	13.653	0.028	.	0.0021	0.00519169	0.0045	0.0010	0.0016	0.0051	0.0003	0.0033	0.0044	0.0154	0.0043143	667	154602	rs138658798	0.0039	0.0039	0.0035	0.0044	0.0149	0.0039	0.0038	0.0142	0.0139	0.0012	0.0016	0.0011	0.0026	0.0003	0.0061	0.0035	0.0039	0.0149	0.0027	0.0027	0.0030	0.0025	0.0137	0.0025	0.0024	0.0110	0.0101	0.0010	0	0.0020	0.0009	0.0062	0.0004	0.0102	0.0034	0.0038	0.0137	.	.	.	0.567	0.08900	T	.	.	.	.	.	.	0.782441	0.09460	N	0.906581	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.016	0.00407	-0.9602	0.39143	T	0.010	0.03811	T	9	0.021475136	0.00515	T	.	.	.	.	.	.	.	0.1749357433	0.17121	0.2870433734980243	0.28617	.	.	0.241345494986	0.02912	T	0.001231	0.04646	T	-0.697012	0.00038	T	-0.761012	0.03077	T	0.00723123551724704	0.00083	T	0.483852	0.14720	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.02702	B	.;.	.;.	-1.301439	0.00437	0.009	0.30549303357370555	0.01677	0.02100	0.06226	N	AEFBI	0.095844	0.19358	N	-1.79139561895942	0.00566	0.024	-1.92933632022292	0.00428	0.01892974	0.999999842213881	0.74766	0.626454	0.40138	0	0.563428	0.19063	0	0.80507	0.99327	0	0.542086	0.14980	0	.	.	5.66	-10.8	0.00171	-0.832000	0.04507	-7.356000	0.01174	-1.547000	0.00968	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.0984:0.1549:0.7467	13.653	0.61795	976	0.04745	Inter-alpha-trypsin inhibitor heavy chain, C-terminal;Inter-alpha-trypsin inhibitor heavy chain, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2147.98	61	chr10	7563280	.	C	T	2147.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.936;DP=1417;ExcessHet=0.0000;FS=4.353;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=0.287;SOR=0.437	GT:AD:DP:GQ:PL	0/1:92,86:178:99:2162,0,2240	20	0	1	0
chr10	14908710	14908710	G	C	exonic	DCLRE1C	.	nonsynonymous SNV	DCLRE1C:NM_001289076:exon12:c.C1432G:p.Q478E	Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, Athabascan type, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.007	B	0.018	B	0.092	N	1.000	D	2.045	M	1.83	T	-0.991	T	0.074	T	0.145	2.128	13.07	3.09	0.388	3.001	12.720	0.061	0.0112720859889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.006	0.14184	B	0.018	0.18489	B	0.091744	0.20309	N	0.464654	0.753722	0.81001	D	2.565	0.75005	M	1.83	0.24841	T	-0.69	0.41046	N	0.262	0.34120	-0.9905	0.32475	T	0.074	0.29739	T	10	0.11138207	0.20855	T	0.011272	0.28723	T	0.061	0.17616	0.324	0.30549	0.162503812791	0.15892	0.22021313540207138	0.21937	0.0953587799458	0.10770	0.319591164589	0.13359	T	0.175356	0.52491	T	-0.163187	0.26271	T	-0.472183	0.25281	T	0.599336326122284	0.36374	D	0.717528	0.33029	T	0.20613658	0.42778	0.21629333	0.46251	0.20613658	0.42778	0.21629333	0.46250	-2.44	0.05514	T	0.1596466603897028	0.19424	0.067	0.03162	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.135607	0.27195	17.38	0.98373524023164716	0.40770	0.94142	0.60239	D	AEFGBCI	0.269867	0.38605	N	-0.379349038958607	0.26205	1.428462	-0.291925089173545	0.28364	1.580934	0.990147298710468	0.32054	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	6.07	3.09	0.34677	2.939000	0.48687	5.012000	0.46677	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0:0.2364:0.6407:0.1229	12.720	0.56509	531	0.73574	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	6175.98	42	chr10	14908710	.	G	C	6175.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.391;DP=1412;ExcessHet=0.0000;FS=1.094;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=0.717;SOR=0.758	GT:AD:DP:GQ:PL	0/1:216,227:443:99:6190,0,5756	20	0	1	0
chr10	16831390	16831390	G	C	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon65:c.C10390G:p.P3464A,	Megaloblastic anemia-1, Finnish type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3415623	Proteinuria,_chronic_benign	MONDO:MONDO:0030042,MedGen:C5394384,OMIM:618884	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.984	D	0.016	N	1.000	D	2.34	M	1.25	T	-0.590	T	0.232	T	0.607	3.848	19.55	4.6	2.378	8.896	17.584	0.401	0.0257171484592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.0	0.92824	D	0.999	0.77913	D	0.984	0.76113	D	0.015732	0.28167	N	0.169083	0.99999	0.58761	D	2.535	0.73915	M	1.25	0.36512	T	-4.34	0.76822	D	0.693	0.69825	-0.5900	0.65221	T	0.232	0.59842	T	10	0.824271	0.81614	D	0.025717	0.48675	D	0.401	0.71479	0.638	0.77470	0.738898308675	0.73656	0.6328118775062078	0.63215	0.44134038575	0.44124	0.512055754662	0.40510	T	0.176605	0.52661	T	0.0109107	0.53149	T	-0.222104	0.52534	T	0.987704873085022	0.78149	D	0.780122	0.41468	T	0.19098033	0.40707	0.16383526	0.37986	0.19098033	0.40706	0.16383526	0.37985	-5.756	0.44189	T	0.8601656872923351	0.92384	0.090	0.12750	B	.	.	4.317380	0.66045	24.9	0.99308597412739674	0.58906	0.99645	0.98295	D	AEFBI	0.877106	0.80153	D	0.644045445922365	0.75982	6.403545	0.532888383991014	0.70217	5.472678	0.999999999995034	0.74766	0.653281	0.48532	0	0.610034	0.51514	0	0.573888	0.23631	0	0.669	0.65921	0	.	.	4.6	4.6	0.56512	8.794000	0.91495	8.595000	0.77703	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	17.584	0.87875	917	0.20147	CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1201.98	34	chr10	16831390	.	G	C	1201.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.523;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.84;ReadPosRankSum=1.49;SOR=0.757	GT:AD:DP:GQ:PL	0/1:34,47:81:99:1216,0,825	20	0	1	0
chr10	24533161	24533161	C	T	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_001282769:exon11:c.C2387T:p.P796L	.	.	424	1092	6	0	0	6	0.00273973	.	.	712303	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.25	M	0.37	T	-0.354	T	0.344	T	0.719	4.400	23.3	5.5	2.758	2.464	15.248	0.204	.	7.7e-05	0.014377	0.0065	0.0002	8.643e-05	0.0001	0.0002	1.501e-05	0.0066	0.0469	0.0056791	878	154602	rs374052578	0.0026	0.0026	0.0015	0.0037	0.0418	0.0026	0.0025	0.0407	0.0402	0.0001	2.237e-05	3.826e-05	0.0002	0	0.0027	2.518e-05	0.0029	0.0418	0.0014	0.0014	0.0008	0.0019	0.0421	0.0012	0.0012	0.0374	0.0356	4.813e-05	0	6.542e-05	0	0.0002	0	0	0	0.0005	0.0421	0.001	0.78490	D	0.014	0.74150	D	0.985	0.90584	D	0.535	0.92359	P	0.000168	0.48594	D	0.183352	0.999998	0.58761	D	3.225	0.89467	M	0.37	0.57729	T	-4.45	0.77717	D	0.25	0.29659	-0.3542	0.73432	T	0.344	0.70956	T	10	0.003152907	0.00053	T	.	.	.	0.204	0.49076	.	.	0.733941746038	0.73157	0.31898618305290777	0.31811	0.453264928441	0.45020	0.383235931396	0.22715	T	0.622218	0.88174	D	-0.199018	0.20947	T	-0.0257958	0.68647	D	0.207521250215213	0.20823	T	0.920508	0.71260	D	0.20416829	0.42518	0.2791307	0.53879	0.20416829	0.42518	0.2791307	0.53878	-7.646	0.65491	D	.	.	0.068	0.05756	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.533528	0.49592	22.8	0.99885938527651286	0.96126	0.82877	0.42047	D	AEFDBI	0.377119	0.46101	N	0.23706804721704	0.53002	3.471266	0.213978792614642	0.50622	3.252374	0.999999719723584	0.74766	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.668105	0.65232	0	.	.	5.5	5.5	0.81386	3.343000	0.51884	3.747000	0.39671	0.599000	0.40250	0.939000	0.32602	0.997000	0.33255	0.402000	0.26827	0.0:1.0:0.0:0.0	15.248	0.73212	936	0.14734	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2389.11	34	chr10	24533161	.	C	T	2389.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.66;DP=865;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=0.890;SOR=0.663	GT:AD:DP:GQ:PL	0/1:43,54:97:99:1342,0,1030	19	0	2	0
chr10	35608199	35608199	G	A	exonic	GJD4	.	nonsynonymous SNV	GJD4:NM_153368:exon2:c.G686A:p.G229E,	.	.	406	1099	16	1	0	18	0.00812274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	0.675	P	0.163	B	0.090	N	1.000	N	0.695	N	-4.47	D	0.161	D	0.724	D	0.155	1.918	12.37	1.12	0.501	0.566	6.478	0.298	0.0496399882724	.	0.00139776	0.0012	0	0	0	0	0.0002	0.0053	0.0054	0.0005498	85	154602	rs538629092	0.0003	0.0003	0.0002	0.0005	0.0046	0.0003	0.0003	0.0042	0.0041	0.0002	0.0003	0	0	0	0.0031	2.804e-05	0.0006	0.0046	0.0004	0.0004	0.0003	0.0006	0.0062	0.0004	0.0003	0.0045	0.0039	7.228e-05	0	0.0020	0	0.0002	0	0	2.942e-05	0.0005	0.0062	0.646	0.04912	T	0.779	0.04344	T	0.675	0.41275	P	0.163	0.34892	B	0.090348	0.02448	N	1.834020	1	0.08975	N	1.59	0.40313	L	-4.47	0.97583	D	-0.98	0.25986	N	0.121	0.11197	0.161	0.85240	D	0.724	0.90543	D	10	0.004319817	0.00087	T	0.04964	0.63902	D	0.298	0.61843	0.294	0.25720	0.561027722634	0.55763	0.3377256414981641	0.33685	0.357799759759	0.37491	0.339733570814	0.16399	T	0.061685	0.31720	T	-0.301089	0.08558	T	-0.203903	0.54275	T	0.00968756193926473	0.00126	T	0.336266	0.07184	T	0.035647098	0.04236	0.052975927	0.08833	0.035647098	0.04236	0.052975927	0.08832	-3.909	0.22438	T	.	.	0.114	0.22573	B	.	.	1.160027	0.15487	11.89	0.90125036704138561	0.19405	0.02276	0.06567	N	AEFDBI	0.044468	0.07156	N	-0.858748689427508	0.11835	0.573381	-0.926619864055949	0.11466	0.5843499	0.999950510641473	0.48110	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.554799	0.18163	0	.	.	4.76	1.12	0.19700	1.581000	0.36167	0.505000	0.19029	0.575000	0.29119	0.007000	0.17678	0.000000	0.08366	0.000000	0.00833	0.0:0.1727:0.4157:0.4116	6.478	0.21248	733	0.53988	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1571.98	33	chr10	35608199	.	G	A	1571.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.141e+00;DP=877;ExcessHet=0.0000;FS=1.439;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=-2.530e-01;SOR=0.550	GT:AD:DP:GQ:PL	0/1:59,65:124:99:1586,0,1490	20	0	1	0
chr10	42593386	42593386	A	C	exonic	ZNF33B	.	nonsynonymous SNV	ZNF33B:NM_001305033:exon4:c.T1585G:p.L529V	.	.	10	1508	4	0	0	4	0.0013245	.	.	752089	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.421	B	0.356	B	0.023	N	1.000	N	-0.915	N	2.29	T	-1.039	T	0.016	T	0.193	1.602	11.31	1.43	0.425	2.941	2.945	0.107	0.00152808705804	0.0005	.	0.0004	0	0.0005	0	0	0.0006	0	0	0.0003299	51	154602	rs138366584	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	5.977e-05	0.0005	0.0074	0	0	0.0003	6.385e-05	0.0007	2.319e-05	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	0	0	0.0008	0.0058	0	0	0.0034	8.835e-05	0.0005	0	0.159	0.23813	T	0.073	0.44905	T	0.421	0.35387	B	0.356	0.43023	B	0.023069	0.26512	N	0.000000	0.999882	0.19853	N	-0.17	0.04298	N	2.29	0.17113	T	0.43	0.03297	N	0.055	0.02658	-1.0391	0.17587	T	0.016	0.06664	T	10	0.0051232576	0.00111	T	0.001528	0.02394	T	0.107	0.30369	.	.	0.209622950755	0.20551	0.0384689027870453	0.03792	0.180274561586	0.20283	0.458303391933	0.33077	T	0.017458	0.14244	T	-0.496509	0.00598	T	-0.596944	0.13069	T	0.0488119634043635	0.05290	T	0.105489	0.00786	T	0.07274043	0.16204	0.042837147	0.05193	0.07274043	0.16203	0.042837147	0.05193	-2.259	0.04336	T	.	.	0.108	0.20469	B	.;.	.;.	0.848880	0.12210	8.755	0.99297288943539319	0.58505	0.00145	0.00883	N	AEFDGBHCI	0.058170	0.10892	N	-0.385433477021783	0.25987	1.41488	-0.297084843584519	0.28194	1.570055	0.0451006018820213	0.14638	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	2.58	1.43	0.21585	1.509000	0.35387	.	.	0.466000	0.21733	0.015000	0.19116	0.000000	0.08366	0.969000	0.54022	0.5897:0.2611:0.1492:0.0	2.945	0.05486	.	.	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	1614.98	34	chr10	42593386	.	A	C	1614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.12;DP=849;ExcessHet=0.0000;FS=8.454;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-1.980e-01;SOR=1.257	GT:AD:DP:GQ:PL	0/1:65,56:121:99:1629,0,1728	20	0	1	0
chr10	52251583	52251583	G	C	exonic	PRKG1	.	nonsynonymous SNV	PRKG1:NM_001098512:exon10:c.G1045C:p.A349P	Aortic aneurysm, familial thoracic 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.167	B	0.077	B	0.000	D	1.000	D	0	N	-0.32	T	-0.933	T	0.162	T	0.522	2.592	14.63	6.14	2.927	7.177	20.414	0.159	0.0119708549921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.023e-05	0.0003	3.282e-05	2.761e-05	3.525e-05	2.291e-05	2.041e-05	2.639e-05	2.317e-05	3.003e-05	0	0	0	0	0	3.525e-05	1.662e-05	3.484e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285	0.15251	T	0.288	0.21144	T	0.167	0.28604	B	0.058	0.28532	B	0.000011	0.62929	D	0.114641	0.999121	0.81001	D	0	0.06538	N	-0.33	0.68329	T	-0.83	0.22727	N	0.414	0.47208	-0.9328	0.43725	T	0.162	0.49831	T	10	0.30753535	0.48255	T	0.011971	0.30115	T	0.159	0.41286	0.321	0.30064	0.324576393752	0.32066	0.9524779227595346	0.95231	0.819110548624	0.67075	0.782701611519	0.79336	T	0.263933	0.63566	T	0.017917	0.54100	T	-0.21204	0.53501	T	0.907704830169678	0.56207	D	0.955504	0.83071	D	0.87653315	0.89385	0.6861728	0.81546	0.87653315	0.89386	0.6861728	0.81547	-7.179	0.55330	T	0.10410051706711128	0.08104	0.857	0.80167	P	.;.;.;.	.;.;.;.	4.002256	0.58976	24.0	0.98901116092730812	0.48181	0.97233	0.73478	D	AEFBI	0.923468	0.89999	D	0.0294236492756106	0.43196	2.617364	0.291304482441213	0.55029	3.666609	0.999999975426614	0.74766	0.693126	0.56070	0	0.547309	0.14657	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	6.14	6.14	0.99173	7.252000	0.77731	11.902000	0.99384	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.414	0.99027	870	0.31527	.;.;.;.	.	.	.	.	.	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	90.11	49	chr10	52251583	.	G	C	90.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.860e+00;DP=1271;ExcessHet=0.1072;FS=269.272;InbreedingCoeff=-0.0499;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=1.31;SOR=9.898	GT:AD:DP:GQ:PL	0/1:69,26:95:24:24,0,1628	19	0	2	0
chr10	60083607	60083607	C	G	exonic	ANK3	.	nonsynonymous SNV	ANK3:NM_001149:exon11:c.G1487C:p.G496A	.	.	452	1065	4	1	0	6	0.00280899	.	.	429103	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.002	N	1.000	D	2.765	M	0.87	T	-0.362	T	0.328	T	0.883	4.945	28.7	5.79	2.733	7.818	20.04	0.538	0.0518948491753	0.0002	0.00119808	0.0012	0.0003	0.0003	0	0	0.0004	0	0.0069	0.001022	158	154602	rs200556767	0.0006	0.0007	0.0004	0.0008	0.0063	0.0006	0.0006	0.0058	0.0056	6.149e-05	0.0003	0.0002	2.534e-05	0	0.0033	0.0003	0.0005	0.0063	0.0004	0.0004	0.0003	0.0005	0.0044	0.0003	0.0003	0.0029	0.0025	9.629e-05	0	6.539e-05	0.0003	0.0004	0	0	0.0004	0.0009	0.0044	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.997	0.86255	D	0.001810	0.37945	N	0.000000	1	0.81001	D	2.74	0.80084	M	0.87	0.46412	T	-6.0	0.89534	D	0.858	0.85449	-0.3620	0.73204	T	0.328	0.69631	T	10	0.017237455	0.00367	T	0.051895	0.64849	D	0.538	0.80664	.	.	0.69041394292	0.68775	0.43922293027066994	0.43839	0.646741209007	0.58081	0.782076954842	0.79241	T	0.870653	0.97203	D	-0.0608426	0.42776	T	0.143274	0.79755	D	0.13357064427927	0.15708	T	0.938006	0.76748	D	0.7937433	0.83509	0.8476577	0.91347	0.7840392	0.82905	0.82843035	0.90083	-13.069	0.89645	D	0.7190347914133446	0.79999	0.743	0.74760	P	.;.;.;.	.;.;.;.	4.769228	0.77191	26.7	0.99777927415775358	0.86519	0.99236	0.93238	D	AEFGBI	0.933180	0.92468	D	0.938452237445583	0.93512	12.08876	0.90962125070518	0.95979	14.170	0.999999999977461	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.79	5.79	0.91751	7.905000	0.86479	5.955000	0.51719	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.04	0.97580	743	0.52768	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	852.98	33	chr10	60083607	.	C	G	852.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.71;DP=749;ExcessHet=0.0000;FS=3.663;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=-1.368e+00;SOR=1.279	GT:AD:DP:GQ:PL	0/1:32,31:63:99:867,0,752	20	0	1	0
chr10	67097639	67097639	T	G	exonic	LRRTM3	.	nonsynonymous SNV	LRRTM3:NM_178011:exon3:c.T1589G:p.I530R,	.	.	428	1086	7	1	0	9	0.00412655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.937	P	0.307	B	0.000	D	1.000	D	0.55	N	-1.05	T	-0.937	T	0.012	T	0.898	3.053	16.19	5.92	2.277	5.505	13.901	0.472	.	0.0009	0.0327476	0.0203	0.0018	0.0981	0.1200	0	0.0006	0.0166	0.0136	0.018415	2847	154602	rs75363119	0.0071	0.0071	0.0073	0.0069	0.1158	0.0070	0.0069	0.1130	0.1119	0.0011	0.0817	0.0016	0.1158	5.616e-05	0.0014	0.0002	0.0103	0.0138	0.0090	0.0091	0.0083	0.0098	0.1155	0.0086	0.0085	0.1078	0.1048	0.0022	0	0.0364	0.0017	0.1155	0	0	0.0003	0.0095	0.0172	0.001	0.78490	D	0.002	0.79402	D	0.937	0.52445	P	0.307	0.41295	B	0.000041	0.53742	D	0.000000	1	0.81001	D	0	0.06538	N	-1.05	0.76690	T	-0.64	0.18670	N	0.196	0.21580	-0.9372	0.43057	T	0.012	0.04416	T	10	0.0018042326	0.00024	T	.	.	.	0.472	0.76554	.	.	.	.	0.7003064853888085	0.69971	1.39225362655	0.85025	0.670892000198	0.62964	T	0.021226	0.16569	T	-0.0789228	0.39890	T	0.210573	0.83695	D	0.0332838065825495	0.02518	T	0.79842	0.44325	T	0.35678914	0.57591	0.49094325	0.70551	0.35678914	0.57591	0.49094325	0.70551	-3.117	0.11492	T	.	.	0.160	0.35267	B	.	.	3.855411	0.55878	23.7	0.98582945724144566	0.43271	0.94067	0.60012	D	AEFI	0.758560	0.69717	D	0.368239245615258	0.59710	4.152596	0.486632657040499	0.67105	5.039483	0.342021633387265	0.19594	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.92	5.92	0.95557	5.506000	0.66713	7.932000	0.75071	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.901	0.63310	962	0.08456	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1827.98	35	chr10	67097639	.	T	G	1827.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.96;DP=870;ExcessHet=0.0000;FS=0.560;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=0.884;SOR=0.612	GT:AD:DP:GQ:PL	0/1:109,73:182:99:1842,0,2665	20	0	1	0
chr10	70142718	70142718	C	G	exonic	TYSND1	.	nonsynonymous SNV	TYSND1:NM_173555:exon3:c.G1433C:p.S478T,	.	.	414	1107	1	0	0	1	0.000451467	.	.	2447315	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.36	T	0.312	B	0.171	B	0.001	N	1.000	D	1.27	L	-2.4	D	-0.084	T	0.562	D	0.131	2.070	12.88	5.21	2.710	2.414	16.281	0.213	0.0772697002794	0.0002	.	0.0002	0	0	0	0	0.0001	0	0.0006	9.7e-05	15	154602	rs147722950	0.0001	0.0001	8.721e-05	0.0001	0.0007	9.885e-05	9.293e-05	0.0006	0.0005	5.975e-05	2.254e-05	0	0	1.879e-05	0.0003	8.009e-05	0.0001	0.0007	9.855e-05	9.85e-05	7.707e-05	0.0001	0.0008	6.006e-05	4.879e-05	0.0003	0.0002	4.826e-05	0	0	0	0.0002	0	0	0.0001	0	0.0008	0.023	0.48186	D	0.042	0.50226	D	0.312	0.32836	B	0.171	0.35348	B	0.001223	0.39743	N	0.207894	1	0.81001	D	1.1	0.28011	L	-2.4	0.88455	D	-1.94	0.45042	N	0.384	0.42541	-0.0841	0.80462	T	0.562	0.84050	D	10	0.17646721	0.32632	T	0.07727	0.72730	D	0.213	0.50496	.	.	0.773876509559	0.77180	0.6289277434647972	0.62825	.	.	0.295575290918	0.09743	T	0.43163	0.77968	T	-0.28119	0.10542	T	-0.298955	0.44835	T	0.0370363395634294	0.03161	T	0.655934	0.26583	T	0.19049644	0.40637	0.16536029	0.38259	0.19049644	0.40637	0.16536029	0.38258	-6.889	0.53218	T	.	.	0.172	0.37690	B	.	.	3.122259	0.42153	21.5	0.98267002344077303	0.39722	0.45542	0.27562	N	AEFGBCI	0.143479	0.26618	N	-0.144372397209703	0.35475	2.038106	-0.0627548953095547	0.36943	2.156551	0.999999254212903	0.74766	0.706298	0.61202	0	0.643519	0.57511	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.21	5.21	0.72005	2.473000	0.44803	5.998000	0.52441	0.549000	0.26987	0.621000	0.27922	0.996000	0.32793	0.971000	0.54645	0.0:1.0:0.0:0.0	16.281	0.82514	302	0.87871	.	.	.	.	.	.	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	1084.98	33	chr10	70142718	.	C	G	1084.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.286e+00;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=0.824;SOR=0.770	GT:AD:DP:GQ:PL	0/1:45,47:92:99:1099,0,1077	20	0	1	0
chr10	70702363	70702363	C	T	exonic	ADAMTS14	.	nonsynonymous SNV	ADAMTS14:NM_080722:exon3:c.C574T:p.R192W	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.089	B	0.082	B	0.064	N	0.895	D	1.205	L	3.27	T	-1.004	T	0.006	T	0.18	2.794	15.30	-1.43	0.043	0.141	6.154	0.045	.	0.0002	0.00579073	0.0043	0	0.0107	0.0241	0.0059	0.0019	0.0111	0.0013	0.003868	598	154602	rs74797959	0.0018	0.0018	0.0018	0.0018	0.0322	0.0018	0.0017	0.0308	0.0302	5.974e-05	0.0094	0.0004	0.0322	0.0057	0.0007	0.0004	0.0019	0.0014	0.0024	0.0024	0.0017	0.0030	0.0247	0.0022	0.0021	0.0212	0.0199	7.217e-05	0	0.0081	0.0006	0.0247	0.0049	0	0.0006	0.0019	0.0019	0.101	0.30375	T	0.096	0.39492	T	0.075	0.24198	B	0.082	0.29098	B	0.064025	0.21981	N	0.409242	0.894792	0.36033	D	1.59	0.40313	L	3.27	0.06602	T	-4.81	0.81107	D	0.252	0.28498	-1.0041	0.28725	T	0.006	0.02018	T	10	0.008848399	0.00200	T	.	.	.	0.045	0.12272	.	.	0.254761474806	0.25079	0.562819768584376	0.56208	0.20091022214	0.22489	0.262042880058	0.05135	T	0.199564	0.55688	T	-0.615162	0.00118	T	-0.638829	0.09754	T	0.0520772327345857	0.05860	T	0.813919	0.46746	T	0.24138181	0.47053	0.33311367	0.59152	0.24138181	0.47053	0.33311367	0.59151	-8.651	0.65424	D	.	.	0.070	0.03515	B	.;.	.;.	1.978796	0.25141	16.65	0.99079668288537148	0.51930	0.74694	0.36546	D	AEFDBI	0.451637	0.50553	N	-0.565631889626246	0.19996	1.050869	-0.465595974323716	0.23108	1.258485	0.500512232774419	0.20938	0.568482	0.32641	0	0.573078	0.20572	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.93	-1.43	0.08418	0.146000	0.16000	-0.645000	0.08057	-0.944000	0.02069	0.948000	0.32982	0.005000	0.19230	0.955000	0.50612	0.174:0.486:0.0:0.34	6.154	0.19545	326	0.86709	.;Peptidase M12B, propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1955.98	35	chr10	70702363	.	C	T	1955.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.858;DP=841;ExcessHet=0.0000;FS=2.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-6.230e-01;SOR=0.728	GT:AD:DP:GQ:PL	0/1:72,83:155:99:1970,0,1554	20	0	1	0
chr10	71291811	71291811	C	G	exonic	UNC5B	.	nonsynonymous SNV	UNC5B:NM_001244889:exon9:c.C1641G:p.I547M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.687	P	0.54	P	0.000	D	0.871	D	1.475	L	0.89	T	-1.030	T	0.054	T	0.35	2.016	12.70	0.801	0.387	-0.033	5.792	0.081	.	.	0.00479233	0.0017	0	8.985e-05	0.0224	0	0	0	0	0.001533	237	154602	rs150945696	0.0005	0.0005	0.0005	0.0005	0.0161	0.0005	0.0004	0.0151	0.0147	5.99e-05	4.512e-05	0	0.0161	0	0.0002	3.609e-06	0.0009	5.883e-05	0.0009	0.0009	0.0009	0.0009	0.0251	0.0008	0.0007	0.0216	0.0203	9.62e-05	0	0	0	0.0251	0	0	0	0.0005	0.0004	0.24	0.17881	T	0.199	0.27679	T	0.687	0.41560	P	0.54	0.48825	P	0.000449	0.44317	D	0.187997	0.870756	0.35558	D	2.495	0.72670	M	0.89	0.45636	T	-1.36	0.35792	N	0.337	0.38746	-1.0305	0.20292	T	0.054	0.22959	T	10	0.008257061	0.00187	T	.	.	.	0.081	0.23632	.	.	0.550967595299	0.54754	0.5160986835634689	0.51532	0.50085204094	0.48485	0.701445937157	0.67353	T	0.105445	0.41592	T	-0.486821	0.00677	T	-0.447686	0.27952	T	0.0851217319889146	0.10629	T	0.771723	0.40231	T	0.12871882	0.30085	0.17604767	0.40113	0.12871882	0.30085	0.17604767	0.40112	-7.09	0.54688	T	.	.	0.168	0.48428	B	.;.	.;.	3.080513	0.41440	21.4	0.9914620121725185	0.53682	0.85850	0.45031	D	AEFDBI	0.400525	0.47537	N	-0.172966421341319	0.34264	1.953595	-0.19187863163676	0.31834	1.805316	0.998285450239358	0.36695	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	4.34	0.801	0.17822	-0.014000	0.12594	0.106000	0.14715	0.547000	0.25779	0.810000	0.29852	0.942000	0.28804	0.987000	0.62547	0.0:0.4949:0.1367:0.3684	5.792	0.17629	889	0.27310	ZU5 domain|ZU5 domain|ZU5 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	469.98	44	chr10	71291811	.	C	G	469.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.241;DP=737;ExcessHet=0.0000;FS=5.041;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=0.152;SOR=1.705	GT:AD:DP:GQ:PL	0/1:19,18:37:99:484,0,565	20	0	1	0
chr10	73240981	73240981	G	0	exonic	FAM149B1	.	.	.	.	.	431	911	149	5	26	185	0.0802625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	11177.05	95	chr10	73240981	.	G	A,*	11177.05	.	AC=10,2;AF=0.238,0.048;AN=42;BaseQRankSum=1.81;DP=1346;ExcessHet=0.7800;FS=0.000;InbreedingCoeff=0.0667;MLEAC=10,2;MLEAF=0.238,0.048;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=0.347;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,62,0:129:99:.:.:1399,0,1539,1600,1725,3324	11	2	6	0
chr10	74111964	74111964	C	T	exonic	VCL	.	nonsynonymous SNV	VCL:NM_014000:exon19:c.C2801T:p.A934V,	Cardiomyopathy, dilated, 1W;Cardiomyopathy, hypertrophic, 15	.	0	1517	5	0	0	5	0.00164528	.	.	54765	not_provided|not_specified|Dilated_cardiomyopathy_1W|Cardiomyopathy|Cardiovascular_phenotype|Hypertrophic_cardiomyopathy_15	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012667,MedGen:C1969639,OMIM:611407,Orphanet:154|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0013200,MedGen:C2750459,OMIM:613255	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.22	T	0.001	B	0.006	B	0.000	D	1.000	D	0.345	N	1.21	T	-1.099	T	0.004	T	0.369	0.770	8.069	5.28	1.635	2.550	10.335	0.061	.	0.0005	0.0217652	0.0121	0.0007	0.0382	0.0753	0.0324	0.0017	0.0121	0.0020	0.0109572	1694	154602	rs16931179	0.0046	0.0046	0.0049	0.0044	0.0728	0.0046	0.0045	0.0706	0.0697	0.0002	0.0313	0.0010	0.0728	0.0302	0.0009	0.0003	0.0061	0.0022	0.0076	0.0076	0.0055	0.0097	0.0771	0.0072	0.0070	0.0709	0.0684	0.0008	0	0.0165	0	0.0771	0.0337	0	0.0010	0.0057	0.0050	0.275	0.15770	T	0.297	0.20551	T	0.001	0.07471	B	0.006	0.12133	B	0.000157	0.49130	D	0.088708	0.85017	0.81001	D	0	0.06538	N	1.21	0.37230	T	-0.33	0.12472	N	0.085	0.06190	-1.0995	0.04152	T	0.004	0.01159	T	10	0.0017710626	0.00023	T	.	.	.	0.061	0.17616	.	.	.	.	0.33152553619381775	0.33065	0.0468982724462	0.05106	0.445290446281	0.31300	T	0.091517	0.38812	T	-0.481926	0.00721	T	-0.400799	0.33291	T	0.0084181822810174	0.00102	T	0.691931	0.30130	T	0.06426625	0.13619	0.085622184	0.19782	0.059488434	0.12097	0.07702797	0.17119	-4.128	0.25701	T	.	.	0.081	0.08465	B	.	.	2.536864	0.32808	19.15	0.47886843470563639	0.03951	0.82233	0.41492	D	AEFBCI	0.247468	0.36804	N	-0.18239695287995	0.33869	1.926416	0.0461966759324977	0.41888	2.524174	0.999837989462987	0.43792	0.631515	0.41029	0	0.379588	0.06130	0	0.697927	0.64325	0	0.636168	0.56350	0	.	.	6.17	5.28	0.74118	4.375000	0.59318	3.953000	0.40689	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.998000	0.85391	0.1343:0.7988:0.0:0.0668	10.335	0.43028	290	0.88477	.	.	.	.	.	rs16931179	Likely benign	0	0	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	2692.98	34	chr10	74111964	.	C	T	2692.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.338e+00;DP=953;ExcessHet=0.0000;FS=1.627;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=1.05;SOR=0.567	GT:AD:DP:GQ:PL	0/1:123,113:236:99:2707,0,3196	20	0	1	0
chr10	88913402	88913402	A	G	exonic	STAMBPL1	.	nonsynonymous SNV	STAMBPL1:NM_020799:exon6:c.A722G:p.H241R,	.	.	427	1093	2	0	0	2	0.000914077	.	.	2440918	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.48	T	0.0	B	0.002	B	0.048	N	0.999	N	0	N	2.04	T	-0.993	T	0.025	T	0.084	0.858	8.474	4.62	0.995	4.346	9.590	0.028	0.00460157451146	.	0.000199681	7.449e-05	0	0	0.0007	0	3.006e-05	0	6.14e-05	6.47e-05	10	154602	rs565075265	2.737e-05	2.736e-05	2.859e-05	2.613e-05	0.0003	2.063e-05	1.816e-05	0.0002	0.0002	0	0	0	0.0003	0	0.0002	8.095e-06	8.282e-05	0.0001	6.581e-05	6.566e-05	3.862e-05	9.425e-05	0.0012	3.522e-05	2.62e-05	0.0005	0.0003	0	0	0	0	0.0012	0	0	0	0.0005	0.0006	0.52	0.09543	T	0.523	0.10354	T	0.0	0.02946	B	0.0	0.06944	B	0.048171	0.23276	N	0.456339	0.998946	0.21775	N	1.39	0.34934	L	2.04	0.20959	T	0.69	0.02598	N	0.082	0.08366	-0.9934	0.31722	T	0.025	0.10553	T	10	0.019413859	0.00433	T	0.004602	0.11377	T	0.028	0.06331	0.159	0.06287	0.27132560031	0.26736	0.28903085050487226	0.28816	0.0875372861277	0.09878	0.34589356184	0.17316	T	5.24E-4	0.00201	T	-0.511449	0.00492	T	-0.629707	0.10436	T	0.0526284034284439	0.05956	T	0.537446	0.18074	T	0.08587969	0.19939	0.058546733	0.10836	0.08587969	0.19939	0.058546733	0.10835	-3.27	0.13353	T	.	.	0.063	0.02639	B	.;.;.;.	.;.;.;.	1.815471	0.23073	15.87	0.91822026750216523	0.21130	0.89215	0.49547	D	ALL	0.476700	0.52000	N	-0.360178678443282	0.26899	1.471723	-0.136884818929391	0.33918	1.945278	0.999999998063492	0.74766	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.75	4.62	0.56946	4.349000	0.59163	3.516000	0.38871	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.917000	0.45243	0.9195:0.0:0.0805:0.0	9.590	0.38706	819	0.41190	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1322.98	34	chr10	88913402	.	A	G	1322.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=857;ExcessHet=0.0000;FS=4.257;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=1.96;SOR=1.088	GT:AD:DP:GQ:PL	0/1:82,53:135:99:1337,0,2108	20	0	1	0
chr10	89223752	89223752	T	A	exonic	LIPA	.	nonsynonymous SNV	LIPA:NM_001288979:exon5:c.A406T:p.I136L	Cholesteryl ester storage disease, Autosomal recessive;Wolman disease, Autosomal recessive	.	0	1516	5	1	0	7	0.00230339	.	.	311638	Lysosomal_acid_lipase_deficiency|Wolman_disease|not_provided|LIPA-related_disorder|Cardiovascular_phenotype|not_specified	MONDO:MONDO:0800449,MedGen:C5574740,OMIM:PS278000,Orphanet:275761|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151,Orphanet:75233|MedGen:C3661900|.|MedGen:CN230736|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.95	T	0.001	B	0.006	B	0.003	N	1.000	N	1.03	L	0.17	T	-1.028	T	0.086	T	0.325	1.239	10.03	0.721	0.103	0.020	3.687	0.047	0.00848146266177	0.0015	0.000399361	0.0014	0.0002	0.0004	0	0	0.0023	0	0.0002	0.001423	220	154602	rs147493628	0.0023	0.0023	0.0023	0.0022	0.0027	0.0022	0.0022	0.0026	0.0026	0.0004	0.0006	0.0039	0	0.0001	0.0024	0.0027	0.0021	0.0003	0.0013	0.0013	0.0013	0.0013	0.0022	0.0011	0.0011	0.0019	0.0018	0.0005	0	0.0007	0.0035	0	0.0003	0	0.0022	0.0005	0	0.745	0.04699	T	0.746	0.06511	T	0.001	0.07471	B	0.006	0.12133	B	0.002747	0.36001	N	0.299032	1	0.19694	N	0.605	0.15622	N	0.17	0.60485	T	-0.01	0.11008	N	0.231	0.27197	-1.0284	0.20973	T	0.086	0.33494	T	10	0.009458542	0.00213	T	0.008481	0.22432	T	0.047	0.12962	0.544	0.65731	0.580672568948	0.57738	0.5897337130870519	0.58903	0.144847966637	0.16365	0.398825287819	0.24905	T	0.050044	0.28483	T	-0.448894	0.01146	T	-0.420632	0.31003	T	0.00310533395039721	0.00033	T	0.147285	0.02598	T	0.22154021	0.44733	0.08148738	0.18521	0.15402415	0.34883	0.059584994	0.11206	-3.534	0.17338	T	0.14553416486940646	0.16715	0.087	0.18372	B	.;.;.;.	.;.;.;.	0.646971	0.10153	6.897	0.90716873664476094	0.19966	0.10454	0.15956	N	AEFBI	0.176282	0.30348	N	-0.966512513025583	0.09325	0.4408941	-0.930386288092485	0.11379	0.5793299	0.651274902545906	0.22166	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.57	0.721	0.17373	-0.192000	0.09585	-3.157000	0.03012	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.994000	0.71098	0.1308:0.0744:0.1364:0.6584	3.687	0.07867	862	0.33134	Alpha/beta hydrolase fold-1;.;Alpha/beta hydrolase fold-1;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	1303.98	33	chr10	89223752	.	T	A	1303.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.79;DP=839;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=-7.720e-01;SOR=0.696	GT:AD:DP:GQ:PL	0/1:57,53:110:99:1318,0,1239	20	0	1	0
chr10	92645374	92645374	A	T	exonic	KIF11	.	nonsynonymous SNV	KIF11:NM_004523:exon18:c.A2279T:p.D760V,	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1017338	Microcephaly_with_or_without_chorioretinopathy,_lymphedema,_or_intellectual_disability	MONDO:MONDO:0007918,MedGen:C1835265,OMIM:152950,Orphanet:2526	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.025	B	0.012	B	0.029	N	1.000	D	0.975	L	-0.28	T	-0.905	T	0.174	T	0.532	0.261	5.410	4.28	0.996	1.847	8.289	0.269	0.0315323094256	.	.	8.687e-06	0	0	0	0	1.557e-05	0	0	6.5e-06	1	154602	rs778431479	2.06e-06	2.736e-06	2.733e-06	1.38e-06	2.707e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.268	0.22494	T	0.025	0.19245	B	0.012	0.16012	B	0.028861	0.25537	N	0.391181	0.999974	0.53665	D	2.08	0.57402	M	-0.28	0.67543	T	-1.71	0.40660	N	0.339	0.38027	-0.9048	0.47470	T	0.174	0.51753	T	10	0.1615372	0.30297	T	0.031532	0.53588	D	0.269	0.58381	0.305	0.27485	0.78337150305	0.78137	0.4219844732688109	0.42115	0.426311001703	0.43007	0.465039908886	0.34001	T	0.207168	0.56673	T	0.0139954	0.53569	T	-0.217673	0.52961	T	0.269843339920044	0.23740	T	0.663534	0.27241	T	0.103693046	0.24510	0.082842395	0.18938	0.103693046	0.24510	0.082842395	0.18937	-4.873	0.35430	T	0.15862312371920093	0.19233	0.088	0.11893	B	.	.	2.307311	0.29529	18.15	0.72815829482232486	0.10106	0.87807	0.47474	D	AEGBI	0.111593	0.22089	N	-0.365400240021957	0.26710	1.459827	-0.24619588319579	0.29902	1.679128	0.999865623998142	0.44398	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.41	4.28	0.50183	2.048000	0.40903	6.148000	0.54152	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.91:0.0:0.09:0.0	8.289	0.31106	518	0.74548	.	.	.	.	.	.	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	832.98	39	chr10	92645374	.	A	T	832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.111;DP=766;ExcessHet=0.0000;FS=2.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=1.44;SOR=0.968	GT:AD:DP:GQ:PL	0/1:40,31:71:99:847,0,1084	20	0	1	0
chr10	93663161	93663161	A	G	exonic	PDE6C	.	nonsynonymous SNV	PDE6C:NM_006204:exon21:c.A2501G:p.E834G,	Cone dystrophy 4, Autosomal recessive	.	0	1506	13	3	0	19	0.00626856	.	.	253923	not_specified|Cone_dystrophy_4|Achromatopsia|not_provided	MedGen:CN169374|MONDO:MONDO:0013129,MedGen:C2751308,OMIM:613093,Orphanet:49382|Human_Phenotype_Ontology:HP:0011516,MONDO:MONDO:0018852,MedGen:C0152200,Orphanet:49382|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.15	T	0.974	D	0.563	P	0.000	D	1.000	D	1.995	M	-1.05	T	-0.167	T	0.435	T	0.29	2.489	14.28	4.88	2.038	8.257	14.31	0.349	0.146264795559	0.0026	0.00119808	0.0022	0.0015	0.0017	0.0023	0	0.0025	0.0092	0.0025	0.0020051	310	154602	rs148661165	0.0025	0.0025	0.0024	0.0025	0.0024	0.0024	0.0024	0.0024	0.0023	0.0013	0.0014	0.0113	0.0008	0.0002	0.0023	0.0024	0.0041	0.0022	0.0022	0.0022	0.0023	0.0021	0.0043	0.0020	0.0019	0.0029	0.0024	0.0016	0	0.0020	0.0104	0.0043	0.0002	0	0.0024	0.0033	0.0010	0.027	0.46513	D	0.041	0.50514	D	0.974	0.57829	D	0.563	0.49647	P	0.000010	0.62929	D	0.146783	0.999982	0.54805	D	2.485	0.72352	M	-1.05	0.76690	T	-2.36	0.52128	N	0.551	0.57690	-0.1665	0.78512	T	0.435	0.77549	T	10	0.009043366	0.00205	T	0.146265	0.82839	D	0.349	0.67049	.	.	0.81012925684	0.80834	0.5338352801949692	0.53308	0.395339904105	0.40677	0.339487344027	0.16362	T	0.28744	0.66024	T	-0.312381	0.07540	T	-0.215375	0.53180	T	0.0334035889634961	0.02537	T	0.490351	0.15073	T	0.18712704	0.40154	0.2598989	0.51745	0.17072251	0.37664	0.2765439	0.53599	-4.718	0.33622	T	.	.	0.066	0.02313	B	.	.	3.824245	0.55237	23.6	0.99668016425738792	0.78394	0.99747	0.99164	D	AEFBI	0.892323	0.82914	D	0.504497503460906	0.67354	5.070623	0.489716495462951	0.67305	5.066533	0.998871454868189	0.37868	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	4.88	4.88	0.63131	8.527000	0.90409	9.126000	0.78857	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.860000	0.40782	1.0:0.0:0.0:0.0	14.31	0.65966	375	0.84013	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	854.98	34	chr10	93663161	.	A	G	854.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=0.739;SOR=0.797	GT:AD:DP:GQ:PL	0/1:36,33:69:99:869,0,882	20	0	1	0
chr10	95711957	95711957	A	G	exonic	ENTPD1	.	startloss	ENTPD1:NM_001098175:exon1:c.A1G:p.M1?,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.011	B	0.043	B	.	.	1.000	N	.	.	2.99	T	-0.984	T	0.022	T	0.239	0.003	4.029	0.458	0.454	0.268	.	0.050	0.0258532624206	.	.	.	.	.	.	.	.	.	.	.	.	.	rs919503156	1.027e-05	1.026e-05	1.09e-05	9.633e-06	2.99e-05	6.17e-06	4.89e-06	5.75e-06	4.55e-06	2.99e-05	0	0	2.519e-05	0	0	1.079e-05	1.658e-05	0	3.349e-05	0.0008	5.229e-05	1.374e-05	7.396e-05	1.279e-05	8.11e-06	1.961e-05	1.043e-05	7.396e-05	0	0	0	0	0	0	2.982e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.011	0.15914	B	0.043	0.24256	B	.	.	.	.	1	0.81001	D	.	.	.	2.99	0.09262	T	-0.01	0.07155	N	0.636	0.64903	-0.9843	0.33998	T	0.022	0.09147	T	7	0.9436738	0.93692	D	0.025853	0.48797	D	0.050	0.13987	0.995	0.99946	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.356997	0.04303	T	-0.581449	0.14417	T	0.0875836804388688	0.10928	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	-5.549	0.42324	T	.	.	.	.	.	.	.	1.019411	0.13987	10.55	0.53643955591518877	0.04980	0.00569	0.02581	N	AEFGBI	0.012711	0.00146	N	-0.881114104686083	0.11293	0.5441785	-1.01454963048692	0.09465	0.471041	0.00272844770582347	0.09662	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	0.458	0.458	0.15882	0.267000	0.18318	.	.	0.300000	0.18932	0.266000	0.25007	0.945000	0.28875	0.278000	0.23967	.	.	.	788	0.46569	.	.	.	.	.	.	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	0.1389	323.39	32	chr10	95711957	.	A	G	323.39	.	AC=5;AF=0.139;AN=36;BaseQRankSum=1.70;DP=633;ExcessHet=1.1607;FS=22.468;InbreedingCoeff=-0.1784;MLEAC=5;MLEAF=0.139;MQ=57.80;MQRankSum=-5.093e+00;QD=2.34;ReadPosRankSum=0.645;SOR=3.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,2:24:18:0|1:95711925_A_T:18,0,918:95711925	13	0	5	3
chr10	95711959	95711959	G	C	exonic	ENTPD1	.	startloss	ENTPD1:NM_001098175:exon1:c.G3C:p.M1?,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.011	B	0.043	B	.	.	1.000	N	.	.	2.97	T	-0.985	T	0.022	T	0.301	0.321	5.743	0.458	0.538	0.278	.	0.055	0.0243099664364	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433519358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0008	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.011	0.15914	B	0.043	0.24256	B	.	.	.	.	1	0.81001	D	.	.	.	2.97	0.09450	T	0.0	0.07008	N	0.693	0.69825	-0.9851	0.33808	T	0.022	0.09193	T	7	0.94950134	0.94283	D	0.02431	0.47297	T	0.055	0.15663	0.993	0.99924	0.0675242888579	0.06100	.	.	.	.	.	.	.	.	.	.	-0.217906	0.18280	T	-0.550783	0.17250	T	0.141772925853729	0.16427	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	-5.73	0.43959	T	.	.	.	.	.	.	.	0.932069	0.13072	9.577	0.96361290402127009	0.29550	0.00779	0.03201	N	AEFGBI	0.011946	0.00117	N	-0.858725517021361	0.11836	0.5734107	-0.993793893458475	0.09924	0.4966357	0.00285753038931223	0.09753	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	0.458	0.458	0.15882	0.280000	0.18550	.	.	0.272000	0.18543	0.255000	0.24900	0.876000	0.27648	0.265000	0.23644	.	.	.	788	0.46569	.	.	.	.	.	.	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	0.1389	404.05	34	chr10	95711959	.	G	C	404.05	.	AC=5;AF=0.139;AN=36;BaseQRankSum=0.673;DP=644;ExcessHet=1.1607;FS=19.869;InbreedingCoeff=-0.1851;MLEAC=6;MLEAF=0.167;MQ=57.78;MQRankSum=-5.316e+00;QD=2.87;ReadPosRankSum=0.611;SOR=2.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,2:24:18:0|1:95711925_A_T:18,0,918:95711925	13	0	5	3
chr10	95711973	95711973	A	-	exonic	ENTPD1	.	frameshift deletion	ENTPD1:NM_001098175:exon1:c.17delA:p.D6Afs*2,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs146056164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.601e-06	0.0018	0	1.351e-05	2.42e-05	0	0	.	.	2.42e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	686.4	34	chr10	95711972	.	GA	G	686.4	.	AC=5;AF=0.119;AN=42;BaseQRankSum=0.485;DP=713;ExcessHet=1.1607;FS=0.739;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=57.11;MQRankSum=-5.587e+00;QD=4.09;ReadPosRankSum=0.00;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,5:32:99:0|1:95711925_A_T:106,0,1098:95711925	16	0	5	0
chr10	95711979	95711979	C	G	exonic	ENTPD1	.	nonsynonymous SNV	ENTPD1:NM_001098175:exon1:c.C23G:p.T8R,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	423	1090	9	0	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.087	B	0.018	B	.	.	1.000	N	.	.	2.85	T	-0.985	T	0.019	T	0.082	-0.732	0.871	-0.916	-0.340	0.235	.	0.018	0.00180847012655	.	.	.	.	.	.	.	.	.	.	.	.	.	rs776554101	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0025	0.0001	0.0001	0.0001	6.73e-05	5.499e-05	6.466e-05	4.42e-05	0.0001	0	0	0	0	0.0002	0	0.0001	0.0005	0	0.116	0.28395	T	0.189	0.28575	T	0.087	0.24971	B	0.018	0.18489	B	.	.	.	.	1	0.08975	N	.	.	.	2.85	0.10578	T	-0.03	0.07444	N	0.159	0.16586	-0.9848	0.33879	T	0.019	0.07800	T	7	0.056895226	0.06450	T	0.001808	0.03115	T	0.018	0.03083	0.201	0.11522	0.0675242888579	0.06100	.	.	.	.	.	.	.	.	.	.	-0.364491	0.03883	T	-0.761343	0.03064	T	0.0465263334017623	0.04879	T	0.39886	0.10126	T	.	.	.	.	.	.	.	.	-3.096	0.11250	T	.	.	0.083	0.09191	B	.	.	0.323582	0.06979	3.532	0.70516184951874417	0.09321	0.00278	0.01504	N	AEFGBI	0.034974	0.04426	N	-1.1441077205401	0.05877	0.2691008	-1.29943115007538	0.04439	0.2093725	0.00278882824345698	0.09705	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	0.458	-0.916	0.09956	0.236000	0.17745	.	.	0.245000	0.18292	0.167000	0.23894	0.053000	0.21875	0.081000	0.17303	.	.	.	788	0.46569	.	.	.	.	.	.	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	0.1389	722.94	38	chr10	95711979	.	C	G	722.94	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-8.280e-01;DP=756;ExcessHet=1.1607;FS=1.533;InbreedingCoeff=-0.1834;MLEAC=6;MLEAF=0.167;MQ=57.11;MQRankSum=-5.592e+00;QD=4.15;ReadPosRankSum=-2.350e-01;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,5:33:99:0|1:95711925_A_T:103,0,1120:95711925	13	0	5	3
chr10	96223879	96223879	C	A	exonic	BLNK	.	nonsynonymous SNV	BLNK:NM_001114094:exon6:c.G472T:p.A158S	Agammaglobulinemia 4, Autosomal recessive	.	6	1478	36	2	0	40	0.0133511	.	.	247049	not_specified|Agammaglobulinemia_4,_autosomal_recessive|BLNK-related_disorder|not_provided	MedGen:CN169374|MONDO:MONDO:0013289,MedGen:C3150752,OMIM:613502|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.65	T	0.001	B	0.007	B	0.830	N	0.582	N	-1.23	N	.	.	-0.936	T	0.017	T	0.019	-0.153	3.251	-6.93	-0.772	-0.562	11.9	0.032	.	0.0055	0.00299521	0.0055	0.0009	0.0053	0	0.0088	0.0072	0.0110	0.0030	0.005388	833	154602	rs148612299	0.0052	0.0052	0.0050	0.0053	0.0167	0.0051	0.0050	0.0139	0.0129	0.0014	0.0077	0.0353	0	0.0054	0.0167	0.0047	0.0063	0.0033	0.0049	0.0049	0.0047	0.0052	0.0063	0.0046	0.0045	0.0053	0.0049	0.0010	0.0242	0.0063	0.0381	0	0.0083	0.0442	0.0049	0.0081	0.0010	0.552	0.07670	T	0.558	0.10714	T	0.0	0.07471	B	0.003	0.12992	B	0.830031	0.06936	N	1.065940	0.999994	0.08975	N	-0.595	0.02246	N	.	.	.	-0.71	0.20145	N	0.028	0.00618	-0.9360	0.43241	T	0.017	0.06998	T	9	0.002996534	0.00049	T	.	.	.	0.032	0.07718	.	.	0.209943299407	0.20609	0.1276476982693638	0.12690	0.292084130396	0.31614	0.303299188614	0.10895	T	0.296826	0.66944	T	-0.696312	0.00038	T	-0.769115	0.02797	T	0.00258914784501353	0.00027	T	0.531447	0.20104	T	0.038961124	0.05288	0.0503065	0.07868	0.0410187	0.05964	0.04487523	0.05910	-2.947	0.09999	T	.	.	0.065	0.02173	B	.;.;.	.;.;.	-0.616050	0.01528	0.098	0.4530442580867925	0.03546	0.00649	0.02827	N	AEFDBI	0.036936	0.04999	N	-1.70080143896076	0.00839	0.03628185	-1.68879537062121	0.01188	0.0534534	0.936619302429418	0.27262	0.67177	0.52595	0	0.702456	0.74545	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	5.49	-6.93	0.01480	-0.429000	0.07051	-0.222000	0.10754	-0.809000	0.03084	0.000000	0.06391	0.000000	0.08366	0.050000	0.15192	0.1491:0.6322:0.2187:0.0	11.9	0.51959	476	0.77720	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1660.98	39	chr10	96223879	.	C	A	1660.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.814e+00;DP=880;ExcessHet=0.0000;FS=0.613;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=-2.100e-01;SOR=0.779	GT:AD:DP:GQ:PL	0/1:73,72:145:99:1675,0,1786	20	0	1	0
chr10	102230897	102230897	A	G	exonic	PITX3	.	nonsynonymous SNV	PITX3:NM_005029:exon4:c.T526C:p.S176P,	Anterior segment dysgenesis 1, multiple subtypes, Autosomal dominant;Cataract 11, multiple types, Autosomal dominant;Cataract 11, syndromic, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.995	D	0.969	D	0.000	D	1.000	D	1.805	L	-2.66	D	0.667	D	0.791	D	0.9	3.930	20.0	4.46	1.642	9.125	13.755	0.869	0.633550451579	.	.	3.471e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs765679161	1.439e-05	1.436e-05	6.818e-06	2.204e-05	0.0002	9.25e-06	7.85e-06	8.908e-05	7.071e-05	0	0	0	0	0	0	7.199e-06	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.126	0.35205	T	0.995	0.67487	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.37	0.34214	L	-2.66	0.90272	D	-3.26	0.65397	D	0.898	0.89800	0.667	0.92755	D	0.791	0.92920	D	10	0.8762698	0.86918	D	0.63355	0.96859	D	0.869	0.96059	0.375	0.38830	0.931395963565	0.93069	0.67997391105063	0.67936	1.66538413369	0.89783	0.858225107193	0.90848	D	0.508002	0.82548	D	0.281904	0.81477	D	0.371709	0.91136	D	0.972467660903931	0.69709	D	0.911709	0.68653	D	0.81477904	0.84870	0.85822004	0.92057	0.81477904	0.84871	0.85822004	0.92058	-4.052	0.24579	T	.	.	0.309	0.53717	B	.;.	.;.	5.201275	0.87252	29.2	0.99624624975997667	0.75655	0.78253	0.38580	D	ALL	0.965920	0.98829	D	0.6403003852078	0.75742	6.360104	0.606902652685894	0.75438	6.310902	1.0	0.98316	0.437478	0.07067	0	0.606814	0.50340	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	4.46	4.46	0.53567	9.155000	0.93856	11.007000	0.84821	0.629000	0.51854	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	13.755	0.62418	417	0.81662	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2095.98	47	chr10	102230897	.	A	G	2095.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.090e-01;DP=899;ExcessHet=0.0000;FS=0.607;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.70;ReadPosRankSum=-7.810e-01;SOR=0.778	GT:AD:DP:GQ:PL	0/1:63,90:153:99:2110,0,1397	20	0	1	0
chr10	104353898	104353898	A	T	exonic	CFAP58	.	startloss	CFAP58:NM_001008723:exon1:c.A1T:p.M1?,	.	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.0	B	0.001	B	0.583	N	1.000	D	.	.	1.61	T	-1.089	T	0.059	T	0.863	2.218	13.37	3.42	0.855	4.100	7.281	0.276	0.0763399071054	7.7e-05	.	3.303e-05	0	0	0	0	4.507e-05	0	6.076e-05	2.59e-05	4	154602	rs200898309	1.985e-05	1.984e-05	1.362e-05	2.614e-05	0.0002	1.393e-05	1.204e-05	2.194e-05	1.43e-05	0	0	0	0	3.747e-05	0.0002	1.799e-05	1.657e-05	5.799e-05	5.258e-05	5.254e-05	3.854e-05	6.729e-05	8.822e-05	2.558e-05	1.831e-05	3.763e-05	2.576e-05	0	0	0	0	0	0.0002	0	8.822e-05	0	0	0.165	0.23271	T	0.343	0.17857	T	0.0	0.02946	B	0.001	0.04355	B	0.583236	0.11123	N	0.796966	0.999999	0.81001	D	.	.	.	1.61	0.28391	T	-1.18	0.30140	N	0.884	0.88246	-1.0893	0.05650	T	0.059	0.24539	T	9	0.66671795	0.70470	D	0.07634	0.72508	D	0.276	0.59253	0.963	0.99627	0.206339911435	0.20273	0.40713216472151265	0.40629	.	.	.	.	.	0.029111	0.20935	T	0.0957651	0.63832	D	-0.0365706	0.67931	D	0.962565898895264	0.66405	D	0.9	0.65058	D	0.36672702	0.58342	0.43915385	0.67277	0.36672702	0.58343	0.43915385	0.67277	-11.782	0.83772	D	.	.	.	.	.	.	.	5.229082	0.87771	29.4	0.91947960359363801	0.21274	0.55821	0.29961	D	AEFGBHCI	0.025193	0.01686	N	-0.185063388869124	0.33756	1.918738	-0.0615498643881479	0.36993	2.160191	0.999999998235115	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	4.57	3.42	0.38259	4.082000	0.57357	11.014000	0.84885	0.738000	0.86027	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.8949:0.0:0.1051:0.0	7.281	0.25484	131	0.94738	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1090.98	38	chr10	104353898	.	A	T	1090.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.198;DP=808;ExcessHet=0.0000;FS=3.393;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.49;ReadPosRankSum=0.543;SOR=1.007	GT:AD:DP:GQ:PL	0/1:66,49:115:99:1105,0,1601	20	0	1	0
chr10	110130462	110130462	G	A	exonic	ADD3	.	nonsynonymous SNV	ADD3:NM_001121:exon13:c.G1708A:p.E570K	Cerebral palsy, spastic quadriplegic, 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.994	D	0.746	P	0.000	D	1.000	D	1.935	M	1.97	T	-1.096	T	0.110	T	0.823	5.201	33	5.9	2.798	6.289	20.279	0.230	0.013057342915	.	.	4.946e-05	0.0003	0	0.0001	0	3e-05	0	0	3.88e-05	6	154602	rs767558945	1.163e-05	1.163e-05	9.531e-06	1.375e-05	0.0002	7.09e-06	5.79e-06	7.31e-06	5.72e-06	2.988e-05	2.237e-05	0	0	0	0.0002	1.259e-05	0	0	7.228e-05	7.22e-05	8.998e-05	5.377e-05	0.0002	3.971e-05	3.127e-05	7.881e-05	5.581e-05	0.0002	0	6.539e-05	0	0	0	0	4.412e-05	0	0	0.005	0.65419	D	0.025	0.61642	D	0.994	0.66517	D	0.746	0.55899	P	0.000024	0.55875	D	0.154579	0.999983	0.54805	D	3.13	0.88074	M	1.97	0.22067	T	-2.97	0.61865	D	0.765	0.77978	-1.0960	0.04611	T	0.110	0.39723	T	10	0.5927963	0.66475	D	0.013057	0.32163	T	0.230	0.53062	0.32	0.29902	0.352034026911	0.34807	0.522071608112274	0.52130	0.172189131585	0.19394	0.600900828838	0.53031	T	0.47234	0.80466	T	-0.0646455	0.42178	T	-0.0512002	0.66941	D	0.582858232865209	0.35728	D	0.986701	0.95453	D	0.3515112	0.57184	0.35656753	0.61165	0.3515112	0.57185	0.35656753	0.61165	-9.465	0.70641	D	0.3637020212946673	0.45990	0.115	0.36073	B	.;.;.	.;.;.	4.863822	0.79612	27.1	0.99926333190370964	0.99103	0.96951	0.71837	D	AEFGBI	0.800750	0.72664	D	0.685149816362162	0.78659	6.916367	0.726283776652791	0.84375	8.274233	0.999997367950035	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	6.431000	0.73320	11.754000	0.95474	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.279	0.98503	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	0.02381	1403.98	33	chr10	110130462	.	G	A	1403.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.201;DP=803;ExcessHet=0.0000;FS=3.321;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.80;ReadPosRankSum=-6.810e-01;SOR=0.951	GT:AD:DP:GQ:PL	0/1:57,62:119:99:1418,0,1244	20	0	1	0
chr10	114843033	114843033	G	A	exonic	FAM160B1	.	nonsynonymous SNV	FAM160B1:NM_001135051:exon6:c.G623A:p.R208H	.	.	436	1076	10	0	0	10	0.00462535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.001	B	0.345	N	1.000	N	0.205	N	2.52	T	-0.994	T	0.015	T	0.062	-0.111	3.457	-7.75	-1.679	-1.034	2.707	0.007	0.00272994570803	0.0002	0.000998403	0.0004	9.666e-05	0.0004	0	0	9.005e-05	0.0011	0.0023	0.0004463	69	154602	rs151031745	0.0003	0.0003	0.0003	0.0004	0.0059	0.0003	0.0003	0.0043	0.0038	2.987e-05	0.0004	0	0	0	0.0059	0.0002	0.0004	0.0022	0.0002	0.0002	0.0002	0.0002	0.0019	0.0001	0.0001	0.0010	0.0007	2.407e-05	0	0.0009	0	0	0	0.0034	8.82e-05	0.0005	0.0019	0.203	0.20154	T	0.151	0.32355	T	0.0	0.02946	B	0.0	0.04355	B	0.344917	0.04210	N	1.324280	1	0.08975	N	0	0.06538	N	2.52	0.14160	T	-0.3	0.11913	N	0.039	0.01274	-0.9941	0.31538	T	0.015	0.06186	T	10	0.005342692	0.00117	T	0.00273	0.05637	T	0.007	0.00512	.	.	0.082315109003	0.07666	0.18821935924863914	0.18739	0.314280072756	0.33708	0.168758511543	0.00027	T	0.015023	0.12680	T	-0.737782	0.00021	T	-0.839813	0.01101	T	0.0157142469501603	0.00363	T	0.0747925	0.00547	T	0.015205828	0.00127	0.021272546	0.00184	0.015205828	0.00127	0.021272546	0.00184	-3.416	0.15354	T	.	.	0.059	0.00949	B	.;.	.;.	-0.494320	0.01885	0.155	0.86896197040864231	0.16847	0.04044	0.09486	N	AEFBI	0.032865	0.03791	N	-1.90776820801714	0.00331	0.0142151	-1.96065958643693	0.00370	0.01633535	0.952250728751617	0.28005	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.54	-7.75	0.01099	-1.001000	0.03800	-0.652000	0.08023	-2.640000	0.00225	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2121:0.0709:0.4166:0.3003	2.707	0.04844	926	0.17793	.;.	.	.	.	.	.	Uncertain significance	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	1396.98	37	chr10	114843033	.	G	A	1396.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.330;DP=818;ExcessHet=0.0000;FS=0.707;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=1.63;SOR=0.578	GT:AD:DP:GQ:PL	0/1:56,59:115:99:1411,0,1280	20	0	1	0
chr10	117341050	117341050	C	T	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon2:c.G925A:p.E309K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.104	B	0.024	B	0.101	N	0.919	D	1.04	L	-1.98	D	-0.339	T	0.434	T	0.463	2.178	13.24	5.68	2.837	2.613	15.630	0.304	0.111422988151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.284	0.21411	T	0.104	0.25941	B	0.024	0.20255	B	0.100580	0.19880	N	0.530412	0.918501	0.36608	D	1.04	0.26193	L	-1.98	0.85247	D	-0.39	0.13611	N	0.56	0.58458	-0.3391	0.73870	T	0.434	0.77478	T	10	0.2526929	0.42627	T	0.111423	0.78920	D	0.304	0.62510	0.426	0.47185	0.406687239423	0.40287	0.3484412965450981	0.34758	0.878990842918	0.69697	0.551437139511	0.46060	T	0.004486	0.03887	T	0.0534098	0.58780	T	-0.161057	0.58257	T	0.401935211681401	0.29015	T	0.631737	0.24648	T	0.12929	0.30201	0.1091909	0.26311	0.12929	0.30201	0.1091909	0.26311	-4.196	0.26694	T	.	.	0.138	0.30103	B	.	.	2.876239	0.38048	20.6	0.99707916019332055	0.81143	0.81768	0.41106	D	AEFBI	0.402723	0.47670	N	-0.00176634886459942	0.41776	2.504867	0.196643706894966	0.49661	3.166775	0.999999995606444	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	2.759000	0.47253	7.612000	0.61951	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.630	0.76655	723	0.55174	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	3789.59	132	chr10	117341050	.	C	T	3789.59	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-3.850e+00;DP=2047;ExcessHet=6.1002;FS=296.226;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.464;MQ=60.00;MQRankSum=0.00;QD=2.96;ReadPosRankSum=1.38;SOR=10.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,39:129:99:0|1:117341048_C_T:391,0,2566:117341048	4	0	10	7
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	0/1:66,28:109:99:108,0,975	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	2|2:12,0,149,0:161:99:1|1:124021236_CG_C:5955,5990,6254,185,449,0,5990,6254,449,6254:124021236	0	0	1	0
chr10	124021238	124021238	-	GG	exonic	CHST15	.	frameshift insertion	CHST15:NM_001270765:exon6:c.1364_1365insCC:p.R456Pfs*29	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:12,0,149,0:161:99:1|1:124021236_CG_C:5955,5990,6254,185,449,0,5990,6254,449,6254:124021236	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|1:95,44:139:99:0|1:124989533_G_A:1533,0,3641:124989533	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	0/1:107,35:142:99:863,0,3540	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	0/1:119,32:151:99:511,0,3117	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|1:146,19:165:99:0|1:124989594_G_A:286,0,5968:124989594	12	0	7	2
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H	.	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.48	M	-1.64	D	0.598	D	0.722	D	0.666	4.396	23.3	5.36	2.030	7.698	15.357	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7883.4	152	chr10	124994489	.	T	G	7883.4	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.91;DP=3256;ExcessHet=54.0936;FS=22.490;InbreedingCoeff=-0.9843;MLEAC=21;MLEAF=0.500;MQ=58.49;MQRankSum=-7.468e+00;QD=2.53;ReadPosRankSum=-3.768e+00;SOR=2.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,19:174:99:0|1:124994489_T_G:331,0,6451:124994489	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|1:163,25:188:99:0|1:124994489_T_G:533,0,6680:124994489	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|1:159,26:185:99:0|1:124994489_T_G:568,0,6470:124994489	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|1:160,34:194:99:0|1:124994523_G_A:791,0,6411:124994523	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	0/1:156,31:187:99:407,0,4384	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	0/1:162,47:209:99:720,0,4588	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|1:165,48:213:99:0|1:124994577_C_A:1503,0,6675:124994577	0	0	21	0
chr10	125003357	125003357	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C398T:p.T133M	.	.	424	862	235	1	0	237	0.120857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.934	D	0.000	D	1.000	D	1.89	L	-1.93	D	0.559	D	0.703	D	0.822	3.902	19.84	4.4	2.174	9.858	17.367	0.785	0.338057885342	.	.	1.698e-05	0	0	0	0	3.122e-05	0	0	1.29e-05	2	154602	rs768573864	8.23e-06	8.209e-06	1.092e-05	5.513e-06	8.998e-06	4.39e-06	3.47e-06	4.55e-06	3.32e-06	0	0	0	0	1.905e-05	0	8.998e-06	1.662e-05	0	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.78490	D	0.041	0.58089	D	0.924	0.73220	P	0.646	0.66904	P	0.000000	0.84330	D	0.047645	1	0.81001	D	1.975	0.53506	M	-1.93	0.84842	D	-5.55	0.89152	D	0.825	0.82964	0.559	0.91361	D	0.703	0.89790	D	10	0.84322035	0.83481	D	0.338058	0.91938	D	0.785	0.92868	0.55	0.66576	0.871695389801	0.87044	0.8858696461970613	0.88555	2.04020034352	0.94242	0.847845315933	0.89288	D	0.769737	0.93827	D	0.312043	0.83899	D	0.210452	0.83688	D	0.965979218482971	0.67436	D	0.89801	0.64352	D	0.83755374	0.86434	0.83579093	0.90562	0.83755374	0.86436	0.83579093	0.90562	-13.803	0.92478	D	.	.	0.915	0.83817	P	.;.;.;.;.;.	.;.;.;.;.;.	5.948125	0.94152	33	0.9988098438978944	0.95733	0.97166	0.73078	D	AEFDGBHCI	0.946022	0.95501	D	0.641428984643706	0.75816	6.373162	0.605033197001249	0.75304	6.287037	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.4	4.4	0.52402	9.992000	0.99232	11.673000	0.94126	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	17.367	0.87255	923	0.18507	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	50.02	71	chr10	125003357	.	G	A	50.02	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-7.070e-01;DP=1673;ExcessHet=0.0000;FS=24.945;InbreedingCoeff=-0.0909;MLEAC=1;MLEAF=0.031;MQ=59.30;MQRankSum=-8.968e+00;QD=0.51;ReadPosRankSum=-2.365e+00;SOR=3.253	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,8:99:62:0|1:125003350_T_C:62,0,3797:125003350	15	0	1	5
chr10	125003368	125003368	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C387G:p.D129E	.	.	430	852	239	1	0	241	0.123907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.34	B	0.426	B	0.000	D	1.000	D	2.07	M	0.84	T	-0.808	T	0.168	T	0.718	2.749	15.15	-4.33	-0.867	-0.788	14.997	0.229	0.0278736828157	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.52492	D	0.035	0.76473	D	0.057	0.33445	B	0.084	0.45295	B	0.000001	0.84330	D	0.093937	0.998215	0.47795	D	1.255	0.31814	L	0.84	0.47477	T	-3.72	0.73151	D	0.731	0.74280	-0.8081	0.54665	T	0.168	0.50745	T	10	0.57244885	0.65394	D	0.027874	0.50634	D	0.229	0.52916	0.567	0.68901	0.742667268481	0.74035	0.9372575970872389	0.93705	0.839287628383	0.67962	0.822298943996	0.85381	D	0.532581	0.83851	D	-0.00859042	0.50463	T	-0.250116	0.49806	T	0.95814836025238	0.65193	D	0.816918	0.54045	T	0.61954224	0.73738	0.49464875	0.70773	0.61954224	0.73740	0.49464875	0.70773	-13.991	0.95421	D	.	.	0.998	0.97084	P	.;.;.;.;.;.	.;.;.;.;.;.	1.288935	0.16893	12.83	0.98899659867088185	0.48163	0.32479	0.24596	N	AEFDGBHCI	0.425946	0.49050	N	-0.575959099119209	0.19677	1.031687	-0.660887068078052	0.17942	0.9563054	0.999999886987385	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	-4.33	0.03423	-0.760000	0.04861	-7.833000	0.01078	0.662000	0.56354	0.017000	0.19353	0.000000	0.08366	0.996000	0.76049	0.7124:0.0:0.2876:0.0	14.997	0.71096	923	0.18507	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.125	355.62	71	chr10	125003368	.	G	C	355.62	.	AC=4;AF=0.125;AN=32;BaseQRankSum=0.397;DP=1891;ExcessHet=0.6776;FS=7.526;InbreedingCoeff=-0.1824;MLEAC=5;MLEAF=0.156;MQ=59.18;MQRankSum=-9.875e+00;QD=0.84;ReadPosRankSum=-2.533e+00;SOR=2.009	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,8:99:62:0|1:125003350_T_C:62,0,3797:125003350	12	0	4	5
chr10	125003382	125003382	C	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.373delG:p.V125Wfs*17	.	.	420	832	265	5	0	275	0.141826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1000.95	71	chr10	125003381	.	AC	A	1000.95	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-1.186e+00;DP=1911;ExcessHet=2.5830;FS=6.426;InbreedingCoeff=-0.2047;MLEAC=7;MLEAF=0.167;MQ=59.12;MQRankSum=-9.613e+00;QD=1.33;ReadPosRankSum=-1.280e+00;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,10:95:99:0|1:125003381_AC_A:164,0,3495:125003381	14	0	7	0
chr10	125003410	125003410	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G345C:p.E115D	.	.	421	824	273	4	0	281	0.145671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.421	B	0.528	P	0.000	D	1.000	D	2.77	M	0.68	T	-0.558	T	0.255	T	0.827	4.931	28.6	3.8	1.098	3.317	13.510	0.261	0.0418347474684	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs74705267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.088	0.62352	T	0.043	0.35387	B	0.17	0.48482	B	0.000054	0.53742	D	0.195283	0.999999	0.58761	D	0.98	0.24916	L	0.68	0.51952	T	-2.71	0.59710	D	0.686	0.73555	-0.5581	0.66476	T	0.255	0.62530	T	10	0.56158	0.64817	D	0.041835	0.60142	D	0.261	0.57352	0.434	0.48500	0.881554203603	0.88039	0.972171025341375	0.97206	1.7143308071	0.90477	0.748663306236	0.74250	T	0.62925	0.88488	D	0.139244	0.68253	D	-0.0377626	0.67852	D	0.957904279232025	0.65131	D	0.844016	0.52137	T	0.77675706	0.82455	0.4746194	0.69552	0.77675706	0.82456	0.4746194	0.69552	-14.274	0.93913	D	.	.	0.998	0.98268	P	.;.;.;.;.;.	.;.;.;.;.;.	4.166684	0.62622	24.5	0.99797317996392532	0.88283	0.94867	0.62605	D	AEFDGBHCI	0.781566	0.71311	D	0.172151716873866	0.49864	3.182254	0.205790313476848	0.50167	3.211761	0.999999999997825	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.8	0.42887	5.029000	0.63903	1.014000	0.23354	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9225:0.0:0.0775	13.510	0.60961	923	0.18507	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	64.02	71	chr10	125003410	.	C	G	64.02	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-1.960e+00;DP=1870;ExcessHet=0.1072;FS=11.938;InbreedingCoeff=-0.1198;MLEAC=2;MLEAF=0.063;MQ=59.00;MQRankSum=-9.078e+00;QD=0.25;ReadPosRankSum=1.71;SOR=1.794	GT:AD:DP:GQ:PL	0/1:73,11:84:20:20,0,1994	14	0	2	5
chr10	125003448	125003448	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C307G:p.L103V	.	.	415	822	281	4	0	289	0.149509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.997	D	0.971	D	0.000	D	1.000	D	1.955	M	0.56	T	-0.711	T	0.257	T	0.772	1.617	11.36	1.83	0.176	2.720	9.074	0.276	0.0482046556134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3198920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.46129	T	0.06	0.70582	T	0.977	0.70673	D	0.695	0.72444	P	0.000204	0.47681	D	0.143597	0.999973	0.53665	D	1.24	0.30952	L	0.56	0.54540	T	-2.77	0.59545	D	0.749	0.74918	-0.7112	0.59893	T	0.257	0.62699	T	10	0.56829476	0.65175	D	0.048205	0.63269	D	0.276	0.59253	0.336	0.32491	0.772200913293	0.77011	0.9284518054969177	0.92823	1.54105169968	0.87712	0.653429269791	0.60473	T	0.450833	0.79179	T	0.0930372	0.63530	D	-0.104135	0.63075	T	0.921929836273193	0.58181	D	0.835916	0.50694	T	0.38344187	0.59564	0.2654763	0.52381	0.38344187	0.59565	0.2654763	0.52380	-11.24	0.86033	D	.	.	0.857	0.85926	P	.;.;.;.;.;.	.;.;.;.;.;.	4.413740	0.68303	25.2	0.95986553857963608	0.28374	0.93332	0.57934	D	AEFDBHCI	0.721280	0.67158	D	0.197166407657861	0.51063	3.290622	0.0912559216929815	0.44107	2.69894	0.999999466762818	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	1.83	0.24279	4.055000	0.57153	3.753000	0.39691	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.3038:0.0:0.6962:0.0	9.074	0.35672	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	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	0.25	1450.32	72	chr10	125003448	.	G	C	1450.32	.	AC=8;AF=0.250;AN=32;BaseQRankSum=-9.980e-01;DP=1678;ExcessHet=3.5521;FS=10.491;InbreedingCoeff=-0.3485;MLEAC=10;MLEAF=0.313;MQ=59.04;MQRankSum=-7.966e+00;QD=2.01;ReadPosRankSum=1.23;SOR=1.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,10:73:99:0|1:125003425_G_C:230,0,2615:125003425	8	0	8	5
chr10	125003450	125003450	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C305T:p.P102L	.	.	415	825	279	3	0	285	0.147287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	N	1.000	D	1.955	M	0.4	T	-0.394	T	0.310	T	0.845	3.342	17.25	3.81	1.107	9.869	15.129	0.538	0.184870613505	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796256730	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.68238	D	0.003	0.83351	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	N	0.048585	1	0.81001	D	2.215	0.62545	M	0.4	0.57261	T	-9.29	0.98415	D	0.771	0.82559	-0.3944	0.72203	T	0.310	0.68003	T	10	0.77988756	0.77765	D	0.184871	0.85777	D	0.538	0.80664	0.515	0.61459	0.793810481979	0.79189	0.9928132138473921	0.99277	2.02998117833	0.94073	0.801052808762	0.82123	T	0.591617	0.86780	D	0.254993	0.79067	D	0.128504	0.78794	D	0.999326944351196	0.96966	D	0.948805	0.80311	D	0.80739933	0.84383	0.63186806	0.78521	0.80739933	0.84384	0.63186806	0.78522	-10.77	0.87601	D	.	.	0.981	0.91262	P	.;.;.;.;.;.	.;.;.;.;.;.	5.876492	0.93912	33	0.99537415390314665	0.70274	0.97949	0.78358	D	AEFDBHCI	0.949159	0.96151	D	0.396560092074224	0.61236	4.321908	0.310569273267847	0.56158	3.779008	0.999999999991253	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.81	0.43020	10.003000	0.99689	11.566000	0.93257	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1423:0.8577:0.0	15.129	0.72177	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2188	661.1	67	chr10	125003450	.	G	A	661.1	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-1.342e+00;DP=1603;ExcessHet=2.5830;FS=2.196;InbreedingCoeff=-0.2922;MLEAC=8;MLEAF=0.250;MQ=59.24;MQRankSum=-8.454e+00;QD=1.06;ReadPosRankSum=0.993;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,8:70:99:0|1:125003425_G_C:149,0,2579:125003425	9	0	7	5
chr10	125003454	125003454	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.301delC:p.R101Afs*19	.	.	418	851	251	2	0	255	0.130301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.007e-07	3.42e-06	0	1.411e-06	.	0	0	.	.	0	0	0	0	1.924e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	626.51	67	chr10	125003453	.	CG	C	626.51	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-1.108e+00;DP=1598;ExcessHet=2.5830;FS=2.198;InbreedingCoeff=-0.1999;MLEAC=7;MLEAF=0.167;MQ=59.25;MQRankSum=-8.630e+00;QD=0.99;ReadPosRankSum=0.814;SOR=0.914	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,8:72:99:0|1:125003425_G_C:143,0,2663:125003425	14	0	7	0
chr10	125003460	125003460	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C295A:p.H99N	.	.	415	860	246	1	0	248	0.126016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.926	P	0.711	P	0.000	D	1.000	D	1.24	L	-1.65	D	0.171	D	0.548	D	0.535	3.112	16.40	4.72	2.350	9.476	18.050	0.554	0.0669258259103	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796388243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.56456	D	0.108	0.50514	T	0.168	0.51467	B	0.138	0.54536	B	0.000186	0.48115	D	0.218873	0.999987	0.54805	D	2.135	0.59519	M	-1.65	0.83737	D	-4.47	0.78388	D	0.766	0.79214	0.171	0.85422	D	0.548	0.83407	D	10	0.6328803	0.68617	D	0.066926	0.70016	D	0.554	0.81601	0.416	0.45544	0.767328355039	0.76520	0.9728822579583015	0.97277	2.0305426451	0.94091	0.756400108337	0.75394	T	0.434559	0.78160	T	0.131495	0.67506	D	-0.0488934	0.67098	D	0.986545503139496	0.77236	D	0.927207	0.73169	D	0.4496781	0.64020	0.3526759	0.60841	0.4496781	0.64021	0.3526759	0.60840	-9.806	0.74846	D	.	.	0.451	0.62246	A	.;.;.;.;.;.	.;.;.;.;.;.	5.089181	0.84970	28.5	0.977327532623396	0.35628	0.98388	0.82268	D	AEFDBHCI	0.954424	0.97151	D	0.316318154352101	0.56987	3.864403	0.376191892726831	0.60101	4.194	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	7.744000	0.83944	8.399000	0.77102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2188	661.11	63	chr10	125003460	.	G	T	661.11	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-1.362e+00;DP=1555;ExcessHet=2.5830;FS=3.478;InbreedingCoeff=-0.2923;MLEAC=8;MLEAF=0.250;MQ=59.26;MQRankSum=-8.513e+00;QD=1.08;ReadPosRankSum=0.369;SOR=0.956	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,7:74:92:0|1:125003425_G_C:92,0,2792:125003425	9	0	7	5
chr10	125003466	125003466	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C289A:p.P97T	.	.	410	877	234	1	0	236	0.118593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.987	D	0.766	P	0.000	D	1.000	D	1.67	L	-2.02	D	0.518	D	0.688	D	0.829	3.996	20.5	4.72	2.350	9.750	18.050	0.847	0.176108028638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.025	0.64786	D	0.948	0.61912	P	0.514	0.56676	P	0.000117	0.50451	D	0.214717	1	0.81001	D	2.215	0.62545	M	-2.13	0.86349	D	-6.05	0.89796	D	0.689	0.82559	0.518	0.90792	D	0.688	0.89243	D	10	0.8365156	0.82808	D	0.176108	0.85198	D	0.847	0.95249	0.689	0.82653	0.928801495259	0.92807	0.9831479306831125	0.98306	2.09264733632	0.94735	0.676425933838	0.63756	T	0.542494	0.84360	D	0.336779	0.85619	D	0.245983	0.85429	D	0.99172455072403	0.82061	D	0.955104	0.83186	D	0.7142099	0.78840	0.5802387	0.75671	0.7142099	0.78841	0.5802387	0.75672	-5.592	0.70616	T	.	.	0.756	0.75321	P	.;.;.;.;.;.	.;.;.;.;.;.	5.016100	0.83334	28.0	0.99771334295315606	0.85918	0.97924	0.78163	D	AEFDBHCI	0.917308	0.88472	D	0.627757786435649	0.74937	6.218313	0.643900769394684	0.78156	6.820169	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	9.883000	0.98528	11.568000	0.93268	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1944	704.07	63	chr10	125003466	.	G	T	704.07	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-1.194e+00;DP=1529;ExcessHet=2.5830;FS=5.480;InbreedingCoeff=-0.2613;MLEAC=8;MLEAF=0.222;MQ=59.27;MQRankSum=-8.513e+00;QD=1.19;ReadPosRankSum=0.161;SOR=1.028	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,7:76:86:0|1:125003425_G_C:86,0,2876:125003425	11	0	7	3
chr10	125003468	125003468	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G287T:p.G96V	.	.	413	879	229	1	0	231	0.116139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.986	D	0.674	P	0.000	D	1.000	D	1.795	L	-2.03	D	0.404	D	0.665	D	0.926	3.651	18.56	4.72	2.350	5.914	18.050	0.808	0.205810925829	7.9e-05	.	9.126e-06	0	0	0	0	1.654e-05	0	0	6.5e-06	1	154602	rs368195398	7.039e-07	2.052e-06	0	1.418e-06	1.229e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.229e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	4.831e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.831e-05	0	0	0	0	0	0	0	0	0	0.002	0.91255	D	0.003	0.83351	D	0.758	0.56768	P	0.345	0.52270	B	0.000015	0.62929	D	0.153474	1	0.81001	D	2.215	0.62545	M	-2.07	0.87116	D	-6.7	0.93786	D	0.885	0.91162	0.404	0.89161	D	0.665	0.88381	D	10	0.9020648	0.89569	D	0.205811	0.87005	D	0.808	0.93777	.	.	0.940972417782	0.94036	0.9830957384624965	0.98301	0.580823813372	0.53909	0.771838724613	0.77700	T	0.670241	0.90204	D	0.414705	0.90739	D	0.357919	0.90623	D	0.97039270401001	0.68933	D	0.830817	0.50504	T	0.82183003	0.85343	0.73988026	0.84624	0.82183003	0.85344	0.73988026	0.84625	-14.257	0.93861	D	.	.	0.903	0.82932	P	.;.;.;.;.;.	.;.;.;.;.;.	5.052849	0.84171	28.2	0.99572167466560413	0.72440	0.94853	0.62557	D	AEFDBHCI	0.865967	0.78524	D	0.502445831928042	0.67234	5.054572	0.519224250986091	0.69285	5.338541	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	4.865000	0.62695	5.821000	0.50083	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2059	682.08	63	chr10	125003468	.	C	A	682.08	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-9.480e-01;DP=1516;ExcessHet=2.5830;FS=5.480;InbreedingCoeff=-0.2727;MLEAC=8;MLEAF=0.235;MQ=59.27;MQRankSum=-8.454e+00;QD=1.16;ReadPosRankSum=-3.400e-02;SOR=0.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,6:75:44:0|1:125003425_G_C:44,0,2871:125003425	10	0	7	4
chr10	125003470	125003470	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C285A:p.N95K	.	.	414	877	230	1	0	232	0.116818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.936	P	0.548	P	0.000	N	1.000	D	1.795	L	-1.74	D	-0.145	T	0.509	D	0.535	2.434	14.10	2.83	0.513	1.589	5.756	0.443	0.196846434944	.	.	.	.	.	.	.	.	.	.	.	.	.	rs797010536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.53172	T	0.133	0.38160	T	0.024	0.52359	B	0.023	0.49136	B	0.000107	0.50451	N	0.228572	0.999907	0.50806	D	0.84	0.21119	L	-1.74	0.85173	D	-4.45	0.77717	D	0.707	0.80572	-0.1451	0.79039	T	0.509	0.81527	D	10	0.6498769	0.69541	D	0.196846	0.86503	D	0.443	0.74588	0.388	0.40951	0.817883718107	0.81616	0.9725668737270228	0.97245	0.555298206099	0.52229	0.665825009346	0.62241	T	0.506962	0.82492	D	0.0861848	0.62758	D	-0.113978	0.62294	T	0.98187917470932	0.74162	D	0.883312	0.60567	D	0.2881824	0.51823	0.250968	0.50698	0.2881824	0.51823	0.250968	0.50697	-15.247	0.96521	D	.	.	0.973	0.89808	P	.;.;.;.;.;.	.;.;.;.;.;.	4.647796	0.74053	26.1	0.9874692024541335	0.45587	0.88075	0.47847	D	AEFDBHCI	0.574998	0.57756	D	-0.046368544377228	0.39764	2.350313	0.00799731341758868	0.40086	2.38672	0.999998763134182	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	2.83	0.32150	1.613000	0.36512	7.263000	0.57966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1598:0.0:0.6829:0.1573	5.756	0.17440	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2188	672.89	63	chr10	125003470	.	G	T	672.89	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-3.170e-01;DP=1506;ExcessHet=2.5830;FS=6.678;InbreedingCoeff=-0.2894;MLEAC=8;MLEAF=0.250;MQ=59.26;MQRankSum=-8.448e+00;QD=1.17;ReadPosRankSum=-2.280e-01;SOR=0.905	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,5:71:11:0|1:125003425_G_C:11,0,2748:125003425	9	0	7	5
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|1:140,12:152:82:0|1:125039033_T_A:82,0,5774:125039033	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|1:140,12:152:82:0|1:125039033_T_A:82,0,5774:125039033	9	0	12	0
chr10	131970666	131970666	G	A	exonic	BNIP3	.	nonsynonymous SNV	BNIP3:NM_004052:exon5:c.C706T:p.L236F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.982	D	0.906	P	0.000	D	1.000	D	2.14	M	.	.	-0.212	T	0.400	T	0.537	2.704	15.00	4.3	2.342	1.601	17.659	0.238	0.00838545504326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.191	0.43721	T	.	.	.	.	.	.	0.000120	0.50451	D	0.147023	0.999994	0.58761	D	.	.	.	.	.	.	.	.	.	0.602	0.62018	-0.2121	0.77359	T	0.400	0.75130	T	9	0.41379318	0.56404	T	0.008385	0.22181	T	0.238	0.54217	.	.	0.500994481783	0.49735	0.7413383291708545	0.74079	1.09635788658	0.77590	0.638146281242	0.58300	T	.	.	.	0.0403246	0.57090	T	-0.179853	0.56537	T	0.949204385280609	0.63062	D	0.939006	0.77019	D	0.1524084	0.34598	0.15168965	0.35721	0.1524084	0.34597	0.15168965	0.35720	-9.261	0.69362	D	.	.	0.42	0.60667	A	.;.	.;.	4.232503	0.64109	24.7	0.99833933437728273	0.91542	0.86824	0.46190	D	AEFDBCI	0.298286	0.40764	N	0.509261380632509	0.67634	5.108092	0.447473131187209	0.64554	4.713309	0.999388797983373	0.39415	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.3	4.3	0.50540	1.356000	0.33683	9.651000	0.81171	0.672000	0.70159	0.999000	0.42656	1.000000	0.68203	0.904000	0.43992	0.0:0.0:1.0:0.0	17.659	0.88088	955	0.09969	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	231.1	34	chr10	131970666	.	G	A	231.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.343e+00;DP=1361;ExcessHet=0.1072;FS=143.037;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.67;MQRankSum=0.056;QD=0.45;ReadPosRankSum=2.07;SOR=8.349	GT:AD:DP:GQ:PL	0/1:183,55:238:40:40,0,3575	19	0	2	0
chr10	132909237	132909237	T	C	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon21:c.A2657G:p.N886S,	.	.	398	1122	2	0	0	2	0.000890472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.244	B	0.077	B	.	.	1.000	N	.	.	2.86	T	-1.046	T	0.047	T	0.009	1.473	10.87	0.968	-0.081	-0.057	5.545	0.026	0.0174934866894	.	0.00119808	0.0006	0	0	0	0	0.0015	0	0.0001	0.0001358	21	154602	rs144559760	0.0007	0.0007	0.0007	0.0008	0.0008	0.0007	0.0007	0.0008	0.0008	6.331e-05	0.0006	3.971e-05	0.0001	0.0009	0.0004	0.0008	0.0008	0.0002	0.0008	0.0008	0.0008	0.0008	0.0026	0.0007	0.0007	0.0020	0.0017	7.218e-05	0	0.0026	0	0	0.0014	0	0.0009	0.0033	0	0.514	0.07401	T	0.064	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.86	0.10482	T	-1.52	0.36980	N	0.048	0.01999	-1.0465	0.15389	T	0.047	0.20156	T	8	0.0077299476	0.00175	T	0.017493	0.39209	T	0.026	0.05648	.	.	0.0138822411134	0.00435	0.03860372121444109	0.03806	0.0883773081995	0.09985	0.414081811905	0.27021	T	0.026803	0.19761	T	-0.7169	0.00029	T	-0.858901	0.00855	T	0.00493071135133505	0.00053	T	0.39716	0.10029	T	0.028576795	0.02217	0.03600422	0.02962	0.028576795	0.02216	0.03600422	0.02962	-2.957	0.09726	T	.	.	0.057	0.00563	B	.	.	-0.172171	0.03235	0.544	0.69978438948517518	0.09146	0.03826	0.09169	N	AEFDBI	0.072236	0.14410	N	-0.79873463242146	0.13343	0.656642	-0.868723344526694	0.12839	0.6627215	0.0597327303987961	0.15172	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.85	0.968	0.18799	-0.430000	0.07043	-2.362000	0.03850	-2.896000	0.00163	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1627:0.1451:0.6922	5.545	0.16346	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1202.98	33	chr10	132909237	.	T	C	1202.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.240e-01;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-2.830e-01;SOR=0.688	GT:AD:DP:GQ:PL	0/1:41,51:92:99:1217,0,955	20	0	1	0
chr10	132922700	132922700	G	A	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon12:c.C1265T:p.T422M,	.	.	422	1090	10	0	0	10	0.00456621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	0.998	N	.	.	2.82	T	-0.908	T	0.117	T	0.179	0.253	5.367	-3.1	-0.563	0.205	6.306	0.048	0.0396085375064	.	0.00219649	0.0019	0.0007	0.0031	0	0	0.0014	0.0063	0.0026	0.0005498	85	154602	rs140185143	0.0012	0.0012	0.0012	0.0013	0.0078	0.0012	0.0012	0.0059	0.0053	0.0006	0.0029	0.0030	0	0.0001	0.0078	0.0010	0.0020	0.0029	0.0011	0.0011	0.0011	0.0011	0.0033	0.0010	0.0009	0.0024	0.0021	0.0003	0	0.0031	0.0026	0.0002	0	0.0068	0.0011	0.0009	0.0033	0.077	0.34095	T	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.82	0.10871	T	-1.1	0.28497	N	0.127	0.12055	-0.9085	0.47037	T	0.117	0.41142	T	6	0.008535087	0.00193	T	0.039609	0.58906	D	0.048	0.13305	.	.	0.0297737177859	0.01360	0.07209480817403437	0.07146	0.441977436044	0.44176	0.400841325521	0.25186	T	0.027875	0.20317	T	-0.610348	0.00126	T	-0.647164	0.09154	T	0.00700018913881569	0.00080	T	0.792521	0.43410	T	0.021688124	0.00785	0.0491156	0.07439	0.021688124	0.00784	0.0491156	0.07439	-5.299	0.39933	T	.	.	0.096	0.15520	B	.	.	2.345217	0.30063	18.32	0.99152462879613545	0.53848	0.00391	0.01965	N	AEFDBI	0.031433	0.03361	N	-0.912366698047863	0.10552	0.5047728	-1.13015712784796	0.07129	0.3456308	0.30643274557909	0.19242	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.28	-3.1	0.04991	-0.010000	0.12681	0.354000	0.17507	-0.148000	0.12190	0.000000	0.06391	0.002000	0.18203	0.005000	0.06747	0.3834:0.1371:0.4795:0.0	6.306	0.20344	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	907.11	37	chr10	132922700	.	G	A	907.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.572;DP=790;ExcessHet=0.1072;FS=0.915;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=0.673;SOR=0.535	GT:AD:DP:GQ:PL	0/1:28,21:49:99:539,0,685	19	0	2	0
chr10	133271532	133271532	G	C	exonic	ADAM8	.	nonsynonymous SNV	ADAM8:NM_001164490:exon11:c.C1163G:p.P388R	.	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0247010166624	.	0.000199681	0.0002	0	0	0	0	0.0002	0.0072	0.0002	3.23e-05	5	154602	rs548692443	4.065e-05	3.967e-05	3.378e-05	4.771e-05	0.0008	3.177e-05	2.901e-05	0.0003	0.0002	0	0	0.0008	0	0	0.0008	7.4e-06	0.0002	0.0002	3.282e-05	3.281e-05	3.853e-05	2.685e-05	0.0004	1.26e-05	7.97e-06	7.285e-05	3.027e-05	0	0	0	0.0003	0	0	0	2.941e-05	0	0.0004	0.017	0.68238	D	0.042	0.51112	D	0.998	0.73220	D	0.98	0.74843	D	.	.	.	.	1	0.08975	N	2.395	0.69210	M	2.79	0.11189	T	-7.27	0.94404	D	0.228	0.31590	.	.	.	.	.	.	.	0.10274848	0.18850	T	0.024701	0.47687	T	.	.	.	.	0.388174495139	0.38433	0.7766237681499825	0.77612	0.579290574343	0.53809	0.457365810871	0.32950	T	0.239979	0.60821	T	-0.381666	0.03041	T	-0.521585	0.20134	T	.	.	.	0.90111	0.65732	D	0.30416456	0.53276	0.2516911	0.50784	0.30416456	0.53276	0.2516911	0.50783	-6.336	0.52141	T	.	.	0.098	0.16231	B	.;.;.	.;.;.	2.925900	0.38855	20.8	0.99808344305116981	0.89264	0.28112	0.23464	N	AEFBI	0.225972	0.34998	N	.	.	.	.	.	.	0.135437219907092	0.17172	0.631515	0.41029	0	0.697927	0.68747	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.43	4.43	0.52967	1.635000	0.36747	5.135000	0.47677	0.658000	0.54486	0.003000	0.16062	1.000000	0.68203	0.410000	0.27006	0.1062:0.0:0.8938:0.0	8.790	0.34003	994	0.00715	Disintegrin domain|Disintegrin domain|Disintegrin domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	732.98	30	chr10	133271532	.	G	C	732.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.00;DP=709;ExcessHet=0.0000;FS=4.029;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=0.303;SOR=1.329	GT:AD:DP:GQ:PL	0/1:28,26:54:99:747,0,736	20	0	1	0
chr10	133289956	133289956	C	T	exonic	TUBGCP2	.	nonsynonymous SNV	TUBGCP2:NM_001256618:exon8:c.G838A:p.E280K	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.98	D	0.786	P	0.000	D	1.000	D	0.6	N	3.23	T	-0.995	T	0.162	T	0.938	4.348	22.9	5.64	2.832	7.503	18.667	0.334	0.0100688897832	0.0002	0.000599042	0.0001	9.621e-05	0	0	0	0.0002	0.0011	0.0003	0.0001358	21	154602	rs200445961	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0005	0.0004	5.975e-05	0.0001	0.0007	0	0	0.0010	0.0001	0.0002	0.0006	0.0001	0.0001	0.0001	0.0001	0.0012	9.141e-05	7.697e-05	0.0005	0.0004	0	0	6.533e-05	0.0006	0	0	0	0.0002	0.0005	0.0012	0.08	0.36912	T	0.053	0.59159	T	0.98	0.59353	D	0.786	0.57542	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.38	0.34346	L	3.23	0.57100	T	-2.55	0.55181	D	0.906	0.90704	-0.9947	0.31379	T	0.162	0.49748	T	10	0.38616654	0.54556	T	0.010069	0.26169	T	0.334	0.65620	.	.	0.643721901085	0.64077	0.7027686224115378	0.70217	0.995167280949	0.74201	0.789097189903	0.80306	T	0.18575	0.53882	T	0.0454057	0.57750	T	0.163705	0.81031	D	0.203218772901191	0.20592	T	0.966503	0.87759	D	0.41093892	0.61482	0.30232495	0.56265	0.41093892	0.61483	0.30232495	0.56264	-8.937	0.69178	D	.	.	0.188	0.71269	B	.;.;.;.;.	.;.;.;.;.	4.826054	0.78650	26.9	0.99897863570283596	0.97048	0.98121	0.79777	D	AEFBI	0.881140	0.80829	D	0.285595759795689	0.55418	3.705861	0.349027342104143	0.58447	4.015427	0.999999999589929	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	7.676000	0.83341	7.456000	0.59008	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.157000	0.20547	0.0:1.0:0.0:0.0	18.667	0.91452	989	0.01410	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1826.98	35	chr10	133289956	.	C	T	1826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.524;DP=926;ExcessHet=0.0000;FS=0.651;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.16;ReadPosRankSum=-3.370e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/1:56,73:129:99:1841,0,1256	20	0	1	0
chr11	380881	380881	C	G	exonic	B4GALNT4	.	nonsynonymous SNV	B4GALNT4:NM_178537:exon19:c.C2926G:p.R976G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.657	P	0.54	P	0.000	D	0.713	N	2.47	M	1.26	T	-0.781	T	0.150	T	0.403	2.817	15.38	2.83	0.895	1.953	11.146	0.172	0.0905708000471	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1163396980	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.577e-06	6.567e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.003	0.68238	D	0.003	0.76473	D	0.657	0.40850	P	0.54	0.48825	P	0.000009	0.62929	D	0.060791	0.713344	0.29992	N	2.765	0.80766	M	1.26	0.36330	T	-5.28	0.84246	D	0.623	0.63798	-0.7813	0.56229	T	0.150	0.47663	T	10	0.6654271	0.70398	D	0.090571	0.75543	D	0.172	0.43662	0.542	0.65446	0.123314135267	0.11883	0.8783128598904932	0.87798	1.24029481658	0.81551	0.439969658852	0.30573	T	0.026077	0.19371	T	-0.0666621	0.41858	T	-0.333532	0.41074	T	0.992069244384766	0.82458	D	0.955704	0.83186	D	0.7481455	0.80760	0.5833941	0.75845	0.7481455	0.80762	0.5833941	0.75846	-11.288	0.81214	D	.	.	0.245	0.47965	B	.	.	4.239484	0.64268	24.7	0.99484432361464403	0.67069	0.82494	0.41713	D	AEFDI	0.423080	0.48881	N	0.0566555947260758	0.44448	2.718773	-0.0340567135951091	0.38188	2.246314	0.53137549368043	0.21178	0.718356	0.82227	0	0.626922	0.53725	0	0.570548	0.19454	0	0.699875	0.68795	0	.	.	3.76	2.83	0.32150	2.031000	0.40737	1.662000	0.27905	0.524000	0.24156	0.998000	0.41325	1.000000	0.68203	0.972000	0.54974	0.332:0.668:0.0:0.0	11.146	0.47652	889	0.27310	.	.	.	.	.	.	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	2074.98	46	chr11	380881	.	C	G	2074.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.690e-01;DP=938;ExcessHet=0.0000;FS=0.579;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=-4.690e-01;SOR=0.641	GT:AD:DP:GQ:PL	0/1:73,88:161:99:2089,0,1715	20	0	1	0
chr11	1016614	1016614	G	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C6187A:p.P2063T,	.	.	387	1134	1	0	0	1	0.000440723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.006	B	0.006	B	.	.	1.000	N	1.845	L	1.91	T	-0.990	T	0.047	T	0.089	0.739	7.922	-2.22	-0.967	-0.706	1.669	0.009	0.00175165915732	.	.	0.0004	0	9.029e-05	0.0006	0.0002	0.0004	0.0013	0.0007	0.0004269	66	154602	rs148793744	0.0001	0.0013	0.0001	0.0002	0.0007	0.0001	0.0001	0.0005	0.0004	9.571e-05	0.0002	0.0001	0.0007	0.0002	0	0.0001	0.0002	0.0003	0.0040	0.0045	0.0042	0.0038	0.0227	0.0029	0.0025	0.0062	0.0033	0.0048	0	0.0033	0	0.0227	0.0035	0	0.0029	0.0079	0.0147	0.047	0.40319	D	0.282	0.21545	T	0.006	0.13644	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	2.085	0.57729	M	1.91	0.23283	T	-1.45	0.35597	N	0.048	0.01999	-0.9902	0.32551	T	0.047	0.20275	T	9	0.0031918883	0.00054	T	0.001752	0.02960	T	0.009	0.00846	.	.	0.117506650769	0.11410	0.19015794908314243	0.18933	0.342876420663	0.36218	0.1855314821	0.00156	T	0.047332	0.27691	T	-0.217386	0.18352	T	-0.550037	0.17323	T	0.0452130291724069	0.04641	T	.	.	.	0.050521784	0.09141	0.0766043	0.16982	0.050521784	0.09141	0.0766043	0.16982	-4.787	0.34440	T	.	.	0.071	0.03964	B	.	.	0.735216	0.11045	7.699	0.85479584403720932	0.15919	0.04555	0.10195	N	AEFDGBCI	0.033397	0.03951	N	-1.52482507739275	0.01687	0.07384677	-1.6531557408996	0.01360	0.06139855	0.999996812163428	0.74766	0.004792	0.00041	3	0.008208	0.00037	3	0.019298	0.00145	3	0.683672	0.66515	0	.	.	2.46	-2.22	0.06560	-1.300000	0.02859	-6.638000	0.01345	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.3172:0.1383:0.4048:0.1396	1.669	0.02638	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	0.04762	6439.11	248	chr11	1016614	.	G	T	6439.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.38;DP=4614;ExcessHet=0.1072;FS=6.487;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.51;MQRankSum=0.775;QD=11.34;ReadPosRankSum=-8.400e+00;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,128:296:99:0|1:1016576_G_C:4787,0,6608:1016576	19	0	2	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	0/2:476,75,226:777:99:7589,5945,26026,0,16464,18859	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	0/1:546,127,127,0:800:99:.:.:3697,0,23263,101,16653,21303,5360,22835,21921,27942	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	0/1:595,164,56,0:815:99:.:.:5114,0,24486,4552,22652,29366,6896,24983,29536,31876	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|1:595,223,0:818:99:0|1:1017440_C_T:7573,0,24313,9364,24984,34348:1017440	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	0/1:746,72,0:818:99:.:.:762,0,31010,3007,31226,34234	3	0	10	4
chr11	1017474	1017474	G	0	exonic	MUC6	.	.	.	.	.	342	447	564	2	167	735	0.388509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	11964.24	565	chr11	1017474	.	G	A,*	11964.24	.	AC=13,5;AF=0.342,0.132;AN=38;BaseQRankSum=-3.530e-01;DP=13558;ExcessHet=30.0624;FS=0.861;InbreedingCoeff=-0.8261;MLEAC=14,5;MLEAF=0.368,0.132;MQ=56.37;MQRankSum=-7.879e+00;QD=1.05;ReadPosRankSum=1.66;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:769,62,0:831:99:0|1:1017458_A_G:289,0,32104,2603,32290,34894:1017458	1	0	13	2
chr11	1017483	1017483	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	81106.23	565	chr11	1017483	.	T	G,*	81106.23	.	AC=15,5;AF=0.375,0.125;AN=40;BaseQRankSum=6.32;DP=13450;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9535;MLEAC=15,5;MLEAF=0.375,0.125;MQ=56.60;MQRankSum=-1.502e+01;QD=6.50;ReadPosRankSum=3.20;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:635,207,0:842:99:0|1:1017440_C_T:6780,0,26030,8692,26653,35345:1017440	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	0/1:731,85,0:844:99:.:.:1369,0,30439,3569,30695,34264	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	0/1:752,109,0:861:99:.:.:2313,0,31009,4577,31338,35914	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	0/1:489,173,68,108:838:99:.:.:5605,0,19146,4285,16952,25023,2570,15277,20661,23194	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	0/1:528,324,0:852:99:.:.:11841,0,19996,13429,20971,34400	0	0	15	2
chr11	1017529	1017529	G	0	exonic	MUC6	.	.	.	.	.	367	747	232	0	176	408	0.134415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	10324.21	612	chr11	1017529	.	G	A,*	10324.21	.	AC=7,4;AF=0.219,0.125;AN=32;BaseQRankSum=-1.543e+00;DP=14485;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.4712;MLEAC=8,5;MLEAF=0.250,0.156;MQ=56.16;MQRankSum=-5.112e+00;QD=1.18;ReadPosRankSum=4.45;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:730,143,0:873:99:.:.:2020,0,29289,4217,29718,33935	5	0	7	5
chr11	1017552	1017552	T	0	exonic	MUC6	.	.	.	.	.	0	77	100	0	49	149	0.393701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	9377.78	461	chr11	1017552	.	T	C,*	9377.78	.	AC=8,2;AF=0.235,0.059;AN=34;BaseQRankSum=-1.657e+00;DP=12232;ExcessHet=6.1002;FS=0.621;InbreedingCoeff=-0.4000;MLEAC=9,2;MLEAF=0.265,0.059;MQ=58.98;MQRankSum=1.86;QD=1.78;ReadPosRankSum=0.813;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:514,101,0:615:99:.:.:1242,0,15559,2785,15862,18647	7	0	8	4
chr11	1017596	1017596	T	0	exonic	MUC6	.	.	.	.	.	389	572	462	1	98	562	0.288557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3056	13853.16	475	chr11	1017596	.	T	G,*	13853.16	.	AC=9,2;AF=0.250,0.056;AN=36;BaseQRankSum=-3.120e-01;DP=12315;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.4237;MLEAC=10,2;MLEAF=0.278,0.056;MQ=59.48;MQRankSum=0.00;QD=2.25;ReadPosRankSum=0.130;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:522,91,0:613:99:.:.:976,0,16941,2543,17212,19755	7	0	9	3
chr11	1017655	1017655	G	0	exonic	MUC6	.	.	.	.	.	390	675	445	0	12	457	0.247911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	15394.48	526	chr11	1017655	.	G	A,*	15394.48	.	AC=11,1;AF=0.262,0.024;AN=42;BaseQRankSum=0.846;DP=13673;ExcessHet=9.6308;FS=0.000;InbreedingCoeff=-0.4000;MLEAC=11,1;MLEAF=0.262,0.024;MQ=59.47;MQRankSum=0.935;QD=2.07;ReadPosRankSum=0.561;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:507,98,0:605:99:.:.:1281,0,14604,2801,14896,17697	9	0	11	0
chr11	1018226	1018226	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	11874.25	178	chr11	1018226	.	T	G,*	11874.25	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=4.07;DP=3953;ExcessHet=20.9642;FS=12.534;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=57.35;MQRankSum=-8.912e+00;QD=3.83;ReadPosRankSum=0.169;SOR=1.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:140,49,14:203:99:.:.:1581,0,5697,1420,5260,7307	5	0	15	0
chr11	1018228	1018228	G	0	exonic	MUC6	.	.	.	.	.	413	954	154	0	1	155	0.0746848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	1624.13	178	chr11	1018228	.	G	*,A	1624.13	.	AC=5,11;AF=0.119,0.262;AN=42;BaseQRankSum=2.18;DP=4019;ExcessHet=20.9642;FS=26.259;InbreedingCoeff=-0.6149;MLEAC=5,11;MLEAF=0.119,0.262;MQ=57.37;MQRankSum=-8.668e+00;QD=0.53;ReadPosRankSum=-1.860e+00;SOR=3.039	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:176,14,13:203:49:.:.:49,0,7464,67,6818,7352	5	0	5	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L,	.	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	N	0	N	2.32	T	-1.013	T	0.014	T	0.033	-1.839	0.009	-4.82	-3.424	-4.810	0.642	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	5589.96	253	chr11	1018290	.	G	A,C	5589.96	.	AC=10,5;AF=0.238,0.119;AN=42;BaseQRankSum=4.42;DP=5021;ExcessHet=17.4423;FS=18.255;InbreedingCoeff=-0.5555;MLEAC=10,5;MLEAF=0.238,0.119;MQ=55.33;MQRankSum=-6.736e+00;QD=1.48;ReadPosRankSum=0.802;SOR=2.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:218,17,21:256:99:.:.:226,168,9271,0,8440,9091	6	0	10	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|1:3,177,0:180:99:1|1:1095948_C_G:6813,495,0,6821,530,6857:1095948	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|1:2,188,0,0:190:99:1|1:1095948_C_G:7013,534,0,7019,563,7047,7019,563,7047,7047:1095948	0	19	0	0
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	37726.02	456	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	T,*	37726.02	.	AC=12,8;AF=0.286,0.190;AN=42;BaseQRankSum=2.69;DP=11682;ExcessHet=26.8223;FS=0.000;InbreedingCoeff=-0.7182;MLEAC=12,8;MLEAF=0.286,0.190;MQ=57.74;MQRankSum=-5.520e+00;QD=5.63;ReadPosRankSum=-1.130e+00;SOR=0.704	GT:AD:DP:GQ:PL	0/1:271,67,0:338:99:1967,0,10802,2782,11099,13880	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	0/1:271,67,0:338:99:.:.:1967,0,10802,2782,11099,13880	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	0/1:271,67,0:338:99:.:.:1967,0,10802,2782,11099,13880	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	0/1:271,67,0:338:99:.:.:1967,0,10802,2782,11099,13880	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	0/2:271,0,67:338:99:.:.:1967,2782,13880,0,11099,10802	0	1	1	6
chr11	1096181	1096181	C	0	exonic	MUC2	.	.	.	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4643	3441.94	473	chr11	1096181	.	C	*,G	3441.94	.	AC=11,2;AF=0.393,0.071;AN=28;BaseQRankSum=0.590;DP=9622;ExcessHet=13.8672;FS=0.000;InbreedingCoeff=-0.5837;MLEAC=14,3;MLEAF=0.500,0.107;MQ=56.12;MQRankSum=-2.654e+00;QD=0.82;ReadPosRankSum=0.675;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:271,67,0:338:99:.:.:1967,0,10802,2782,11099,13880	1	0	11	7
chr11	1096181	1096181	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0051	0.0024	0.0025	0.0031	0.0023	0.0023	0.0022	0.0022	0.0004	0.0017	0.0035	0	0.0156	0.0031	0.0023	0.0036	0.0004	0.0006	0.0013	0.0007	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	5.841e-05	0	0.0007	0.0008	0	0.0011	0	0.0010	0.0012	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4643	3441.94	473	chr11	1096181	.	C	*,G	3441.94	.	AC=11,2;AF=0.393,0.071;AN=28;BaseQRankSum=0.590;DP=9622;ExcessHet=13.8672;FS=0.000;InbreedingCoeff=-0.5837;MLEAC=14,3;MLEAF=0.500,0.107;MQ=56.12;MQRankSum=-2.654e+00;QD=0.82;ReadPosRankSum=0.675;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:271,67,0:338:99:.:.:1967,0,10802,2782,11099,13880	1	0	11	7
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	1/2:0,40,89:129:85:.:.:3059,368,85,1292,0,1521	0	19	0	0
chr11	1096735	1096735	G	0	exonic	MUC2	.	.	.	.	.	77	124	16	7	2	32	0.107914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	1024.05	19	chr11	1096735	.	G	*,A	1024.05	.	AC=1,7;AF=0.056,0.389;AN=18;BaseQRankSum=2.66;DP=578;ExcessHet=6.7594;FS=42.548;InbreedingCoeff=-0.2647;MLEAC=2,11;MLEAF=0.111,0.611;MQ=49.97;MQRankSum=-7.400e-01;QD=5.25;ReadPosRankSum=0.358;SOR=1.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,89,2:106:99:0|1:1096735_G_*:158,0,541,123,548,745:1096735	1	0	1	12
chr11	1096742	1096745	ATCT	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	123.76	27	chr11	1096742	.	ATCT	A,*	123.76	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=2.76;DP=634;ExcessHet=0.1190;FS=6.474;InbreedingCoeff=0.2614;MLEAC=1,1;MLEAF=0.026,0.026;MQ=54.35;MQRankSum=8.93;QD=0.97;ReadPosRankSum=2.73;SOR=1.141	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:25,1,89:115:99:0|1:1096735_G_*:127,158,1203,0,1007,999:1096735	17	0	1	2
chr11	1096743	1096743	T	C	exonic	MUC2	.	unknown	UNKNOWN,	.	.	924	586	6	0	6	12	0.00509338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0052	0.0026	0.0024	0.0059	0.0023	0.0023	0.0041	0.0038	0.0056	0.0031	0.0026	0.0059	0.0052	0.0046	0.0020	0.0024	0.0050	0	0.0010	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	0.1667	203.35	26	chr11	1096743	.	T	C,*	203.35	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=3.41;DP=638;ExcessHet=0.3672;FS=16.536;InbreedingCoeff=-0.1805;MLEAC=2,4;MLEAF=0.111,0.222;MQ=41.03;MQRankSum=-5.050e-01;QD=1.38;ReadPosRankSum=-2.728e+00;SOR=1.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:25,0,89:115:99:0|1:1096735_G_*:127,207,1295,0,1094,999:1096735	6	0	1	12
chr11	1096743	1096743	T	0	exonic	MUC2	.	.	.	.	.	924	586	6	0	6	12	0.00509338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	203.35	26	chr11	1096743	.	T	C,*	203.35	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=3.41;DP=638;ExcessHet=0.3672;FS=16.536;InbreedingCoeff=-0.1805;MLEAC=2,4;MLEAF=0.111,0.222;MQ=41.03;MQRankSum=-5.050e-01;QD=1.38;ReadPosRankSum=-2.728e+00;SOR=1.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:25,0,89:115:99:0|1:1096735_G_*:127,207,1295,0,1094,999:1096735	6	0	1	12
chr11	1096745	1096745	T	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0002	0.0002	0.0001	0.0022	0.0001	0.0001	0.0012	0.0009	0.0022	0.0002	0	0	0.0005	0.0014	9.592e-05	0.0002	0.0001	0	5.35e-05	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	0.1667	202.48	32	chr11	1096745	.	T	G,*	202.48	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=3.10;DP=647;ExcessHet=0.3672;FS=8.093;InbreedingCoeff=-0.1514;MLEAC=2,4;MLEAF=0.111,0.222;MQ=40.71;MQRankSum=-2.443e+00;QD=1.38;ReadPosRankSum=-2.505e+00;SOR=1.345	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:25,0,89:115:99:0|1:1096735_G_*:127,207,1295,0,1094,999:1096735	6	0	1	12
chr11	1096745	1096745	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	202.48	32	chr11	1096745	.	T	G,*	202.48	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=3.10;DP=647;ExcessHet=0.3672;FS=8.093;InbreedingCoeff=-0.1514;MLEAC=2,4;MLEAF=0.111,0.222;MQ=40.71;MQRankSum=-2.443e+00;QD=1.38;ReadPosRankSum=-2.505e+00;SOR=1.345	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:25,0,89:115:99:0|1:1096735_G_*:127,207,1295,0,1094,999:1096735	6	0	1	12
chr11	1097113	1097113	-	ACCCCAACACCCACCGGCACACAGACCCCAACATCGACACCCATCACCACCACCACTACGGTG	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	480.94	140	chr11	1097113	.	A	AACCCCAACACCCACCGGCACACAGACCCCAACATCGACACCCATCACCACCACCACTACGGTG	480.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.43;DP=2258;ExcessHet=0.0000;FS=32.905;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.28;MQRankSum=-1.502e+00;QD=4.86;ReadPosRankSum=3.01;SOR=3.488	GT:AD:DP:GQ:PL	0/1:81,18:99:99:495,0,3304	20	0	1	0
chr11	1097308	1097308	-	ACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT	exonic	MUC2	.	unknown	UNKNOWN,	.	.	646	865	11	0	0	11	0.00631821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0020	0.0020	0.0024	0.0112	0.0021	0.0021	0.0102	0.0098	0.0017	0.0027	0.0027	0.0112	0.0033	0.0023	0.0016	0.0026	0.0033	5.6e-05	8.507e-05	6.629e-05	4.543e-05	7.101e-05	2.136e-05	1.388e-05	1.883e-05	1.022e-05	4.239e-05	0	0	0	0	0.0002	0	7.101e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	3629.07	88	chr11	1097308	.	C	CACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT	3629.07	.	AC=6;AF=0.150;AN=40;BaseQRankSum=0.894;DP=4713;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1831;MLEAC=6;MLEAF=0.150;MQ=38.56;MQRankSum=1.03;QD=2.33;ReadPosRankSum=-3.810e+00;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:172,44:216:99:.:.:545,0,4367	14	0	6	1
chr11	1097515	1097534	TACGGTGACCCCAACCCCAA	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.396e-06	1.483e-05	7.938e-06	4.832e-06	8.367e-06	2.75e-06	1.99e-06	3.6e-06	2.6e-06	0	0	0	0	0	0	8.367e-06	0	0	1.007e-05	1.46e-05	1.968e-05	0	2.347e-05	0	0	.	.	0	0	0	0	0	0	0	2.347e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	70.94	280	chr11	1097514	.	CTACGGTGACCCCAACCCCAA	C	70.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.528;DP=4343;ExcessHet=0.0000;FS=7.161;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.76;MQRankSum=-3.883e+00;QD=0.25;ReadPosRankSum=-5.465e+00;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:263,23:286:85:0|1:1097514_CTACGGTGACCCCAACCCCAA_C:85,0,10495:1097514	20	0	1	0
chr11	1097517	1097586	CGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	122.03	280	chr11	1097517	.	CGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	*,C	122.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-3.890e-01;DP=4451;ExcessHet=0.1072;FS=4.260;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=50.11;MQRankSum=-6.312e+00;QD=0.28;ReadPosRankSum=2.03;SOR=0.749	GT:AD:DP:GQ:PL	0/1:215,29,0:244:79:79,0,12984,727,8575,9360	19	0	1	0
chr11	1097518	1097586	GGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	622	891	5	3	1	12	0.00613497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0045	0.0018	0.0030	0.0024	0.0023	0.0023	0.0023	0.0023	0.0024	0.0021	0.0018	0.0008	0.0052	0.0019	0.0024	0.0033	0.0019	4.707e-05	0.0008	1.834e-05	7.737e-05	8.495e-05	1.776e-05	1.199e-05	2.881e-05	1.734e-05	0	0	0	0	0	0.0002	0	8.495e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	122.03	280	chr11	1097517	.	CGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	*,C	122.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-3.890e-01;DP=4451;ExcessHet=0.1072;FS=4.260;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=50.11;MQRankSum=-6.312e+00;QD=0.28;ReadPosRankSum=2.03;SOR=0.749	GT:AD:DP:GQ:PL	0/1:215,29,0:244:79:79,0,12984,727,8575,9360	19	0	1	0
chr11	1097538	1097586	CCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.362e-05	7.074e-05	3.414e-05	3.308e-05	3.737e-05	2.516e-05	2.21e-05	2.665e-05	2.344e-05	0	0	0	2.997e-05	3.286e-05	0	3.737e-05	8.088e-05	0	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	202.03	280	chr11	1097537	.	CCCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	C,*	202.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.41;DP=4097;ExcessHet=0.1072;FS=4.260;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=51.32;MQRankSum=-6.900e+00;QD=0.47;ReadPosRankSum=-6.401e+00;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:215,29,0:244:99:0|1:1097514_CTACGGTGACCCCAACCCCAA_C:216,0,11457,866,8578,9499:1097514	19	0	1	0
chr11	1097537	1097586	CCCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	202.03	280	chr11	1097537	.	CCCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	C,*	202.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.41;DP=4097;ExcessHet=0.1072;FS=4.260;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=51.32;MQRankSum=-6.900e+00;QD=0.47;ReadPosRankSum=-6.401e+00;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:215,29,0:244:99:0|1:1097514_CTACGGTGACCCCAACCCCAA_C:216,0,11457,866,8578,9499:1097514	19	0	1	0
chr11	1097561	1097561	A	0	exonic	MUC2	.	.	.	.	.	747	760	8	1	6	16	0.00653595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	70.26	172	chr11	1097561	.	A	*,T	70.26	.	AC=3,2;AF=0.125,0.083;AN=24;BaseQRankSum=-1.230e+00;DP=3863;ExcessHet=1.3000;FS=0.790;InbreedingCoeff=-0.1465;MLEAC=4,2;MLEAF=0.167,0.083;MQ=53.93;MQRankSum=-6.511e+00;QD=0.08;ReadPosRankSum=-2.930e+00;SOR=0.787	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,29,9:213:99:0|1:1097561_A_*:737,0,6828,703,6541,7740:1097561	7	0	3	9
chr11	1097584	1097584	C	0	exonic	MUC2	.	.	.	.	.	640	870	3	3	6	15	0.0051458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	68.96	172	chr11	1097584	.	C	*,T	68.96	.	AC=2,2;AF=0.111,0.111;AN=18;BaseQRankSum=2.39;DP=3969;ExcessHet=0.6776;FS=1.941;InbreedingCoeff=-0.3284;MLEAC=4,4;MLEAF=0.222,0.222;MQ=55.29;MQRankSum=-7.894e+00;QD=0.09;ReadPosRankSum=0.222;SOR=0.910	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,29,9:217:99:0|1:1097561_A_*:722,0,7262,706,6996,8344:1097561	5	0	2	12
chr11	1097584	1097584	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	640	870	3	3	6	15	0.0051458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409182406	0.0007	0.0023	0.0006	0.0007	0.0014	0.0006	0.0006	0.0010	0.0009	0.0014	0.0009	0.0007	0.0011	0.0021	0.0003	0.0006	0.0007	0.0009	0.0004	0.0014	0.0002	0.0005	0.0016	0.0002	0.0001	0.0001	6.105e-05	0.0004	0	0.0004	0.0015	0	0.0008	0	0.0002	0	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	0.2222	68.96	172	chr11	1097584	.	C	*,T	68.96	.	AC=2,2;AF=0.111,0.111;AN=18;BaseQRankSum=2.39;DP=3969;ExcessHet=0.6776;FS=1.941;InbreedingCoeff=-0.3284;MLEAC=4,4;MLEAF=0.222,0.222;MQ=55.29;MQRankSum=-7.894e+00;QD=0.09;ReadPosRankSum=0.222;SOR=0.910	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,29,9:217:99:0|1:1097561_A_*:722,0,7262,706,6996,8344:1097561	5	0	2	12
chr11	1097586	1097586	T	0	exonic	MUC2	.	.	.	.	.	793	716	5	2	6	15	0.00624566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	34.69	172	chr11	1097586	.	T	*,C	34.69	.	AC=2,1;AF=0.100,0.050;AN=20;BaseQRankSum=2.33;DP=4017;ExcessHet=0.4139;FS=1.843;InbreedingCoeff=0.0053;MLEAC=3,2;MLEAF=0.150,0.100;MQ=54.85;MQRankSum=-8.086e+00;QD=0.06;ReadPosRankSum=3.06;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,29,9:217:99:0|1:1097561_A_*:723,0,7262,710,6998,8389:1097561	7	0	2	11
chr11	1097593	1097593	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	711	807	3	1	0	5	0.00308833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1161748060	0.0021	0.0050	0.0020	0.0023	0.0027	0.0021	0.0020	0.0023	0.0022	0.0007	0.0018	0.0026	0.0003	0.0109	0.0014	0.0020	0.0024	0.0027	0.0043	0.0082	0.0035	0.0052	0.0070	0.0034	0.0031	0.0051	0.0045	0.0021	0	0.0042	0.0061	0	0.0050	0	0.0070	0	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	557.59	172	chr11	1097593	.	C	A	557.59	.	AC=1;AF=0.063;AN=16;BaseQRankSum=1.39;DP=4154;ExcessHet=0.0000;FS=7.226;InbreedingCoeff=0.0100;MLEAC=2;MLEAF=0.125;MQ=54.21;MQRankSum=-7.274e+00;QD=2.45;ReadPosRankSum=-3.386e+00;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,33:228:99:0|1:1097514_CTACGGTGACCCCAACCCCAA_C:564,0,7932:1097514	7	0	1	13
chr11	1097800	1097800	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1276421180	1.01e-05	6.21e-05	7.858e-06	1.219e-05	5.191e-05	4.35e-06	3.14e-06	1.46e-06	4e-07	5.191e-05	3.095e-05	0	0	0	0	5.473e-06	5.335e-05	1.507e-05	2.117e-05	3.157e-05	4.331e-05	0	9.397e-05	0	0	.	.	9.397e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	142.98	128	chr11	1097800	.	C	A	142.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.692e+00;DP=2205;ExcessHet=0.0000;FS=1.401;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=35.24;MQRankSum=2.23;QD=1.51;ReadPosRankSum=-3.890e-01;SOR=0.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,11:95:99:0|1:1097721_C_G:157,0,3206:1097721	20	0	1	0
chr11	1097805	1097805	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	683	827	12	0	0	12	0.00720288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.083e-05	0.0006	4.152e-05	2.074e-05	9.699e-05	2.144e-05	1.822e-05	2.385e-05	1.288e-05	9.699e-05	9e-05	9.62e-05	6.337e-05	0	0	2.691e-05	0	1.488e-05	4.208e-05	0.0002	4.311e-05	4.11e-05	0.0002	6.98e-06	2.61e-06	3.316e-05	1.363e-05	0.0002	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	0.1389	610.1	129	chr11	1097805	.	C	A,T	610.1	.	AC=4,1;AF=0.111,0.028;AN=36;BaseQRankSum=-3.609e+00;DP=2223;ExcessHet=1.1607;FS=29.852;InbreedingCoeff=-0.1831;MLEAC=4,1;MLEAF=0.111,0.028;MQ=35.19;MQRankSum=-9.600e-02;QD=1.08;ReadPosRankSum=-6.300e-01;SOR=4.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:75,7,9:91:99:.:.:133,104,2860,0,2323,2754	13	0	4	3
chr11	1097805	1097805	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.542e-06	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	0.1389	610.1	129	chr11	1097805	.	C	A,T	610.1	.	AC=4,1;AF=0.111,0.028;AN=36;BaseQRankSum=-3.609e+00;DP=2223;ExcessHet=1.1607;FS=29.852;InbreedingCoeff=-0.1831;MLEAC=4,1;MLEAF=0.111,0.028;MQ=35.19;MQRankSum=-9.600e-02;QD=1.08;ReadPosRankSum=-6.300e-01;SOR=4.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:75,7,9:91:99:.:.:133,104,2860,0,2323,2754	13	0	4	3
chr11	1098518	1098518	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	658	861	3	0	0	3	0.00173913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1315730742	0.0008	0.0016	0.0008	0.0008	0.0040	0.0008	0.0007	0.0032	0.0030	0.0014	0.0004	0.0012	0.0040	0.0019	0.0003	0.0007	0.0011	0.0004	0.0007	0.0012	0.0006	0.0007	0.0050	0.0004	0.0003	0.0005	0.0004	0.0004	0	0	0	0	0	0	0.0012	0	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.125	2125.72	120	chr11	1098518	.	C	T	2125.72	.	AC=4;AF=0.125;AN=32;BaseQRankSum=-1.266e+00;DP=3397;ExcessHet=0.6776;FS=8.269;InbreedingCoeff=-0.1833;MLEAC=5;MLEAF=0.156;MQ=45.75;MQRankSum=1.12;QD=3.03;ReadPosRankSum=-3.120e+00;SOR=0.997	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,27:210:99:0|1:1098518_C_T:213,0,7149:1098518	12	0	4	5
chr11	1098538	1098538	T	C	exonic	MUC2	.	unknown	UNKNOWN,	.	.	674	844	4	0	0	4	0.00236407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169334096	0.0032	0.0055	0.0033	0.0031	0.0031	0.0031	0.0030	0.0030	0.0029	0.0010	0.0019	0.0052	0.0011	0.0223	0.0025	0.0031	0.0044	0.0012	0.0150	0.0054	0.0122	0.0179	0.0232	0.0120	0.0110	0.0178	0.0159	0.0027	0	0.0049	0.0104	0.0053	0.0249	0.1000	0.0232	0.0323	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2083	2025.55	120	chr11	1098538	.	T	C	2025.55	.	AC=5;AF=0.208;AN=24;BaseQRankSum=2.06;DP=3920;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.2947;MLEAC=7;MLEAF=0.292;MQ=45.13;MQRankSum=-5.024e+00;QD=2.34;ReadPosRankSum=-1.951e+00;SOR=0.571	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:191,23:214:99:0|1:1098518_C_T:236,0,7767:1098518	7	0	5	9
chr11	1098544	1098544	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	658	862	2	0	0	2	0.00115875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1448886114	7.358e-05	0.0003	6.518e-05	8.21e-05	0.0008	6.06e-05	5.573e-05	0.0005	0.0004	8.331e-05	9.522e-05	4.776e-05	0.0008	0.0002	0.0002	5.216e-05	0.0002	0	0	9.614e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	776.3	120	chr11	1098544	.	C	A	776.3	.	AC=4;AF=0.100;AN=40;BaseQRankSum=1.96;DP=3953;ExcessHet=0.6776;FS=10.427;InbreedingCoeff=-0.1200;MLEAC=4;MLEAF=0.100;MQ=45.11;MQRankSum=-4.687e+00;QD=1.17;ReadPosRankSum=-1.717e+00;SOR=1.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,20:207:99:0|1:1098518_C_T:266,0,7730:1098518	16	0	4	1
chr11	1098548	1098548	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	658	860	4	0	0	4	0.00232019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1371567749	0.0016	0.0017	0.0017	0.0015	0.0531	0.0015	0.0015	0.0504	0.0493	0.0531	0.0022	0.0001	0.0015	0.0006	0.0033	0.0002	0.0039	0.0001	0.0048	0.0059	0.0048	0.0048	0.0239	0.0040	0.0037	0.0198	0.0183	0.0239	0	0.0014	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1053	678.77	120	chr11	1098548	.	C	T	678.77	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.80;DP=3975;ExcessHet=0.6776;FS=8.640;InbreedingCoeff=-0.1351;MLEAC=4;MLEAF=0.105;MQ=44.89;MQRankSum=-4.819e+00;QD=1.05;ReadPosRankSum=-7.590e-01;SOR=1.554	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,17:195:99:0|1:1098518_C_T:167,0,7341:1098518	15	0	4	2
chr11	1098777	1098845	CCAACCCCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCTCCACCACCACTACGGTGACC	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	639	874	7	1	1	10	0.00512237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.043e-05	7.996e-05	2.655e-05	5.474e-05	0.0003	3.027e-05	2.684e-05	0.0002	0.0001	0.0001	0	5.758e-05	0	4.211e-05	0	2.517e-05	4.912e-05	0.0003	0.0001	0.0002	8.313e-05	0.0002	0.0015	3.312e-05	1.817e-05	.	.	0	0	0	0.0015	0.0015	0	0	7.545e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	550.99	162	chr11	1098776	.	ACCAACCCCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCTCCACCACCACTACGGTGACC	A,*	550.99	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=1.03;DP=3718;ExcessHet=0.1072;FS=0.872;InbreedingCoeff=-0.1203;MLEAC=1,1;MLEAF=0.031,0.031;MQ=35.17;MQRankSum=-2.072e+00;QD=2.40;ReadPosRankSum=2.82;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:80,19,0:99:99:.:.:563,0,3169,833,3267,4298	14	0	1	5
chr11	1098776	1098845	ACCAACCCCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCTCCACCACCACTACGGTGACC	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	550.99	162	chr11	1098776	.	ACCAACCCCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCTCCACCACCACTACGGTGACC	A,*	550.99	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=1.03;DP=3718;ExcessHet=0.1072;FS=0.872;InbreedingCoeff=-0.1203;MLEAC=1,1;MLEAF=0.031,0.031;MQ=35.17;MQRankSum=-2.072e+00;QD=2.40;ReadPosRankSum=2.82;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:80,19,0:99:99:.:.:563,0,3169,833,3267,4298	14	0	1	5
chr11	1098781	1098781	C	0	exonic	MUC2	.	.	.	.	.	634	850	36	0	2	38	0.0207373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2647	3468.15	182	chr11	1098781	.	C	T,*	3468.15	.	AC=7,2;AF=0.206,0.059;AN=34;BaseQRankSum=5.51;DP=3838;ExcessHet=4.7172;FS=16.398;InbreedingCoeff=-0.3588;MLEAC=8,2;MLEAF=0.235,0.059;MQ=37.99;MQRankSum=1.81;QD=2.74;ReadPosRankSum=6.000e-03;SOR=1.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:45,19,23:87:99:0|1:1098716_A_G:834,197,2316,0,1110,1811:1098716	8	0	7	4
chr11	1098794	1098794	C	0	exonic	MUC2	.	.	.	.	.	660	820	40	0	2	42	0.0238095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	2288.8	166	chr11	1098794	.	C	T,*	2288.8	.	AC=8,2;AF=0.222,0.056;AN=36;BaseQRankSum=4.68;DP=3810;ExcessHet=6.1002;FS=15.276;InbreedingCoeff=-0.3771;MLEAC=9,2;MLEAF=0.250,0.056;MQ=37.26;MQRankSum=1.73;QD=1.52;ReadPosRankSum=-1.122e+00;SOR=1.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:48,17,23:88:99:0|1:1098716_A_G:825,277,2487,0,1317,1937:1098716	8	0	8	3
chr11	1098812	1098812	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1962.92	133	chr11	1098812	.	C	A,*	1962.92	.	AC=9,3;AF=0.250,0.083;AN=36;BaseQRankSum=2.08;DP=3561;ExcessHet=9.6308;FS=3.400;InbreedingCoeff=-0.4724;MLEAC=10,3;MLEAF=0.278,0.083;MQ=36.45;MQRankSum=0.209;QD=1.00;ReadPosRankSum=-2.579e+00;SOR=1.127	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:53,12,23:88:99:0|1:1098716_A_G:805,464,2677,0,1707,2152:1098716	6	0	9	3
chr11	1098813	1098813	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1884.38	133	chr11	1098813	.	C	*,T	1884.38	.	AC=3,9;AF=0.083,0.250;AN=36;BaseQRankSum=2.50;DP=3551;ExcessHet=9.6308;FS=3.047;InbreedingCoeff=-0.4710;MLEAC=3,10;MLEAF=0.083,0.278;MQ=36.42;MQRankSum=-1.580e-01;QD=0.91;ReadPosRankSum=-2.579e+00;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,23,12:88:99:0|1:1098716_A_G:805,0,2152,464,1707,2677:1098716	6	0	3	3
chr11	1098825	1098825	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2308	697.62	108	chr11	1098825	.	T	A,*	697.62	.	AC=4,2;AF=0.154,0.077;AN=26;BaseQRankSum=3.00;DP=3021;ExcessHet=1.7912;FS=0.664;InbreedingCoeff=-0.3114;MLEAC=5,3;MLEAF=0.192,0.115;MQ=36.82;MQRankSum=0.477;QD=0.77;ReadPosRankSum=-2.954e+00;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:56,10,23:89:99:0|1:1098716_A_G:794,577,2771,0,1846,2261:1098716	7	0	4	8
chr11	1099366	1099435	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	22453.21	278	chr11	1099366	.	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	CGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC,T,*	22453.21	.	AC=8,3,2;AF=0.308,0.115,0.077;AN=26;BaseQRankSum=1.50;DP=6647;ExcessHet=1.2656;FS=0.000;InbreedingCoeff=0.0574;MLEAC=11,4,3;MLEAF=0.423,0.154,0.115;MQ=53.25;MQRankSum=-1.319e+00;QD=10.10;ReadPosRankSum=-2.293e+00;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,27,0,0:212:99:0|1:1099366_T_C:169,0,4668,717,4747,5464,717,4747,5464,5464:1099366	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|1:1,211,0:212:99:1|1:1099366_T_C:6482,592,0,6485,630,6522:1099366	0	15	0	0
chr11	1099776	1099776	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.0	B	0.001	B	.	.	1.000	N	.	.	3.1	T	-0.979	T	0.013	T	0.145	-4.178	0.001	-2.65	-5.510	-5.137	3.945	0.009	0.0392152609865	.	0.000599042	0.0003	0.0002	0	0	0	3.035e-05	0	0.0020	0.0002458	38	154602	rs551228370	0.0001	0.0001	0.0001	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	2.987e-05	0	0	0	0	0.0003	2.969e-05	0.0002	0.0017	0.0001	0.0001	7.714e-05	0.0001	0.0012	6.511e-05	5.322e-05	0.0005	0.0004	0.0002	0	0	0	0	0	0	2.942e-05	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	5527.98	43	chr11	1099776	.	C	T	5527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.178e+00;DP=3175;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=0.635;SOR=0.683	GT:AD:DP:GQ:PL	0/1:189,218:407:99:5542,0,4734	20	0	1	0
chr11	1185059	1185059	G	0	exonic	MUC5AC	.	.	.	.	.	444	914	43	0	121	164	0.0229824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	12884.83	715	chr11	1185059	.	G	A,*	12884.83	.	AC=3,6;AF=0.094,0.188;AN=32;BaseQRankSum=5.90;DP=14044;ExcessHet=4.7172;FS=6.096;InbreedingCoeff=-0.3770;MLEAC=4,7;MLEAF=0.125,0.219;MQ=58.38;MQRankSum=-1.742e+01;QD=2.15;ReadPosRankSum=-2.445e+00;SOR=1.196	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:685,0,196:881:99:0|1:1185018_A_C:6168,8230,36957,0,28727,28137:1185018	7	0	3	5
chr11	1191078	1191078	T	0	exonic	MUC5AC	.	.	.	.	.	444	1027	30	0	21	51	0.0143954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1149.45	693	chr11	1191078	.	T	C,*	1149.45	.	AC=2,1;AF=0.056,0.028;AN=36;BaseQRankSum=1.85;DP=14543;ExcessHet=0.3300;FS=0.851;InbreedingCoeff=-0.1200;MLEAC=2,1;MLEAF=0.056,0.028;MQ=57.97;MQRankSum=-1.375e+01;QD=0.40;ReadPosRankSum=5.91;SOR=0.810	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:945,176,0:1121:99:.:.:1026,0,25802,3998,28188,37905	15	0	2	3
chr11	1883477	1883477	A	G	exonic	LSP1	.	nonsynonymous SNV	LSP1:NM_001013253:exon4:c.A229G:p.S77G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.435	B	0.145	B	0.255	N	1.000	N	0.345	N	1.93	T	-1.073	T	0.034	T	0.093	0.576	7.108	-5.18	-1.090	-0.310	1.514	0.024	0.00543686984645	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1473317251	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.39575	T	0.368	0.20228	T	0.118	0.26577	B	0.026	0.20792	B	0.255063	0.03672	N	1.882580	1	0.08975	N	0.205	0.09354	N	1.93	0.31731	T	-1.48	0.41046	N	0.08	0.05542	-1.0730	0.08766	T	0.034	0.14596	T	10	0.045357108	0.03597	T	0.005437	0.13984	T	0.024	0.04979	0.122	0.02867	0.112648838833	0.10856	0.051526831772740034	0.05094	0.0920708205007	0.10393	0.255605876446	0.04381	T	0.109067	0.42262	T	-0.314679	0.07342	T	-0.689791	0.06401	T	0.0968683956561819	0.12009	T	0.741926	0.36981	T	0.036585767	0.04528	0.038268883	0.03659	0.036585767	0.04528	0.038268883	0.03659	-3.721	0.21208	T	.	.	0.071	0.12228	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	-0.099618	0.03644	0.726	0.67441038848812185	0.08355	0.02983	0.07835	N	AEFBCI	0.097168	0.19604	N	-1.40210201184481	0.02620	0.1159674	-1.53248827868015	0.02099	0.09601812	0.985277456271489	0.30859	0.67177	0.52595	0	0.702456	0.74545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.02	-5.18	0.02624	-0.231000	0.09081	-3.523000	0.02722	-1.153000	0.01422	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3133:0.3888:0.1373:0.1606	1.514	0.02352	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	907.98	33	chr11	1883477	.	A	G	907.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.37;DP=746;ExcessHet=0.0000;FS=3.586;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.39;ReadPosRankSum=0.380;SOR=0.817	GT:AD:DP:GQ:PL	0/1:27,32:59:99:922,0,580	20	0	1	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	0/1:96,131:227:99:3160,0,2257	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	0/1:57,28,0:85:96:96,0,851,252,925,1177	12	0	5	1
chr11	4882319	4882319	C	G	exonic	OR51T1	.	nonsynonymous SNV	OR51T1:NM_001004759:exon1:c.C420G:p.D140E,	.	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.625	P	0.266	B	0.358	N	1.000	N	1.29	L	-0.54	T	-0.898	T	0.203	T	0.113	0.352	5.908	0.671	0.230	0.024	5.178	0.066	.	7.7e-05	0.0119808	0.0065	0.0003	8.666e-05	0	0	0.0002	0.0022	0.0467	0.0056597	875	154602	rs201593644	0.0028	0.0028	0.0016	0.0041	0.0432	0.0028	0.0027	0.0421	0.0416	0.0003	4.473e-05	0	0	5.616e-05	0.0017	0.0002	0.0033	0.0432	0.0014	0.0014	0.0007	0.0022	0.0411	0.0013	0.0012	0.0364	0.0346	0.0002	0	6.544e-05	0	0	9.422e-05	0	7.352e-05	0.0009	0.0411	0.038	0.45393	D	0.08	0.41913	T	0.625	0.40054	P	0.266	0.39732	B	0.358110	0.13712	N	0.632296	0.999999	0.08975	N	0.22	0.09567	N	-0.54	0.70950	T	-0.97	0.25770	N	0.345	0.39153	-0.8979	0.48205	T	0.203	0.56073	T	10	0.0033245385	0.00057	T	.	.	.	0.066	0.19193	0.285	0.24280	0.74454767171	0.74225	0.20167101588067432	0.20084	0.0943424440058	0.10650	0.207728296518	0.00719	T	0.021368	0.16653	T	-0.557999	0.00261	T	-0.540722	0.18225	T	0.00846592890273572	0.00103	T	0.105489	0.00786	T	0.05107077	0.09324	0.05060691	0.07978	0.05107077	0.09324	0.05060691	0.07978	-4.753	0.34039	T	.	.	0.188	0.40522	B	.;.	.;.	1.093746	0.14775	11.32	0.94428552991827375	0.24840	0.19624	0.20733	N	AEFDGBHCI	0.126789	0.24388	N	-0.765780386195459	0.14209	0.7059149	-0.869977703578487	0.12809	0.660992	0.999999999784766	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.68	0.671	0.17097	-0.060000	0.11669	.	.	-0.341000	0.05685	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:0.528:0.1401:0.3319	5.178	0.14469	714	0.56256	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3097.98	33	chr11	4882319	.	C	G	3097.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=922;ExcessHet=0.0000;FS=0.490;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=-1.578e+00;SOR=0.759	GT:AD:DP:GQ:PL	0/1:119,104:223:99:3112,0,3286	20	0	1	0
chr11	5351792	5351792	C	G	exonic	OR51B6	.	nonsynonymous SNV	OR51B6:NM_001004750:exon1:c.C285G:p.C95W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.72	H	6.65	T	-1.162	T	0.013	T	0.859	0.989	9.038	2.16	0.307	0.075	8.371	0.313	0.0559336047313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0093	0.0026	0.0022	0.0029	0.0023	0.0023	0.0028	0.0028	0.0027	6.717e-05	0.0009	0.0002	1.873e-05	0.0012	0.0029	0.0019	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000016	0.62929	D	0.000000	1	0.81001	D	4.81	0.99662	H	6.65	0.00510	T	-10.89	0.99244	D	0.807	0.80278	-1.1620	0.00709	T	0.013	0.05033	T	10	0.9621227	0.95635	D	0.055934	0.66418	D	0.313	0.63482	0.748	0.87905	0.527045900269	0.52351	0.471107557204946	0.47029	0.0116871865332	0.01096	0.339552879333	0.16371	T	0.119847	0.44167	T	0.113068	0.65668	D	-0.0753619	0.65240	T	0.99993371963501	0.99782	D	0.909809	0.68064	D	0.97552437	0.98751	0.92103964	0.96471	0.97552437	0.98751	0.92103964	0.96472	-8.765	0.66172	D	.	.	0.343	0.56118	A	.	.	2.116618	0.26937	17.29	0.98967027029080845	0.49442	0.39672	0.26265	N	AEFBI	0.767818	0.70356	D	0.108662788856825	0.46867	2.920579	-0.159160573312792	0.33057	1.887009	0.0102554648337644	0.11993	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	2.16	0.26663	-0.170000	0.09886	.	.	-1.712000	0.00741	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	0.0:0.6705:0.0:0.3295	8.371	0.31576	861	0.33516	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3438	1921.6	129	chr11	5351792	.	C	G	1921.6	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-4.528e+00;DP=3508;ExcessHet=7.7275;FS=256.706;InbreedingCoeff=-0.4658;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=1.01;ReadPosRankSum=0.281;SOR=11.086	GT:AD:DP:GQ:PL	0/1:130,56:186:99:352,0,3403	5	0	11	5
chr11	5545231	5545231	C	T	exonic	OR52H1	.	nonsynonymous SNV	OR52H1:NM_001005289:exon1:c.G293A:p.R98H,	.	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.941	P	0.557	P	0.738	N	1.000	N	1.14	L	1.16	T	-1.019	T	0.077	T	0.184	0.867	8.514	-0.208	-0.079	-2.743	6.163	0.100	.	.	.	0.0021	0	0.0002	0	0	3.32e-05	0	0.0140	3.84e-05	1	26028	rs201548701	0.0008	0.0008	0.0004	0.0013	0.0134	0.0008	0.0008	0.0128	0.0125	0.0001	0.0002	3.829e-05	5.076e-05	0	0.0005	8.998e-06	0.0008	0.0134	0.0006	0.0006	0.0004	0.0007	0.0139	0.0005	0.0004	0.0112	0.0103	9.63e-05	0	0.0008	0	0	0	0	1.47e-05	0.0005	0.0139	.	.	.	.	.	.	0.941	0.52883	P	0.557	0.49454	P	0.738441	0.06413	N	1.142310	1	0.08975	N	1.045	0.26769	L	.	.	.	.	.	.	.	.	-1.0194	0.23910	T	0.077	0.30767	T	10	0.004951805	0.00106	T	.	.	.	0.100	0.28662	.	.	0.345405024496	0.34151	0.10959946312795883	0.10888	0.0176181546198	0.01715	0.208594575524	0.00753	T	0.001772	0.01195	T	-0.267747	0.12010	T	-0.622377	0.11000	T	0.0173606778154766	0.00475	T	0.59464	0.22023	T	0.055836964	0.10906	0.046422653	0.06466	0.055836964	0.10905	0.046422653	0.06466	-3.331	0.14139	T	.	.	0.086	0.10545	B	.;.	.;.	0.425096	0.07954	4.667	0.98924431347046227	0.48620	0.02119	0.06263	N	AEFI	0.061760	0.11828	N	-0.616633353180256	0.18444	0.9576329	-0.762019256346626	0.15427	0.8113195	5.51231196832017E-4	0.07304	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.56	-0.208	0.12536	-2.524000	0.01024	.	.	0.592000	0.32167	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.0:0.3439:0.1371:0.519	6.163	0.19592	706	0.57215	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2346.98	151	chr11	5545231	.	C	T	2346.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=2992;ExcessHet=0.0000;FS=1.231;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=-5.880e-01;SOR=0.846	GT:AD:DP:GQ:PL	0/1:80,82:162:99:2361,0,2068	20	0	1	0
chr11	6390704	6390704	G	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	43	1200	222	19	38	298	0.0977444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2978.5	52	chr11	6390704	.	G	GCGC,*	2978.5	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=0.024;DP=1009;ExcessHet=0.0409;FS=0.508;InbreedingCoeff=0.3189;MLEAC=3,2;MLEAF=0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=0.059;SOR=0.647	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,19,43:62:99:1|0:6390700_CCTGGTGCTGGCG_C:2969,1827,1722,769,0,748:6390700	17	0	2	0
chr11	6390705	6390711	TGCTGGC	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	3|4:0,0,0,43,19,0:62:99:1|0:6390700_CCTGGTGCTGGCG_C:2969,2793,2818,2793,2818,2818,769,851,851,748,1827,1830,1830,0,1722,2793,2818,2818,851,1830,2818:6390700	0	5	0	0
chr11	6390705	6390705	-	GGC	exonic	SMPD1	.	nonframeshift insertion	SMPD1:NM_000543:exon1:c.107_108insGGC:p.V36_L37insA	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	66	5	343	388	720	1839	0.991143	.	.	526543	not_specified|not_provided|Niemann-Pick_disease,_type_B|Niemann-Pick_disease,_type_A	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293|MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0063	0.0019	0.0048	0.0047	0.0086	0.0021	0.0111	0.0252	0.0046895	725	154602	rs775568984	0.0048	0.0048	0.0041	0.0055	0.0294	0.0047	0.0046	0.0284	0.0280	0.0030	0.0070	0.0053	0.0069	0.0151	0.0054	0.0022	0.0059	0.0294	0.0053	0.0052	0.0042	0.0063	0.0345	0.0050	0.0048	0.0301	0.0284	0.0029	0	0.0061	0.0041	0.0086	0.0179	0.0221	0.0024	0.0015	0.0345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	3|4:0,0,0,43,19,0:62:99:1|0:6390700_CCTGGTGCTGGCG_C:2969,2793,2818,2793,2818,2818,769,851,851,748,1827,1830,1830,0,1722,2793,2818,2818,851,1830,2818:6390700	0	5	0	0
chr11	6941607	6941607	G	A	exonic	ZNF215	.	nonsynonymous SNV	ZNF215:NM_001354854:exon3:c.G437A:p.S146N	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.001	B	0.001	B	0.889	N	1.000	N	1	L	5.89	T	-0.956	T	0.011	T	0.013	0.169	4.909	-4.85	-1.657	-1.153	2.740	0.031	0.00166301673103	.	0.000199681	0.0002	0	0	0	0	0	0	0.0015	0.0001682	26	154602	rs566216656	9.783e-05	9.782e-05	4.22e-05	0.0002	0.0016	8.444e-05	7.922e-05	0.0014	0.0013	0	0	0	0	0	0	0	4.968e-05	0.0016	4.595e-05	4.593e-05	1.285e-05	8.054e-05	0.0015	2.107e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.137	0.25979	T	0.106	0.37872	T	0.0	0.02946	B	0.0	0.01387	B	0.888840	0.08702	N	0.943069	1	0.08975	N	1.55	0.39271	L	3.35	0.05989	T	-0.62	0.18248	N	0.045	0.01911	-0.9562	0.39879	T	0.011	0.04321	T	10	0.007712543	0.00175	T	0.001663	0.02728	T	0.031	0.07369	0.14	0.04369	0.163833314356	0.15978	0.054499116767162625	0.05391	0.00602193082573	0.00527	0.285837680101	0.08319	T	0.001403	0.00865	T	-0.755758	0.00016	T	-0.8716	0.00727	T	0.0189767772127643	0.00606	T	0.264174	0.04286	T	0.02593043	0.01587	0.04296043	0.05238	0.02593043	0.01586	0.04296043	0.05237	-3.711	0.19481	T	.	.	0.147	0.32348	B	.;.;.;.	.;.;.;.	-0.533071	0.01763	0.134	0.43922878360708179	0.03341	0.00781	0.03206	N	AEFBI	0.026928	0.02111	N	-1.57373853308554	0.01401	0.06107768	-1.67084737052575	0.01272	0.05734357	0.990746499214869	0.32255	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	4.32	-4.85	0.02911	-0.924000	0.04104	-0.372000	0.09600	-0.163000	0.11536	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.447:0.114:0.3236:0.1153	2.740	0.04928	758	0.50837	.;.;.;.	.	.	.	.	.	Uncertain significance	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	1056.98	33	chr11	6941607	.	G	A	1056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.160e-01;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.10;ReadPosRankSum=0.146;SOR=0.725	GT:AD:DP:GQ:PL	0/1:26,44:70:99:1071,0,581	20	0	1	0
chr11	6984177	6984177	C	T	exonic	ZNF215	.	nonsynonymous SNV	ZNF215:NM_001354854:exon7:c.C854T:p.S285L,	.	.	574	947	1	0	0	1	0.000527704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.829	P	0.32	B	.	.	1.000	N	.	.	5.84	T	-0.848	T	0.002	T	0.074	-2.552	0.003	0.149	0.192	0.212	.	0.029	0.00357091111485	.	0.000199681	0.0029	0	0	0	.	0	0	0.0045	0.0001358	21	154602	rs544923873	0.0007	0.0003	0.0003	0.0009	0.0030	0.0006	0.0005	0.0025	0.0024	0	0	0	0	0	0	4.956e-05	9.972e-05	0.0030	6.603e-05	6.576e-05	3.869e-05	9.471e-05	0.0019	3.533e-05	2.628e-05	0.0010	0.0007	2.421e-05	0	0	0	0	0	0	0	0	0.0019	0.014	0.53172	D	0.833	0.03685	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.84	0.00647	T	-0.34	0.12661	N	0.196	0.21580	-0.8476	0.52134	T	0.002	0.00707	T	7	0.010142028	0.00227	T	0.003571	0.08154	T	0.029	0.06676	0.451	0.51285	0.202086224978	0.19791	.	.	.	.	.	.	.	.	.	.	-0.680536	0.00048	T	-0.755246	0.03285	T	0.0644185772420052	0.07845	T	0.463454	0.13490	T	.	.	.	.	.	.	.	.	-3.38	0.14788	T	.	.	0.092	0.13690	B	.;.	.;.	0.773046	0.11430	8.039	0.081326982851089497	0.00058	0.00201	0.01154	N	AEFI	0.020695	0.00843	N	-0.793608252475571	0.13476	0.6641243	-1.04103361128004	0.08894	0.439634	0.198776666229778	0.18095	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	0.149	0.149	0.14158	0.212000	0.17289	0.297000	0.16936	0.243000	0.18268	0.002000	0.15269	0.001000	0.17328	0.002000	0.04165	.	.	.	794	0.45591	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	262.34	28	chr11	6984177	.	C	T	262.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.96;DP=567;ExcessHet=0.0000;FS=1.519;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=7.72;ReadPosRankSum=0.976;SOR=1.179	GT:AD:DP:GQ:PL	0/1:23,11:34:99:276,0,579	19	0	1	1
chr11	8640672	8640672	G	A	exonic	TRIM66	.	nonsynonymous SNV	TRIM66:NM_014818:exon9:c.C1268T:p.A423V,	.	.	433	1076	10	3	0	16	0.00738007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.265	B	0.074	B	0.711	N	0.999	N	1.67	L	2.22	T	-1.065	T	0.044	T	0.221	1.378	10.54	5.23	2.458	1.983	9.483	0.075	.	0.0026	.	0.0034	0	0.0024	0	0	0.0056	0.0149	0.0023	0.0007309	113	154602	rs201023559	0.0018	0.0017	0.0017	0.0019	0.0030	0.0017	0.0017	0.0025	0.0024	0.0002	0.0010	0.0159	2.798e-05	0.0006	0.0030	0.0015	0.0027	0.0028	0.0016	0.0016	0.0016	0.0016	0.0021	0.0015	0.0014	0.0019	0.0018	0.0002	0	0.0014	0.0167	0.0002	0.0003	0.0034	0.0021	0.0005	0.0019	0.007	0.63226	D	0.247	0.24054	T	0.265	0.31634	B	0.074	0.28220	B	0.711139	0.10013	N	0.847995	0.99876	0.21933	N	0.975	0.24501	L	2.22	0.18248	T	-0.34	0.12661	N	0.073	0.11340	-1.0649	0.10572	T	0.044	0.18906	T	10	0.0048727393	0.00104	T	.	.	.	0.075	0.21907	.	.	0.317667799068	0.31381	0.13300085741214776	0.13224	.	.	0.342824816704	0.16860	T	0.003345	0.02748	T	-0.534771	0.00360	T	-0.546175	0.17695	T	0.0304136835916939	0.02054	T	0.730127	0.34567	T	0.046097476	0.07657	0.07208847	0.15512	0.046097476	0.07657	0.07208847	0.15511	-3.443	0.15642	T	.	.	0.080	0.07697	B	.;.;.	.;.;.	2.407311	0.30938	18.59	0.98792263378419221	0.46317	0.84066	0.43151	D	AEFDGBI	0.103041	0.20655	N	-0.0441051428732156	0.39868	2.358027	0.0540653144450471	0.42270	2.553693	0.999918908304563	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.769059	0.98459	0	0.683762	0.67416	0	.	.	5.23	5.23	0.72570	2.042000	0.40844	7.509000	0.59594	0.610000	0.48991	0.983000	0.35670	1.000000	0.68203	0.971000	0.54645	0.0:0.1968:0.6684:0.1348	9.483	0.38078	362	0.84826	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2463.98	41	chr11	8640672	.	G	A	2463.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.285;DP=1046;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=-8.690e-01;SOR=0.703	GT:AD:DP:GQ:PL	0/1:109,112:221:99:2478,0,2389	20	0	1	0
chr11	10603227	10603227	A	T	exonic	IRAG1	.	nonsynonymous SNV	IRAG1:NM_001206881:exon12:c.T823A:p.C275S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.077	B	0.017	B	0.002	N	1.000	N	0.97	L	2.48	T	-1.054	T	0.025	T	0.28	2.194	13.29	5.63	2.257	2.266	11.243	0.029	0.00360112559653	8.1e-05	.	0.0002	0	0	0	0.0002	0.0003	0	0	0.0001294	20	154602	rs375240782	0.0001	0.0001	0.0001	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	0	6.709e-05	0.0020	0	0.0004	0.0009	0.0001	0.0002	2.32e-05	9.862e-05	0.0001	7.712e-05	0.0001	8.823e-05	6.01e-05	4.883e-05	3.763e-05	2.576e-05	2.414e-05	0	0	0.0009	0	0.0005	0	8.823e-05	0	0	0.266	0.17239	T	0.546	0.11968	T	.	.	.	.	.	.	0.001596	0.38554	N	0.299547	0.752273	0.29625	N	.	.	.	2.48	0.14657	T	-1.34	0.35399	N	0.25	0.35301	-1.0545	0.13172	T	0.025	0.10910	T	10	0.034205467	0.01621	T	0.003601	0.08247	T	0.029	0.06676	.	.	0.355658859761	0.35178	0.24394088943200626	0.24308	0.10099815204	0.11413	0.43475317955	0.29860	T	0.054444	0.29726	T	-0.381109	0.03066	T	-0.525534	0.19735	T	0.0395820292128215	0.03615	T	0.783222	0.41972	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.28664	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.306844	0.29522	18.15	0.8906579547555048	0.18482	0.87987	0.47723	D	AEFBI	0.680831	0.64439	D	-0.147880783383123	0.35325	2.027587	0.0598825068487348	0.42550	2.575718	0.99999517148414	0.74766	0.656854	0.48797	0	0.59043	0.45803	0	0.67347	0.61138	0	0.613276	0.41899	0	.	.	5.63	5.63	0.86108	2.255000	0.42877	6.635000	0.56164	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8635:0.0:0.0:0.1365	11.243	0.48211	415	0.81806	.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3161.28	34	chr11	10603227	.	A	T,*	3161.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=1.34;DP=912;ExcessHet=0.3300;FS=4.890;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=1.40;SOR=0.982	GT:AD:DP:GQ:PL	0/1:40,51,0:91:99:1273,0,880,1392,1032,2424	18	0	2	0
chr11	10603227	10603227	A	0	exonic	IRAG1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3161.28	34	chr11	10603227	.	A	T,*	3161.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=1.34;DP=912;ExcessHet=0.3300;FS=4.890;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=1.40;SOR=0.982	GT:AD:DP:GQ:PL	0/1:40,51,0:91:99:1273,0,880,1392,1032,2424	18	0	2	0
chr11	12209565	12209565	A	G	exonic	MICAL2	.	nonsynonymous SNV	MICAL2:NM_001282666:exon4:c.A658G:p.I220V	.	.	420	1073	26	3	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.384	B	0.275	B	0.000	D	0.000	P	1.305	L	-3.52	D	-0.156	T	0.169	T	0.272	2.744	15.14	5.3	2.223	4.732	15.074	0.392	.	0.0029	0.0127796	0.0095	0.0008	0.0021	0.0689	0.0094	0.0052	0.0110	0.0062	0.0088356	1366	154602	rs2306727	0.0063	0.0063	0.0062	0.0064	0.0900	0.0062	0.0062	0.0875	0.0865	0.0009	0.0019	0.0110	0.0900	0.0084	0.0161	0.0034	0.0063	0.0067	0.0055	0.0055	0.0050	0.0060	0.0687	0.0052	0.0051	0.0628	0.0605	0.0007	0	0.0012	0.0112	0.0687	0.0073	0.0034	0.0039	0.0090	0.0064	0.196	0.23095	T	0.414	0.18846	T	0.384	0.34453	B	0.275	0.40079	B	0.000009	0.62929	D	0.065055	8.13236e-05	0.53665	P	0.565	0.15224	N	-3.52	0.94729	D	-0.73	0.22078	N	0.182	0.19728	-0.1560	0.78769	T	0.169	0.50987	T	9	0.016178548	0.00340	T	.	.	.	0.392	0.70764	.	.	0.743643982366	0.74134	0.668593170123256	0.66797	0.417361578228	0.42357	0.365067064762	0.20121	T	0.029494	0.21121	T	-0.292411	0.09395	T	-0.105951	0.62932	T	0.0172870064269576	0.00469	T	0.926107	0.72788	D	0.06916211	0.15131	0.08680722	0.20137	0.06916211	0.15130	0.08680722	0.20136	-7.236	0.55739	T	.	.	0.091	0.24157	B	.;.;.	.;.;.	2.731477	0.35751	19.98	0.99595317556497898	0.73866	0.92954	0.56958	D	AEFGBI	0.590037	0.58668	D	0.0684662290078618	0.44996	2.763673	0.228118151901001	0.51414	3.324089	0.999999932732362	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	5.870000	0.69370	4.174000	0.42293	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.074	0.71728	895	0.25842	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1174.98	34	chr11	12209565	.	A	G	1174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.762e+00;DP=808;ExcessHet=0.0000;FS=1.514;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=-5.160e-01;SOR=0.605	GT:AD:DP:GQ:PL	0/1:56,55:111:99:1189,0,1445	20	0	1	0
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|1:0,69,4:73:53:1|1:12294839_CCTA_C:3099,287,0,2350,53,2679:12294839	6	2	6	4
chr11	18231579	18231579	C	T	exonic	SAA2-SAA4;SAA4	.	nonsynonymous SNV	SAA4:NM_006512:exon4:c.G316A:p.E106K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.262	B	0.02	B	.	.	1.000	N	1.04	L	1.94	T	-1.040	T	0.036	T	0.303	1.906	12.33	2.32	0.476	3.308	8.627	0.096	0.00527401067466	.	0.000199681	3.295e-05	0	0	0.0001	0	4.497e-05	0	0	3.23e-05	5	154602	rs200085015	8.893e-06	8.893e-06	9.528e-06	8.25e-06	0.0001	4.96e-06	3.82e-06	4.907e-05	3.165e-05	0	0	0	0.0001	1.872e-05	0	6.295e-06	0	0	1.97e-05	1.968e-05	2.57e-05	1.343e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.394e-05	0	0	0	0	0.0006	0	0	0	0	0	0.017	0.51248	D	0.014	0.63918	D	0.262	0.31549	B	0.02	0.19048	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	1.94	0.22678	T	-0.63	0.18459	N	0.21	0.31365	-1.0401	0.17283	T	0.036	0.15334	T	9	0.07636428	0.11921	T	0.005274	0.13464	T	0.096	0.27654	.	.	0.0551355673512	0.04727	0.49940357649739414	0.54597	0.0812789107097	0.09142	0.275446951389	0.06866	T	0.102201	0.40969	T	-0.362671	0.03981	T	-0.533027	0.18985	T	0.065338795309652	0.07982	T	0.80342	0.45053	T	0.08088861	0.18559	0.0576278	0.10508	0.08088861	0.18559	0.0576278	0.10508	-3.268	0.13328	T	.	.	0.075	0.10062	B	.;.	.;.	1.691711	0.21554	15.25	0.97712105836762653	0.35501	0.28539	0.23582	N	AEFBCI	0.168316	0.29506	N	-0.737676064092813	0.14970	0.7503569	-0.753588153150451	0.15635	0.8232357	0.825661293152152	0.24602	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.26	2.32	0.27895	2.057000	0.40991	1.448000	0.26583	-1.575000	0.00928	0.978000	0.35038	0.003000	0.18671	0.000000	0.00833	0.0:0.2442:0.7558:0.0	8.627	0.33056	862	0.33134	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1153.98	34	chr11	18231579	.	C	T	1153.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.994;DP=828;ExcessHet=0.0000;FS=9.152;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=1.04;SOR=1.221	GT:AD:DP:GQ:PL	0/1:61,48:109:99:1168,0,1431	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	0/3:9,0,0,13:22:99:140,167,304,167,304,304,0,138,138,101	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	0/3:9,0,0,13:22:99:140,167,304,167,304,304,0,138,138,101	0	0	0	0
chr11	33085953	33085953	G	A	exonic	CSTF3	.	nonsynonymous SNV	CSTF3:NM_001326:exon19:c.C1832T:p.P611L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.874	P	0.828	P	0.000	D	1.000	D	2.615	M	.	.	-0.107	T	0.505	D	0.656	5.013	29.5	6.03	2.861	9.675	20.557	0.486	0.0396852524191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.326e-05	6.43e-05	1.157e-05	1.503e-05	6.053e-05	8.29e-06	6.84e-06	2.012e-05	1.152e-05	0	3.446e-05	4.916e-05	0	0	0	1.035e-05	1.79e-05	6.053e-05	6.62e-06	1.317e-05	1.292e-05	0	2.439e-05	0	0	.	.	2.439e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.004	0.74150	D	0.874	0.48047	P	0.828	0.59497	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.365	0.68172	M	.	.	.	-7.33	0.94566	D	0.652	0.66272	-0.1073	0.79931	T	0.505	0.81344	D	8	0.95427924	0.94780	D	0.039685	0.58951	D	0.486	0.77464	0.873	0.96477	0.54507417769	0.54161	0.684483676958743	0.68387	1.74875396502	0.90984	0.900665163994	0.96514	D	0.370097	0.73469	T	0.196326	0.73549	D	0.0442322	0.73204	D	0.996447443962097	0.89358	D	0.967803	0.88985	D	0.7057624	0.78373	0.7466418	0.85024	0.7057624	0.78374	0.7466418	0.85025	-9.063	0.68102	D	.	.	0.945	0.86433	P	.;.	.;.	5.400781	0.90444	31	0.99879928330334211	0.95653	0.99474	0.96475	D	AEFBI	0.884655	0.81451	D	0.869130109929946	0.90168	10.28302	0.885875043347139	0.94926	13.16032	0.999999999979658	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	9.806000	0.98257	11.894000	0.99172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.557	0.99307	537	0.73184	Suppressor of forked;.	.	.	.	.	.	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	0.4167	1267.41	50	chr11	33085953	.	G	A	1267.41	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.118e+00;DP=1212;ExcessHet=1.1607;FS=252.446;InbreedingCoeff=-0.4237;MLEAC=9;MLEAF=0.750;MQ=60.00;MQRankSum=0.00;QD=3.22;ReadPosRankSum=1.37;SOR=9.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,15:75:99:0|1:33085952_T_C:158,0,2111:33085952	1	0	5	15
chr11	34090548	34090548	C	G	exonic	CAPRIN1	.	nonsynonymous SNV	CAPRIN1:NM_005898:exon14:c.C1424G:p.T475R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.491	P	0.243	B	0.241	N	1.000	D	1.04	L	1.85	T	-1.099	T	0.063	T	0.242	6.256	37	5.72	2.689	7.133	19.873	0.056	0.00995964189481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.11015	T	0.327	0.30045	T	0.491	0.36960	P	0.243	0.38752	B	0.241256	0.15707	N	0.685359	0.999993	0.58761	D	1.245	0.31408	L	1.85	0.24472	T	-0.99	0.28290	N	0.3	0.41656	-1.0989	0.04227	T	0.063	0.26244	T	10	0.18405288	0.33761	T	0.00996	0.25923	T	0.056	0.15993	0.203	0.11797	0.291402777868	0.28757	0.24332834004804382	0.24246	0.2740472631	0.29904	0.459105819464	0.33187	T	0.093359	0.39194	T	-0.153217	0.27810	T	-0.457862	0.26832	T	0.761967301368713	0.43964	D	0.809719	0.46038	T	0.10405012	0.24596	0.13933164	0.33247	0.10405012	0.24596	0.13933164	0.33246	-5.292	0.39864	T	.	.	0.181	0.44293	B	.;.;.;.;.	.;.;.;.;.	4.736387	0.76341	26.5	0.9960992126058259	0.74753	0.99807	0.99597	D	AEFGBI	0.940355	0.94219	D	0.243806376163049	0.53334	3.502668	0.408890721361947	0.62118	4.421977	0.999999991912218	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	7.321000	0.78359	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.873	0.96856	366	0.84579	Cytoplasmic activation/proliferation-associated protein-1 C term;.;Cytoplasmic activation/proliferation-associated protein-1 C term;.;Cytoplasmic activation/proliferation-associated protein-1 C term	.	.	.	.	.	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	1879.98	33	chr11	34090548	.	C	G	1879.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.80;DP=857;ExcessHet=0.0000;FS=3.862;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=-2.240e-01;SOR=1.033	GT:AD:DP:GQ:PL	0/1:80,70:150:99:1894,0,1907	20	0	1	0
chr11	36592939	36592939	C	G	exonic	RAG2	.	nonsynonymous SNV	RAG2:NM_000536:exon2:c.G1230C:p.E410D	Combined cellular and humoral immune defects with granulomas, Autosomal recessive;Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, B cell-negative, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.989	D	0.977	D	0.000	D	1.000	D	2.725	M	-4.39	D	0.981	D	0.932	D	0.635	2.778	15.25	-0.634	0.034	0.389	10.518	0.724	0.184111845529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.989	0.62824	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.997921	0.44325	D	3.045	0.86684	M	-4.39	0.97394	D	-1.34	0.33401	N	0.61	0.62696	0.981	0.96875	D	0.932	0.97744	D	10	0.74751085	0.75395	D	0.184112	0.85729	D	0.724	0.90280	0.655	0.79276	0.949606292796	0.94907	0.5783541702396763	0.57764	0.416349650705	0.42283	0.691780388355	0.65962	T	0.535211	0.83987	D	0.262356	0.79746	D	0.13908	0.79483	D	0.982266187667847	0.74389	D	0.935806	0.75965	D	0.4970505	0.66921	0.42633614	0.66414	0.4970505	0.66922	0.42633614	0.66414	-3.527	0.16812	T	0.4996836790850691	0.57511	0.344	0.59611	A	.;.	.;.	2.759110	0.36189	20.2	0.99754016305850435	0.84460	0.84979	0.44077	D	AEFBI	0.598256	0.59172	D	0.347464662238875	0.58605	4.033851	0.215856993075376	0.50725	3.261712	0.99959847292894	0.40745	0.497415	0.19182	0	0.59043	0.45803	0	0.408882	0.06424	0	0.530356	0.10902	0	.	.	5.23	-0.634	0.10937	0.385000	0.20413	-0.476000	0.08948	0.599000	0.40250	0.997000	0.40164	0.036000	0.21445	1.000000	0.97212	0.0:0.5159:0.0:0.4841	10.518	0.44088	374	0.84073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.08333	296.49	93	chr11	36592939	.	C	G	296.49	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-4.408e+00;DP=2340;ExcessHet=0.1072;FS=326.387;InbreedingCoeff=-0.2035;MLEAC=3;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=1.37;SOR=8.764	GT:AD:DP:GQ:PL	0/1:131,25:173:86:86,0,3017	10	0	2	9
chr11	46548338	46548338	C	T	exonic	AMBRA1	.	nonsynonymous SNV	AMBRA1:NM_001267782:exon2:c.G43A:p.G15R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.956	D	0.000	D	1.000	D	0.2	N	-0.14	T	-0.213	T	0.365	T	0.918	3.775	19.16	5.94	2.807	4.295	20.359	0.533	0.0608897624891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.63226	D	0.005	0.92824	D	0.996	0.77913	D	0.936	0.69739	D	0.000000	0.84330	D	0.043500	0.999836	0.54805	D	-0.08	0.04796	N	-0.33	0.70249	T	-2.99	0.96495	D	0.709	0.71232	-0.2128	0.77340	T	0.365	0.72568	T	10	0.5353286	0.63414	D	0.06089	0.68153	D	0.533	0.80367	0.642	0.77903	0.80038695507	0.79852	0.7213171454639603	0.72075	1.58527486452	0.88454	0.796592354774	0.81444	T	0.077445	0.88462	T	0.302866	0.83196	D	0.19727	0.82979	D	0.983927190303802	0.75413	D	0.949205	0.80472	D	0.4651973	0.64994	0.37261048	0.62466	0.4651973	0.64995	0.37261048	0.62466	-4.567	0.31754	T	.	.	0.635	0.76099	P	.;.;.;.;.;.	.;.;.;.;.;.	4.717908	0.75853	26.4	0.99759737126182424	0.84931	0.93292	0.57827	D	AEFBI	0.472825	0.51777	N	0.556703825618376	0.70492	5.509313	0.630853582485066	0.77193	6.632216	0.999999489494246	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.94	5.94	0.96165	4.355000	0.59199	7.660000	0.64180	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.359	0.98850	0	0.99858	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	1991.98	34	chr11	46548338	.	C	T	1991.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.205;DP=829;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=1.45;SOR=0.699	GT:AD:DP:GQ:PL	0/1:66,78:144:99:2006,0,1686	20	0	1	0
chr11	47682040	47682040	C	T	exonic	AGBL2	.	nonsynonymous SNV	AGBL2:NM_024783:exon12:c.G1844A:p.R615Q,	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.993	D	0.000	D	1.000	D	3.955	H	1.47	T	-0.072	T	0.330	T	0.972	3.349	17.28	5.47	2.573	7.408	19.333	0.694	0.161701515949	.	.	.	.	.	.	.	.	.	.	.	.	.	rs964360244	6.841e-06	6.84e-06	6.806e-06	6.876e-06	1.159e-05	3.46e-06	2.52e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	4.967e-05	1.159e-05	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.994	0.77913	D	0.973	0.75793	D	0.000000	0.84330	D	0.000000	0.999943	0.51968	D	4.385	0.98597	H	1.47	0.31987	T	-3.83	0.72120	D	0.965	0.97643	-0.0720	0.80734	T	0.330	0.69741	T	10	0.893996	0.88749	D	0.161702	0.84144	D	0.694	0.88913	.	.	0.704500368519	0.70193	0.9495623881981353	0.94939	0.565556334051	0.52891	0.701879858971	0.67416	T	0.464011	0.79974	T	0.282531	0.81532	D	0.16806	0.81294	D	0.999870300292969	0.99471	D	.	.	.	0.7524054	0.81008	0.682361	0.81330	0.7524054	0.81010	0.682361	0.81331	-11.072	0.80051	D	.	.	0.913	0.83637	P	.;.;.	.;.;.	5.311047	0.89155	29.9	0.99263534102549966	0.57289	0.97696	0.76478	D	AEFBI	0.874667	0.79766	D	0.864275392235559	0.89906	10.16809	0.726629071947378	0.84399	8.281502	0.999999999997429	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.47	5.47	0.80345	7.547000	0.81094	7.600000	0.61533	0.568000	0.28809	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	19.333	0.94287	11	0.98996	.;.;.	.	.	.	.	.	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	1045.98	35	chr11	47682040	.	C	T	1045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.580e-01;DP=797;ExcessHet=0.0000;FS=1.530;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.34;ReadPosRankSum=-1.173e+00;SOR=0.890	GT:AD:DP:GQ:PL	0/1:64,48:112:99:1060,0,1545	20	0	1	0
chr11	55638461	55638461	C	T	exonic	OR4P4	.	nonsynonymous SNV	OR4P4:NM_001004124:exon1:c.C104T:p.A35V,	.	.	557	963	2	0	0	2	0.00103734	.	.	2763608	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.054	B	0.082	B	0.023	N	1.000	N	0.42	N	8.55	T	-0.969	T	0.000	T	0.093	0.693	7.701	0.678	0.504	-0.284	4.652	0.034	0.00162862679163	8.1e-05	.	0.0003	0	0	0.0001	0	3.271e-05	0.0038	0.0017	0.000207	32	154602	rs371576683	0.0002	0.0001	0.0001	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	2.708e-05	0	8.713e-05	0	0.0010	1.679e-05	0.0001	0.0021	5.812e-05	5.614e-05	0	0.0001	0.0017	2.795e-05	2.102e-05	0.0008	0.0006	0	0	0	0	0	0	0	1.611e-05	0	0.0017	0.326	0.13306	T	0.536	0.09897	T	0.054	0.22658	B	0.082	0.29098	B	0.023325	0.26463	N	0.183295	1	0.08975	N	-0.01	0.05129	N	8.55	0.00189	T	-1.45	0.35597	N	0.083	0.05929	-0.9690	0.37407	T	0.000	0.00075	T	10	0.008223385	0.00187	T	0.001629	0.02651	T	0.034	0.08419	.	.	0.137902524267	0.13322	0.05217044861045167	0.05159	0.0201724654036	0.01977	0.20047198236	0.00471	T	0.004888	0.04311	T	-0.567426	0.00229	T	-0.768131	0.02830	T	0.0168446132127247	0.00438	T	0.687731	0.29668	T	0.048258316	0.08383	0.039658137	0.04108	0.048258316	0.08383	0.039658137	0.04108	-2.187	0.03978	T	.	.	0.117	0.24666	B	.;.	.;.	0.235757	0.06164	2.613	0.95358136655979897	0.26752	0.00196	0.01131	N	AEFI	0.020739	0.00849	N	-1.08070441948049	0.06998	0.3238466	-1.06341315249226	0.08429	0.4144384	1.91348358636724E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.02	0.678	0.17136	-1.004000	0.03789	-12.043000	0.00555	0.522000	0.23927	0.000000	0.06391	0.000000	0.08366	0.734000	0.35233	0.0:0.3824:0.3657:0.2518	4.652	0.11986	151	0.94052	.;.	.	.	.	.	.	Uncertain significance	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	3692.8	35	chr11	55638461	.	C	T	3692.8	.	AC=2;AF=0.050;AN=40;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.050;MQ=60.00;QD=31.83;SOR=1.188	GT:AD:DP:GQ:PL	1/1:0,116:116:99:3720,348,0	19	1	0	1
chr11	55773543	55773543	G	A	exonic	OR5D13	.	nonsynonymous SNV	OR5D13:NM_001001967:exon1:c.G106A:p.V36I,	.	.	435	991	89	7	0	103	0.0494005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.001	B	0.860	N	1.000	N	-0.37	N	7.44	T	-0.999	T	0.000	T	0.023	-1.392	0.024	-4.35	-0.957	-1.802	4.036	0.004	.	0.0094	0.0071885	0.0094	0.0038	0.0055	0.0002	0.0029	0.0124	0.0165	0.0105	0.0093078	1439	154602	rs147031394	0.0096	0.0096	0.0093	0.0099	0.0541	0.0095	0.0094	0.0492	0.0472	0.0040	0.0080	0.0194	2.52e-05	0.0024	0.0541	0.0099	0.0116	0.0108	0.0090	0.0090	0.0092	0.0087	0.0143	0.0086	0.0084	0.0128	0.0122	0.0041	0	0.0143	0.0214	0.0002	0.0018	0.0408	0.0115	0.0133	0.0123	.	.	.	.	.	.	0.002	0.09854	B	0.001	0.04355	B	0.859837	0.08903	N	0.894418	1	0.08975	N	-1.24	0.00794	N	.	.	.	.	.	.	.	.	-0.9992	0.30143	T	0.000	0.00075	T	10	0.0063220263	0.00143	T	.	.	.	.	.	.	.	.	.	0.026461992922624716	0.02596	.	.	0.204620480537	0.00603	T	9.57E-4	0.00501	T	-0.821085	0.00005	T	-0.94182	0.00289	T	0.00201569703242085	0.00021	T	0.758424	0.38228	T	0.03243204	0.03267	0.031081052	0.01648	0.03243204	0.03267	0.031081052	0.01647	-1.204	0.01256	T	.	.	0.070	0.03625	B	.	.	-1.707520	0.00192	0.003	0.086283404533563965	0.00071	0.00206	0.01180	N	AEFI	0.014591	0.00239	N	-1.7650134367774	0.00637	0.02745338	-1.79490174311532	0.00776	0.03459685	1.58383268683026E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.52	-4.35	0.03402	-2.708000	0.00890	-10.712000	0.00673	-2.110000	0.00390	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3984:0.0:0.342:0.2596	4.036	0.09214	154	0.93967	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1916.98	33	chr11	55773543	.	G	A	1916.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=997;ExcessHet=0.0000;FS=0.557;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=-8.930e-01;SOR=0.645	GT:AD:DP:GQ:PL	0/1:98,79:177:99:1931,0,2403	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|2:250,0,65:315:99:0|1:56375918_A_G:1977,2729,13227,0,10497,10302:56375918	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|2:250,0,65:315:99:0|1:56375918_A_G:1977,2729,13227,0,10497,10302:56375918	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|2:250,0,65:315:99:0|1:56375918_A_G:1977,2729,13227,0,10497,10302:56375918	1	0	3	1
chr11	56412815	56412815	A	G	exonic	OR5AL1	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	2.545e-05	2.475e-05	3.211e-05	0.0001	1.283e-05	8.6e-06	5.06e-06	2.4e-06	0.0001	0	0	0	0	0	1.902e-05	0.0002	0	6.573e-06	6.566e-06	1.286e-05	0	2.407e-05	0	0	.	.	2.407e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	330.15	47	chr11	56412815	.	A	G	330.15	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.272e+00;DP=1901;ExcessHet=0.6776;FS=88.232;InbreedingCoeff=-0.1093;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.58;ReadPosRankSum=1.46;SOR=10.239	GT:AD:DP:GQ:PL	0/1:114,23:137:99:133,0,3003	17	0	4	0
chr11	58837306	58837306	T	C	exonic	GLYATL2	.	nonsynonymous SNV	GLYATL2:NM_145016:exon4:c.A278G:p.N93S,	.	.	427	1067	28	0	0	28	0.012951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.001	B	0.002	B	0.942	U	1.000	N	-0.205	N	2.52	T	-0.976	T	0.017	T	0.021	0.669	7.585	1.89	0.518	0.371	5.359	0.026	.	0.0007	0.00319489	0.0024	0.0003	0.0008	0.0003	0	0.0007	0.0033	0.0133	0.002044	316	154602	rs186195231	0.0012	0.0012	0.0008	0.0015	0.0133	0.0011	0.0011	0.0126	0.0124	0.0002	0.0006	0	0.0001	0	0.0061	0.0004	0.0014	0.0133	0.0007	0.0007	0.0005	0.0009	0.0126	0.0006	0.0006	0.0101	0.0092	0.0001	0	0.0007	0	0.0004	0	0.0068	0.0004	0.0014	0.0126	0.095	0.31235	T	0.121	0.35840	T	0.001	0.07471	B	0.002	0.06944	B	0.942420	0.07603	U	1.033050	1	0.08975	N	0	0.06538	N	2.52	0.14160	T	-0.27	0.11366	N	0.062	0.03392	-0.9756	0.35993	T	0.017	0.06902	T	10	0.012931883	0.00276	T	.	.	.	0.026	0.05648	.	.	0.132336055621	0.12781	0.021798170451970585	0.02131	0.0168934357688	0.01633	0.388762056828	0.23495	T	0.002413	0.01807	T	-0.752183	0.00017	T	-0.842204	0.01066	T	0.0016191286783392	0.00016	T	0.217978	0.02763	T	0.03282311	0.03380	0.031459212	0.01737	0.03282311	0.03380	0.031459212	0.01736	-4.298	0.28149	T	.	.	0.077	0.06387	B	.;.	.;.	0.427752	0.07980	4.696	0.65255321531117527	0.07721	0.01376	0.04691	N	AEFI	0.032290	0.03615	N	-1.02161200229743	0.08156	0.3814431	-1.01167758746855	0.09528	0.4745404	2.21359125071699E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.24	1.89	0.24700	0.342000	0.19669	0.122000	0.14930	-0.132000	0.13132	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2367:0.0:0.7633	5.359	0.15379	624	0.65661	Glycine N-acyltransferase, N-terminal;Glycine N-acyltransferase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2037.98	37	chr11	58837306	.	T	C	2037.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.778;DP=893;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=0.259;SOR=0.655	GT:AD:DP:GQ:PL	0/1:83,76:159:99:2052,0,2182	20	0	1	0
chr11	61485822	61485822	G	A	exonic	PPP1R32	.	nonsynonymous SNV	PPP1R32:NM_001170753:exon7:c.G598A:p.G200S	.	.	428	1047	45	2	0	49	0.0228651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.003	N	0.987	D	2.455	M	-1.09	T	0.156	D	0.618	D	0.515	2.342	13.79	2.89	0.430	3.650	8.123	0.354	.	0.0009	0.00379393	0.0030	0.0003	0.0004	0	0	0.0015	0.0067	0.0152	0.0027619	427	154602	rs148713373	0.0020	0.0020	0.0015	0.0024	0.0135	0.0019	0.0019	0.0128	0.0126	0.0001	0.0004	3.827e-05	5.038e-05	0.0003	0.0069	0.0013	0.0022	0.0135	0.0014	0.0014	0.0013	0.0015	0.0147	0.0013	0.0012	0.0120	0.0109	0.0003	0	0.0005	0	0	0	0.0136	0.0017	0.0009	0.0147	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.002855	0.35836	N	0.186440	0.978287	0.25258	N	2.595	0.75868	M	-1.47	0.81067	T	-5.48	0.87911	D	0.703	0.70702	0.156	0.85156	D	0.618	0.86522	D	10	0.013056129	0.00278	T	.	.	.	0.354	0.67510	.	.	0.810444014665	0.80866	0.6798814247831744	0.67927	0.545662942525	0.51589	0.390948414803	0.23803	T	0.104356	0.41385	T	-0.23495	0.15999	T	-0.0985893	0.63507	T	0.111709246670083	0.13599	T	0.715028	0.32735	T	0.46056592	0.64706	0.2949798	0.55529	0.46056592	0.64706	0.2949798	0.55528	-5.413	0.42185	T	.	.	0.252	0.48675	B	.;.	.;.	3.542621	0.49765	22.8	0.99553873550035676	0.71335	0.68348	0.33768	D	AEFDBI	0.246586	0.36732	N	0.172046429641322	0.49859	3.181819	-0.0262660328570878	0.38532	2.271525	0.936981157563197	0.27277	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.77	2.89	0.32713	3.710000	0.54589	6.635000	0.56164	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.087000	0.17632	0.1922:0.0:0.8078:0.0	8.123	0.30142	716	0.55970	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	629.98	36	chr11	61485822	.	G	A	629.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.492;DP=770;ExcessHet=0.0000;FS=3.582;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=0.00;SOR=0.639	GT:AD:DP:GQ:PL	0/1:33,26:59:99:644,0,826	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|1:71,35:106:99:0|1:61740527_G_C:466,0,1895:61740527	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|1:71,35:106:99:0|1:61740527_G_C:466,0,1895:61740527	0	0	21	0
chr11	63143643	63143643	C	G	exonic	SLC22A24	.	nonsynonymous SNV	SLC22A24:NM_001136506:exon1:c.G137C:p.S46T	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.354	B	0.119	B	0.589	U	1.000	N	1.15	L	1.21	T	-1.037	T	0.053	T	0.092	0.509	6.759	-0.762	-0.070	-2.493	3.184	0.003	0.00315125852632	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1462387106	1.867e-05	2.052e-05	2.063e-05	1.669e-05	0.0003	1.279e-05	1.096e-05	6.141e-05	2.539e-05	0	0	0	0	0	0.0003	1.901e-05	5.022e-05	1.197e-05	1.315e-05	1.313e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.014	0.53172	D	0.17	0.30631	T	0.354	0.33710	B	0.119	0.32162	B	0.588987	0.11068	U	0.790897	1	0.08975	N	.	.	.	1.21	0.37230	T	-1.72	0.42575	N	0.137	0.13484	-1.0372	0.18171	T	0.053	0.22462	T	10	0.17496333	0.32404	T	0.003151	0.06876	T	0.003	0.00094	0.377	0.39156	0.0551355673512	0.04727	0.12641937707937456	0.12567	0.00684574193027	0.00603	0.271658301353	0.06359	T	.	.	.	-0.318555	0.07017	T	-0.695358	0.06083	T	0.0580993480980396	0.06867	T	0.169883	0.01597	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.18372	B	.;.;.	.;.;.	0.052928	0.04660	1.312	0.95888013715457043	0.28095	0.00324	0.01698	N	AEFBI	0.017108	0.00427	N	-0.928802920198126	0.10172	0.4848603	-1.04168233912934	0.08880	0.4388902	0.0147972677657172	0.12639	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.29	-0.762	0.10478	-2.601000	0.00966	-12.537000	0.00518	-0.504000	0.05013	0.000000	0.06391	0.000000	0.08366	0.227000	0.22653	0.0:0.2829:0.231:0.486	3.184	0.06202	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	1	0	0	0	0.02381	2243.98	42	chr11	63143643	.	C	G	2243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.541e+00;DP=991;ExcessHet=0.0000;FS=1.239;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.77;ReadPosRankSum=-3.700e-02;SOR=0.595	GT:AD:DP:GQ:PL	0/1:69,94:163:99:2258,0,1830	20	0	1	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	0/1:66,16:88:14:14,0,1335	11	0	3	7
chr11	63764320	63764320	G	A	exonic	C11orf95	.	nonsynonymous SNV	C11orf95:NM_001144936:exon4:c.C1303T:p.R435C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1477857713	5.688e-06	5.199e-05	3.188e-06	8.288e-06	0.0003	2.37e-06	1.52e-06	9.3e-07	6.3e-07	0	0	0	0	0	0.0003	3.978e-06	4.016e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.64786	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	.	.	.	2.215	0.62545	M	.	.	.	.	.	.	0.38	0.42149	.	.	.	.	.	.	.	0.3972689	0.55316	T	.	.	.	.	.	.	.	0.378322506985	0.37446	0.4548146607424411	0.45399	.	.	.	.	.	0.13145	0.46095	T	0.364855	0.87618	D	0.286312	0.87458	D	.	.	.	0.873313	0.58144	D	0.30445883	0.53302	0.3504326	0.60653	0.30445883	0.53302	0.3504326	0.60652	-7.653	0.58680	D	.	.	0.210	0.43721	B	.	.	5.525453	0.91821	32	0.97879679298808198	0.36594	0.87195	0.46661	D	AEFDBCIJ	.	.	.	.	.	.	.	.	.	0.999999999994263	0.74766	0.075627	0.01787	0	0.097471	0.02872	0	0.04985	0.00251	1	0.089868	0.02511	0	0.968886	0.71240	4.25	4.25	0.49658	8.920000	0.92358	8.475000	0.77283	0.582000	0.30178	0.998000	0.41325	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	14.518	0.67418	561	0.71236	.	.	.	.	.	.	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	703.98	18	chr11	63764320	.	G	A	703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.159e+00;DP=603;ExcessHet=0.0000;FS=1.145;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.37;ReadPosRankSum=-5.650e-01;SOR=1.017	GT:AD:DP:GQ:PL	0/1:19,30:49:99:718,0,448	20	0	1	0
chr11	64905831	64905831	G	C	exonic	ATG2A	.	nonsynonymous SNV	ATG2A:NM_001367971:exon23:c.C3258G:p.D1086E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.873	P	0.000	D	0.838	D	2.25	M	2.8	T	-0.187	T	0.310	T	0.579	2.359	13.85	-9.74	-2.511	-1.223	19.069	0.309	0.0200097966736	.	.	4.164e-05	0	0	0	0	1.519e-05	0	0.0002	3.23e-05	5	154602	rs746493893	1.369e-05	1.436e-05	8.171e-06	1.926e-05	0.0002	8.94e-06	7.27e-06	8.885e-05	7.053e-05	0	0	0	0	0	0	4.496e-06	3.312e-05	0.0002	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	0.007	0.59928	D	0.011	0.64786	D	0.998	0.73220	D	0.873	0.61978	P	0.000000	0.84330	D	0.000000	0.837558	0.35014	D	2	0.54354	M	2.79	0.11189	T	-3.18	0.64478	D	0.327	0.36779	-0.1871	0.78001	T	0.310	0.68012	T	10	0.21316683	0.37800	T	0.02001	0.42512	T	0.309	0.63055	0.425	0.47021	0.110392049598	0.10638	0.5941210682698207	0.59342	0.498287774507	0.48305	0.591419935226	0.51694	T	0.27282	0.64523	T	-0.363091	0.03958	T	-0.467183	0.25821	T	0.621918261051178	0.37284	D	0.819518	0.47762	T	0.3357326	0.55938	0.28395772	0.54391	0.3357326	0.55938	0.28395772	0.54390	-9.838	0.72936	D	.	.	0.521	0.65537	A	.	.	0.270205	0.06479	2.956	0.95585351828917031	0.27299	0.15013	0.18700	N	AEFDGBCI	0.172139	0.29915	N	-1.42651203502031	0.02408	0.1062886	-1.65949390910248	0.01327	0.05990846	0.998444790347566	0.36977	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.87	-9.74	0.00425	-1.367000	0.02689	-2.902000	0.03246	-3.229000	0.00107	0.002000	0.15269	0.000000	0.08366	0.204000	0.22012	0.3733:0.0:0.6267:0.0	19.069	0.93109	284	0.88763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	854.98	33	chr11	64905831	.	G	C	854.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=767;ExcessHet=0.0000;FS=2.021;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=-3.340e-01;SOR=0.473	GT:AD:DP:GQ:PL	0/1:31,35:66:99:869,0,695	20	0	1	0
chr11	65356262	65356262	C	G	exonic	TIGD3	.	nonsynonymous SNV	TIGD3:NM_145719:exon2:c.C454G:p.P152A,	.	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.0	B	0.001	B	0.318	N	1.000	N	0.345	N	2.66	T	-0.938	T	0.015	T	0.195	-2.461	0.003	1.59	0.310	0.519	4.749	0.035	0.00330746818498	0.0002	0.000798722	0.0004	0.0001	0.0003	0	0	0.0004	0.0011	0.0009	0.0004075	63	154602	rs147453408	0.0003	0.0003	0.0002	0.0003	0.0035	0.0002	0.0002	0.0023	0.0019	5.974e-05	0.0004	0	0	1.913e-05	0.0035	0.0002	0.0005	0.0007	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	2.405e-05	0	0.0005	0	0	0	0.0034	0.0002	0.0009	0.0004	0.742	0.03674	T	0.328	0.18675	T	0.0	0.02946	B	0.001	0.04355	B	0.317818	0.14323	N	0.520751	1	0.08975	N	0.975	0.24501	L	2.66	0.12575	T	1.22	0.01051	N	0.17	0.18103	-0.9375	0.43010	T	0.015	0.06282	T	10	0.008637041	0.00196	T	0.003307	0.07359	T	0.035	0.08770	.	.	0.278143212241	0.27437	0.7605552706940572	0.76003	0.362202545277	0.37875	0.447788566351	0.31642	T	0.003957	0.03363	T	-0.586257	0.00177	T	-0.712301	0.05178	T	0.0135737877304247	0.00250	T	0.424958	0.11391	T	0.019165764	0.00443	0.045275193	0.06056	0.019165764	0.00442	0.045275193	0.06056	-3.836	0.21343	T	.	.	0.051	0.00183	B	.	.	-0.477143	0.01941	0.165	0.70808766448523419	0.09418	0.02023	0.06073	N	AEFDBI	0.053415	0.09624	N	-1.08689517288357	0.06883	0.3181822	-1.07777197400331	0.08139	0.3988703	0.992817721790232	0.32978	0.59774	0.34471	0	0.588066	0.40923	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.57	1.59	0.22622	-0.037000	0.12116	0.776000	0.21438	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.6328:0.2374:0.1299	4.749	0.12425	312	0.87382	.	.	.	.	.	.	Uncertain significance	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	4325.11	33	chr11	65356262	.	C	G	4325.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.22;DP=1020;ExcessHet=0.1072;FS=2.830;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=-2.950e-01;SOR=0.617	GT:AD:DP:GQ:PL	0/1:85,72:157:99:1888,0,2239	19	0	2	0
chr11	65557857	65557857	-	CAGCAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.102_103insCTGCTG:p.L35_G36insLL	Dental anomalies and short stature, Autosomal recessive	.	0	120	30	0	76	106	0.111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	4305.49	23	chr11	65557854	.	CCAG	C,CCAGCAGCAG,CCAGCAG	4305.49	.	AC=4,6,1;AF=0.095,0.143,0.024;AN=42;BaseQRankSum=0.216;DP=999;ExcessHet=7.7275;FS=5.450;InbreedingCoeff=-0.3548;MLEAC=4,6,1;MLEAF=0.095,0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-5.530e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/1:32,6,0,0:38:99:154,0,1291,250,1310,1560,250,1310,1560,1560	10	0	4	0
chr11	65557857	65557857	-	CAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.102_103insCTG:p.L35_G36insL	Dental anomalies and short stature, Autosomal recessive	.	0	120	30	0	76	106	0.111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	4305.49	23	chr11	65557854	.	CCAG	C,CCAGCAGCAG,CCAGCAG	4305.49	.	AC=4,6,1;AF=0.095,0.143,0.024;AN=42;BaseQRankSum=0.216;DP=999;ExcessHet=7.7275;FS=5.450;InbreedingCoeff=-0.3548;MLEAC=4,6,1;MLEAF=0.095,0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-5.530e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/1:32,6,0,0:38:99:154,0,1291,250,1310,1560,250,1310,1560,1560	10	0	4	0
chr11	65618830	65618830	C	T	exonic	PCNX3	.	nonsynonymous SNV	PCNX3:NM_032223:exon6:c.C1468T:p.R490W,	.	.	426	1083	12	1	0	14	0.00642202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.99	D	0.002	N	0.998	D	1.04	L	5.19	T	-0.789	T	0.010	T	0.605	4.042	20.7	4.47	1.259	2.174	11.451	0.105	0.0761287405604	0.0010	.	0.0010	0.0001	0.0016	0	0.0002	0.0015	0	6.619e-05	0.0008279	128	154602	rs201927806	0.0007	0.0007	0.0007	0.0007	0.0156	0.0007	0.0006	0.0130	0.0120	0.0003	0.0019	0.0088	0	7.729e-05	0.0156	0.0004	0.0014	0.0004	0.0007	0.0007	0.0009	0.0006	0.0010	0.0006	0.0006	0.0006	0.0005	0.0002	0	0.0010	0.0098	0	9.418e-05	0.0068	0.0007	0.0009	0.0002	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.99	0.78936	D	0.001913	0.37691	N	0.000000	0.997859	0.44256	D	1.83	0.48079	L	5.19	0.01172	T	-4.08	0.74742	D	0.6	0.61849	-0.7895	0.55759	T	0.010	0.03582	T	10	0.009886563	0.00222	T	0.076129	0.72457	D	0.105	0.29889	.	.	0.742584921238	0.74027	0.41495139940288245	0.41411	.	.	0.836011052132	0.87485	D	0.232789	0.59944	T	-0.383761	0.02949	T	-0.343037	0.40000	T	0.0393116335762621	0.03566	T	0.930507	0.74278	D	0.25654945	0.48695	0.23615758	0.48879	0.25654945	0.48695	0.23615758	0.48878	-7.434	0.57144	T	.	.	0.328	0.55067	B	.	.	4.692846	0.75215	26.3	0.99921986584898226	0.98787	0.94168	0.60319	D	AEFBI	0.542318	0.55811	D	0.424470851088155	0.62770	4.498624	0.420732845723803	0.62857	4.508573	0.999999998380628	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	4.47	0.53770	1.514000	0.35441	2.385000	0.32508	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.18:0.8199:0.0:0.0	11.451	0.49394	275	0.89190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1461.98	41	chr11	65618830	.	C	T	1461.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.000e-01;DP=893;ExcessHet=0.0000;FS=4.287;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=-7.230e-01;SOR=1.090	GT:AD:DP:GQ:PL	0/1:67,61:128:99:1476,0,1700	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	0/1:30,27,0,0:57:99:1020,0,1176,1110,1257,2368,1110,1257,2368,2368	5	4	8	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.001	B	0.006	B	0.000	D	1.000	D	0.6	N	-1.49	T	-0.718	T	0.281	T	0.218	1.574	11.22	5.54	2.603	6.822	12.661	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3	1346.63	65	chr11	66863811	.	C	T	1346.63	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-4.038e+00;DP=2406;ExcessHet=9.6308;FS=147.397;InbreedingCoeff=-0.4216;MLEAC=12;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.76;SOR=12.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,38:121:99:.:.:263,0,1446	8	0	12	1
chr11	68312749	68312749	-	GCT	exonic	LRP5	.	nonframeshift insertion	LRP5:NM_002335:exon1:c.35_36insGCT:p.L20_A21insL,	Exudative vitreoretinopathy 4, Autosomal recessive, Autosomal dominant;Hyperostosis, endosteal, Autosomal dominant;Osteopetrosis, autosomal dominant 1, Autosomal dominant;Osteoporosis-pseudoglioma syndrome, Autosomal recessive;Osteosclerosis, Autosomal dominant;van Buchem disease, type 2, Autosomal dominant	.	26	179	10	6	5	27	0.0578947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	951.96	12	chr11	68312746	.	CGCT	CGCTGCT,C	951.96	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-8.330e-01;DP=282;ExcessHet=1.1607;FS=1.068;InbreedingCoeff=-0.1413;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=18.67;ReadPosRankSum=0.100;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:7,0,2:9:63:.:.:63,84,374,0,290,284	16	0	4	0
chr11	70103157	70103157	C	T	exonic	ANO1	.	nonsynonymous SNV	ANO1:NM_001378094:exon3:c.C533T:p.T178M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.998	D	0.000	D	1.000	D	0.955	L	-0.27	T	-0.452	T	0.359	T	0.805	3.425	17.58	5.27	2.474	7.103	17.917	0.357	0.0363570213742	0.0002	.	4.693e-05	0	0.0001	0	0	4.212e-05	0	8.269e-05	3.23e-05	5	154602	rs375072440	3.979e-05	4.104e-05	4.093e-05	3.864e-05	0.0003	3.122e-05	2.855e-05	6.094e-05	2.841e-05	0	4.517e-05	0	0	0	0.0003	4.144e-05	6.64e-05	4.696e-05	3.945e-05	4.594e-05	2.573e-05	5.379e-05	0.0004	1.716e-05	1.13e-05	6.842e-05	2.863e-05	2.411e-05	0	0	0	0.0004	0	0	4.411e-05	0	0	0.562	0.22224	T	0.304	0.31026	T	1.0	0.90584	D	0.996	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.24	0.30952	L	-0.27	0.67367	T	-3.41	0.74269	D	0.805	0.80964	-0.4519	0.70338	T	0.359	0.72116	T	9	0.7800008	0.77774	D	0.036357	0.56939	D	0.357	0.67782	.	.	0.457320397359	0.45357	0.556350770061099	0.55562	1.28113235318	0.82534	0.671795427799	0.63094	T	0.150714	0.49032	T	0.036503	0.56585	T	-0.00627043	0.69927	D	0.837269008159637	0.49106	D	0.953205	0.83579	D	0.21467215	0.43879	0.14770426	0.34944	0.21467215	0.43879	0.14770426	0.34943	-10.621	0.78823	D	.	.	0.431	0.79230	A	.;.;.	.;.;.	4.093997	0.60998	24.3	0.99862310811723443	0.94093	0.97989	0.78678	D	AEFBI	0.819306	0.74036	D	0.403764390361288	0.61629	4.366605	0.350222828852446	0.58519	4.023067	0.999999998921506	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.27	5.27	0.73797	7.144000	0.76943	7.587000	0.61135	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.027000	0.12703	0.0:1.0:0.0:0.0	17.917	0.88874	900	0.24599	Anoctamin, dimerisation 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	1307.98	56	chr11	70103157	.	C	T	1307.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.662;DP=1378;ExcessHet=0.0000;FS=1.402;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=0.270;SOR=0.831	GT:AD:DP:GQ:PL	0/1:74,59:133:99:1322,0,1664	20	0	1	0
chr11	73900372	73900372	T	A	exonic	PAAF1	.	nonsynonymous SNV	PAAF1:NM_001363556:exon4:c.T487A:p.S163T	.	.	424	1092	5	1	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.761	P	0.239	B	0.001	D	0.988	D	1.89	L	2.14	T	-0.479	T	0.331	T	0.584	4.143	21.4	5.75	2.185	4.126	14.866	0.226	0.0190002837301	.	0.000199681	2.477e-05	0	0	0	0	4.501e-05	0	0	2.59e-05	4	154602	rs187247600	4.793e-06	4.788e-06	2.726e-06	6.882e-06	0.0002	1.99e-06	1.28e-06	7.42e-06	2.78e-06	0	4.478e-05	0	0	0	0.0002	1.8e-06	0	2.324e-05	1.97e-05	1.969e-05	1.285e-05	2.685e-05	0.0001	5.24e-06	2.45e-06	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	1.47e-05	0	0	0.029	0.52492	D	0.187	0.47336	T	0.761	0.43566	P	0.239	0.38566	B	0.000506	0.43753	D	0.100132	0.98393	0.40696	D	1.5	0.37844	L	0.03	0.62183	T	-2.37	0.54059	N	0.6	0.61849	-0.4786	0.69418	T	0.331	0.69826	T	10	0.26846895	0.44366	T	0.019	0.41240	T	0.226	0.52472	.	.	0.704706922069	0.70214	0.3825191948252419	0.38166	0.452032423143	0.44933	0.609080433846	0.54185	T	0.018836	0.34467	T	-0.108636	0.34993	T	-0.217978	0.52931	T	0.290550600339551	0.24612	T	0.863614	0.87125	D	0.2648957	0.49558	0.2555062	0.51235	0.2648957	0.49557	0.2555062	0.51234	-10.11	0.80365	D	.	.	0.333	0.56455	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	3.413887	0.47373	22.4	0.99181934072603739	0.54701	0.92728	0.56401	D	AEFDBI	0.616495	0.60304	D	0.367628878767692	0.59675	4.14905	0.446031727616733	0.64461	4.701997	0.977683449496855	0.29845	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.75	5.75	0.90390	4.125000	0.57683	4.852000	0.45385	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.866	0.70055	233	0.90919	.;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;.;WD40-repeat-containing domain;.;.;WD40-repeat-containing domain;.;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1121.98	33	chr11	73900372	.	T	A	1121.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.220e-01;DP=814;ExcessHet=0.0000;FS=1.755;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.20;ReadPosRankSum=0.071;SOR=0.901	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1136,0,955	20	0	1	0
chr11	76411063	76411063	C	G	exonic	GVQW3	.	nonsynonymous SNV	GVQW3:NM_001347884:exon2:c.C667G:p.L223V,	.	.	1090	430	2	0	0	2	0.00232019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00239617	.	.	.	.	.	.	.	.	0.0006916	18	26028	rs574655085	0	1.908e-05	0	0	.	0	0	.	.	.	.	.	.	.	0	0	.	.	0.0003	0.0003	0.0002	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0	0	0.0005	0.0006	0	0	0	0.0002	0	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2459.11	43	chr11	76411063	.	C	G	2459.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.762e+00;DP=941;ExcessHet=0.1072;FS=12.151;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=-9.430e-01;SOR=0.242	GT:AD:DP:GQ:PL	0/1:35,44:79:99:1210,0,1006	19	0	2	0
chr11	78200699	78200699	C	T	exonic	USP35	.	nonsynonymous SNV	USP35:NM_020798:exon6:c.C1088T:p.S363L,	.	.	436	1053	32	1	0	34	0.0158879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.422	B	0.041	B	0.000	D	1.000	D	0.55	N	3.37	T	-0.936	T	0.112	T	0.804	2.344	13.79	4.73	2.461	5.484	17.913	0.118	.	0.0042	0.00379393	0.0056	0.0013	0.0011	0	0.0032	0.0059	0.0067	0.0144	0.0054074	836	154602	rs147270370	0.0054	0.0055	0.0051	0.0058	0.0155	0.0053	0.0053	0.0148	0.0145	0.0009	0.0026	0.0087	7.557e-05	0.0031	0.0071	0.0051	0.0066	0.0155	0.0044	0.0044	0.0047	0.0041	0.0124	0.0042	0.0041	0.0099	0.0090	0.0009	0.0263	0.0034	0.0092	0	0.0023	0.0170	0.0064	0.0052	0.0124	0.292	0.28395	T	0.14	0.33554	T	0.422	0.35435	B	0.041	0.23986	B	0.000071	0.52346	D	0.000000	0.992527	0.81001	D	0.205	0.09354	N	-0.24	0.68030	T	-1.35	0.37375	N	0.767	0.76481	-0.9361	0.43226	T	0.112	0.40052	T	10	0.0058319867	0.00130	T	.	.	.	0.118	0.32913	.	.	0.435808882951	0.43200	0.5387993112169235	0.53804	0.0731156517845	0.08196	0.591109752655	0.51651	T	0.021335	0.16634	T	-0.198357	0.21042	T	-0.0453791	0.67336	D	0.0174324986417092	0.00480	T	0.90111	0.65969	D	0.25085986	0.48090	0.14574388	0.34554	0.25085986	0.48090	0.14574388	0.34553	-6.214	0.48036	T	.	.	0.214	0.59016	B	.;.;.	.;.;.	3.423610	0.47552	22.5	0.98669950564986297	0.44456	0.97537	0.75396	D	AEFDGBI	0.403434	0.47712	N	-0.00792238119281392	0.41496	2.483102	0.159738799392151	0.47660	2.99292	0.999999721442655	0.74766	0.646311	0.45356	0	0.593476	0.48661	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.73	4.73	0.59485	3.791000	0.55173	7.353000	0.58305	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.913	0.88860	615	0.66512	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1741.11	35	chr11	78200699	.	C	T	1741.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.41;DP=835;ExcessHet=0.1072;FS=2.002;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=-5.410e-01;SOR=0.888	GT:AD:DP:GQ:PL	0/1:34,37:71:99:950,0,902	19	0	2	0
chr11	88149745	88149745	T	G	exonic	RAB38	.	nonsynonymous SNV	RAB38:NM_022337:exon2:c.A413C:p.N138T,	.	.	434	1081	7	0	0	7	0.00322729	.	.	2677441	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.037	B	0.034	B	0.000	D	1.000	D	-0.985	N	-1.27	T	-0.836	T	0.168	T	0.499	1.842	12.12	5.47	2.080	7.603	15.559	0.187	0.0986040171338	.	.	2.471e-05	0	0	0	0	4.496e-05	0	0	1.94e-05	3	154602	rs755523753	5.062e-05	5.062e-05	4.22e-05	5.913e-05	0.0023	4.125e-05	3.778e-05	0.0013	0.0011	0	0	0	0	0	0.0023	5.126e-05	4.967e-05	1.159e-05	2.626e-05	2.625e-05	1.285e-05	4.027e-05	6.538e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.538e-05	0	0	0	0	4.41e-05	0	0	0.444	0.09155	T	0.53	0.10103	T	0.037	0.20876	B	0.034	0.22546	B	0.000000	0.84330	D	0.085701	1	0.81001	D	0.16	0.08945	N	-1.27	0.79277	T	-1.06	0.27669	N	0.812	0.80767	-0.8359	0.52917	T	0.168	0.50697	T	9	0.6209884	0.67976	D	0.098604	0.76970	D	0.285	0.60338	.	.	0.883441757388	0.88230	0.5817529441714275	0.58104	0.161022513929	0.18171	0.702439308167	0.67497	T	0.299458	0.67198	T	0.0124215	0.53356	T	-0.156288	0.58684	T	0.39479598402977	0.28746	T	0.862614	0.55818	D	0.3135011	0.54087	0.23442636	0.48659	0.3135011	0.54087	0.23442636	0.48658	-5.503	0.41896	T	.	.	0.111	0.21503	B	.	.	3.407970	0.47264	22.4	0.97492681502517853	0.34251	0.98222	0.80675	D	AEFBI	0.944912	0.95257	D	-0.16801361499134	0.34470	1.967941	0.105592556351835	0.44834	2.757563	0.999905341230327	0.45458	0.693126	0.56070	0	0.708844	0.79440	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.47	5.47	0.80345	7.580000	0.81812	7.770000	0.68454	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.0:1.0	15.559	0.75963	893	0.26510	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	1758.98	38	chr11	88149745	.	T	G	1758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.843;DP=858;ExcessHet=0.0000;FS=1.319;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=0.617;SOR=0.574	GT:AD:DP:GQ:PL	0/1:80,69:149:99:1773,0,2102	20	0	1	0
chr11	89449484	89449484	C	T	exonic	NOX4	.	nonsynonymous SNV	NOX4:NM_001291929:exon3:c.G230A:p.R77K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	B	0.009	B	0.000	N	1.000	N	-0.09	N	-2.76	D	-0.698	T	0.400	T	0.341	0.277	5.497	4.5	1.244	3.375	6.966	0.228	0.0375397813023	.	0.000599042	0.0005	0	0	0	0.0043	0.0003	0	0.0011	0.0004398	68	154602	rs55977241	0.0003	0.0003	0.0003	0.0003	0.0010	0.0003	0.0003	0.0008	0.0007	0	0	0	0	0.0046	0	6.57e-05	0.0003	0.0010	0.0004	0.0004	0.0003	0.0006	0.0012	0.0004	0.0003	0.0005	0.0004	0	0	0	0	0	0.0045	0	0.0002	0	0.0012	1.0	0.10115	T	1.0	0.12351	T	0.0	0.12996	B	0.007	0.14300	B	0.000010	0.62929	N	0.105540	1	0.81001	D	-0.605	0.02211	N	-2.76	0.90848	D	-0.07	0.08033	N	0.296	0.35194	-0.6979	0.60539	T	0.400	0.75187	T	9	0.013227731	0.00281	T	0.03754	0.57677	D	0.228	0.52768	.	.	0.897246663857	0.89623	0.46824486210278243	0.46743	0.0481075759234	0.05251	0.526759624481	0.42578	T	0.193136	0.54850	T	-0.237941	0.15612	T	-0.17091	0.57360	T	0.0309559590091711	0.02138	T	0.792521	0.43410	T	0.05107928	0.09328	0.04433272	0.05722	0.05107928	0.09327	0.04433272	0.05721	1.402	0.00152	T	.	.	0.091	0.25978	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.949420	0.24760	16.52	0.70295308040230198	0.09249	0.53369	0.29355	D	AEFBI	0.289360	0.40103	N	-0.275042050961511	0.30116	1.676247	-0.0534846344767746	0.37341	2.184973	0.00295788123431705	0.09827	0.732398	0.92422	0	0.573888	0.26702	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	5.42	4.5	0.54382	3.959000	0.56451	2.684000	0.34038	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.7296:0.0:0.2704	6.966	0.23802	906	0.23090	.;.;.;Ferric reductase transmembrane component-like domain;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	1111.98	33	chr11	89449484	.	C	T	1111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=806;ExcessHet=0.0000;FS=5.672;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.19;ReadPosRankSum=-7.790e-01;SOR=1.140	GT:AD:DP:GQ:PL	0/1:71,50:121:99:1126,0,1622	20	0	1	0
chr11	90086558	90086558	G	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.G609C:p.R203S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0016	0.0005	0.0005	0.0006	0.0005	0.0004	0.0006	0.0005	0.0003	0	0.0002	0	0	0.0006	0.0006	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.31427	T	0.02	0.18235	B	0.024	0.20255	B	.	.	.	.	.	.	.	1.845	0.48678	L	.	.	.	.	.	.	0.177	0.19055	.	.	.	.	.	.	.	0.07897973	0.12652	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.20041654349623925	0.19958	.	.	0.434744000435	0.29857	T	0.02618	0.19424	T	-0.0652308	0.42086	T	-0.331476	0.41304	T	.	.	.	0.258474	0.04102	T	0.19470586	0.41231	0.14969048	0.35334	0.19470586	0.41231	0.14969048	0.35333	-1.725	0.02295	T	.	.	0.158	0.34949	B	.	.	0.764181	0.11341	7.959	0.48982207246768944	0.04133	0.11168	0.16454	N	AEFI	.	.	.	.	.	.	.	.	.	1.24664943251294E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	1.06	0.19341	1.319000	0.33260	-1.431000	0.05455	0.311000	0.19140	0.058000	0.21700	0.000000	0.08366	0.034000	0.13613	0.0:0.0:0.6123:0.3877	4.372	0.10686	911	0.21964	.	.	.	.	.	.	Uncertain significance	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	198.8	23	chr11	90086558	.	G	C	198.8	.	AC=3;AF=0.100;AN=30;BaseQRankSum=-1.641e+00;DP=659;ExcessHet=0.3672;FS=166.209;InbreedingCoeff=-0.1804;MLEAC=4;MLEAF=0.133;MQ=34.21;MQRankSum=-6.890e-01;QD=1.73;ReadPosRankSum=1.05;SOR=7.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,8:35:43:0|1:90086557_G_C:43,0,645:90086557	12	0	3	6
chr11	94104605	94104605	C	A	exonic	HEPHL1	.	nonsynonymous SNV	HEPHL1:NM_001098672:exon16:c.C2760A:p.D920E,	.	.	439	1030	50	3	0	56	0.026465	.	.	3213399	HEPHL1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.33	T	0.955	P	0.612	P	0.000	D	0.865	N	1.37	L	-5.07	D	0.667	D	0.858	D	0.611	2.410	14.02	-1.63	-0.498	-0.226	11.957	0.573	.	0.0035	0.00579073	0.0081	0.0005	0.0039	0.0001	0.0082	0.0060	0.0156	0.0277	0.0071539	1106	154602	rs148114445	0.0066	0.0066	0.0058	0.0074	0.0279	0.0065	0.0065	0.0270	0.0266	0.0008	0.0034	0.0158	0.0001	0.0094	0.0125	0.0051	0.0077	0.0279	0.0047	0.0047	0.0044	0.0050	0.0266	0.0044	0.0043	0.0229	0.0214	0.0004	0	0.0031	0.0150	0.0004	0.0098	0.0238	0.0051	0.0057	0.0266	0.251	0.17069	T	0.421	0.14075	T	0.955	0.54515	P	0.612	0.51145	P	0.000000	0.84330	D	0.000000	0.864956	0.28297	N	2.56	0.74772	M	-5.07	0.98648	D	-0.93	0.24898	N	0.458	0.49511	0.667	0.92763	D	0.858	0.95278	D	10	0.0048802793	0.00104	T	.	.	.	0.573	0.82686	0.373	0.38503	0.312001716656	0.30816	0.649742882392639	0.64910	0.264314548464	0.28980	0.54286056757	0.44850	T	0.008359	0.07680	T	-0.169378	0.25330	T	0.00487325	0.70652	D	0.0454317492620898	0.04681	T	0.763224	0.38939	T	0.11625681	0.27423	0.12888005	0.30998	0.11625681	0.27423	0.12888005	0.30997	-7.378	0.56750	T	.	.	0.717	0.73646	P	.	.	1.523259	0.19552	14.32	0.99176371962165932	0.54556	0.63278	0.32040	D	AEFBI	0.270150	0.38628	N	-0.500907730539434	0.22051	1.174723	-0.612804354904618	0.19165	1.027009	0.400691816930855	0.20128	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.66	-1.63	0.07900	-0.267000	0.08648	-1.019000	0.06586	-0.170000	0.11276	0.545000	0.27306	0.000000	0.08366	0.948000	0.49324	0.0:0.3992:0.0:0.6008	11.957	0.52272	725	0.54935	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3926.11	34	chr11	94104605	.	C	A	3926.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.19;DP=1004;ExcessHet=0.1072;FS=0.390;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=-2.990e-01;SOR=0.670	GT:AD:DP:GQ:PL	0/1:80,83:163:99:1979,0,1920	19	0	2	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	1/1:0,122,0:130:99:.:.:5128,375,0,5188,380,5522	0	17	3	0
chr11	103236469	103236469	A	G	exonic	DYNC2H1	.	nonsynonymous SNV	DYNC2H1:NM_001080463:exon63:c.A9749G:p.Q3250R	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	.	11	1492	18	1	0	20	0.00665779	.	.	195492	not_specified|not_provided|Short_rib-polydactyly_syndrome|Jeune_thoracic_dystrophy	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.28	T	0.518	P	0.252	B	0.000	D	1.000	D	0.92	L	1.65	T	-1.063	T	0.092	T	0.559	3.587	18.27	5.69	2.167	8.812	15.990	0.174	.	0.0012	0.00239617	0.0029	0.0002	0.0009	0	0	0.0022	0.0022	0.0116	0.002652	410	154602	rs140830294	0.0023	0.0024	0.0021	0.0026	0.0115	0.0023	0.0022	0.0109	0.0106	0.0002	0.0011	0.0131	0	0.0002	0.0112	0.0016	0.0031	0.0115	0.0019	0.0019	0.0020	0.0017	0.0114	0.0017	0.0016	0.0090	0.0081	0.0003	0	0.0026	0.0138	0	0.0002	0.0068	0.0017	0.0038	0.0114	0.282	0.19430	T	0.552	0.09393	T	0.065	0.37483	B	0.056	0.39069	B	0.000457	0.44317	D	0.198629	0.999991	0.81001	D	0.875	0.21512	L	1.65	0.38883	T	-2.25	0.50337	N	0.51	0.57946	-1.0627	0.11093	T	0.092	0.35119	T	10	0.009339243	0.00211	T	.	.	.	0.174	0.44019	.	.	0.716290961394	0.71379	0.6241017257502343	0.62343	0.0691000608039	0.07735	0.715855002403	0.69442	T	0.171879	0.52016	T	-0.361006	0.04073	T	-0.281941	0.46606	T	0.0231418284931443	0.01040	T	0.863414	0.55914	D	0.45513895	0.64367	0.37592888	0.62726	0.4375642	0.63245	0.43919477	0.67280	-9.413	0.70316	D	0.39480278463588137	0.48747	0.273	0.54529	B	.;.;.;.	.;.;.;.	3.637035	0.51552	23.1	0.996764475609072	0.78977	0.98797	0.86978	D	AEFI	0.909330	0.86581	D	0.186195066284451	0.50537	3.242698	0.36461638688929	0.59393	4.116746	0.99924527578784	0.38873	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.69	5.69	0.88346	8.800000	0.91521	.	.	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.990	0.79993	603	0.67726	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	1307.11	34	chr11	103236469	.	A	G	1307.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.33;DP=777;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=0.294;SOR=0.756	GT:AD:DP:GQ:PL	0/1:35,23:58:99:532,0,814	19	0	2	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	0/1:134,25,7:166:61:.:.:61,0,4252,201,4273,4483	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	0/1:134,25,7:166:61:.:.:61,0,4252,201,4273,4483	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	0/1:134,32:166:99:.:.:123,0,4247	2	0	13	6
chr11	117397294	117397294	T	C	exonic	CEP164	.	nonsynonymous SNV	CEP164:NM_001271933:exon26:c.T3491C:p.M1164T	Nephronophthisis 15, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1431692	Inborn_genetic_diseases|Nephronophthisis_15	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845,Orphanet:3156	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.51	T	0.002	B	0.005	B	0.607	N	1.000	N	1.01	L	1.96	T	-0.981	T	0.039	T	0.146	-1.381	0.025	1.43	0.370	0.296	8.119	0.029	0.00781159314202	7.7e-05	.	1.706e-05	0	0	0	0	1.556e-05	0	6.239e-05	1.94e-05	3	154602	rs375136293	1.848e-05	1.847e-05	1.498e-05	2.202e-05	8.122e-05	1.266e-05	1.085e-05	3.768e-05	2.663e-05	2.989e-05	2.237e-05	0	5.039e-05	0	0	1.349e-05	1.659e-05	8.122e-05	2.628e-05	2.627e-05	1.285e-05	4.035e-05	7.239e-05	8.14e-06	5.14e-06	1.919e-05	1.032e-05	7.239e-05	0	0	0	0	0	0	1.47e-05	0	0	0.152	0.24468	T	0.351	0.17425	T	0.002	0.09854	B	0.005	0.11217	B	0.606948	0.05679	N	1.255810	0.999994	0.08975	N	1.5	0.37844	L	1.96	0.22270	T	-1.41	0.34795	N	0.101	0.08366	-0.9810	0.34771	T	0.039	0.16849	T	10	0.03469029	0.01687	T	0.007812	0.20720	T	0.029	0.06676	.	.	0.0846915920261	0.08053	0.06758007092248002	0.06696	0.132759123036	0.14957	0.265297234058	0.05538	T	0.02578	0.19207	T	-0.395517	0.02477	T	-0.624381	0.10844	T	0.0141857516415785	0.00279	T	0.416058	0.10924	T	0.025705168	0.01540	0.06931057	0.14588	0.025705168	0.01539	0.06931057	0.14587	-2.55	0.06132	T	0.13079247627679594	0.13792	0.131	0.28116	B	.	.	0.915934	0.12904	9.416	0.34119353736202901	0.02070	0.06326	0.12323	N	AEFBI	0.025961	0.01868	N	-0.930702873702198	0.10129	0.4825899	-0.924922319761371	0.11507	0.5866166	0.139508996737312	0.17246	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.02	1.43	0.21585	0.297000	0.18856	-0.086000	0.12117	-0.171000	0.11205	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	0.0:0.2429:0.0:0.7571	8.119	0.30119	796	0.45353	.	.	.	.	.	.	Uncertain significance	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	4288.08	42	chr11	117397294	.	T	C	4288.08	.	AC=2;AF=0.048;AN=42;DP=925;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.41;SOR=0.926	GT:AD:DP:GQ:PL	1/1:0,141:141:99:4316,423,0	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	2/2:0,0,133:133:99:.:.:5545,5545,5545,406,406,0	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	2/2:0,0,133:133:99:.:.:5545,5545,5545,406,406,0	1	0	0	0
chr11	121625202	121625202	G	A	exonic	SORL1	.	nonsynonymous SNV	SORL1:NM_003105:exon46:c.G6289A:p.V2097I,	.	.	424	1095	2	1	0	4	0.00182315	.	.	752502	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.16	T	0.999	D	0.979	D	0.086	N	1.000	D	0.805	L	-0.02	T	-0.566	T	0.247	T	0.512	5.077	31	5.32	2.476	9.183	19.007	0.209	0.0246876495006	0.0007	0.00119808	0.0012	0	0.0004	0.0074	0	0.0011	0.0011	0.0003	0.0011966	185	154602	rs74642146	0.0011	0.0011	0.0011	0.0011	0.0050	0.0011	0.0010	0.0044	0.0042	0.0002	0.0004	0.0024	0.0050	5.616e-05	0.0002	0.0011	0.0008	0.0003	0.0008	0.0008	0.0010	0.0007	0.0056	0.0007	0.0007	0.0040	0.0035	0.0004	0	0.0007	0.0014	0.0056	0	0	0.0009	0.0014	0.0002	0.206	0.53172	T	0.0	0.92824	D	0.999	0.77913	D	0.979	0.74454	D	0.085661	0.20630	N	0.466331	0.999986	0.58761	D	1.7	0.43825	L	-0.02	0.62918	T	-0.54	0.19720	N	0.577	0.61341	-0.5655	0.66193	T	0.247	0.61600	T	10	0.0096253455	0.00217	T	0.024688	0.47677	T	0.209	0.49871	.	.	0.673404836468	0.67064	0.5797153268280987	0.57900	0.80779589675	0.66579	0.544460535049	0.45076	T	0.071814	0.34300	T	-0.283644	0.10286	T	-0.176486	0.56848	T	0.0451957220181716	0.04637	T	0.976102	0.91674	D	0.0461138	0.07664	0.07279943	0.15747	0.0461138	0.07664	0.07279943	0.15747	-4.32	0.28457	T	.	.	0.114	0.26947	B	.;.;.;.;.	.;.;.;.;.	4.922944	0.81098	27.5	0.99850322202121256	0.93013	0.98847	0.87641	D	AEFBI	0.880129	0.80655	D	0.690113816007144	0.78986	6.983038	0.72555623355056	0.84317	8.25901	0.999999999995056	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	5.32	5.32	0.75377	9.316000	0.95400	11.810000	0.96908	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	19.007	0.92834	856	0.34373	Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1727.98	36	chr11	121625202	.	G	A	1727.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=852;ExcessHet=0.0000;FS=4.748;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=0.395;SOR=0.417	GT:AD:DP:GQ:PL	0/1:91,69:160:99:1742,0,2225	20	0	1	0
chr11	123943438	123943438	G	T	exonic	OR6T1	.	nonsynonymous SNV	OR6T1:NM_001005187:exon1:c.C401A:p.T134N,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.719	P	0.41	B	.	.	1.000	N	2.24	M	6.62	T	-0.932	T	0.002	T	0.155	0.833	8.361	1.96	0.301	-0.298	7.436	0.040	0.00330630974537	0.0049	0.00219649	0.0041	0.0015	0.0026	0	0.0030	0.0056	0.0078	0.0030	0.004282	662	154602	rs145832379	0.0063	0.0063	0.0064	0.0062	0.0074	0.0062	0.0061	0.0073	0.0072	0.0007	0.0030	0.0007	0	0.0023	0.0014	0.0074	0.0059	0.0034	0.0045	0.0045	0.0046	0.0044	0.0073	0.0042	0.0041	0.0067	0.0065	0.0010	0.0417	0.0039	0	0	0.0033	0.0034	0.0073	0.0028	0.0023	0.015	0.52492	D	0.057	0.46406	T	0.719	0.42322	P	0.41	0.44785	B	.	.	.	.	1	0.08975	N	2.29	0.65257	M	6.62	0.00515	T	-3.94	0.73378	D	0.331	0.37197	-0.9325	0.43770	T	0.002	0.00676	T	9	0.012480944	0.00268	T	0.003306	0.07329	T	0.040	0.10527	.	.	0.459100921832	0.45533	0.12361447900885349	0.12287	0.0522752924794	0.05748	0.287145197392	0.08508	T	0.013366	0.11574	T	-0.618413	0.00112	T	-0.654119	0.08667	T	0.054620371212835	0.06294	T	0.684832	0.29327	T	0.29160312	0.52141	0.17342089	0.39667	0.29160312	0.52141	0.17342089	0.39666	-7.262	0.55925	T	.	.	0.092	0.13456	B	.	.	0.090294	0.04941	1.512	0.97011430873364379	0.31985	0.12208	0.17127	N	AEFI	0.080405	0.16256	N	-0.40508377701742	0.25291	1.371778	-0.587327501750802	0.19823	1.065298	8.16519846140638E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.85	1.96	0.25203	-1.149000	0.03292	-3.486000	0.02750	-0.164000	0.11507	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.2204:0.0:0.7796:0.0	7.436	0.26326	883	0.28872	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	1710.98	34	chr11	123943438	.	G	T	1710.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.050e-01;DP=1535;ExcessHet=0.0000;FS=0.593;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=0.380;SOR=0.681	GT:AD:DP:GQ:PL	0/1:90,67:157:99:1725,0,2553	20	0	1	0
chr12	885158	885158	A	G	exonic	WNK1	.	nonsynonymous SNV	WNK1:NM_014823:exon17:c.A3613G:p.T1205A	Neuropathy, hereditary sensory and autonomic, type II, Autosomal recessive;Pseudohypoaldosteronism, type IIC, Autosomal dominant	.	0	1496	24	2	0	28	0.00927152	.	.	334722	Pseudohypoaldosteronism_type_2C|Inborn_genetic_diseases|Neuropathy,_hereditary_sensory_and_autonomic,_type_2A|not_provided	MONDO:MONDO:0013778,MedGen:C1840391,OMIM:614492,Orphanet:757,Orphanet:88940|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.47	T	0.001	B	0.002	B	0.009	N	1.000	N	0	N	0.7	T	-1.040	T	0.123	T	0.073	0.752	7.983	2.82	1.073	0.374	5.613	0.037	0.0117445497982	0.0006	0.00219649	0.0022	9.623e-05	0.0004	0	0	0.0016	0.0033	0.0086	0.0018628	288	154602	rs142543401	0.0013	0.0013	0.0010	0.0016	0.0083	0.0013	0.0012	0.0078	0.0076	8.961e-05	0.0012	0.0092	0	3.744e-05	0.0057	0.0007	0.0017	0.0083	0.0009	0.0009	0.0009	0.0010	0.0075	0.0008	0.0008	0.0055	0.0049	7.218e-05	0	0.0004	0.0078	0	0	0.0068	0.0009	0.0024	0.0075	0.229	0.18371	T	0.879	0.04079	T	0.001	0.07471	B	0.002	0.06944	B	0.008641	0.30747	N	0.278057	0.976503	0.25550	N	1.04	0.26193	L	-0.53	0.70833	T	-1.51	0.43524	N	0.009	0.00942	-1.0395	0.17465	T	0.123	0.42568	T	10	0.003441602	0.00061	T	0.011745	0.29664	T	0.037	0.09474	.	.	0.128874641272	0.12493	0.0696190929113242	0.06899	0.127101656324	0.14323	0.28781157732	0.08604	T	0.091031	0.59146	T	-0.536776	0.00350	T	-0.538268	0.18468	T	0.0079826106108378	0.00094	T	0.80282	0.45191	T	0.029895239	0.02561	0.03243497	0.01978	0.028756766	0.02262	0.042440437	0.05055	-3.796	0.21854	T	.	.	0.080	0.16231	B	.;.;.;.;.	.;.;.;.;.	0.772602	0.11424	8.034	0.88948226065806413	0.18385	0.10986	0.16329	N	AEFDGBI	0.061800	0.11839	N	-0.766911128326192	0.14178	0.7041848	-0.643701135600719	0.18376	0.981365	0.859200026322448	0.25192	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.3	2.82	0.32061	0.378000	0.20298	0.654000	0.20444	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.537000	0.29868	0.6019:0.239:0.1591:0.0	5.613	0.16694	552	0.72024	.;.;.;.;.	.	.	.	.	.	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	4415.98	159	chr12	885158	.	A	G	4415.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=3418;ExcessHet=0.0000;FS=0.404;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=1.31;SOR=0.653	GT:AD:DP:GQ:PL	0/1:153,168:321:99:4430,0,3720	20	0	1	0
chr12	916501	916501	G	A	exonic	RAD52	.	nonsynonymous SNV	RAD52:NM_001297422:exon9:c.C760T:p.R254C,	.	.	413	1106	3	0	0	3	0.0013544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.001	B	0.0	B	.	.	1.000	N	.	.	1.37	T	-1.003	T	0.046	T	0.06	1.817	12.03	-6.85	-1.263	0.191	2.443	0.040	0.00179909436572	.	.	0.0002	0	0.0002	0	0	0.0002	0	0.0007	0.0001682	26	154602	rs746941880	0.0001	0.0001	9.855e-05	0.0001	0.0014	0.0001	9.955e-05	0.0007	0.0005	2.992e-05	0.0005	3.838e-05	0	0	0.0014	7.656e-05	6.655e-05	0.0006	6.57e-05	6.566e-05	6.422e-05	6.724e-05	0.0004	3.516e-05	2.616e-05	7.276e-05	3.024e-05	2.412e-05	0	0.0002	0	0	0	0.0032	4.409e-05	0	0.0004	0.024	0.47745	D	0.02	0.58613	D	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.37	0.34253	T	-1.37	0.33998	N	0.143	0.14338	-1.0031	0.29021	T	0.046	0.19599	T	8	0.035342306	0.01779	T	0.001799	0.03089	T	0.040	0.10527	.	.	0.12205267543	0.11705	.	.	.	.	.	.	.	0.020918	0.16384	T	-0.587598	0.00173	T	-0.736882	0.04023	T	0.0069716924210103	0.00079	T	0.371663	0.08799	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24088	B	.	.	0.690920	0.10597	7.300	0.91324163629803257	0.20586	0.05849	0.11793	N	AEFDBHCIJ	0.033913	0.04109	N	-1.3570937406334	0.03052	0.1357354	-1.50997507081581	0.02267	0.1039959	0.999999898515087	0.74766	0.562547	0.31514	0	0.573116	0.20632	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	3.87	-6.85	0.01521	-0.522000	0.06323	-0.435000	0.09196	-0.254000	0.07082	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.1889:0.2973:0.3801:0.1337	2.443	0.04225	498	0.76166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	934.98	37	chr12	916501	.	G	A	934.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.85;ReadPosRankSum=-1.071e+00;SOR=0.719	GT:AD:DP:GQ:PL	0/1:28,31:59:99:949,0,743	20	0	1	0
chr12	6667913	6667918	TGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1187del:p.Q399_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:0,5,50,0,0:55:21:2082,1875,2146,179,0,21,2095,2033,199,2220,2095,2033,199,2220,2220	0	0	0	0
chr12	6667916	6667918	TGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1184del:p.Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:0,5,50,0,0:55:21:2082,1875,2146,179,0,21,2095,2033,199,2220,2095,2033,199,2220,2220	0	0	0	0
chr12	6667918	6667918	-	TGC	exonic	ZNF384	.	nonframeshift insertion	ZNF384:NM_001039920:exon9:c.1181_1182insGCA:p.Q400_P401insQ	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:0,5,50,0,0:55:21:2082,1875,2146,179,0,21,2095,2033,199,2220,2095,2033,199,2220,2220	0	0	0	0
chr12	6667904	6667918	TGCTGCTGCTGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1196del:p.Q396_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169898408	0.0003	0.0004	0.0003	0.0004	0.0008	0.0003	0.0003	0.0006	0.0006	0.0004	0.0003	3.944e-05	0.0002	0	0.0004	0.0003	0.0004	0.0008	0.0002	0.0002	0.0002	0.0002	0.0013	0.0002	0.0001	0.0006	0.0004	0.0002	0	0	0	0	0	0.0035	0.0003	0	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:0,5,50,0,0:55:21:2082,1875,2146,179,0,21,2095,2033,199,2220,2095,2033,199,2220,2220	0	0	0	0
chr12	6855789	6855789	C	A	exonic	USP5	.	nonsynonymous SNV	USP5:NM_001382588:exon2:c.C146A:p.P49Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.978	D	0.862	P	0.000	D	1.000	D	1.525	L	1.93	T	-1.109	T	0.108	T	0.642	3.976	20.4	5.14	2.677	7.320	18.808	0.123	0.0129428964049	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1349602827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-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	0.314	0.13834	T	0.596	0.16914	T	0.978	0.58756	D	0.862	0.61339	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.44	0.70756	M	1.92	0.23082	T	-1.15	0.41428	N	0.616	0.63204	-1.1085	0.03201	T	0.108	0.39172	T	10	0.36200017	0.52806	T	0.012943	0.31944	T	0.123	0.34020	0.342	0.33464	0.383934971476	0.38010	0.5960132221761137	0.59531	0.820355342577	0.67139	0.624502062798	0.56365	T	0.181644	0.53338	T	0.00962	0.52973	T	-0.223958	0.52355	T	0.941167175769806	0.61416	D	0.926807	0.74365	D	0.19426142	0.41169	0.13857277	0.33091	0.19426142	0.41169	0.13857277	0.33090	-5.772	0.44330	T	.	.	0.256	0.80568	B	.;.;.	.;.;.	3.769455	0.54128	23.4	0.98683580449315289	0.44652	0.99725	0.98989	D	AEFBI	0.899675	0.84433	D	0.574466638930291	0.71583	5.673138	0.602154864825471	0.75096	6.250498	0.999999999984191	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.14	5.14	0.70008	7.388000	0.79070	7.639000	0.63104	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	18.808	0.92011	562	0.71143	.;.;.	.	.	.	.	.	Uncertain significance	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	95.98	34	chr12	6855789	.	C	A	95.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.930e-01;DP=858;ExcessHet=0.0000;FS=38.743;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=0.561;SOR=5.282	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,13:141:99:0|1:6855789_C_A:110,0,5188:6855789	20	0	1	0
chr12	6855791	6855791	C	A	exonic	USP5	.	nonsynonymous SNV	USP5:NM_001382588:exon2:c.C148A:p.P50T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.799	P	0.615	P	0.000	D	1.000	D	2.46	M	1.81	T	-0.944	T	0.133	T	0.721	4.655	25.6	5.14	2.677	7.320	18.808	0.293	0.0190983388437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.74150	D	0.598	0.44910	P	0.408	0.51231	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.105	0.58435	M	1.8	0.25344	T	-5.61	0.87911	D	0.683	0.73195	-0.9441	0.41960	T	0.133	0.44484	T	10	0.6691886	0.70609	D	0.019098	0.41369	T	0.293	0.61272	0.342	0.33464	0.475375588166	0.47167	0.7578345136441068	0.75731	0.918765570636	0.71367	0.66427052021	0.62020	T	0.700227	0.91362	D	0.0845996	0.62575	D	-0.116255	0.62108	T	0.993655204772949	0.84541	D	0.945605	0.79272	D	0.7458478	0.80628	0.58224964	0.75783	0.7458478	0.80629	0.58224964	0.75783	-6.68	0.52863	T	.	.	0.354	0.82272	A	.;.;.	.;.;.	3.973346	0.58361	24.0	0.99809938144482013	0.89353	0.99725	0.98989	D	AEFBI	0.875273	0.79859	D	0.530194145179642	0.68885	5.279055	0.530638039307535	0.70064	5.45025	0.999999999984191	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.14	5.14	0.70008	7.388000	0.79070	7.639000	0.63104	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	18.808	0.92011	562	0.71143	.;.;.	.	.	.	.	.	Uncertain significance	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	95.98	34	chr12	6855791	.	C	A	95.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.40;DP=957;ExcessHet=0.0000;FS=38.743;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=0.802;SOR=5.282	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,13:141:99:0|1:6855789_C_A:110,0,5188:6855789	20	0	1	0
chr12	6855792	6855792	C	A	exonic	USP5	.	nonsynonymous SNV	USP5:NM_001382588:exon2:c.C149A:p.P50H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.987	D	0.000	D	1.000	D	2.805	M	1.76	T	-0.647	T	0.206	T	0.669	4.789	27.0	5.14	2.677	7.320	18.808	0.344	0.045784293952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.83351	D	1.0	0.90584	D	0.982	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.565	0.75005	M	1.76	0.25996	T	-5.98	0.91522	D	0.721	0.76111	-0.6474	0.62827	T	0.206	0.56499	T	10	0.708569	0.72896	D	0.045784	0.62147	D	0.344	0.66582	0.286	0.24440	0.492788151913	0.48912	0.7158505129971987	0.71528	1.75615773249	0.91047	0.684079766273	0.64855	T	0.66973	0.90183	D	0.0781614	0.61824	D	-0.125503	0.61347	T	0.997639298439026	0.92037	D	0.914708	0.69569	D	0.8373648	0.86420	0.742622	0.84787	0.8373648	0.86421	0.742622	0.84788	-9.419	0.71486	D	.	.	0.533	0.86867	A	.;.;.	.;.;.	4.242257	0.64330	24.7	0.99709834711984857	0.81283	0.99725	0.98989	D	AEFBI	0.887409	0.81963	D	0.81219932581177	0.86865	9.023993	0.730000629561242	0.84655	8.353264	0.999999999984191	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.14	5.14	0.70008	7.388000	0.79070	5.946000	0.51564	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	18.808	0.92011	562	0.71143	.;.;.	.	.	.	.	.	Uncertain significance	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	95.98	34	chr12	6855792	.	C	A	95.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.403e+00;DP=900;ExcessHet=0.0000;FS=38.743;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=0.855;SOR=5.282	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,13:141:99:0|1:6855789_C_A:110,0,5188:6855789	20	0	1	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	0/3:23,0,0,25,2,0,0:50:99:.:.:934,1050,2242,1050,2242,2242,0,1262,1262,1503,926,1844,1844,810,1768,1050,2242,2242,1262,1844,2242,1050,2242,2242,1262,1844,2242,2242	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	0/3:23,0,0,25,2,0,0:50:99:.:.:934,1050,2242,1050,2242,2242,0,1262,1262,1503,926,1844,1844,810,1768,1050,2242,2242,1262,1844,2242,1050,2242,2242,1262,1844,2242,2242	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	0/3:23,0,0,25,2,0,0:50:99:.:.:934,1050,2242,1050,2242,2242,0,1262,1262,1503,926,1844,1844,810,1768,1050,2242,2242,1262,1844,2242,1050,2242,2242,1262,1844,2242,2242	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	0/3:23,0,0,25,2,0,0:50:99:.:.:934,1050,2242,1050,2242,2242,0,1262,1262,1503,926,1844,1844,810,1768,1050,2242,2242,1262,1844,2242,1050,2242,2242,1262,1844,2242,2242	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	0/3:23,0,0,25,2,0,0:50:99:.:.:934,1050,2242,1050,2242,2242,0,1262,1262,1503,926,1844,1844,810,1768,1050,2242,2242,1262,1844,2242,1050,2242,2242,1262,1844,2242,2242	1	0	2	0
chr12	7368939	7368939	A	G	exonic	CD163L1	.	nonsynonymous SNV	CD163L1:NM_001297650:exon16:c.T4096C:p.S1366P	.	.	432	1082	8	0	0	8	0.00368324	.	.	3185150	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.21	T	0.963	D	0.61	P	.	.	1.000	N	-0.46	N	4.82	T	-0.901	T	0.004	T	0.37	-0.877	0.487	-0.841	-0.649	0.355	.	0.020	0.00213138016052	0.0021	0.00139776	0.0022	0.0008	0.0023	0	0.0011	0.0033	0.0011	0.0004	0.0022315	345	154602	rs145256685	0.0030	0.0031	0.0030	0.0031	0.0034	0.0030	0.0029	0.0033	0.0033	0.0006	0.0027	0.0084	0	0.0009	0.0026	0.0034	0.0030	0.0007	0.0021	0.0021	0.0022	0.0020	0.0030	0.0019	0.0018	0.0027	0.0026	0.0008	0	0.0021	0.0078	0	0.0006	0.0137	0.0030	0.0019	0.0006	0.142	0.25457	T	0.374	0.16328	T	0.963	0.55692	D	0.61	0.51087	P	.	.	.	.	1	0.08975	N	0	0.06538	N	4.82	0.01516	T	-0.2	0.11008	N	0.276	0.40364	-0.9010	0.47889	T	0.004	0.01226	T	8	0.006833434	0.00155	T	0.002131	0.03962	T	0.081	0.23632	.	.	0.229924730088	0.22615	0.7469785868401295	0.74643	0.40024768225	0.41026	0.357838451862	0.19069	T	0.003662	0.03070	T	-0.544142	0.00316	T	-0.55427	0.16918	T	0.00503492827669859	0.00054	T	0.29517	0.05454	T	0.15366879	0.34820	0.17620549	0.40139	0.15366879	0.34820	0.17620549	0.40138	-5.006	0.36905	T	.	.	0.086	0.10594	B	.;.	.;.	2.002407	0.25439	16.76	0.25797429387565318	0.01206	0.00688	0.02942	N	AEFBI	0.092913	0.18805	N	-1.15213811908077	0.05745	0.2627078	-1.32641851020254	0.04092	0.1922834	0.997886754989025	0.36150	0.615465	0.37627	0	0.475579	0.06741	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	0.421	-0.841	0.10207	0.042000	0.13834	-0.384000	0.09521	-0.193000	0.09282	0.646000	0.28137	0.010000	0.20010	0.017000	0.10941	.	.	.	779	0.47767	.;.	.	.	.	.	.	Uncertain significance	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	853.98	34	chr12	7368939	.	A	G	853.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.280e-01;DP=799;ExcessHet=0.0000;FS=2.871;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.60;ReadPosRankSum=1.07;SOR=1.061	GT:AD:DP:GQ:PL	0/1:53,36:89:99:868,0,1380	20	0	1	0
chr12	10825578	10825578	G	A	exonic	TAS2R10	.	nonsynonymous SNV	TAS2R10:NM_023921:exon1:c.C692T:p.S231F,	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.521	P	0.619	P	0.004	N	1.000	N	3.135	M	1.37	T	-0.604	T	0.199	T	0.582	2.881	15.60	2.73	0.491	2.048	8.810	0.220	0.0127279096405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.421e-06	3.42e-06	4.084e-06	2.751e-06	0.0002	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.598e-06	0	0	6.582e-06	6.569e-06	0	1.348e-05	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	0.001	0.78490	D	0.019	0.59159	D	0.521	0.37531	P	0.619	0.51356	P	0.004156	0.34057	N	0.240122	0.611743	0.30854	N	3.47	0.92451	M	1.37	0.34253	T	-5.07	0.82830	D	0.444	0.48227	-0.6035	0.64672	T	0.199	0.55499	T	10	0.76932883	0.76954	D	0.012728	0.31557	T	0.220	0.51569	0.784	0.90768	0.466398759226	0.46266	0.20532321815965382	0.20449	0.030913611197	0.03200	0.329008996487	0.14784	T	0.132664	0.46289	T	-0.0259	0.48008	T	-0.27498	0.47316	T	0.964855849742889	0.67086	D	.	.	.	0.7268556	0.79546	0.68993694	0.81757	0.7268556	0.79547	0.68993694	0.81758	-6.726	0.52006	T	.	.	0.214	0.44332	B	.	.	2.839678	0.37459	20.5	0.99696159934398698	0.80316	0.54060	0.29523	D	AEFI	0.078360	0.15808	N	0.127031718346172	0.47725	2.994352	0.0293732916834897	0.41086	2.462498	5.11123621861437E-4	0.07201	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	4.57	2.73	0.31266	2.119000	0.41582	1.914000	0.29665	0.618000	0.50648	0.608000	0.27813	0.020000	0.20764	0.882000	0.42233	0.189:0.0:0.811:0.0	8.810	0.34119	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	0	0	0	0	0.02381	1830.98	35	chr12	10825578	.	G	A	1830.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.796e+00;DP=866;ExcessHet=0.0000;FS=5.987;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=-4.480e-01;SOR=0.645	GT:AD:DP:GQ:PL	0/1:71,75:146:99:1845,0,1856	20	0	1	0
chr12	11031068	11031068	C	T	exonic	TAS2R31	.	nonsynonymous SNV	TAS2R31:NM_176885:exon1:c.G268A:p.V90I,	.	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.345	B	0.196	B	.	.	1.000	N	0.86	L	5.77	T	-0.910	T	0.002	T	0.126	0.801	8.213	0.335	-0.058	-0.243	2.978	0.009	0.00174888578373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.567e-06	6.566e-06	0	1.344e-05	1.469e-05	0	0	.	.	0	0	0	0	0	0	0	1.469e-05	0	0	0.153	0.24372	T	0.382	0.15890	T	0.345	0.33546	B	0.196	0.36635	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	5.77	0.00687	T	-0.48	0.15379	N	0.192	0.21056	-0.9096	0.46904	T	0.002	0.00769	T	9	0.09746665	0.17557	T	0.001749	0.02960	T	0.009	0.00846	0.434	0.48500	0.15556083564	0.15200	0.029999303461076845	0.02948	0.0216781632593	0.02158	0.269209504128	0.06038	T	5.86E-4	0.00238	T	-0.341596	0.05278	T	-0.728455	0.04398	T	0.119674319438183	0.14398	T	.	.	.	0.060423117	0.12398	0.039411694	0.04027	0.060423117	0.12397	0.039411694	0.04026	-4.357	0.28968	T	.	.	0.091	0.12938	B	.	.	0.052239	0.04656	1.308	0.91414470407076442	0.20681	0.00516	0.02410	N	AEFBI	0.026033	0.01885	N	-0.973712413719705	0.09168	0.4327847	-1.10109023754353	0.07679	0.3745079	6.24120799716302E-5	0.04366	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.664235	0.64389	0	.	.	2.45	0.335	0.15193	-0.548000	0.06138	-20.000000	0.00162	-0.339000	0.05715	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2635:0.5719:0.0:0.1645	2.978	0.05581	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	0.02381	1630.98	311	chr12	11031068	.	C	T	1630.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.787;DP=5920;ExcessHet=0.0000;FS=5.077;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.72;MQRankSum=-7.398e+00;QD=4.52;ReadPosRankSum=-1.192e+00;SOR=0.996	GT:AD:DP:GQ:PL	0/1:278,83:361:99:1645,0,10367	20	0	1	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	0/1:73,21,0:94:99:399,0,2339,619,2402,3020	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	0/1:28,50,0:78:99:.:.:1631,0,659,1757,623,2458	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|1:0,26,0:26:77:1|1:11353469_A_G:941,82,0,901,77,898:11353469	0	8	4	7
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	0/2:51,0,39:90:99:1459,1612,3724,0,2112,1992	15	0	1	1
chr12	21805301	21805301	G	C	exonic	ABCC9	.	nonsynonymous SNV	ABCC9:NM_005691:exon40:c.C4523G:p.S1508C,	Atrial fibrillation, familial, 12, Autosomal dominant;Cardiomyopathy, dilated, 1O;Hypertrichotic osteochondrodysplasia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.78	P	0.541	P	.	.	1.000	D	2.91	M	-1.63	D	0.499	D	0.642	D	0.726	4.371	23.1	5.06	1.517	9.233	15.023	0.746	0.107305408838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0035	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0004	0.0004	0	0.0001	5.056e-05	0	0	0.0005	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.037	0.51737	D	0.78	0.44271	P	0.541	0.48869	P	.	.	.	.	0.942115	0.81001	D	3.565	0.93411	H	-1.63	0.82440	D	-2.82	0.59545	D	0.861	0.85766	0.499	0.90534	D	0.642	0.87509	D	9	0.86013865	0.85229	D	0.107305	0.78332	D	0.746	0.91242	0.654	0.79172	0.938725009223	0.93809	.	.	.	.	.	.	.	0.837545	0.96181	D	0.236237	0.77305	D	0.101562	0.77011	D	0.965997040271759	0.67442	D	0.819018	0.47665	T	0.19674279	0.41513	0.22112092	0.46911	0.19674279	0.41513	0.22112092	0.46911	-8.375	0.63599	D	0.10600428853165336	0.08469	0.131	0.28319	B	.;.	.;.	3.249126	0.44386	21.9	0.99414692704072116	0.63453	0.99285	0.93953	D	AEFI	0.920507	0.89258	D	0.684879813253823	0.78641	6.912787	0.691786436055985	0.81756	7.601414	0.91949839964056	0.26603	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.95	5.06	0.67838	9.363000	0.96541	10.001000	0.83042	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8578:0.1422	15.023	0.71308	709	0.56835	ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1818	287.35	50	chr12	21805301	.	G	C	287.35	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-9.290e-01;DP=837;ExcessHet=0.6776;FS=112.828;InbreedingCoeff=-0.2768;MLEAC=6;MLEAF=0.273;MQ=60.00;MQRankSum=0.00;QD=1.56;ReadPosRankSum=1.14;SOR=9.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,15:66:99:0|1:21805301_G_C:111,0,1546:21805301	7	0	4	10
chr12	29311098	29311098	C	T	exonic	FAR2	.	nonsynonymous SNV	FAR2:NM_001271784:exon6:c.C548T:p.T183I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.009	B	0.012	B	0.001	N	0.994	N	-1.59	N	1.98	T	-0.941	T	0.011	T	0.198	0.312	5.691	1.56	0.597	1.494	6.917	0.067	0.00265185455124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.03502	T	0.701	0.06147	T	0.009	0.15093	B	0.012	0.16012	B	0.001156	0.40056	N	0.212030	0.99353	0.23694	N	-0.695	0.01866	N	1.98	0.21865	T	2.73	0.00184	N	0.205	0.22742	-0.9411	0.42442	T	0.011	0.03996	T	10	0.03974697	0.02489	T	0.002652	0.05406	T	0.067	0.19503	0.562	0.68229	0.168254554758	0.16434	0.6445084295669288	0.64385	0.478096384883	0.46899	0.323771834373	0.13992	T	0.034525	0.23358	T	-0.235002	0.15991	T	-0.57534	0.14963	T	0.106398269534111	0.13047	T	0.80472	0.45238	T	0.049099836	0.08663	0.04227831	0.05000	0.049099836	0.08663	0.04227831	0.05000	-1.041	0.01437	T	.	.	0.083	0.16054	B	.;.;.	.;.;.	1.064764	0.14465	11.04	0.84620371807550532	0.15398	0.42766	0.26950	N	AEFBI	0.118235	0.23128	N	-0.899118992945602	0.10863	0.5212559	-0.699685928821288	0.16968	0.9001243	1.62962658824067E-4	0.05721	0.719381	0.83141	0	0.670034	0.63936	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	4.38	1.56	0.22423	1.432000	0.34545	0.226000	0.16132	0.580000	0.29708	0.883000	0.31049	0.003000	0.18671	0.966000	0.53164	0.0:0.7435:0.0:0.2565	6.917	0.23547	951	0.11083	Male sterility, NAD-binding;Male sterility, NAD-binding;.	.	.	.	.	.	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	0.07143	155.75	35	chr12	29311098	.	C	T	155.75	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.820e+00;DP=1615;ExcessHet=0.3300;FS=89.849;InbreedingCoeff=-0.0786;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=0.920;SOR=9.926	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,18:146:43:0|1:29311098_C_T:43,0,4965:29311098	18	0	3	0
chr12	31091731	31091731	C	T	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon10:c.C1102T:p.P368S	Warsaw breakage syndrome, Autosomal recessive	.	1	1276	245	0	0	245	0.0875939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	3.4	M	1.14	T	-0.338	T	0.280	T	0.724	3.966	20.3	3.05	1.535	6.995	11.616	0.437	.	.	0.0223642	0.0002	0.0003	0.0002	0.0005	0.0003	0.0002	0	0	0.0008409	130	154602	rs201612562	0.0006	0.0035	0.0005	0.0007	0.0033	0.0005	0.0005	0.0028	0.0027	0.0002	0.0033	0.0005	0.0016	0.0013	0.0006	0.0004	0.0005	0.0007	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.013	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.86255	D	0.000009	0.62929	D	0.114571	1	0.81001	D	.	.	.	1.14	0.38397	T	-7.74	0.95765	D	0.935	0.94668	-0.3380	0.73902	T	0.280	0.65170	T	10	0.0195221	0.00437	T	.	.	.	0.437	0.74164	.	.	0.584736501517	0.58146	0.856246594939591	0.85587	.	.	0.844346821308	0.88757	D	0.56607	0.85555	D	0.117933	0.66163	D	-0.0683742	0.65742	T	0.971576750278473	0.69369	D	0.946205	0.79675	D	0.8229996	0.85423	0.65729964	0.79931	0.8229996	0.85424	0.65729964	0.79931	-11.524	0.82967	D	.	.	0.597	0.70296	P	.;.;.;.	.;.;.;.	5.562741	0.92150	32	0.99906950704780995	0.97726	0.96748	0.70729	D	AEFBI	0.667814	0.63581	D	0.720063401293283	0.80945	7.408779	0.572471631206645	0.72975	5.895083	0.92097638106142	0.26654	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	3.05	3.05	0.34272	7.167000	0.77125	3.884000	0.40256	0.497000	0.22564	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	11.616	0.50348	976	0.04745	.;.;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1	441.68	95	chr12	31091731	.	C	T	441.68	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-1.645e+00;DP=2064;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1259;MLEAC=4;MLEAF=0.100;MQ=48.01;MQRankSum=-5.652e+00;QD=0.79;ReadPosRankSum=-2.792e+00;SOR=0.611	GT:AD:DP:GQ:PL	0/1:116,18:134:63:63,0,3376	16	0	4	1
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	1/1:0,964,0:964:99:32032,2894,0,33692,2991,38516	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	1/1:0,941,0:941:99:31769,2824,0,33321,2913,37777	4	9	7	0
chr12	40486373	40486373	A	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	539	977	6	0	0	6	0.00306122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016521	43	26028	rs12820756	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0045	0.0004	0.0007	0.0010	0.0004	0.0003	0.0007	0.0006	0.0010	0	0.0009	0	0.0005	0.0009	0	0.0001	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09091	690.58	663	chr12	40486373	.	A	C	690.58	.	AC=2;AF=0.091;AN=22;BaseQRankSum=2.88;DP=19211;ExcessHet=0.1072;FS=23.712;InbreedingCoeff=-0.2000;MLEAC=3;MLEAF=0.136;MQ=58.66;MQRankSum=-2.906e+01;QD=0.37;ReadPosRankSum=-7.903e+00;SOR=3.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:904,71:975:99:0|1:40486373_A_C:261,0,37093:40486373	9	0	2	10
chr12	40486382	40486382	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	535	985	2	0	0	2	0.0010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013063	34	26028	rs12818645	0	1.437e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0006	0.0028	0.0005	0.0006	0.0012	0.0004	0.0004	0.0008	0.0007	0.0012	0	0.0009	0	0	0.0005	0	9.407e-05	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1154	1950.09	663	chr12	40486382	.	G	A	1950.09	.	AC=3;AF=0.115;AN=26;BaseQRankSum=1.23;DP=19353;ExcessHet=0.3300;FS=26.737;InbreedingCoeff=-0.2000;MLEAC=4;MLEAF=0.154;MQ=58.58;MQRankSum=-3.039e+01;QD=0.68;ReadPosRankSum=-7.238e+00;SOR=4.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:924,89:1013:99:0|1:40486373_A_C:956,0,38399:40486373	10	0	3	8
chr12	40486392	40486392	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	536	983	3	0	0	3	0.00152362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014215	37	26028	rs1449620235	0	1.779e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0009	0.0036	0.0007	0.0010	0.0018	0.0007	0.0006	0.0011	0.0010	0.0015	0	0.0018	0.0015	0	0.0012	0	0.0002	0.0012	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1154	4295.09	663	chr12	40486392	.	G	A	4295.09	.	AC=3;AF=0.115;AN=26;BaseQRankSum=8.61;DP=19792;ExcessHet=0.3300;FS=37.643;InbreedingCoeff=-0.2000;MLEAC=4;MLEAF=0.154;MQ=58.24;MQRankSum=-3.023e+01;QD=1.50;ReadPosRankSum=-5.598e+00;SOR=4.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:919,109:1028:99:0|1:40486373_A_C:1811,0,38259:40486373	10	0	3	8
chr12	40486395	40486395	C	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	537	982	3	0	0	3	0.00152517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs1172464658	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0011	0.0038	0.0009	0.0012	0.0019	0.0009	0.0008	0.0013	0.0012	0.0018	0	0.0019	0.0016	0	0.0017	0	0.0003	0.0013	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1154	5288.15	663	chr12	40486395	.	C	G	5288.15	.	AC=3;AF=0.115;AN=26;BaseQRankSum=6.92;DP=20196;ExcessHet=0.3300;FS=37.606;InbreedingCoeff=-0.2011;MLEAC=4;MLEAF=0.154;MQ=58.09;MQRankSum=-3.008e+01;QD=1.84;ReadPosRankSum=-4.739e+00;SOR=4.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:920,113:1033:99:0|1:40486373_A_C:1976,0,38289:40486373	10	0	3	8
chr12	40486396	40486396	A	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	536	982	1	0	3	4	0.000508906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1212954565	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0010	0.0036	0.0009	0.0012	0.0018	0.0008	0.0007	0.0013	0.0011	0.0017	0	0.0018	0.0015	0	0.0015	0	0.0003	0.0011	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1154	5934.02	663	chr12	40486396	.	A	T	5934.02	.	AC=3;AF=0.115;AN=26;BaseQRankSum=1.09;DP=20207;ExcessHet=0.3300;FS=33.389;InbreedingCoeff=-0.2000;MLEAC=4;MLEAF=0.154;MQ=57.99;MQRankSum=-3.010e+01;QD=2.07;ReadPosRankSum=-4.404e+00;SOR=3.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:915,121:1036:99:0|1:40486373_A_C:2326,0,38055:40486373	10	0	3	8
chr12	40486405	40486405	-	CTAGGGTGACAGAGAGTACTGGACTA	exonic	MUC19	.	unknown	UNKNOWN,	.	.	561	947	5	0	9	14	0.00263296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215974695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0062	0.0010	0.0005	0.0033	0.0005	0.0005	0.0006	0.0003	0.0007	0	0.0013	0.0017	0	0	0	0.0008	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	8717.76	817	chr12	40486405	.	G	A,GCTAGGGTGACAGAGAGTACTGGACTA	8717.76	.	AC=4,1;AF=0.222,0.056;AN=18;BaseQRankSum=4.98;DP=21353;ExcessHet=1.1607;FS=43.706;InbreedingCoeff=-0.3381;MLEAC=6,2;MLEAF=0.333,0.111;MQ=57.88;MQRankSum=-2.929e+01;QD=2.24;ReadPosRankSum=-4.094e+00;SOR=4.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:922,147,0:1069:99:0|1:40486373_A_C:3386,0,38271,6162,38713,44875:40486373	4	0	4	12
chr12	40486500	40486500	C	A	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	0.09524	1717.24	813	chr12	40486500	.	C	A,*	1717.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.871;DP=21584;ExcessHet=0.6776;FS=10.912;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=56.54;MQRankSum=4.74;QD=0.36;ReadPosRankSum=-4.885e+00;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:625,0,491:1116:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:18496,20377,46599,0,26222,24626:40486484	17	0	1	0
chr12	40486500	40486500	C	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1717.24	813	chr12	40486500	.	C	A,*	1717.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.871;DP=21584;ExcessHet=0.6776;FS=10.912;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=56.54;MQRankSum=4.74;QD=0.36;ReadPosRankSum=-4.885e+00;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:625,0,491:1116:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:18496,20377,46599,0,26222,24626:40486484	17	0	1	0
chr12	40486502	40486502	G	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.394e-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	0.09524	4774.24	813	chr12	40486502	.	G	T,*	4774.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=1.20;DP=21795;ExcessHet=0.6776;FS=6.160;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=59.61;MQRankSum=2.70;QD=0.89;ReadPosRankSum=-1.014e+01;SOR=1.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:625,0,491:1116:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:18496,20377,46599,0,26222,24626:40486484	17	0	1	0
chr12	40486502	40486502	G	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	4774.24	813	chr12	40486502	.	G	T,*	4774.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=1.20;DP=21795;ExcessHet=0.6776;FS=6.160;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=59.61;MQRankSum=2.70;QD=0.89;ReadPosRankSum=-1.014e+01;SOR=1.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:625,0,491:1116:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:18496,20377,46599,0,26222,24626:40486484	17	0	1	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|3:581,0,1,490:1072:99:1|0:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:18791,20478,45119,20272,44844,44964,0,24551,24329,23200:40486484	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|3:581,0,1,490:1072:99:1|0:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:18791,20478,45119,20272,44844,44964,0,24551,24329,23200:40486484	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|2:581,1,490:1072:99:1|0:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:18776,20230,44638,0,24310,23291:40486484	3	0	5	10
chr12	40486574	40486574	G	0	exonic	MUC19	.	.	.	.	.	621	744	27	1	129	158	0.0191167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1071	12193.03	853	chr12	40486574	.	G	*,A	12193.03	.	AC=2,1;AF=0.071,0.036;AN=28;BaseQRankSum=1.14;DP=23730;ExcessHet=0.3300;FS=9.074;InbreedingCoeff=-0.1831;MLEAC=3,1;MLEAF=0.107,0.036;MQ=58.09;MQRankSum=-8.390e-01;QD=2.78;ReadPosRankSum=1.57;SOR=1.265	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:997,411,4:1414:99:.:.:14167,0,41779,17099,31247,46257	11	0	2	7
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	0/1:1050,89:1140:99:.:.:391,0,44392	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|1:1064,89:1153:99:0|1:40487347_G_*:396,0,44390:40487347	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|1:1055,89:1144:99:0|1:40487347_G_*:427,0,44021:40487347	13	0	6	2
chr12	40487370	40487370	C	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	530	937	55	0	0	55	0.0285122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434790702	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0028	0.0002	0.0002	0.0003	0.0001	0.0001	9.092e-05	6.022e-05	0.0001	0	0.0003	0.0003	0	0.0002	0	0.0001	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	0.07895	6137.83	783	chr12	40487370	.	C	G	6137.83	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.891e+00;DP=22823;ExcessHet=0.3300;FS=24.447;InbreedingCoeff=-0.1053;MLEAC=3;MLEAF=0.079;MQ=57.01;MQRankSum=-2.595e+01;QD=1.57;ReadPosRankSum=5.16;SOR=3.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1058,89:1147:99:0|1:40487347_G_*:419,0,44150:40487347	16	0	3	2
chr12	40487373	40487373	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	536	929	57	0	0	57	0.029765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1199349600	0	5.474e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0029	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	8.547e-05	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0002	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	0.07895	6585.83	783	chr12	40487373	.	A	G	6585.83	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.50;DP=22766;ExcessHet=0.3300;FS=24.447;InbreedingCoeff=-0.1053;MLEAC=3;MLEAF=0.079;MQ=56.97;MQRankSum=-2.636e+01;QD=1.69;ReadPosRankSum=4.60;SOR=3.313	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1030,89:1119:99:0|1:40487347_G_*:504,0,42974:40487347	16	0	3	2
chr12	40487375	40487375	G	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	533	933	56	0	0	56	0.0291363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362941780	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0029	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	7.934e-05	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0002	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	0.07895	7211.83	783	chr12	40487375	.	G	C	7211.83	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.357e+00;DP=22744;ExcessHet=0.3300;FS=24.462;InbreedingCoeff=-0.1053;MLEAC=3;MLEAF=0.079;MQ=56.88;MQRankSum=-2.661e+01;QD=1.86;ReadPosRankSum=4.55;SOR=3.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1012,89:1101:99:0|1:40487347_G_*:560,0,42217:40487347	16	0	3	2
chr12	40487377	40487377	C	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	537	927	58	0	0	58	0.0303347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1471742152	0	3.832e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0031	0.0002	0.0002	0.0005	0.0002	0.0001	0.0002	0.0001	0.0001	0	0.0004	0.0003	0.0002	0.0002	0	0.0002	0.0020	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	0.07895	7556.83	783	chr12	40487377	.	C	G	7556.83	.	AC=3;AF=0.079;AN=38;BaseQRankSum=4.58;DP=22964;ExcessHet=0.3300;FS=22.540;InbreedingCoeff=-0.1053;MLEAC=3;MLEAF=0.079;MQ=56.82;MQRankSum=-2.697e+01;QD=1.95;ReadPosRankSum=3.94;SOR=2.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1006,89:1095:99:0|1:40487347_G_*:578,0,41941:40487347	16	0	3	2
chr12	40487388	40487388	C	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	532	936	54	0	0	54	0.0280374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs552463164	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0030	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0003	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	0.08333	7873.97	783	chr12	40487388	.	C	G	7873.97	.	AC=3;AF=0.083;AN=36;BaseQRankSum=1.57;DP=22906;ExcessHet=0.3300;FS=22.540;InbreedingCoeff=-0.1200;MLEAC=3;MLEAF=0.083;MQ=56.89;MQRankSum=-2.874e+01;QD=2.03;ReadPosRankSum=3.90;SOR=2.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1014,89:1103:99:0|1:40487347_G_*:555,0,42276:40487347	15	0	3	3
chr12	40487403	40487403	G	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	531	933	58	0	0	58	0.0301455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1387815853	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0030	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0.0001	0	0.0005	0.0003	0	0.0002	0	0.0003	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	0.09375	11261.55	783	chr12	40487403	.	G	T	11261.55	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-7.600e+00;DP=23102;ExcessHet=0.3300;FS=12.822;InbreedingCoeff=-0.1507;MLEAC=4;MLEAF=0.125;MQ=56.51;MQRankSum=-2.985e+01;QD=2.89;ReadPosRankSum=0.192;SOR=1.942	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:989,91:1081:99:.:.:668,0,29514	13	0	3	5
chr12	40487418	40487418	G	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	527	933	62	0	0	62	0.0321577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796103026	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0031	0.0005	0.0004	0.0009	0.0004	0.0004	0.0005	0.0004	0.0002	0	0.0009	0.0003	0	0.0004	0	0.0006	0.0020	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	0.1	14109.93	783	chr12	40487418	.	G	C	14109.93	.	AC=3;AF=0.100;AN=30;BaseQRankSum=-6.242e+00;DP=23264;ExcessHet=0.3300;FS=6.289;InbreedingCoeff=-0.1667;MLEAC=4;MLEAF=0.133;MQ=55.98;MQRankSum=-3.106e+01;QD=3.60;ReadPosRankSum=-4.119e+00;SOR=1.329	GT:AD:DP:GQ:PL	0/1:990,88:1078:99:591,0,41273	12	0	3	6
chr12	40487421	40487421	-	CCCATCAGCTGAAGTGACAGGGCTACCTGGAGTGTCAGCTGGGGTGACAGGGAC	exonic	MUC19	.	unknown	UNKNOWN,	.	.	528	938	56	0	0	56	0.0289855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0030	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	0.0002	0	0.0007	0.0006	0	0.0003	0	0.0005	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	14575.68	783	chr12	40487421	.	G	GCCCATCAGCTGAAGTGACAGGGCTACCTGGAGTGTCAGCTGGGGTGACAGGGAC	14575.68	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-6.431e+00;DP=23203;ExcessHet=0.3300;FS=3.683;InbreedingCoeff=-0.0909;MLEAC=3;MLEAF=0.075;MQ=55.74;MQRankSum=-3.119e+01;QD=3.66;ReadPosRankSum=-5.397e+00;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:992,81:1073:99:0|1:40487347_G_*:292,0,41394:40487347	17	0	3	1
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	0/1:992,0,0,0:992:49:.:.:3054,0,41227,49,41202,41218,6047,41617,41651,47654	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	0/1:992,0,0,0:992:49:.:.:3054,0,41227,49,41202,41218,6047,41617,41651,47654	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	0/1:988,0,0:988:44:.:.:2124,0,40219,44,40254,40291	3	0	6	3
chr12	40489087	40489087	C	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	611	871	12	28	0	68	0.0375691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1197637289	0	1.536e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0074	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0001	0.0002	0	0.0004	0.0004	0	0.0004	0	0.0003	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	192.98	748	chr12	40489087	.	C	G	192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=10813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0204;MLEAC=1;MLEAF=0.024;MQ=37.10;MQRankSum=-1.383e+00;QD=32.16;ReadPosRankSum=-5.240e-01;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,5:6:27:0|1:40489054_G_T:207,0,27:40489054	20	0	1	0
chr12	40489098	40489098	T	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	624	863	11	24	0	59	0.0330532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs186762951	0	9.509e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0021	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	0.0002	0	0.0005	0	0	0.0003	0	7.71e-05	0.0006	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	108.98	748	chr12	40489098	.	T	C	108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=10811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0234;MLEAC=1;MLEAF=0.024;MQ=42.94;MQRankSum=-1.150e+00;QD=27.24;ReadPosRankSum=-1.150e+00;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,3:4:33:0|1:40489054_G_T:123,0,33:40489054	20	0	1	0
chr12	40489579	40489788	TGGACTATCAACTGGGGTGACAGGGATAGCTGGACACTCAGCTGCGGTGACAGGGATAACTAGACCATCAGCTGGAGTGACAGGGACAACCACAGTATCAGCTGGAGTAACAGGGACAATTGGACTATCAGCTGAAGCAACAGGGATAACTCTACCATCAGCTGGGGTGACAGAGACAACTGGACTATCTGCTGGAGTGACAGAAACAAT	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	559	962	1	0	0	1	0.000519481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.948e-06	4.802e-06	4.602e-06	5.349e-06	5.409e-06	1.16e-06	7.8e-07	1.27e-06	8.5e-07	0	0	0	0	0	0	5.409e-06	0	0	0	3.352e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	1388.29	703	chr12	40489578	.	CTGGACTATCAACTGGGGTGACAGGGATAGCTGGACACTCAGCTGCGGTGACAGGGATAACTAGACCATCAGCTGGAGTGACAGGGACAACCACAGTATCAGCTGGAGTAACAGGGACAATTGGACTATCAGCTGAAGCAACAGGGATAACTCTACCATCAGCTGGGGTGACAGAGACAACTGGACTATCTGCTGGAGTGACAGAAACAAT	C	1388.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.58;DP=11681;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=44.51;MQRankSum=-5.228e+00;QD=9.92;ReadPosRankSum=-8.878e+00;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,86:140:99:0|1:40489578_CTGGACTATCAACTGGGGTGACAGGGATAGCTGGACACTCAGCTGCGGTGACAGGGATAACTAGACCATCAGCTGGAGTGACAGGGACAACCACAGTATCAGCTGGAGTAACAGGGACAATTGGACTATCAGCTGAAGCAACAGGGATAACTCTACCATCAGCTGGGGTGACAGAGACAACTGGACTATCTGCTGGAGTGACAGAAACAAT_C:1402,0,1700:40489578	19	0	1	1
chr12	40489602	40489602	G	0	exonic	MUC19	.	.	.	.	.	586	533	254	148	1	551	0.340347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	89288.66	720	chr12	40489602	.	G	A,*	89288.66	.	AC=6,1;AF=0.150,0.025;AN=40;BaseQRankSum=4.13;DP=11489;ExcessHet=2.5830;FS=0.517;InbreedingCoeff=-0.2174;MLEAC=6,1;MLEAF=0.150,0.025;MQ=58.87;MQRankSum=1.10;QD=18.58;ReadPosRankSum=3.71;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:51,1,77:129:99:1|0:40489578_CTGGACTATCAACTGGGGTGACAGGGATAGCTGGACACTCAGCTGCGGTGACAGGGATAACTAGACCATCAGCTGGAGTGACAGGGACAACCACAGTATCAGCTGGAGTAACAGGGACAATTGGACTATCAGCTGAAGCAACAGGGATAACTCTACCATCAGCTGGGGTGACAGAGACAACTGGACTATCTGCTGGAGTGACAGAAACAAT_C:1359,1533,3276,0,1381,1641:40489578	13	0	6	1
chr12	40511000	40511000	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	543	846	132	1	0	134	0.0733844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1334958236	0	2.394e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.398e-05	0.0059	1.325e-05	5.579e-05	0.0002	1.294e-05	8.22e-06	.	.	2.479e-05	0	6.864e-05	0	0	9.885e-05	0	0	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	352.11	39	chr12	40511000	.	A	G	352.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.47;DP=2901;ExcessHet=0.1072;FS=20.470;InbreedingCoeff=-0.0501;MLEAC=2;MLEAF=0.048;MQ=58.89;MQRankSum=-1.518e+01;QD=0.72;ReadPosRankSum=-4.000e+00;SOR=3.933	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:223,24:247:99:0|1:40510979_A_G:337,0,9210:40510979	19	0	2	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|1:49,23,0:72:99:0|1:52949249_G_A:818,0,1988,966,2058,3023:52949249	0	0	20	0
chr12	54363394	54363394	G	A	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.C458T:p.A153V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	1.0	D	0.991	D	0.000	D	1.000	D	0.89	L	-0.52	T	-0.552	T	0.368	T	0.759	4.080	21.0	5.02	2.496	2.102	16.201	0.403	0.0237397125168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345501624	2.755e-06	2.742e-06	1.372e-06	4.151e-06	3.627e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.627e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.011	0.64786	D	1.0	0.90584	D	0.991	0.79672	D	0.000478	0.44119	D	0.088981	0.999998	0.58761	D	1.465	0.36909	L	-0.52	0.70717	T	0.23	0.04613	N	0.196	0.21580	-0.5516	0.66726	T	0.368	0.72788	T	10	0.3502603	0.51901	T	0.02374	0.46713	T	0.403	0.71636	0.571	0.69431	0.809007091605	0.80721	0.2760080514280935	0.27513	0.162976829088	0.18394	0.490764260292	0.37544	T	0.005184	0.04625	T	0.118655	0.66237	D	-0.0673364	0.65815	T	0.74129194021225	0.42806	D	0.725127	0.33902	T	0.11525833	0.27201	0.15893412	0.37092	0.11525833	0.27201	0.15893412	0.37091	-4.201	0.26766	T	.	.	0.081	0.08224	B	.;.	.;.	3.791423	0.54572	23.5	0.99915949351705269	0.98379	0.88390	0.48296	D	AEFBI	0.518746	0.54431	D	0.36141034936137	0.59345	4.113099	0.384589246084373	0.60614	4.250998	0.999999998215978	0.74766	0.497415	0.19182	0	0.541556	0.11502	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.02	5.02	0.66742	1.850000	0.38968	5.121000	0.47587	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.822000	0.38733	0.0:0.0:1.0:0.0	16.201	0.81895	686	0.59327	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3125	972.57	59	chr12	54363394	.	G	A	972.57	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-3.390e+00;DP=1918;ExcessHet=6.1002;FS=237.561;InbreedingCoeff=-0.4326;MLEAC=12;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.94;ReadPosRankSum=0.851;SOR=11.822	GT:AD:DP:GQ:PL	0/1:74,25:99:68:68,0,1581	6	0	10	5
chr12	56716773	56716773	G	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.C4757G:p.T1586S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	B	0.014	B	.	.	1.000	N	.	.	0.86	T	-1.034	T	0.064	T	0.05	0.296	5.604	0.899	-0.131	1.411	4.156	0.039	0.00305659900259	.	.	9.816e-06	0	0	0	0	1.699e-05	0	0	6.5e-06	1	154602	rs767225318	1.64e-06	2.736e-06	1.602e-06	1.679e-06	2.057e-06	2.7e-07	1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.057e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.991	0.02359	T	0.068	0.23728	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	.	.	.	0.86	0.46777	T	0.5	0.02945	N	0.101	0.08366	-1.0337	0.19268	T	0.064	0.26420	T	7	0.065919876	0.08966	T	0.003057	0.06606	T	0.039	0.10176	0.258	0.20002	0.143124449307	0.13826	.	.	.	.	.	.	.	0.054013	0.29605	T	-0.338711	0.05478	T	-0.678114	0.07099	T	0.0160011250896684	0.00381	T	0.29797	0.05545	T	0.088434465	0.20628	0.04913326	0.07443	0.088434465	0.20628	0.04913326	0.07442	-6.613	0.51153	T	.	.	0.185	0.40065	B	.	.	0.222103	0.06044	2.485	0.22551627331878571	0.00912	0.30145	0.24006	N	AEFDBHCI	0.103815	0.20788	N	-0.895325869115206	0.10953	0.5260411	-0.976878655503586	0.10306	0.5182001	0.999970967611248	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	0.899	0.18403	0.283000	0.18605	0.707000	0.20898	0.520000	0.23804	0.000000	0.06391	0.034000	0.21380	0.175000	0.21139	0.2912:0.0:0.546:0.1628	4.156	0.09728	45	0.97767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	801.6	63	chr12	56716773	.	G	C	801.6	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-3.814e+00;DP=1566;ExcessHet=6.1002;FS=143.092;InbreedingCoeff=-0.3330;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=1.05;ReadPosRankSum=0.671;SOR=10.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,8:79:21:.:.:21,0,2693	11	0	10	0
chr12	56716774	56716774	T	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.A4756G:p.T1586A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	B	0.006	B	.	.	1.000	N	.	.	0.87	T	-1.019	T	0.052	T	0.058	0.464	6.518	-1.65	0.024	-0.395	4.844	0.003	0.00228384647801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.672e-06	0.0001	1.634e-06	1.712e-06	2.097e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.097e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.719	0.05363	T	0.01	0.15535	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	.	.	.	0.87	0.46412	T	0.47	0.03090	N	0.057	0.02861	-1.0187	0.24139	T	0.052	0.22269	T	7	0.052386343	0.05265	T	0.002284	0.04369	T	0.003	0.00094	0.231	0.15855	0.0551355673512	0.04727	.	.	.	.	.	.	.	0.05443	0.29723	T	-0.317768	0.07082	T	-0.694228	0.06147	T	0.0645078461183593	0.07859	T	0.325967	0.06723	T	0.04106803	0.05981	0.041717745	0.04806	0.04106803	0.05980	0.041717745	0.04805	-6.846	0.52900	T	.	.	0.134	0.29032	B	.	.	-0.114785	0.03555	0.684	0.19066523652983547	0.00627	0.13174	0.17706	N	AEFDBHCI	0.058886	0.11081	N	-1.18737061141861	0.05191	0.2360293	-1.27587405181014	0.04759	0.2252294	0.999971354431567	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	-1.65	0.07849	-3.807000	0.00406	-0.245000	0.10556	0.514000	0.23422	0.000000	0.06391	0.019000	0.20708	0.178000	0.21234	0.1834:0.5085:0.0:0.3081	4.844	0.12867	45	0.97767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	83.5	65	chr12	56716774	.	T	C	83.5	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-9.180e-01;DP=1431;ExcessHet=0.6776;FS=89.750;InbreedingCoeff=-0.0938;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.28;ReadPosRankSum=0.466;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:72,8:80:1:.:.:1,0,2731	17	0	4	0
chr12	57796293	57796293	G	T	exonic	TSFM	.	nonsynonymous SNV	TSFM:NM_005726:exon6:c.G688T:p.V230L	Combined oxidative phosphorylation deficiency 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	333962	not_provided|See_cases|Inborn_genetic_diseases|Fatal_mitochondrial_disease_due_to_combined_oxidative_phosphorylation_defect_type_3	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012512,MedGen:C1864840,OMIM:610505,Orphanet:168566	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.45	T	0.0	B	0.004	B	0.106	N	1.000	N	-0.205	N	.	.	-1.031	T	0.034	T	0.134	1.196	9.859	3.22	0.700	1.145	4.317	0.024	0.00314008538647	0.0006	.	0.0004	0.0002	0	0	0	0.0008	0	0	0.0003752	58	154602	rs151248026	0.0007	0.0007	0.0008	0.0007	0.0009	0.0007	0.0007	0.0009	0.0008	5.978e-05	0.0001	3.842e-05	0	0	0	0.0009	0.0005	9.303e-05	0.0003	0.0003	0.0003	0.0004	0.0006	0.0003	0.0002	0.0005	0.0004	0.0001	0	6.543e-05	0	0	0	0	0.0006	0.0005	0	0.295	0.15458	T	0.488	0.12386	T	0.0	0.02946	B	0.0	0.10090	B	0.105981	0.19635	N	0.534254	1	0.81001	D	0.27	0.09956	N	.	.	.	-0.32	0.12283	N	0.127	0.23758	-1.0312	0.20066	T	0.034	0.14464	T	9	0.03452897	0.01664	T	0.00314	0.06845	T	0.024	0.04979	0.493	0.58048	0.299427821978	0.29548	0.33191199273396155	0.33104	0.0539204389658	0.05956	0.354678720236	0.18609	T	0.065035	0.32587	T	-0.463459	0.00935	T	-0.532418	0.19047	T	0.00795782732764628	0.00094	T	0.536546	0.18022	T	0.023983853	0.01186	0.031274624	0.01694	0.023983853	0.01186	0.031274624	0.01694	-3.323	0.17110	T	.	.	0.109	0.20663	B	.;.	.;.	1.393997	0.18068	13.53	0.9035365563106702	0.19618	0.83221	0.42356	D	AEFBI	0.412551	0.48258	N	-0.73035875237626	0.15171	0.7623152	-0.536424818794438	0.21167	1.143805	0.486718192887972	0.20829	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.1	3.22	0.36041	1.618000	0.36565	3.003000	0.35929	-0.708000	0.03965	0.970000	0.34288	1.000000	0.68203	0.861000	0.40843	0.2518:0.1718:0.5764:0.0	4.317	0.10438	193	0.92507	Translation elongation factor EFTs/EF1B, dimerisation;.	.	.	.	.	.	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	4185.08	36	chr12	57796293	.	G	T	4185.08	.	AC=2;AF=0.048;AN=42;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.47;SOR=0.905	GT:AD:DP:GQ:PL	1/1:0,133:133:99:4213,399,0	20	1	0	0
chr12	64094951	64094951	C	T	exonic	SRGAP1	.	nonsynonymous SNV	SRGAP1:NM_001346201:exon13:c.C1490T:p.P497L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.004	U	1.000	D	4.66	H	-1.67	D	1.041	D	0.862	D	0.965	4.754	26.6	5.05	2.506	7.731	18.778	0.871	0.477149508009	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1321506999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.576e-06	6.569e-06	0	1.346e-05	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.003518	0.34847	U	0.000000	1	0.81001	D	5.245	0.99966	H	-1.67	0.82806	D	-8.91	0.97942	D	0.994	0.99899	1.041	0.97931	D	0.862	0.95394	D	9	0.9766516	0.97462	D	0.47715	0.94780	D	0.871	0.96133	0.818	0.93195	0.917048781376	0.91621	0.9220230046232393	0.92179	0.853553387311	0.68658	0.808189690113	0.83214	D	0.658826	0.89736	D	0.445754	0.92290	D	0.402518	0.92194	D	0.999464809894562	0.97510	D	0.983302	0.94339	D	0.581759	0.71704	0.55074006	0.74023	0.581759	0.71705	0.55074006	0.74024	-10.144	0.74769	D	.	.	0.971	0.89526	P	.;.;.	.;.;.	5.271034	0.88506	29.6	0.99810721164317762	0.89442	0.99127	0.91622	D	AEFBI	0.884659	0.81453	D	0.985702751092392	0.95289	13.47936	0.859280216376727	0.93545	12.11502	1.0	0.98316	0.615465	0.37627	0	0.573888	0.26702	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.05	5.05	0.67566	7.842000	0.85116	7.707000	0.66598	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	18.778	0.91883	917	0.20147	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	.	.	.	.	.	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	0.1429	122.14	41	chr12	64094951	.	C	T	122.14	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-2.450e+00;DP=926;ExcessHet=1.7912;FS=99.434;InbreedingCoeff=-0.1390;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=-6.800e-02;SOR=9.736	GT:AD:DP:GQ:PL	0/1:30,9:39:99:119,0,468	15	0	6	0
chr12	70353915	70353915	A	-	exonic	CNOT2	.	nonframeshift deletion	CNOT2:NM_001199303:exon16:c.1623delA:p.X541X	.	.	869	502	37	12	102	163	0.057277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2294.56	31	chr12	70353913	.	TAA	T,TA,TAAA	2294.56	.	AC=9,8,4;AF=0.214,0.190,0.095;AN=42;BaseQRankSum=0.709;DP=1081;ExcessHet=11.2363;FS=0.442;InbreedingCoeff=-0.4297;MLEAC=8,8,3;MLEAF=0.190,0.190,0.071;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-2.490e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/1:1,6,0,0:8:22:124,0,22,144,37,213,144,37,213,213	3	0	8	0
chr12	70353915	70353915	-	A	exonic	CNOT2	.	nonframeshift insertion	CNOT2:NM_001199303:exon16:c.1623dupA:p.X541delinsX	.	.	869	502	37	12	102	163	0.057277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2294.56	31	chr12	70353913	.	TAA	T,TA,TAAA	2294.56	.	AC=9,8,4;AF=0.214,0.190,0.095;AN=42;BaseQRankSum=0.709;DP=1081;ExcessHet=11.2363;FS=0.442;InbreedingCoeff=-0.4297;MLEAC=8,8,3;MLEAF=0.190,0.190,0.071;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-2.490e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/1:1,6,0,0:8:22:124,0,22,144,37,213,144,37,213,213	3	0	8	0
chr12	70635944	70635944	G	A	exonic	PTPRB	.	nonsynonymous SNV	PTPRB:NM_001109754:exon2:c.C178T:p.L60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.777	P	0.396	B	.	.	1.000	D	0.55	N	0.89	T	-1.071	T	0.085	T	0.103	3.967	20.3	5.15	1.539	4.327	14.440	0.034	0.0214511850333	8e-05	.	8.491e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs372428385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.567e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.171	0.91255	T	0.141	0.47097	T	0.069	0.33860	B	0.063	0.32896	B	.	.	.	.	0.949216	0.26544	N	.	.	.	0.89	0.45636	T	-0.76	0.25770	N	0.274	0.33469	-1.0714	0.09108	T	0.085	0.33099	T	9	0.1482369	0.28075	T	0.021451	0.44220	T	0.034	0.08419	.	.	0.176862962021	0.17281	0.6354880301755313	0.63482	0.53492471946	0.50878	0.479680240154	0.36012	T	0.059314	0.33423	T	-0.220665	0.17902	T	-0.554746	0.16873	T	0.932623505592346	0.59881	D	0.69863	0.31478	T	.	.	.	.	.	.	.	.	-5.511	0.41971	T	.	.	0.473	0.64929	A	.;.;.;.	.;.;.;.	3.602507	0.50895	23.0	0.99859623691552357	0.93820	0.85685	0.44845	D	AEFDBHCI	0.862088	0.78030	D	-0.0241969775281813	0.40761	2.42629	0.155470530023144	0.47434	2.973584	0.999999999861969	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.00508	0.00061	3	.	.	6.04	5.15	0.70287	4.423000	0.59610	6.674000	0.56288	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.0711:0.0:0.9289:0.0	14.440	0.66887	670	0.60992	.;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	32.1	46	chr12	70635944	.	G	A	32.1	.	AC=4;AF=0.143;AN=28;BaseQRankSum=-3.245e+00;DP=1302;ExcessHet=0.6776;FS=145.640;InbreedingCoeff=-0.2101;MLEAC=3;MLEAF=0.107;MQ=60.00;MQRankSum=0.00;QD=0.11;ReadPosRankSum=1.01;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,16:85:5:.:.:5,0,1151	10	0	4	7
chr12	71535175	71535175	C	A	exonic	LGR5	.	nonsynonymous SNV	LGR5:NM_001277226:exon4:c.C417A:p.S139R	.	.	.	.	.	.	.	.	.	.	.	3280446	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.992	D	0.924	D	0.000	D	0.885	D	1.665	L	2.38	T	-0.547	T	0.267	T	0.695	3.284	17.03	3.35	1.478	0.108	9.839	0.184	0.0296604558512	.	.	8.254e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs779090996	1.31e-05	1.71e-05	9.62e-06	1.662e-05	3.008e-05	8.38e-06	6.75e-06	8.6e-06	6.96e-06	3.008e-05	0	0	0	0	0	1.453e-05	1.666e-05	1.163e-05	1.972e-05	2.627e-05	2.57e-05	1.345e-05	2.939e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.939e-05	0	0	0.192	0.24183	T	0.129	0.55759	T	0.992	0.64738	D	0.924	0.65913	D	0.000001	0.84330	D	0.000000	0.885084	0.35831	D	0.95	0.23787	L	2.38	0.60734	T	-2.63	0.61865	D	0.605	0.67304	-0.5470	0.66900	T	0.267	0.63855	T	10	0.5863887	0.66134	D	0.02966	0.52125	D	0.184	0.45763	0.482	0.56302	0.842777603526	0.84127	0.4800674328998772	0.47926	0.223555790711	0.24879	0.557286262512	0.46884	T	0.144253	0.48078	T	-0.0410765	0.45789	T	-0.19615	0.55010	T	0.930315673351288	0.59494	D	0.894311	0.63332	D	0.5998284	0.72682	0.42883787	0.66584	0.5998284	0.72683	0.42883787	0.66585	-10.851	0.78834	D	.	.	0.521	0.69419	A	.;.;.	.;.;.	3.149169	0.42619	21.6	0.997566594959443	0.84694	0.79981	0.39744	D	AEFBI	0.307978	0.41470	N	0.359692127579196	0.59252	4.103243	0.332577717823687	0.57463	3.912183	0.947867651521437	0.27773	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.55	3.35	0.37468	0.151000	0.16101	-0.026000	0.12859	0.599000	0.40250	0.995000	0.38783	0.772000	0.26708	0.989000	0.64315	0.0:0.7487:0.0:0.2513	9.839	0.40160	850	0.35610	.;.;.	.	.	.	.	.	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	856.98	35	chr12	71535175	.	C	A	856.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.083;DP=781;ExcessHet=0.0000;FS=0.890;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.58;ReadPosRankSum=-2.379e+00;SOR=0.924	GT:AD:DP:GQ:PL	0/1:37,37:74:99:871,0,857	20	0	1	0
chr12	75293265	75293265	-	TATTTGAT	exonic	CAPS2	.	stopgain	CAPS2:NM_001355026:exon8:c.792_793insATCAAATA:p.A265Ifs*3	.	.	438	1072	12	0	0	12	0.00556586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0045	0.00299521	0.0058	0.0008	0.0029	0.0001	0.0112	0.0068	0.0099	0.0074	0.0003458	9	26028	rs535656542	0.0062	0.0064	0.0061	0.0064	0.0065	0.0061	0.0061	0.0064	0.0063	0.0008	0.0027	0.0030	0	0.0127	0.0030	0.0065	0.0060	0.0065	0.0051	0.0051	0.0053	0.0049	0.0072	0.0048	0.0047	0.0067	0.0065	0.0011	0.0022	0.0057	0.0035	0.0004	0.0090	0	0.0072	0.0076	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1792.94	34	chr12	75293265	.	C	CTATTTGAT	1792.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.58;ReadPosRankSum=-1.780e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/1:55,47:102:99:1807,0,2149	20	0	1	0
chr12	77029839	77029839	T	C	exonic	E2F7	.	nonsynonymous SNV	E2F7:NM_203394:exon10:c.A1876G:p.M626V,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.002	B	0.007	B	0.084	N	0.918	N	1.445	L	0.51	T	-1.095	T	0.032	T	0.113	0.100	4.539	0.203	0.422	-0.480	1.015	0.126	.	.	0.00838658	0.0029	0.0002	8.637e-05	0.0339	0	0.0004	0	0.0022	0.0028784	445	154602	rs3829295	0.0011	0.0011	0.0010	0.0011	0.0265	0.0010	0.0010	0.0252	0.0247	0	0.0001	0.0047	0.0265	0	0	5.756e-05	0.0029	0.0020	0.0016	0.0016	0.0013	0.0019	0.0357	0.0014	0.0013	0.0315	0.0299	0.0001	0	0.0002	0.0052	0.0357	0	0	0.0001	0.0014	0.0037	0.779	0.08384	T	1.0	0.02943	T	0.0	0.09854	B	0.001	0.12992	B	0.083969	0.20723	N	0.538070	0.917642	0.27367	N	1.445	0.36358	L	0.51	0.55439	T	-0.16	0.15578	N	0.071	0.04913	-1.0954	0.04695	T	0.032	0.13811	T	10	0.0026804209	0.00041	T	.	.	.	0.126	0.34673	.	.	0.374434639691	0.37057	0.17378055355317065	0.17298	0.300266101794	0.32389	0.315513253212	0.12742	T	0.024626	0.18572	T	-0.572474	0.00214	T	-0.568636	0.15575	T	0.00586829145623874	0.00064	T	0.752925	0.38803	T	0.025937805	0.01589	0.042623688	0.05121	0.025937805	0.01589	0.042623688	0.05120	-1.425	0.01618	T	.	.	0.079	0.29833	B	.;.;.	.;.;.	-0.501669	0.01862	0.151	0.48835637387849345	0.04108	0.12717	0.17438	N	AEFBI	0.049303	0.08503	N	-0.790009752830221	0.13569	0.6694293	-0.748569685454549	0.15757	0.8303138	0.646639413345136	0.22113	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.69	0.203	0.14472	-0.472000	0.06702	-1.751000	0.04793	0.665000	0.62972	0.012000	0.18695	0.000000	0.08366	0.209000	0.22154	0.1391:0.2744:0.2303:0.3562	1.015	0.01410	672	0.60758	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2089.98	35	chr12	77029839	.	T	C	2089.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.150e-01;DP=876;ExcessHet=0.0000;FS=2.592;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=-1.165e+00;SOR=0.574	GT:AD:DP:GQ:PL	0/1:87,89:176:99:2104,0,2196	20	0	1	0
chr12	95282384	95282385	CA	-	exonic	VEZT	.	frameshift deletion	VEZT:NM_001352101:exon6:c.636_637del:p.N213Ffs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	159.94	48	chr12	95282383	.	CCA	C	159.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.879e+00;DP=949;ExcessHet=0.0000;FS=53.449;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.26;ReadPosRankSum=2.52;SOR=6.110	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,21:127:99:0|1:95282383_CCA_C:174,0,4128:95282383	20	0	1	0
chr12	95282386	95282386	-	GG	exonic	VEZT	.	frameshift insertion	VEZT:NM_001352101:exon6:c.638_639insGG:p.N213Kfs*22	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	160.29	39	chr12	95282386	.	A	AGG	160.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.747e+00;DP=1298;ExcessHet=0.0000;FS=53.449;InbreedingCoeff=-0.0372;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=1.26;ReadPosRankSum=2.48;SOR=6.110	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,21:127:99:0|1:95282383_CCA_C:174,0,4128:95282383	19	0	1	1
chr12	101372939	101372939	T	G	exonic	UTP20	.	nonsynonymous SNV	UTP20:NM_014503:exon52:c.T6854G:p.L2285W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.99	D	0.000	D	1.000	D	2.595	M	-0.65	T	0.242	D	0.565	D	0.923	4.687	25.9	5.77	2.196	6.581	16.084	0.741	0.401704943399	.	.	8.256e-05	9.681e-05	0	0	0	3.003e-05	0	0.0004	6.47e-05	10	154602	rs762377711	3.489e-05	3.489e-05	1.634e-05	5.363e-05	0.0005	2.697e-05	2.438e-05	0.0004	0.0003	0	0	0	0	0	0	2.698e-06	9.934e-05	0.0005	1.313e-05	1.312e-05	0	2.685e-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	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.99	0.78936	D	0.000018	0.62929	D	0.072450	0.99999	0.58761	D	3.3	0.90472	M	-0.65	0.72237	T	-4.6	0.78976	D	0.85	0.84609	0.242	0.86620	D	0.565	0.84211	D	10	0.80886	0.80193	D	0.401705	0.93411	D	0.741	0.91026	0.489	0.57415	0.905639851255	0.90470	0.7992651528131759	0.79879	0.70520438202	0.61373	0.691736698151	0.65955	T	0.299161	0.67170	T	0.151022	0.69364	D	0.301122	0.88251	D	0.916581094264984	0.57407	D	0.825917	0.48908	T	0.64592785	0.75146	0.79429436	0.87913	0.64592785	0.75148	0.79429436	0.87914	-12.891	0.88908	D	.	.	0.625	0.69885	P	.	.	4.855298	0.79394	27.1	0.96534046551379116	0.30162	0.98778	0.86731	D	AEFBI	0.747937	0.68984	D	0.825381203909788	0.87664	9.297513	0.795544867708998	0.89482	9.992968	0.999866055757637	0.44398	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	5.77	0.91077	6.572000	0.73895	6.067000	0.53222	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.084	0.80832	850	0.35610	.	.	.	.	.	.	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	2077.98	34	chr12	101372939	.	T	G	2077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.509;DP=829;ExcessHet=0.0000;FS=4.377;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.23;ReadPosRankSum=-1.804e+00;SOR=1.054	GT:AD:DP:GQ:PL	0/1:51,77:128:99:2092,0,1274	20	0	1	0
chr12	101737877	101737877	T	C	exonic	SYCP3	.	nonsynonymous SNV	SYCP3:NM_001177948:exon2:c.A59G:p.Q20R	Pregnancy loss, recurrent, 4, Autosomal dominant;Spermatogenic failure 4, Autosomal dominant	.	0	1502	20	0	0	20	0.00661376	.	.	869054	Spermatogenic_failure_4	MONDO:MONDO:0010052,MedGen:C0232981,OMIM:270960	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.2	T	0.002	B	0.002	B	0.346	N	0.999	N	2.14	M	.	.	-0.971	T	0.146	T	0.382	0.359	5.946	5.01	1.891	2.231	11.421	0.085	0.00584070470239	0.0004	0.000599042	0.0008	0.0003	0	0	0	0.0005	0	0.0036	0.000718	111	154602	rs143228358	0.0006	0.0006	0.0005	0.0008	0.0042	0.0006	0.0006	0.0038	0.0037	5.974e-05	0.0003	0.0015	0	1.872e-05	0.0029	0.0004	0.0008	0.0042	0.0003	0.0003	0.0002	0.0005	0.0041	0.0003	0.0002	0.0027	0.0023	2.405e-05	0	6.535e-05	0.0003	0	0	0.0034	0.0004	0.0005	0.0041	0.824	0.02928	T	0.43	0.13713	T	0.002	0.09854	B	0.002	0.06944	B	0.345971	0.13890	N	0.694656	0.999111	0.21609	N	1.95	0.52479	M	.	.	.	-0.69	0.19720	N	0.361	0.41853	-0.9708	0.37030	T	0.146	0.46967	T	9	0.005790025	0.00129	T	0.005841	0.15191	T	0.085	0.24743	.	.	0.132336055621	0.12781	0.09953994278906358	0.09884	0.281062327463	0.30577	0.263465881348	0.05310	T	0.11399	0.43146	T	-0.394535	0.02514	T	-0.340654	0.40269	T	0.0133992460828032	0.00243	T	0.390461	0.09684	T	0.04984325	0.08912	0.059598148	0.11213	0.053708326	0.10204	0.057938606	0.10621	-3.246	0.13051	T	.	.	0.074	0.04975	B	.;.;.	.;.;.	1.195877	0.15877	12.16	0.91376685326588247	0.20641	0.68804	0.33941	D	AEFDBI	0.080722	0.16326	N	-0.215903476048163	0.32481	1.832244	-0.13961489558119	0.33809	1.938006	0.0711789056584624	0.15557	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.528226	0.09195	0	.	.	5.01	5.01	0.66477	2.308000	0.43350	0.423000	0.18241	-0.157000	0.11712	0.986000	0.36153	0.251000	0.23919	0.006000	0.07323	0.0:0.0:0.151:0.849	11.421	0.49228	465	0.78421	.;.;.	.	.	.	.	.	Uncertain significance	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	1108.98	43	chr12	101737877	.	T	C	1108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.710e-01;DP=837;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.81;ReadPosRankSum=-5.870e-01;SOR=0.748	GT:AD:DP:GQ:PL	0/1:60,53:113:99:1123,0,1410	20	0	1	0
chr12	101766270	101766270	A	G	exonic	GNPTAB	.	nonsynonymous SNV	GNPTAB:NM_024312:exon12:c.T1433C:p.I478T,	Mucolipidosis II alpha/beta, Autosomal recessive;Mucolipidosis III alpha/beta, Autosomal recessive	.	0	1501	21	0	0	21	0.00694674	.	.	713282	Mucolipidosis_type_II|Pseudo-Hurler_polydystrophy|not_provided	MONDO:MONDO:0009650,MedGen:C2673377,OMIM:252500,Orphanet:576|MONDO:MONDO:0018931,MedGen:C0033788,OMIM:252600,Orphanet:423461,Orphanet:577|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.77	T	0.003	B	0.005	B	0.925	N	1.000	N	0.345	N	-3.85	D	-0.309	T	0.584	D	0.147	0.156	4.841	-4.69	-0.397	-0.559	7.658	0.266	0.0544605855198	0.0004	0.000399361	0.0007	0.0003	0	0	0	0.0005	0	0.0025	0.0006015	93	154602	rs149718548	0.0006	0.0006	0.0005	0.0006	0.0029	0.0005	0.0005	0.0026	0.0025	8.963e-05	0.0003	0.0015	0	1.872e-05	0.0029	0.0004	0.0007	0.0029	0.0003	0.0003	0.0002	0.0004	0.0035	0.0003	0.0002	0.0023	0.0019	4.813e-05	0	6.539e-05	0.0003	0	0	0.0034	0.0004	0.0005	0.0035	0.182	0.21801	T	0.489	0.11586	T	0.003	0.11197	B	0.005	0.11217	B	0.925238	0.08459	N	0.967326	1	0.08975	N	1.1	0.28011	L	-3.85	0.95859	D	-0.12	0.08809	N	0.169	0.17966	-0.3094	0.74722	T	0.584	0.85079	D	10	0.0063535273	0.00143	T	0.054461	0.65866	D	0.266	0.57999	.	.	0.365317461125	0.36143	0.5691773594388446	0.56845	0.28373127432	0.30810	0.301884233952	0.10682	T	0.075602	0.35216	T	-0.319188	0.06965	T	-0.235883	0.51200	T	0.00434952491633391	0.00046	T	0.874313	0.58483	D	0.024662929	0.01321	0.027240569	0.00862	0.024662929	0.01321	0.027240569	0.00862	-4.152	0.26053	T	0.09487341674740654	0.06396	0.080	0.07841	B	.	.	0.295647	0.06715	3.225	0.58841609734208611	0.06085	0.04924	0.10679	N	AEFBI	0.045895	0.07560	N	-1.29789030836205	0.03701	0.1658055	-1.3277398934604	0.04075	0.1914703	0.999975229042931	0.50053	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.44	-4.69	0.03061	-0.392000	0.07375	-0.108000	0.11862	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.572000	0.30699	0.2925:0.4172:0.2902:0.0	7.658	0.27550	471	0.78036	.	.	.	.	.	.	Uncertain significance	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	1981.98	33	chr12	101766270	.	A	G	1981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.900e-02;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=0.043;SOR=0.648	GT:AD:DP:GQ:PL	0/1:73,81:154:99:1996,0,1755	20	0	1	0
chr12	102958405	102958405	-	GCA	exonic	ASCL1	.	nonframeshift insertion	ASCL1:NM_004316:exon1:c.161_162insGCA:p.Q62_A63insQ,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:4,29,0,0,0:33:70:1088,0,70,1100,158,1258,1100,158,1258,1258,1100,158,1258,1258,1258	6	1	11	0
chr12	102958405	102958405	-	GCAGCA	exonic	ASCL1	.	nonframeshift insertion	ASCL1:NM_004316:exon1:c.161_162insGCAGCA:p.Q62_A63insQQ,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:4,29,0,0,0:33:70:1088,0,70,1100,158,1258,1100,158,1258,1258,1100,158,1258,1258,1258	6	1	11	0
chr12	102958403	102958405	GCA	-	exonic	ASCL1	.	nonframeshift deletion	ASCL1:NM_004316:exon1:c.159_161del:p.Q62del,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:4,29,0,0,0:33:70:1088,0,70,1100,158,1258,1100,158,1258,1258,1100,158,1258,1258,1258	6	1	11	0
chr12	102958394	102958405	GCAGCAGCAGCA	-	exonic	ASCL1	.	nonframeshift deletion	ASCL1:NM_004316:exon1:c.150_161del:p.Q59_Q62del,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	254390	not_specified|Phenylketonuria	MedGen:CN169374|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416400102	0.0008	0.0008	0.0007	0.0008	0.0025	0.0007	0.0007	0.0021	0.0019	0.0025	0.0008	0.0058	0.0008	0	0.0012	0.0005	0.0013	0.0019	0.0015	0.0015	0.0013	0.0016	0.0029	0.0013	0.0013	0.0025	0.0023	0.0029	0	0.0012	0.0069	0.0004	0	0	0.0007	0.0014	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:4,29,0,0,0:33:70:1088,0,70,1100,158,1258,1100,158,1258,1258,1100,158,1258,1258,1258	6	1	11	0
chr12	103763598	103763598	-	C	exonic	STAB2	.	frameshift insertion	STAB2:NM_017564:exon68:c.7596dupC:p.F2534Lfs*5,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.362e-06	1.375e-06	1.16e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.995e-07	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2709.94	33	chr12	103763598	.	A	AC	2709.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.829e+00;DP=898;ExcessHet=0.0000;FS=5.144;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=-2.439e+00;SOR=0.765	GT:AD:DP:GQ:PL	0/1:87,101:188:99:2724,0,2276	20	0	1	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|2:107,0,15,0,0:122:99:0|1:103984920_G_GAGGATGCAAAGAAGATGGCT:305,630,5106,0,4476,4431,630,5106,4476,5106,630,5106,4476,5106,5106:103984920	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|2:107,0,15,0,0:122:99:0|1:103984920_G_GAGGATGCAAAGAAGATGGCT:305,630,5106,0,4476,4431,630,5106,4476,5106,630,5106,4476,5106,5106:103984920	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|2:107,0,15,0,0:122:99:0|1:103984920_G_GAGGATGCAAAGAAGATGGCT:305,630,5106,0,4476,4431,630,5106,4476,5106,630,5106,4476,5106,5106:103984920	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|2:107,0,15:122:99:0|1:103984920_G_GAGGATGCAAAGAAGATGGCT:305,630,5106,0,4476,4431:103984920	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|1:67,27,0,0:94:99:0|1:103985728_A_ATTGAGAGC:883,0,2686,1086,2768,3854,1086,2768,3854,3854:103985728	11	0	2	0
chr12	105049990	105049990	A	G	exonic	ALDH1L2	.	nonsynonymous SNV	ALDH1L2:NM_001034173:exon13:c.T1604C:p.V535A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.989	D	0.975	D	0.000	D	1.000	D	-0.165	N	-0.95	T	-0.219	T	0.353	T	0.781	4.968	29.0	5.81	2.225	9.233	16.171	0.627	0.0406147590825	.	.	1.653e-05	0	0	0	0	3.004e-05	0	0	1.29e-05	2	154602	rs755279693	1.37e-06	1.368e-06	1.362e-06	1.377e-06	2.242e-05	2.3e-07	9e-08	.	.	0	2.242e-05	0	0	0	0	9e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.184	0.29056	T	0.989	0.62824	D	0.975	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.495	0.02627	N	-0.95	0.75438	T	-3.43	0.67359	D	0.882	0.88027	-0.2188	0.77183	T	0.353	0.71627	T	10	0.85340786	0.84527	D	0.040615	0.59475	D	0.627	0.85615	0.509	0.60540	0.891234391995	0.89016	0.8492623669329039	0.84888	0.778182672044	0.65140	0.805928945541	0.82867	D	0.431646	0.77969	T	0.131115	0.67469	D	0.0334259	0.72501	D	0.748671428126274	0.43211	D	0.962604	0.86052	D	0.42736012	0.62579	0.4518643	0.68111	0.42736012	0.62580	0.4518643	0.68111	-9.478	0.70722	D	.	.	0.644	0.70682	P	.	.	4.715300	0.75797	26.4	0.99895711970476286	0.96895	0.99134	0.91726	D	AEFBI	0.927759	0.91092	D	0.565765246088994	0.71047	5.591927	0.648406129285599	0.78491	6.887229	0.999999925956284	0.74766	0.626454	0.40138	0	0.80507	0.99744	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.81	5.81	0.92413	9.220000	0.94329	11.156000	0.87498	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	1.0:0.0:0.0:0.0	16.171	0.81627	927	0.17636	Aldehyde dehydrogenase 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	1825.98	34	chr12	105049990	.	A	G	1825.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.990;DP=841;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=-3.141e+00;SOR=0.719	GT:AD:DP:GQ:PL	0/1:78,75:153:99:1840,0,1857	20	0	1	0
chr12	108702856	108702859	AAGT	-	exonic	CORO1C	.	frameshift deletion	CORO1C:NM_001105237:exon1:c.91_94del:p.T31Qfs*23,	.	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	0	0	0	0	0.0003	0	0.0032	0.0001746	27	154602	rs769043002	0.0007	0.0007	0.0006	0.0009	0.0041	0.0007	0.0007	0.0037	0.0036	9.503e-05	0	7.943e-05	2.801e-05	0.0014	0.0016	0.0006	0.0005	0.0041	0.0006	0.0006	0.0006	0.0007	0.0025	0.0005	0.0005	0.0014	0.0011	7.215e-05	0	0.0002	0	0	0.0013	0	0.0010	0	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1676.94	33	chr12	108702855	.	GAAGT	G	1676.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=842;ExcessHet=0.0000;FS=4.501;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.31;ReadPosRankSum=0.561;SOR=1.053	GT:AD:DP:GQ:PL	0/1:80,46:126:99:1691,0,3220	20	0	1	0
chr12	109287467	109287467	G	A	exonic	FOXN4	.	nonsynonymous SNV	FOXN4:NM_213596:exon6:c.C526T:p.P176S,	.	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.015	B	0.014	B	0.497	N	1.000	D	1.005	L	-3.21	D	-0.421	T	0.585	D	0.039	1.281	10.19	1.46	0.059	4.334	4.795	0.211	0.0518840421052	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867991777	5.72e-06	5.473e-06	2.821e-06	8.697e-06	8.842e-05	2.46e-06	1.78e-06	4.066e-05	2.854e-05	0	0	0	0	0	0	9.271e-07	0	8.842e-05	6.565e-06	6.562e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.114	0.28646	T	0.132	0.34477	T	0.015	0.17086	B	0.014	0.16862	B	0.496572	0.11998	N	0.759080	0.995436	0.81001	D	1.955	0.52871	M	-3.21	0.93291	D	-1.41	0.34795	N	0.066	0.03841	-0.4208	0.71366	T	0.585	0.85122	D	10	0.12673315	0.24096	T	0.051884	0.64845	D	0.211	0.50185	0.309	0.28128	0.894176079044	0.89312	0.47555440325659626	0.47474	0.201651076388	0.22570	0.461371779442	0.33499	T	0.16656	0.51285	T	-0.165249	0.25956	T	-0.347366	0.39507	T	0.121626732688453	0.14587	T	0.607039	0.22875	T	0.04157765	0.06149	0.06272296	0.12315	0.04157765	0.06148	0.06272296	0.12315	-5.14	0.38326	T	.	.	0.073	0.04558	B	.	.	2.339203	0.29972	18.29	0.96088272444883005	0.28674	0.93614	0.58701	D	AEFDBI	0.673707	0.63967	D	-0.650172001308162	0.17456	0.8983551	-0.553048703809989	0.20725	1.11792	0.0419864379065993	0.14507	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.47	1.46	0.21769	4.435000	0.59685	1.507000	0.26997	-0.134000	0.12905	1.000000	0.71638	1.000000	0.68203	0.296000	0.24405	0.085:0.1909:0.5867:0.1374	4.795	0.12637	742	0.52873	.	.	.	.	.	.	Uncertain significance	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	1037.98	34	chr12	109287467	.	G	A	1037.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-7.160e-01;SOR=0.752	GT:AD:DP:GQ:PL	0/1:47,39:86:99:1052,0,1185	20	0	1	0
chr12	111598993	111598993	C	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	.	265	331	379	543	4	1469	0.688764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	29227.06	33	chr12	111598993	.	C	*,T	29227.06	.	AC=3,29;AF=0.071,0.690;AN=42;BaseQRankSum=-2.220e-01;DP=1084;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=3,29;MLEAF=0.071,0.690;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=-7.290e-01;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:32,0,28:60:99:.:.:689,785,1782,0,996,913	2	0	0	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	1/2:0,9,30,8,0,0:47:19:1656,798,664,221,0,94,801,430,19,704,1086,694,225,724,986,1086,694,225,724,986,986	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	1/2:0,9,30,8,0,0:47:19:1656,798,664,221,0,94,801,430,19,704,1086,694,225,724,986,1086,694,225,724,986,986	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	1/2:0,9,30,8,0,0:47:19:1656,798,664,221,0,94,801,430,19,704,1086,694,225,724,986,1086,694,225,724,986,986	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	1/2:0,9,30,8,0,0:47:19:1656,798,664,221,0,94,801,430,19,704,1086,694,225,724,986,1086,694,225,724,986,986	4	0	0	0
chr12	124402521	124402521	-	GCTGCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGCAGC:p.Q509_P510insQQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	2/2:0,0,50,0,0:50:99:1997,1998,1999,150,150,0,1998,1999,150,1999,1998,1999,150,1999,1999	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	2/2:0,0,50,0,0:50:99:1997,1998,1999,150,150,0,1998,1999,150,1999,1998,1999,150,1999,1999	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	2/2:0,0,50,0,0:50:99:1997,1998,1999,150,150,0,1998,1999,150,1999,1998,1999,150,1999,1999	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	2/2:0,0,50,0,0:50:99:1997,1998,1999,150,150,0,1998,1999,150,1999,1998,1999,150,1999,1999	0	1	2	0
chr12	130163155	130163155	C	G	exonic	FZD10	.	nonsynonymous SNV	FZD10:NM_007197:exon1:c.C213G:p.F71L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.985	D	0.000	U	1.000	D	1.82	L	-1.22	T	-0.695	T	0.235	T	0.824	1.049	9.283	3.51	0.825	0.800	7.768	0.156	0.0413076824453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.997	0.70673	D	0.985	0.76457	D	0.000000	0.84330	U	0.000000	0.999997	0.58761	D	2.79	0.81396	M	-1.22	0.78752	T	-4.8	0.80682	D	0.878	0.87590	-0.6945	0.60698	T	0.235	0.60148	T	10	0.9503354	0.94367	D	0.041308	0.59855	D	0.716	0.89922	0.836	0.94356	0.460438652622	0.45667	0.8062538426350291	0.80580	.	.	0.915031373501	0.97923	D	0.759245	0.93465	D	0.24364	0.78005	D	0.112196	0.77719	D	0.985849738121033	0.76720	D	0.944206	0.78893	D	0.8386108	0.86509	0.83302987	0.90383	0.8386108	0.86511	0.83302987	0.90384	-8.297	0.63075	D	.	.	0.999	0.98383	P	.	.	4.225533	0.63950	24.6	0.91688038052130072	0.20980	0.92720	0.56381	D	AEFDGBHCI	0.723587	0.67316	D	0.124900864385968	0.47625	2.985714	0.134035430163778	0.46302	2.878361	0.999992082401012	0.74766	0.59774	0.34471	0	0.573888	0.26702	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.4	3.51	0.39297	0.764000	0.26197	3.832000	0.40000	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.7445:0.0:0.2555	7.768	0.28156	982	0.03397	Frizzled domain|Frizzled domain|Frizzled 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	2596.98	45	chr12	130163155	.	C	G	2596.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.960e-01;DP=921;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=-2.220e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/1:100,106:206:99:2611,0,2453	20	0	1	0
chr12	131756620	131756620	G	A	exonic	SFSWAP	.	nonsynonymous SNV	SFSWAP:NM_001261411:exon11:c.G1696A:p.V566I	.	.	429	1087	6	0	0	6	0.00275229	.	.	2378000	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.29	T	0.011	B	0.003	B	0.232	N	1.000	N	1.5	L	2.9	T	-1.037	T	0.050	T	0.131	1.313	10.30	-1.81	-0.345	-0.130	3.929	0.013	0.00494820466925	.	.	5.472e-05	0	0	0	0	3.257e-05	0	0.0003	3.88e-05	6	154602	rs763682971	9.113e-05	9.098e-05	9.199e-05	9.025e-05	0.0007	7.827e-05	7.366e-05	0.0002	0.0002	3.059e-05	4.809e-05	0	0	0	0.0007	8.043e-05	0.0002	0.0003	6.57e-05	6.566e-05	7.707e-05	5.38e-05	0.0002	3.516e-05	2.616e-05	5.842e-05	4.239e-05	2.412e-05	0	0	0	0	0	0	0.0001	0	0.0002	0.227	0.25154	T	0.201	0.43721	T	0.006	0.13644	B	0.001	0.04355	B	0.231577	0.03521	N	1.529970	1	0.08975	N	1.525	0.38595	L	2.9	0.10196	T	-0.45	0.14782	N	0.095	0.07535	-1.0370	0.18233	T	0.050	0.21143	T	10	0.07210097	0.10717	T	0.004948	0.12473	T	0.013	0.01715	.	.	0.102598925029	0.09809	0.03978221880174208	0.03924	0.366808815519	0.38247	0.333579421043	0.15474	T	0.056156	0.30207	T	-0.535051	0.00359	T	-0.707404	0.05430	T	0.00911517907014047	0.00115	T	0.694731	0.30630	T	0.017994883	0.00322	0.022193551	0.00250	0.017994883	0.00321	0.022193551	0.00249	-4.951	0.36303	T	.	.	0.066	0.03407	B	.;.	.;.	0.544814	0.09136	5.917	0.88915890152246291	0.18359	0.10534	0.16014	N	AEFDBI	0.033394	0.03951	N	-0.987500517232873	0.08869	0.417567	-1.05377831170322	0.08628	0.4251705	0.00226430786426858	0.09278	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	-1.81	0.07456	-0.144000	0.10263	-0.268000	0.10371	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.1399:0.349:0.3918:0.1194	3.929	0.08774	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	911.98	37	chr12	131756620	.	G	A	911.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=0.249;SOR=0.648	GT:AD:DP:GQ:PL	0/1:33,32:65:99:926,0,824	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|2:26,0,36,0,0:62:99:0|1:132148890_ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC_A:1433,1512,2593,0,1081,973,1512,2593,1081,2593,1512,2593,1081,2593,2593:132148890	4	2	6	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	0/1:7,39,2,0:48:23:923,0,23,853,112,1056,927,159,1045,1100	1	1	4	0
chr13	21177203	21177203	A	G	exonic	MRPL57	.	nonsynonymous SNV	MRPL57:NM_024026:exon2:c.A287G:p.N96S,	.	.	.	.	.	.	.	.	.	.	.	2334787	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.047	B	0.025	B	0.000	D	0.968	N	2.3	M	.	.	-1.001	T	0.104	T	0.056	2.921	15.74	-1.3	-0.086	2.840	2.359	0.093	0.0183896551743	0.0005	.	0.0004	0.0004	0.0002	0.0008	0.0003	0.0004	0	0.0002	0.0003169	49	154602	rs141711047	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0	0.0005	0.0007	0.0007	0.0004	0.0006	0.0003	0.0003	0.0003	0.0004	0.0003	0.0005	0.0003	0.0002	0.0003	0.0003	0.0005	0	0.0003	0	0.0004	0.0003	0	0.0003	0	0.0002	0.04	0.42199	D	0.056	0.46632	T	0.047	0.21998	B	0.025	0.20508	B	0.000057	0.53742	D	0.123229	0.967709	0.25836	N	2.93	0.84523	M	.	.	.	-2.99	0.62151	D	0.042	0.01498	-1.0012	0.29574	T	0.104	0.38119	T	9	0.035425574	0.01790	T	0.01839	0.40438	T	0.093	0.26882	.	.	0.0138822411134	0.00435	0.5387569928280177	0.53800	0.460764587813	0.45631	0.349716573954	0.17881	T	0.201504	0.55941	T	-0.463653	0.00932	T	-0.533868	0.18901	T	0.159589663147926	0.17841	T	0.737326	0.35372	T	0.22584768	0.45254	0.10703438	0.25760	0.22584768	0.45254	0.10703438	0.25760	-2.805	0.08230	T	.	.	0.082	0.08899	B	.	.	3.167343	0.42937	21.6	0.9919048796021096	0.54965	0.59580	0.30955	D	AEFDGBHCI	0.572476	0.57604	D	-0.600445514828128	0.18930	0.986851	-0.592500017498507	0.19687	1.057415	0.999999999963952	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	5.85	-1.3	0.08777	2.999000	0.49161	-0.107000	0.11873	-0.043000	0.17390	0.990000	0.36992	0.000000	0.08366	0.001000	0.02609	0.5813:0.1164:0.1905:0.1117	2.359	0.04039	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	1471.98	34	chr13	21177203	.	A	G	1471.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.221e+00;DP=821;ExcessHet=0.0000;FS=3.424;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-8.370e-01;SOR=0.428	GT:AD:DP:GQ:PL	0/1:59,60:119:99:1486,0,1587	20	0	1	0
chr13	23330562	23330562	G	C	exonic	SACS	.	nonsynonymous SNV	SACS:NM_001278055:exon8:c.C12873G:p.F4291L	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.988	D	0.755	P	0.000	D	0.997	D	1.39	L	-2.14	D	0.313	D	0.626	D	0.551	3.013	16.05	3.81	1.478	3.362	13.737	0.584	0.122549990632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.26965	T	0.0	0.92824	D	0.988	0.62325	D	0.755	0.56206	P	0.000000	0.84330	D	0.000000	0.996713	0.43371	D	2.4	0.69460	M	-2.29	0.87591	D	-1.26	0.35792	N	0.509	0.54234	0.313	0.87756	D	0.626	0.86850	D	10	0.4649511	0.59513	T	0.12255	0.80355	D	0.584	0.83305	0.376	0.38994	0.854021575142	0.85261	0.5727416198917414	0.57202	.	.	0.84032189846	0.88144	D	0.325589	0.69629	T	0.0961424	0.63873	D	-0.0996746	0.63423	T	0.921945631504059	0.58184	D	0.941006	0.77964	D	0.2207845	0.44642	0.1759384	0.40094	0.2207845	0.44642	0.1759384	0.40093	-3.154	0.11927	T	0.632975275961714	0.70262	0.957	0.87695	P	.;.	.;.	3.709631	0.52947	23.3	0.99706653019664193	0.81005	0.91203	0.53062	D	AEFDBCI	0.510993	0.53981	D	0.319041308045928	0.57125	3.878884	0.293798544965128	0.55176	3.680972	0.999999327388643	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.645665	0.59343	0	.	.	5.85	3.81	0.43020	3.449000	0.52713	2.994000	0.35893	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.1454:0.0:0.8546:0.0	13.737	0.62306	987	0.02648	.;.	.	.	.	.	.	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	0.02381	3368.98	34	chr13	23330562	.	G	C	3368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.743;DP=916;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.24;ReadPosRankSum=-8.100e-01;SOR=0.661	GT:AD:DP:GQ:PL	0/1:98,123:221:99:3383,0,2490	20	0	1	0
chr13	24435475	24435475	C	T	splicing	PARP4	NM_006437:exon31:c.3667-1G>A	.	.	.	.	439	1073	8	2	0	12	0.0055607	0.9999	0.77	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	N	.	.	.	.	.	.	.	.	.	0.467	6.535	2.19	1.546	2.434	7.918	.	.	0.0002	0.000399361	0.0007	0	8.764e-05	0.0007	0	0.0004	0	0.0035	0.0005239	81	154602	rs201251739	0.0005	0.0005	0.0004	0.0006	0.0033	0.0004	0.0004	0.0030	0.0029	3.167e-05	2.672e-05	0.0002	0.0008	2.049e-05	0.0024	0.0003	0.0005	0.0033	0.0003	0.0003	0.0002	0.0004	0.0041	0.0002	0.0002	0.0027	0.0023	0	0	0.0001	0	0.0002	0	0.0034	0.0003	0.0005	0.0041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575275	0.31144	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.661043	0.00062	T	-0.726623	0.04482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.852816	0.79340	27.1	0.89243153055348434	0.18631	0.31660	0.24393	N	AEFBI	.	.	.	0.357936369023394	0.59158	4.093148	-0.0162358053320742	0.38980	2.304494	7.58805709476196E-4	0.07758	0.295142	0.05270	0	0.30413	0.05452	0	0.231597	0.04857	0	0.221052	0.04502	0	0.0971518	0.21753	2.19	2.19	0.26890	2.450000	0.44601	3.484000	0.38668	0.430000	0.20916	0.652000	0.28189	0.998000	0.33993	0.083000	0.17415	0.0:1.0:0.0:0.0	7.918	0.28995	864	0.32732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	560.98	38	chr13	24435475	.	C	T	560.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.797e+00;DP=733;ExcessHet=0.0000;FS=8.209;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.16;ReadPosRankSum=-6.100e-02;SOR=0.105	GT:AD:DP:GQ:PL	0/1:18,19:37:99:575,0,590	20	0	1	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|1:223,105,0:328:99:0|1:25097005_A_G:3738,0,9048,4409,9364,13773:25097005	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|2:223,0,105:328:99:0|1:25097005_A_G:3738,4409,13773,0,9364,9048:25097005	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|2:223,0,105:328:99:0|1:25097005_A_G:3738,4409,13773,0,9364,9048:25097005	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|1:217,111,0:328:99:0|1:25097005_A_G:3928,0,8774,4581,9108,13689:25097005	4	0	16	0
chr13	26681265	26681265	C	G	exonic	WASF3	.	nonsynonymous SNV	WASF3:NM_001291965:exon8:c.C919G:p.P307A	.	.	414	1101	6	1	0	8	0.00361991	.	.	702645	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.156	B	0.056	B	0.004	N	1.000	D	1.155	L	0.34	T	-1.019	T	0.110	T	0.381	1.621	11.38	6.07	2.885	5.468	20.645	0.125	0.0296180166556	0.0043	0.00119808	0.0039	0.0009	0.0040	0	0.0024	0.0056	0.0034	0.0010	0.003758	581	154602	rs151322145	0.0057	0.0057	0.0058	0.0057	0.0069	0.0056	0.0056	0.0067	0.0067	0.0010	0.0029	0.0023	0	0.0020	0.0012	0.0069	0.0048	0.0013	0.0034	0.0034	0.0036	0.0032	0.0061	0.0031	0.0030	0.0057	0.0055	0.0010	0	0.0015	0.0014	0	0.0010	0.0034	0.0061	0.0038	0.0019	0.142	0.25457	T	0.278	0.26969	T	0.156	0.28196	B	0.056	0.26147	B	0.003773	0.34511	N	0.310059	0.99957	0.47641	D	0.945	0.23706	L	0.34	0.58176	T	-1.11	0.36980	N	0.544	0.57092	-1.0190	0.24041	T	0.110	0.39723	T	10	0.007344365	0.00167	T	0.029618	0.52093	D	0.125	0.34456	.	.	0.138757226776	0.13463	0.18370489741777404	0.18289	0.840410351682	0.68033	0.600477933884	0.52972	T	0.071715	0.34276	T	-0.383269	0.02971	T	-0.320009	0.42573	T	0.0257074613894093	0.01366	T	0.836716	0.51465	T	0.04235307	0.06407	0.064666845	0.12995	0.04235307	0.06407	0.064666845	0.12995	-5.81	0.44661	T	.	.	0.054	0.00658	B	.;.	.;.	1.448438	0.18688	13.87	0.90098016147171578	0.19381	0.99058	0.90610	D	AEFDBI	0.332620	0.43197	N	-0.112290169804088	0.36858	2.136181	0.0049155931279314	0.39942	2.376022	0.999999999999382	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.07	6.07	0.98675	5.543000	0.66933	3.894000	0.40311	0.599000	0.40250	0.989000	0.36753	0.998000	0.33993	0.045000	0.14751	0.0:1.0:0.0:0.0	20.645	0.99594	928	0.17405	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1475.11	33	chr13	26681265	.	C	G	1475.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.04;DP=774;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=-4.400e-02;SOR=0.654	GT:AD:DP:GQ:PL	0/1:41,29:70:99:656,0,983	19	0	2	0
chr13	31274581	31274581	G	A	exonic	B3GLCT	.	nonsynonymous SNV	B3GLCT:NM_194318:exon9:c.G733A:p.V245M,	Peters-plus syndrome, Autosomal recessive	.	0	1483	38	1	0	40	0.0133067	.	.	102523	Peters_plus_syndrome|not_provided|not_specified	MONDO:MONDO:0009856,MedGen:C0796012,OMIM:261540,Orphanet:709|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.13	T	0.069	B	0.009	B	0.452	N	1.000	N	1.7	L	-0.64	T	-0.905	T	0.170	T	0.108	-0.113	3.446	1.84	0.021	-0.058	4.173	0.061	.	0.0053	0.00439297	0.0070	0.0014	0.0029	0	0.0026	0.0091	0.0099	0.0099	0.0068369	1057	154602	rs34830061	0.0070	0.0070	0.0069	0.0071	0.0121	0.0069	0.0068	0.0099	0.0090	0.0012	0.0032	0.0153	7.558e-05	0.0036	0.0121	0.0073	0.0066	0.0092	0.0050	0.0050	0.0051	0.0050	0.0097	0.0047	0.0046	0.0075	0.0067	0.0013	0.0208	0.0027	0.0193	0	0.0028	0.0034	0.0072	0.0071	0.0097	0.136	0.26085	T	0.106	0.37872	T	0.069	0.23796	B	0.009	0.14300	B	0.451778	0.12498	N	0.768332	1	0.08975	N	0.46	0.12951	N	-0.64	0.72125	T	0.14	0.05405	N	0.179	0.19325	-0.9055	0.47389	T	0.170	0.51052	T	10	0.0038720667	0.00073	T	.	.	.	0.061	0.17616	.	.	0.498513350342	0.49487	0.4227196399436346	0.42188	0.222872868779	0.24819	0.271227419376	0.06302	T	0.037088	0.24346	T	-0.501488	0.00561	T	-0.48588	0.23824	T	0.000223777613944911	0.00001	T	0.647135	0.25820	T	0.021001458	0.00681	0.027739998	0.00950	0.021001458	0.00681	0.027739998	0.00950	-4.006	0.23893	T	0.11511323578910222	0.10263	0.071	0.04002	B	.	.	0.603724	0.09722	6.491	0.91156191702256784	0.20411	0.04882	0.10625	N	AEFDBIJ	0.039290	0.05685	N	-0.785131843644018	0.13696	0.6766145	-0.833203669276532	0.13691	0.7116637	0.999959240786618	0.48110	0.732398	0.92422	0	0.588015	0.36545	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	5.62	1.84	0.24348	-0.220000	0.09220	0.271000	0.16657	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.121000	0.19209	0.0753:0.1312:0.389:0.4045	4.173	0.09798	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	2242.11	33	chr13	31274581	.	G	A	2242.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.375;DP=820;ExcessHet=0.1072;FS=7.817;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-1.110e+00;SOR=0.645	GT:AD:DP:GQ:PL	0/1:43,58:101:99:1380,0,910	19	0	2	0
chr13	32338613	32338613	G	T	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon11:c.G4258T:p.D1420Y,	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	YES	3	1490	27	2	0	31	0.0102956	.	.	49988	Hereditary_cancer-predisposing_syndrome|not_provided|not_specified|Breast_and/or_ovarian_cancer|Hereditary_breast_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial,_susceptibility_to,_2|Malignant_tumor_of_breast	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MedGen:CN169374|MedGen:CN221562|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145|MONDO:MONDO:0007254,MedGen:C0006142	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0	D	0.03	B	0.011	B	0.594	N	1.000	N	2.08	M	5.71	T	-0.910	T	0.003	T	0.625	1.506	10.99	1.06	0.126	0.274	2.252	0.152	.	0.0040	0.00399361	0.0068	0.0010	0.0013	0.0001	0.0183	0.0080	0.0045	0.0081	0.00652	1008	154602	rs28897727	0.0065	0.0065	0.0063	0.0067	0.0082	0.0064	0.0063	0.0077	0.0075	0.0011	0.0021	0.0012	5.089e-05	0.0173	0.0053	0.0066	0.0049	0.0082	0.0060	0.0060	0.0052	0.0068	0.0078	0.0057	0.0055	0.0072	0.0070	0.0015	0	0.0022	0.0012	0.0004	0.0225	0.0034	0.0078	0.0052	0.0070	0.03	0.45393	D	0.007	0.69154	D	.	.	.	.	.	.	0.593777	0.11024	N	0.823186	1	0.08975	N	.	.	.	5.71	0.00734	T	-6.6	0.92042	D	0.348	0.42931	-0.9105	0.46793	T	0.003	0.00800	T	10	0.0073898137	0.00168	T	.	.	.	0.152	0.39956	.	.	0.806314087725	0.80449	0.2672400750984085	0.26637	0.0240461599335	0.02442	0.280369341373	0.07543	T	.	.	.	-0.435259	0.01379	T	-0.390034	0.34547	T	0.0118407043112633	0.00184	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.09143	B	.;.	.;.	1.376317	0.17874	13.42	0.98833556565814296	0.47002	0.49798	0.28516	N	AEFDBI	0.072261	0.14414	N	-0.566739773436893	0.19962	1.048817	-0.580804229601725	0.19994	1.075233	0.998752000881226	0.37602	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.95	1.06	0.19341	0.305000	0.19006	2.200000	0.31279	0.656000	0.54149	0.698000	0.28607	1.000000	0.68203	0.279000	0.23992	0.2596:0.1191:0.4981:0.1231	2.252	0.03798	748	0.52143	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	911.98	109	chr13	32338613	.	G	T	911.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.121e+00;DP=1957;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.12;ReadPosRankSum=0.619;SOR=0.681	GT:AD:DP:GQ:PL	0/1:61,39:100:99:926,0,1826	20	0	1	0
chr13	33111803	33111803	A	G	exonic	STARD13	.	nonsynonymous SNV	STARD13:NM_052851:exon10:c.T2228C:p.I743T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.375	M	2.14	T	-0.532	T	0.204	T	0.991	4.871	27.9	5.61	2.259	9.171	16.103	0.796	0.0761603534779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.6	0.93737	H	2.14	0.20122	T	-4.66	0.80595	D	0.985	0.99776	-0.5324	0.67450	T	0.204	0.56197	T	10	0.94739515	0.94068	D	0.07616	0.72464	D	0.796	0.93306	0.728	0.86198	0.857675792657	0.85630	0.7755266573763596	0.77502	0.705284076393	0.61380	0.727703273296	0.71171	T	0.822902	0.95689	D	0.290828	0.82224	D	0.179978	0.81995	D	0.99875009059906	0.95068	D	0.995275	0.98387	D	0.8065001	0.84324	0.7567165	0.85623	0.8065001	0.84325	0.7567165	0.85624	-12.12	0.85887	D	.	.	0.927	0.84763	P	.;.;.	.;.;.	4.940163	0.81522	27.6	0.99872068391695623	0.94989	0.96601	0.69959	D	AEFDGBCIJ	0.906598	0.85956	D	0.980277153487378	0.95107	13.31447	0.917520422649904	0.96292	14.52191	0.999999999999996	0.74766	0.645754	0.44609	0	0.519925	0.08708	0	0.618467	0.43123	0	0.723	0.93126	0	.	.	5.61	5.61	0.85347	9.210000	0.94212	11.072000	0.85602	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	16.103	0.81002	473	0.77910	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	88.73	43	chr13	33111803	.	A	G	88.73	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.614e+00;DP=1156;ExcessHet=0.3300;FS=92.526;InbreedingCoeff=-0.0780;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=0.072;SOR=8.967	GT:AD:DP:GQ:PL	0/1:54,15:69:31:31,0,1024	18	0	3	0
chr13	36819434	36819434	C	G	exonic	RFXAP	.	nonsynonymous SNV	RFXAP:NM_000538:exon1:c.C77G:p.P26R,	Bare lymphocyte syndrome, type II, complementation group D, Autosomal recessive	.	1	1519	2	0	0	2	0.000657895	.	.	334349	MHC_class_II_deficiency	MONDO:MONDO:0008855,MedGen:C2931418,OMIM:PS209920,Orphanet:572	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.948	D	0.128	N	1.000	N	0	N	.	.	-1.055	T	0.092	T	0.337	2.051	12.81	4.01	1.046	1.515	9.028	0.198	.	.	.	0.0039	0	0	0	0	0.0154	0	0	9.7e-05	15	154602	rs763162669	0.0001	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0001	8.059e-05	3.763e-05	0.0003	0.0032	0	2.361e-05	0.0002	8.02e-05	0.0004	0	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.253e-05	0.0001	8.295e-05	2.414e-05	0	0.0003	0.0029	0	0	0	8.831e-05	0.0010	0	0.007	0.59928	D	0.393	0.15355	T	1.0	0.90584	D	0.948	0.68536	D	0.128475	0.18730	N	0.379535	1	0.08975	N	0.895	0.22405	L	.	.	.	-1.42	0.34992	N	0.155	0.16028	-1.0553	0.12961	T	0.092	0.35146	T	9	0.0066409707	0.00150	T	.	.	.	0.198	0.48105	0.237	0.16760	0.212008924253	0.20833	0.22145126156859848	0.22060	1.04077518739	0.75788	0.693095326424	0.66150	T	0.048657	0.28082	T	-0.165553	0.25908	T	-0.176645	0.56832	T	0.108697224269717	0.13288	T	0.416558	0.10945	T	0.07153889	0.15846	0.1727111	0.39545	0.07153889	0.15845	0.1727111	0.39545	-6.555	0.50709	T	.	.	0.103	0.18539	B	.	.	1.945762	0.24712	16.50	0.99372140490833372	0.61498	0.30909	0.24203	N	ALL	0.035887	0.04692	N	-0.294255235906611	0.29369	1.628076	-0.419006694667712	0.24439	1.338293	0.999999999999841	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.86	4.01	0.45821	0.951000	0.28733	1.482000	0.26828	0.535000	0.24933	0.001000	0.13787	0.050000	0.21810	0.005000	0.06747	0.0:0.8966:0.0:0.1034	9.028	0.35405	756	0.51065	.	.	.	.	.	.	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	503.98	33	chr13	36819434	.	C	G	503.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=793;ExcessHet=0.0000;FS=1.023;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.87;ReadPosRankSum=0.215;SOR=0.974	GT:AD:DP:GQ:PL	0/1:40,24:64:99:518,0,926	20	0	1	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L,	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.951	P	0.409	B	0.000	N	1.000	D	2.865	M	1.88	T	-0.981	T	0.091	T	0.248	3.297	17.08	4.14	0.938	4.903	8.428	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	1573.08	134	chr13	38859428	.	G	C	1573.08	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-4.318e+00;DP=3120;ExcessHet=17.4423;FS=268.600;InbreedingCoeff=-0.5351;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=0.855;SOR=13.744	GT:AD:DP:GQ:PL	0/1:114,44:169:46:46,0,2196	6	0	15	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.0	B	0.384	N	1.000	N	-1.1	N	1.03	T	-1.049	T	0.025	T	0.042	-1.565	0.015	-6.75	-1.034	0.234	0.459	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	7061.0	123	chr13	42303097	.	G	C	7061.0	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-4.570e+00;DP=3154;ExcessHet=43.6797;FS=339.584;InbreedingCoeff=-0.9521;MLEAC=21;MLEAF=0.525;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=0.878;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,40:151:99:.:.:413,0,2572	0	0	20	1
chr13	48459808	48459808	T	C	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon20:c.T2081C:p.L694P,	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.42	M	-3.77	D	1.097	D	0.943	D	0.995	4.463	23.8	5.48	2.086	7.698	15.564	0.976	0.602785562062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	5.093e-05	2.774e-06	0	1.836e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	3.345	0.91022	M	-3.77	0.95595	D	-6.07	0.89871	D	0.984	0.99337	1.097	0.99525	D	0.943	0.98136	D	10	0.9566928	0.95037	D	0.602786	0.96508	D	0.976	0.99783	0.78	0.90465	0.995699770876	0.99565	0.980477162488264	0.98038	1.68776258327	0.90085	0.897795319557	0.96192	D	0.975174	0.99754	D	0.560843	0.96253	D	0.567835	0.96194	D	0.999335587024689	0.97004	D	0.909909	0.68110	D	0.9948388	0.99958	0.97334516	0.99602	0.9948388	0.99958	0.97334516	0.99602	-13.406	0.90966	D	0.9398642061341252	0.97687	0.998	0.97486	P	.;.	.;.	5.226627	0.87722	29.3	0.99926600234762908	0.99103	0.97876	0.77794	D	AEFBI	0.964519	0.98666	D	0.915122981473785	0.92480	11.44748	0.844938188139194	0.92718	11.58983	0.999996381698106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.674000	0.83146	7.932000	0.75071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.564	0.76018	726	0.54788	Retinoblastoma-associated protein, B-box|Cyclin-like|Cyclin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.2619	1269.87	115	chr13	48459808	.	T	C	1269.87	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-3.482e+00;DP=2175;ExcessHet=7.7275;FS=135.304;InbreedingCoeff=-0.3657;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=0.91;ReadPosRankSum=0.896;SOR=12.258	GT:AD:DP:GQ:PL	0/1:91,38:129:99:205,0,1577	10	0	11	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.995	D	0.000	D	0.987	D	3.165	M	-0.39	T	0.346	D	0.580	D	0.608	3.858	19.60	5.08	2.520	4.058	18.834	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	1218.29	151	chr13	69882456	.	G	A	1218.29	.	AC=15;AF=0.375;AN=40;BaseQRankSum=-2.253e+00;DP=2755;ExcessHet=17.4423;FS=173.681;InbreedingCoeff=-0.5810;MLEAC=15;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=0.201;SOR=13.428	GT:AD:DP:GQ:PL	0/1:83,31:124:56:56,0,1513	5	0	15	1
chr13	71866312	71866314	CTG	-	exonic	DACH1	.	nonframeshift deletion	DACH1:NM_001366712:exon1:c.456_458del:p.S163del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0176	.	0.0065	0.0024	0.0044	0.0040	0	0.0038	0.0089	0.0117	0.0013971	216	154602	rs762670469	0.0006	0.0093	0.0006	0.0006	0.0012	0.0006	0.0006	0.0009	0.0008	0.0010	0.0012	0.0009	0.0007	0.0011	0	0.0006	0.0006	0.0006	5.964e-05	0.0001	3.883e-05	8.149e-05	0.0003	3.101e-05	2.227e-05	8.921e-05	5.416e-05	0	0	0.0003	0.0006	0	0	0	4.442e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	36.94	38	chr13	71866311	.	ACTG	A	36.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.410e-01;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.64;ReadPosRankSum=0.125;SOR=0.518	GT:AD:DP:GQ:PL	0/1:53,5:58:51:51,0,2166	20	0	1	0
chr13	75727060	75727062	AAG	-	exonic	LMO7	.	nonframeshift deletion	LMO7:NM_001306080:exon3:c.172_174del:p.K59del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.477e-05	0	0	0	0	3.182e-05	0.0012	6.434e-05	2.59e-05	4	154602	rs759588492	2.295e-05	2.463e-05	1.387e-05	3.209e-05	8.187e-05	1.637e-05	1.44e-05	3.795e-05	2.681e-05	6.064e-05	0	0	0	5.621e-05	0	1.741e-05	3.36e-05	8.187e-05	2.629e-05	2.627e-05	2.571e-05	2.69e-05	4.411e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	9.42e-05	0	4.411e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1544.94	35	chr13	75727059	.	TAAG	T	1544.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.484;DP=794;ExcessHet=0.0000;FS=1.694;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=0.241;SOR=0.527	GT:AD:DP:GQ:PL	0/1:54,41:95:99:1559,0,2071	20	0	1	0
chr13	99970416	99970416	-	GGC	exonic	ZIC5	.	nonframeshift insertion	ZIC5:NM_033132:exon1:c.1259_1260insGCC:p.P424_A425insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772098205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	10227.81	36	chr13	99970413	.	TGGC	T,TGGCGGC	10227.81	.	AC=11,3;AF=0.262,0.071;AN=42;BaseQRankSum=0.619;DP=1251;ExcessHet=2.0984;FS=0.000;InbreedingCoeff=-0.0714;MLEAC=11,3;MLEAF=0.262,0.071;MQ=60.00;MQRankSum=0.00;QD=21.22;ReadPosRankSum=0.351;SOR=0.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:32,32,0:64:99:.:.:1193,0,1175,1289,1272,2562	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	0/1:175,45:237:67:67,0,3972	6	0	10	5
chr13	107866341	107866341	-	CTG	exonic	FAM155A	.	nonframeshift insertion	FAM155A:NM_001080396:exon1:c.255_256insCAG:p.Q86_R87insQ,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1471.36	38	chr13	107866338	.	TCTG	TCTGCTG,T	1471.36	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-4.500e-02;DP=878;ExcessHet=0.3300;FS=0.598;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=6.54;ReadPosRankSum=0.033;SOR=0.636	GT:AD:DP:GQ:PL	0/2:79,0,11:90:99:220,458,3664,0,3207,3173	18	0	1	0
chr13	112547532	112547547	ACGTGCATGGGAAAGT	0	exonic	TUBGCP3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	22922.08	213	chr13	112547532	.	ACGTGCATGGGAAAGT	A,*	22922.08	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=0.389;DP=2588;ExcessHet=2.5830;FS=1.106;InbreedingCoeff=-0.2000;MLEAC=6,1;MLEAF=0.143,0.024;MQ=59.97;MQRankSum=0.00;QD=14.52;ReadPosRankSum=0.139;SOR=0.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,126,0:268:99:0|1:112547505_C_T:4643,0,5517,4584,5893,10388:112547505	14	0	6	0
chr13	112547554	112547568	TGGGAAAGTCGCGCG	-	exonic	TUBGCP3	.	nonframeshift deletion	TUBGCP3:NM_001286279:exon10:c.1220_1234del:p.T412_P416del,	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|4:142,0,0,0,126,0:268:99:0|1:112547505_C_T:4643,4584,10388,4584,10388,10388,4584,10388,10388,10388,0,5893,5893,5893,5517,4584,10388,10388,10388,5893,10388:112547505	7	0	5	0
chr13	112547538	112547568	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	0	exonic	TUBGCP3	.	.	.	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|4:142,0,0,0,126,0:268:99:0|1:112547505_C_T:4643,4584,10388,4584,10388,10388,4584,10388,10388,10388,0,5893,5893,5893,5517,4584,10388,10388,10388,5893,10388:112547505	7	0	5	0
chr13	112547568	112547568	-	TGGGAAAGTCGCGCG	exonic	TUBGCP3	.	nonframeshift insertion	TUBGCP3:NM_001286279:exon10:c.1219_1220insCGCGCGACTTTCCCA:p.P416_M417insTRDFP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|4:142,0,0,0,126,0:268:99:0|1:112547505_C_T:4643,4584,10388,4584,10388,10388,4584,10388,10388,10388,0,5893,5893,5893,5517,4584,10388,10388,10388,5893,10388:112547505	7	0	5	0
chr13	112547565	112547565	C	0	exonic	TUBGCP3	.	.	.	.	.	443	851	116	13	99	241	0.0770065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	24873.61	185	chr13	112547565	.	C	T,*	24873.61	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=0.983;DP=2360;ExcessHet=3.5521;FS=1.103;InbreedingCoeff=-0.2353;MLEAC=7,1;MLEAF=0.167,0.024;MQ=59.97;MQRankSum=0.00;QD=16.56;ReadPosRankSum=-7.970e-01;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,125,0:243:99:0|1:112547505_C_T:4620,0,4479,4509,4870,9365:112547505	13	0	7	0
chr13	113404152	113404152	C	0	exonic	LOC101928841	.	.	.	.	.	74	109	6	10	27	53	0.106557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	13067.7	97	chr13	113404152	.	C	T,*	13067.7	.	AC=18,3;AF=0.500,0.083;AN=36;BaseQRankSum=1.82;DP=1904;ExcessHet=0.0725;FS=0.000;InbreedingCoeff=0.1863;MLEAC=20,3;MLEAF=0.556,0.083;MQ=55.13;MQRankSum=-6.490e-01;QD=9.73;ReadPosRankSum=-4.236e+00;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:55,32,0:87:99:.:.:765,0,1408,928,1503,2430	4	5	6	3
chr13	113453256	113453256	A	G	exonic	ADPRHL1	.	nonsynonymous SNV	ADPRHL1:NM_138430:exon1:c.T182C:p.M61T,	.	.	430	1028	57	7	0	71	0.0333803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.684	P	0.419	B	0.000	D	1.000	D	2.215	M	1.25	T	-0.912	T	0.105	T	0.827	3.882	19.73	5.73	2.186	8.513	16.017	0.491	.	0.0067	0.00658946	0.0079	0.0008	0.0048	0.0003	0.0021	0.0076	0.0055	0.0219	0.0074061	1145	154602	rs138029763	0.0079	0.0079	0.0072	0.0085	0.0234	0.0078	0.0077	0.0225	0.0222	0.0013	0.0045	0.0113	5.038e-05	0.0016	0.0196	0.0074	0.0084	0.0234	0.0054	0.0054	0.0051	0.0057	0.0226	0.0051	0.0050	0.0192	0.0179	0.0013	0	0.0037	0.0150	0	0.0020	0.0170	0.0074	0.0080	0.0226	0.001	0.78490	D	0.002	0.83351	D	0.684	0.41517	P	0.419	0.45047	B	0.000000	0.84330	D	0.043136	0.999991	0.58761	D	3.265	0.90016	M	1.25	0.36512	T	-5.04	0.82638	D	0.624	0.82458	-0.9117	0.46645	T	0.105	0.38440	T	10	0.00862059	0.00195	T	.	.	.	0.491	0.77783	.	.	0.465294738428	0.46155	0.8717619787962976	0.87142	0.408364827475	0.41678	0.693786382675	0.66250	T	0.108391	0.57159	T	-0.113658	0.34163	T	0.0815474	0.75682	D	0.0660605591948189	0.08087	T	0.866613	0.56692	D	0.9090536	0.92206	0.9600876	0.98976	0.9090536	0.92207	0.9600876	0.98977	-13.806	0.92409	D	.	.	0.839	0.79189	P	.;.	.;.	4.357196	0.66971	25.0	0.99295426865872471	0.58433	0.98624	0.84831	D	AEFDBCI	0.938560	0.93793	D	0.522034606122977	0.68396	5.211239	0.566835519589783	0.72577	5.831745	0.999999999999811	0.74766	0.421363	0.06395	0	0.379588	0.06130	0	0.536957	0.11973	0	0.491896	0.07777	0	.	.	5.73	5.73	0.89730	8.502000	0.90336	10.946000	0.84370	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.849000	0.40138	1.0:0.0:0.0:0.0	16.017	0.80250	976	0.04745	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2183.11	35	chr13	113453256	.	A	G	2183.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.290e+00;DP=851;ExcessHet=0.1072;FS=1.169;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=1.72;SOR=0.815	GT:AD:DP:GQ:PL	0/1:49,46:95:99:1026,0,1413	19	0	2	0
chr14	21031160	21031160	G	A	exonic	TPPP2	.	nonsynonymous SNV	TPPP2:NM_173846:exon3:c.G322A:p.A108T,	.	.	431	1077	14	0	0	14	0.00645756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.004	B	0.001	B	0.444	N	1.000	N	-0.55	N	1.11	T	-1.002	T	0.026	T	0.184	0.001	4.019	0.548	0.028	1.138	8.225	0.032	0.00560486578843	0.0046	0.00159744	0.0039	0.0006	0.0010	0	0.0012	0.0063	0.0034	0.0017	0.0039003	603	154602	rs112271660	0.0041	0.0041	0.0041	0.0041	0.0061	0.0040	0.0040	0.0046	0.0046	0.0009	0.0011	0.0052	0	0.0027	0.0061	0.0047	0.0033	0.0016	0.0028	0.0028	0.0030	0.0027	0.0047	0.0026	0.0025	0.0043	0.0041	0.0006	0	0.0020	0.0063	0.0002	0.0020	0	0.0047	0.0009	0.0021	0.361	0.25055	T	0.621	0.16865	T	0.004	0.12183	B	0.001	0.04355	B	0.443918	0.12592	N	0.754623	1	0.08975	N	0.05	0.08135	N	0.97	0.42502	T	0.15	0.13035	N	0.172	0.18376	-1.0016	0.29459	T	0.026	0.11309	T	10	0.009100497	0.00206	T	0.005605	0.14469	T	0.032	0.07718	.	.	0.0806252709748	0.07271	0.31629097127188693	0.31542	0.0547453551122	0.06061	0.227164238691	0.01765	T	0.00329	0.03161	T	-0.586317	0.00176	T	-0.608441	0.12112	T	0.00318947470735191	0.00034	T	0.387861	0.12671	T	0.036615215	0.04537	0.06592769	0.13431	0.036615215	0.04537	0.06592769	0.13431	-3.071	0.10966	T	.	.	0.060	0.05188	B	.;.;.;.;.	.;.;.;.;.	0.804189	0.11749	8.325	0.77467315283828342	0.11888	0.12166	0.17101	N	AEFBI	0.172423	0.29946	N	-1.32781394930886	0.03361	0.1499837	-1.2817637082236	0.04676	0.2211651	0.997216457243705	0.35382	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.84	0.548	0.16397	1.052000	0.30039	1.590000	0.27524	-0.735000	0.03699	0.001000	0.13787	0.003000	0.18671	0.085000	0.17524	0.4342:0.0:0.5658:0.0	8.225	0.30726	952	0.10565	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	5596.11	35	chr14	21031160	.	G	A	5596.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.72;DP=1177;ExcessHet=0.1072;FS=1.103;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=1.27;SOR=0.600	GT:AD:DP:GQ:PL	0/1:125,126:251:99:3281,0,2960	19	0	2	0
chr14	21431303	21431303	G	A	exonic	CHD8	.	nonsynonymous SNV	CHD8:NM_001170629:exon2:c.C341T:p.T114M,	.	.	419	1102	1	0	0	1	0.000453515	.	.	268980	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	0	N	-2.46	D	-0.284	T	0.402	T	0.209	2.397	13.97	4.88	1.445	1.615	12.341	0.288	0.216791486836	0.0004	0.00139776	0.0005	0.0042	0.0027	0	0	0	0	0	0.0002393	37	154602	rs111250264	7.977e-05	7.867e-05	9.305e-05	6.621e-05	0.0021	6.757e-05	6.32e-05	0.0017	0.0015	0.0021	0.0002	0	0	0	0	2.386e-05	0.0002	2.47e-05	0.0009	0.0009	0.0010	0.0009	0.0033	0.0008	0.0008	0.0028	0.0027	0.0033	0	0.0003	0	0	0	0	1.47e-05	0.0009	0	0.052	0.39097	T	0.168	0.30631	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	0	0.06538	N	-2.46	0.88924	D	-0.29	0.71997	N	0.146	0.14763	-0.2836	0.75442	T	0.402	0.75309	T	7	0.007959813	0.00181	T	0.216791	0.87576	D	0.288	0.60691	.	.	0.569341392405	0.56599	0.15823194019030412	0.15744	0.552897332157	0.52078	0.335795581341	0.15808	T	0.121244	0.44407	T	-0.328363	0.06236	T	-0.249374	0.49878	T	0.0227765387134694	0.00997	T	0.749125	0.39073	T	0.04052661	0.05800	0.07842481	0.17563	0.04052661	0.05800	0.07842481	0.17563	-5.169	0.38625	T	.	.	0.084	0.14933	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.506136	0.32358	19.02	0.99489336597221112	0.67347	0.33080	0.24741	N	AEFDBI	0.063341	0.12235	N	-0.108168832384271	0.37037	2.149063	-0.0234473858405391	0.38659	2.280771	0.998677165756978	0.37434	0.706548	0.73137	0	0.653731	0.59785	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.77	4.88	0.63131	3.011000	0.49254	5.037000	0.46877	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.08:0.0:0.92:0.0	12.341	0.54419	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	1	0	0	0	0	0	0	0.02381	2253.98	37	chr14	21431303	.	G	A	2253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=900;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=-8.850e-01;SOR=0.667	GT:AD:DP:GQ:PL	0/1:113,90:203:99:2268,0,2747	20	0	1	0
chr14	22634468	22634468	G	T	exonic	OR6J1	.	nonsynonymous SNV	OR6J1:NM_001348233:exon1:c.C344A:p.T115K,	.	.	430	1035	53	3	1	60	0.0277125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	4.99	T	-0.982	T	0.009	T	0.52	1.594	11.29	3.26	0.676	1.987	10.711	0.128	.	.	0.00499201	0.0110	0.0043	0.0194	0	0.0018	0.0288	0.0206	0.0030	0.0031047	480	154602	rs45479894	0.0103	0.0092	0.0104	0.0103	0.0245	0.0101	0.0100	0.0207	0.0192	0.0023	0.0061	0.0462	0	0.0028	0.0245	0.0118	0.0129	0.0030	0.0084	0.0084	0.0087	0.0081	0.0124	0.0080	0.0078	0.0117	0.0114	0.0019	0	0.0071	0.0464	0	0.0038	0.0272	0.0124	0.0128	0.0025	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.99	0.01332	T	-1.91	0.44471	N	0.41	0.45047	-0.9822	0.34491	T	0.009	0.03359	T	6	0.0034414232	0.00060	T	.	.	.	0.128	0.35103	.	.	0.0611884634855	0.05136	0.4842431135119104	0.48344	0.01446655118	0.01372	.	.	.	.	.	.	-0.486769	0.00677	T	-0.460956	0.26495	T	0.0432082476261269	0.04276	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.59511	A	.	.	2.151244	0.27404	17.45	0.94737256575521955	0.25423	0.34184	0.25007	N	AEFBHCIJ	0.138869	0.26029	N	-0.37963253818172	0.26195	1.427819	-0.514522690528442	0.21758	1.178588	0.994974875595424	0.33890	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.19	3.26	0.36471	2.570000	0.45645	0.848000	0.22109	-0.870000	0.02561	0.070000	0.22072	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.8074:0.1926	10.711	0.45179	899	0.25060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2353.98	37	chr14	22634468	.	G	T	2353.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.66;DP=1160;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=-4.740e-01;SOR=0.654	GT:AD:DP:GQ:PL	0/1:98,84:182:99:2368,0,2404	20	0	1	0
chr14	23042569	23042569	G	A	exonic	PSMB11	.	nonsynonymous SNV	PSMB11:NM_001099780:exon1:c.G344A:p.R115Q,	.	.	424	1090	7	1	0	9	0.00411147	.	.	2810269	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.971	D	0.59	P	0.001	D	0.950	N	0.475	N	1.97	T	-1.087	T	0.046	T	0.326	3.768	19.13	5.24	2.454	2.855	12.689	0.100	0.0225218444397	0.0012	0.000798722	0.0018	0.0007	0.0005	0.0020	0.0009	0.0021	0.0022	0.0025	0.0017529	271	154602	rs202220440	0.0019	0.0019	0.0019	0.0020	0.0028	0.0019	0.0019	0.0025	0.0024	0.0003	0.0007	3.828e-05	0.0009	0.0007	0.0021	0.0022	0.0011	0.0028	0.0014	0.0014	0.0013	0.0015	0.0037	0.0013	0.0012	0.0024	0.0020	0.0006	0	0.0005	0.0003	0.0013	9.409e-05	0	0.0022	0.0009	0.0037	0.04	0.42199	D	0.032	0.53426	D	0.971	0.57185	D	0.59	0.50460	P	0.000822	0.41547	D	0.174739	0.950041	0.26517	N	0.55	0.14455	N	1.97	0.22067	T	0.38	0.03579	N	0.273	0.30914	-1.0875	0.05960	T	0.046	0.19680	T	10	0.0143787265	0.00303	T	0.022522	0.45416	T	0.100	0.28662	.	.	0.580281640613	0.57699	0.5769268162885889	0.57621	0.595449407768	0.54820	0.467669606209	0.34360	T	0.043697	0.26582	T	-0.495346	0.00607	T	-0.489233	0.23473	T	0.0223918970949931	0.00953	T	0.916508	0.70155	D	0.19990437	0.41946	0.12512404	0.30151	0.19990437	0.41946	0.12512404	0.30150	-2.607	0.06556	T	.	.	0.104	0.18663	B	.	.	4.707604	0.75589	26.4	0.99949124476078999	0.99931	0.66253	0.33014	D	AEFDBCI	0.221739	0.34632	N	0.333856847966125	0.57894	3.958678	0.396283842639736	0.61335	4.332199	0.999999718240746	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.24	5.24	0.72863	2.898000	0.48370	9.989000	0.82972	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.967000	0.53440	0.0:0.0:0.835:0.165	12.689	0.56329	798	0.45050	.	.	.	.	.	.	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	1852.98	34	chr14	23042569	.	G	A	1852.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=967;ExcessHet=0.0000;FS=3.438;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=2.37;SOR=0.485	GT:AD:DP:GQ:PL	0/1:109,74:183:99:1867,0,2849	20	0	1	0
chr14	24057240	24057240	A	G	exonic	CARMIL3	.	nonsynonymous SNV	CARMIL3:NM_138360:exon14:c.A1136G:p.D379G,	.	.	426	1087	9	0	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.993	D	0.977	D	0.000	D	1.000	D	1.28	L	0.83	T	-0.816	T	0.153	T	0.873	2.082	12.92	4.98	2.092	2.556	10.974	0.346	0.0341981606927	0.0065	0.00319489	0.0063	0.0015	0.0045	0	0.0012	0.0093	0.0083	0.0039	0.0012354	191	154602	rs45508393	0.0077	0.0077	0.0077	0.0077	0.0088	0.0076	0.0076	0.0087	0.0086	0.0022	0.0051	0.0102	0	0.0021	0.0066	0.0088	0.0072	0.0039	0.0056	0.0057	0.0059	0.0053	0.0088	0.0053	0.0052	0.0079	0.0077	0.0018	0	0.0088	0.0078	0	0.0015	0.0102	0.0085	0.0076	0.0029	0.024	0.47745	D	0.031	0.53788	D	0.993	0.65571	D	0.977	0.73820	D	0.000009	0.62929	D	0.063724	1	0.81001	D	.	.	.	0.83	0.47815	T	-4.07	0.74661	D	0.691	0.69649	-0.8159	0.54189	T	0.153	0.48291	T	10	0.009319514	0.00210	T	0.034198	0.55511	D	0.346	0.66769	.	.	0.584243892073	0.58097	0.7158375269116998	0.71526	0.972712254251	0.73431	0.490209281445	0.37467	T	0.215959	0.57798	T	-0.124619	0.32371	T	0.0576115	0.74085	D	0.0296919420277005	0.01942	T	.	.	.	0.2940941	0.52370	0.22869088	0.47918	0.2940941	0.52370	0.22869088	0.47917	-9.351	0.69927	D	.	.	0.616	0.69530	P	.	.	3.297448	0.45254	22.1	0.98456250540598444	0.41688	0.92806	0.56591	D	AEFBI	0.558630	0.56777	D	0.270846661279918	0.54676	3.632732	0.199700012435922	0.49832	3.181711	0.999999917331568	0.74766	0.713056	0.82018	0	0.610034	0.51514	0	0.608524	0.38960	0	0.542086	0.14980	0	.	.	4.98	4.98	0.65679	7.588000	0.81905	11.202000	0.89070	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	1.0:0.0:0.0:0.0	10.974	0.46670	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	994.98	36	chr14	24057240	.	A	G	994.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=964;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=0.810;SOR=0.661	GT:AD:DP:GQ:PL	0/1:41,38:79:99:1009,0,1036	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	0/1:116,44:160:24:.:.:24,0,2772	4	0	11	6
chr14	39247959	39247959	A	G	exonic	MIA2	.	nonsynonymous SNV	MIA2:NM_001329214:exon4:c.A1385G:p.Y462C	.	.	431	1089	2	0	0	2	0.000917431	.	.	3289206	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.002	B	0.003	B	0.557	N	1.000	N	1.79	L	3.28	T	-1.018	T	0.102	T	0.175	1.234	10.01	1.79	0.279	0.198	4.709	0.018	0.00868791686634	7.7e-05	.	8.326e-06	9.956e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs140072290	8.993e-06	1.163e-05	1.1e-05	6.959e-06	0.0003	5.02e-06	3.87e-06	0.0001	0.0001	0.0003	0	0	0	0	0	1.805e-06	1.676e-05	1.226e-05	0.0001	0.0001	0.0001	0.0001	0.0004	8.664e-05	7.256e-05	0.0003	0.0002	0.0004	0	0.0001	0	0	0	0	1.47e-05	0	0	0.007	0.63226	D	0.146	0.32891	T	0.002	0.09854	B	0.003	0.08700	B	0.557473	0.05405	N	1.346810	1	0.08975	N	1.65	0.42232	L	3.28	0.44065	T	-1.92	0.44657	N	0.186	0.27197	-1.0184	0.24236	T	0.102	0.37669	T	9	0.0501799	0.04714	T	0.008688	0.22952	T	0.018	0.03083	.	.	0.210429274316	0.20668	0.08192213510084377	0.08127	0.164205623222	0.18528	0.327414035797	0.14543	T	0.074852	0.35037	T	-0.485373	0.00689	T	-0.566231	0.15796	T	0.0381222479045391	0.03354	T	0.794321	0.43637	T	0.062140252	0.12947	0.066691265	0.13697	0.062140252	0.12947	0.066691265	0.13697	-6.027	0.49471	T	.	.	0.069	0.06990	B	.;.;.	.;.;.	1.514975	0.19458	14.27	0.9763366745375972	0.35034	0.04937	0.10695	N	AEFGBI	0.236059	0.35856	N	-0.823974508997519	0.12699	0.6206739	-0.812544312706616	0.14192	0.7402736	0.457940626167549	0.20598	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	4.18	1.79	0.23992	0.184000	0.16748	3.334000	0.37651	-0.113000	0.14837	0.053000	0.21524	0.989000	0.31174	0.965000	0.52897	0.496:0.2203:0.2837:0.0	4.709	0.12244	789	0.46346	.;.;.	.	.	.	.	.	Uncertain significance	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	863.98	42	chr14	39247959	.	A	G	863.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.108;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=1.05;SOR=0.698	GT:AD:DP:GQ:PL	0/1:39,35:74:99:878,0,1083	20	0	1	0
chr14	44504921	44504956	CTCCTCAGCTGGTAGAGACTGAACTTCAGCAGGGGC	-	exonic	FSCB	.	nonframeshift deletion	FSCB:NM_032135:exon1:c.2032_2067del:p.A678_E689del,	.	.	.	.	.	.	.	.	.	.	.	702872	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0205	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs866319674	0.0003	0.0004	0.0004	0.0003	0.0106	0.0003	0.0003	0.0097	0.0093	0.0106	0.0010	0	0	0	0.0013	2.068e-05	0.0007	2.32e-05	0.0061	0.0082	0.0063	0.0059	0.0215	0.0058	0.0056	0.0203	0.0198	0.0215	0	0.0020	0	0	0	0.0103	8.844e-05	0.0048	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1176.94	74	chr14	44504920	.	TCTCCTCAGCTGGTAGAGACTGAACTTCAGCAGGGGC	T	1176.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.836;DP=1464;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.12;MQRankSum=0.940;QD=11.54;ReadPosRankSum=0.146;SOR=0.690	GT:AD:DP:GQ:PL	0/1:68,34:102:99:1191,0,2716	20	0	1	0
chr14	45175794	45175794	G	T	exonic	FANCM	.	nonsynonymous SNV	FANCM:NM_001308133:exon13:c.G2962T:p.G988C	.	.	0	1518	4	0	0	4	0.00131579	.	.	241837	not_provided|Fanconi_anemia|not_specified|FANCM-related_disorder	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.001	B	0.003	B	0.026	N	1.000	N	0.895	L	2.76	T	-1.021	T	0.014	T	0.113	-0.752	0.811	-0.457	-0.061	-0.089	4.677	0.030	.	0.0037	0.00499201	0.0014	0.0156	0.0006	0	0	0	0	6.061e-05	0.001313	203	154602	rs77532752	0.0004	0.0004	0.0005	0.0003	0.0149	0.0004	0.0004	0.0138	0.0134	0.0149	0.0008	0	0	0	0.0005	2.698e-06	0.0009	4.638e-05	0.0037	0.0037	0.0038	0.0037	0.0129	0.0035	0.0034	0.0120	0.0117	0.0129	0	0.0012	0	0	0	0.0034	2.942e-05	0.0028	0.0002	0.061	0.37326	T	0.116	0.36901	T	0.001	0.07471	B	0.003	0.08700	B	0.026000	0.01641	N	1.940980	1	0.08975	N	0.55	0.14455	N	2.76	0.18875	T	-2.11	0.50175	N	0.136	0.28849	-1.0210	0.23389	T	0.014	0.05705	T	10	0.0043438375	0.00088	T	.	.	.	0.030	0.07022	.	.	0.397838977388	0.39401	0.41709074337779184	0.41625	0.0920060912428	0.10386	0.226987525821	0.01753	T	0.252386	0.62277	T	-0.654553	0.00068	T	-0.700672	0.05789	T	0.000781367293533466	0.00007	T	0.572443	0.21465	T	0.1622571	0.36289	0.076701425	0.17015	0.12618388	0.29562	0.11162583	0.26927	-4.481	0.31149	T	.	.	0.109	0.32756	B	.;.;.	.;.;.	0.113837	0.05128	1.654	0.56016743423962478	0.05463	0.02756	0.07444	N	AEFBI	0.048297	0.08225	N	-1.14097014127243	0.05930	0.271651	-1.1815223663894	0.06218	0.2986347	0.0384491583654429	0.14347	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.76	-0.457	0.11578	0.098000	0.15027	0.200000	0.15841	-0.202000	0.08738	0.000000	0.06391	0.002000	0.18203	0.007000	0.07825	0.4254:0.0:0.4293:0.1454	4.677	0.12101	820	0.40914	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	1611.98	34	chr14	45175794	.	G	T	1611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.459e+00;DP=877;ExcessHet=0.0000;FS=2.086;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.54;ReadPosRankSum=0.823;SOR=0.509	GT:AD:DP:GQ:PL	0/1:85,68:153:99:1626,0,2282	20	0	1	0
chr14	45185264	45185264	A	C	exonic	FANCM	.	nonsynonymous SNV	FANCM:NM_001308133:exon17:c.A4485C:p.E1495D	.	.	49	1471	2	0	0	2	0.000679348	.	.	241840	Fanconi_anemia|FANCM-related_disorder|not_provided|not_specified	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.792	P	0.138	B	0.216	N	1.000	N	1.625	L	-1.23	T	-0.945	T	0.101	T	0.118	1.528	11.06	0.558	-0.136	0.192	5.418	0.255	.	0.0036	0.00439297	0.0014	0.0153	0.0005	0	0	0	0	6.678e-05	0.0012225	189	154602	rs113986680	0.0004	0.0004	0.0005	0.0003	0.0142	0.0004	0.0004	0.0131	0.0127	0.0142	0.0007	0	0	0	0.0005	2.716e-06	0.0009	4.673e-05	0.0036	0.0036	0.0036	0.0035	0.0123	0.0033	0.0032	0.0115	0.0111	0.0123	0	0.0012	0	0	0	0.0034	2.94e-05	0.0028	0.0002	0.102	0.37118	T	0.29	0.27943	T	0.792	0.44688	P	0.138	0.33406	B	0.216383	0.16242	N	0.625780	0.980936	0.25076	N	2.205	0.62170	M	-1.23	0.78860	T	-1.4	0.34596	N	0.305	0.34444	-0.9452	0.41781	T	0.101	0.37443	T	10	0.007030189	0.00160	T	.	.	.	0.255	0.56562	0.153	0.05648	0.678621362334	0.67589	0.1002294309425725	0.09953	0.17011552983	0.19178	0.310345709324	0.11959	T	0.055681	0.30076	T	-0.472658	0.00818	T	-0.44004	0.28803	T	0.0265657143338258	0.01483	T	0.655934	0.26825	T	0.06486956	0.13805	0.060166523	0.11413	0.0624157	0.13032	0.06825543	0.14230	-2.159	0.03846	T	.	.	0.118	0.24088	B	.;.;.	.;.;.	1.203153	0.15953	12.22	0.99205258423628617	0.55412	0.73895	0.36144	D	ALL	0.151863	0.27643	N	-0.654461082751842	0.17330	0.8908613	-0.64812780459406	0.18263	0.9749047	0.999150595447767	0.38592	0.615465	0.37627	0	0.593476	0.48661	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.77	0.558	0.16454	0.087000	0.14801	0.750000	0.21229	-1.799000	0.00627	0.980000	0.35271	0.964000	0.29435	0.055000	0.15596	0.6063:0.0:0.2751:0.1186	5.418	0.15681	829	0.39537	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1000.98	33	chr14	45185264	.	A	C	1000.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.559e+00;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.40;ReadPosRankSum=2.11;SOR=0.693	GT:AD:DP:GQ:PL	0/1:21,44:65:99:1015,0,532	20	0	1	0
chr14	50729533	50729533	T	C	exonic	NIN	.	nonsynonymous SNV	NIN:NM_016350:exon28:c.A3929G:p.N1310S	.	.	8	1511	3	0	0	3	0.000991736	.	.	135247	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.81	T	0.998	D	0.987	D	0.073	N	1.000	D	1.935	M	3.19	T	-0.960	T	0.048	T	0.016	1.398	10.61	2.85	0.403	0.636	8.253	0.066	.	0.0069	0.00599042	0.0019	0.0202	0.0009	0	0	3.032e-05	0	6.54e-05	0.001727	267	154602	rs61747997	0.0006	0.0006	0.0007	0.0006	0.0211	0.0006	0.0006	0.0198	0.0193	0.0211	0.0011	0	0	0	0.0012	8.095e-05	0.0013	0.0001	0.0057	0.0057	0.0057	0.0058	0.0200	0.0054	0.0053	0.0189	0.0185	0.0200	0	0.0012	0	0	0	0	0.0001	0.0047	0.0002	0.333	0.29823	T	0.818	0.37872	T	0.998	0.73220	D	0.987	0.77487	D	0.072685	0.21393	N	0.515105	1	0.81001	D	1.545	0.39105	L	1.58	0.29085	T	-1.14	0.34397	N	0.141	0.21969	-0.9599	0.39199	T	0.048	0.20474	T	10	0.004493773	0.00092	T	.	.	.	0.066	0.19193	.	.	0.370051654043	0.36618	0.0963691483328524	0.09568	0.102646631919	0.11614	0.263332635164	0.05294	T	0.042161	0.26094	T	-0.650922	0.00072	T	-0.692185	0.06263	T	0.0122459111064374	0.00197	T	0.886311	0.61284	D	0.03190119	0.03116	0.051322427	0.08236	0.031445563	0.02986	0.046964552	0.06661	-1.932	0.03367	T	.	.	0.068	0.06571	B	.;.;.;.;.;.	.;.;.;.;.;.	1.261522	0.16596	12.64	0.97510651794910519	0.34347	0.67325	0.33392	D	AEFBHCI	0.070007	0.13880	N	-0.520228904020131	0.21426	1.13702	-0.542619735817094	0.21002	1.13411	0.912929871792544	0.26408	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.23	2.85	0.32333	0.754000	0.26056	-0.153000	0.11399	0.665000	0.62972	1.000000	0.71638	0.730000	0.26410	0.009000	0.08673	0.0:0.172:0.0:0.828	8.253	0.30895	436	0.80373	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1260.98	33	chr14	50729533	.	T	C	1260.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.773;DP=769;ExcessHet=0.0000;FS=4.830;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.76;ReadPosRankSum=-2.550e-01;SOR=1.191	GT:AD:DP:GQ:PL	0/1:27,44:71:99:1275,0,664	20	0	1	0
chr14	50729698	50729698	G	A	exonic	NIN	.	nonsynonymous SNV	NIN:NM_016350:exon28:c.C3764T:p.T1255M	.	.	14	1501	7	0	0	7	0.00232635	.	.	135245	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.27	T	0.049	B	0.011	B	0.946	N	1.000	D	-0.255	N	3.56	T	-0.958	T	0.005	T	0.185	0.191	5.031	-1.67	-0.152	0.161	10.519	0.042	.	0.0082	0.00678914	0.0046	0.0224	0.0044	0.0003	0	0.0012	0.0014	0.0129	0.0037128	574	154602	rs61744312	0.0028	0.0028	0.0026	0.0029	0.0216	0.0027	0.0027	0.0203	0.0198	0.0216	0.0035	3.855e-05	0.0002	5.629e-05	0.0023	0.0020	0.0033	0.0091	0.0073	0.0073	0.0070	0.0075	0.0208	0.0069	0.0068	0.0196	0.0191	0.0208	0	0.0054	0	0.0006	0	0	0.0016	0.0052	0.0075	0.579	0.32610	T	0.175	0.29945	T	0.001	0.14655	B	0.001	0.10090	B	0.946106	0.08320	N	0.975835	1	0.81001	D	0.11	0.08516	N	3.56	0.11515	T	-0.64	0.25986	N	0.175	0.26717	-0.9580	0.39552	T	0.005	0.01578	T	10	0.0028357506	0.00045	T	.	.	.	0.042	0.11227	.	.	0.194818534648	0.19098	0.12958473197697273	0.12883	0.126302431423	0.14236	0.305399239063	0.11211	T	0.021026	0.16449	T	-0.615783	0.00117	T	-0.64105	0.09592	T	0.00216859548528956	0.00022	T	0.733627	0.34942	T	0.008595569	0.00001	0.027851343	0.00970	0.007656286	0.00000	0.031184245	0.01673	-4.848	0.35498	T	.	.	0.063	0.01408	B	.;.;.;.;.;.	.;.;.;.;.;.	0.306673	0.06821	3.345	0.68011307886225958	0.08528	0.36403	0.25525	N	AEFGBHCI	0.015136	0.00274	N	-1.09915871518642	0.06660	0.3071757	-0.963183899599377	0.10618	0.5359496	0.932509544491892	0.27091	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.23	-1.67	0.07798	0.089000	0.14843	0.058000	0.14093	-2.455000	0.00279	0.967000	0.34061	0.070000	0.22201	0.097000	0.18139	0.5201:0.0:0.4799:0.0	10.519	0.44095	436	0.80373	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1276.98	33	chr14	50729698	.	G	A	1276.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.68;ReadPosRankSum=-6.700e-01;SOR=0.719	GT:AD:DP:GQ:PL	0/1:37,50:87:99:1291,0,820	20	0	1	0
chr14	56580048	56580048	C	T	exonic	TMEM260	.	nonsynonymous SNV	TMEM260:NM_017799:exon1:c.C134T:p.P45L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.818	P	0.373	B	0.000	D	1.000	D	0.805	L	1.55	T	-1.093	T	0.065	T	0.579	0.459	6.490	4.38	1.207	2.413	7.822	0.230	0.241388146763	8e-05	.	0.0003	0.0010	0	0	0	0	0	0	1.94e-05	3	154602	rs369846175	2.092e-05	1.779e-05	2.069e-05	2.117e-05	7.405e-05	1.393e-05	1.163e-05	1.226e-05	9.18e-06	4.3e-05	0	0	7.405e-05	0	0	1.843e-05	6.818e-05	0	1.97e-05	1.97e-05	2.568e-05	1.344e-05	7.232e-05	5.24e-06	2.45e-06	1.918e-05	1.031e-05	7.232e-05	0	0	0	0	0	0	0	0	0	0.661	0.04685	T	0.661	0.06490	T	0.818	0.45651	P	0.373	0.43650	B	0.000194	0.48115	D	0.142348	0.999993	0.81001	D	1.935	0.51832	L	1.55	0.42888	T	-0.75	0.21215	N	0.493	0.56403	-1.0927	0.05097	T	0.065	0.26878	T	10	0.1501733	0.28408	T	0.241388	0.88715	D	0.230	0.53062	.	.	0.0884992946249	0.08302	0.4973646095926878	0.49657	0.0604557079922	0.06722	0.756614863873	0.75425	T	0.007697	0.07089	T	-0.0674857	0.41728	T	-0.334715	0.40941	T	0.540393114089966	0.34118	D	0.907809	0.67374	D	0.083898336	0.19395	0.087920725	0.20469	0.083898336	0.19395	0.087920725	0.20468	-8.079	0.61608	D	.	.	0.252	0.48715	B	.;.	.;.	3.299696	0.45293	22.1	0.83890260899809543	0.14977	0.68844	0.33957	D	AEFDGBHCI	0.225306	0.34941	N	-0.272638591539961	0.30209	1.68228	-0.220225148526836	0.30812	1.738098	0.999999999833044	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.26	4.38	0.52019	2.521000	0.45224	5.906000	0.50954	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.696000	0.34018	0.16:0.7567:0.0:0.0832	7.822	0.28456	853	0.34956	.;.	.	.	.	.	.	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	861.98	35	chr14	56580048	.	C	T	861.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.553;DP=760;ExcessHet=0.0000;FS=1.069;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.67;ReadPosRankSum=1.02;SOR=0.960	GT:AD:DP:GQ:PL	0/1:23,32:55:99:876,0,583	20	0	1	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	0/1:55,21:76:99:114,0,1039	0	0	21	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.021	B	0.012	B	0.041	N	1.000	D	1.7	L	1.39	T	-1.084	T	0.073	T	0.364	1.006	9.108	3.35	0.508	0.640	7.200	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.35	4406.61	113	chr14	64158707	.	T	C	4406.61	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-3.043e+00;DP=2681;ExcessHet=14.4320;FS=209.673;InbreedingCoeff=-0.5275;MLEAC=14;MLEAF=0.350;MQ=60.00;MQRankSum=0.00;QD=2.47;ReadPosRankSum=1.08;SOR=12.830	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:88,39:127:99:.:.:650,0,2676	6	0	14	1
chr14	64158708	64158708	G	A	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876A:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2288662	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.35	T	0.325	B	0.108	B	0.041	N	1.000	D	1.7	L	1.39	T	-1.072	T	0.088	T	0.327	1.982	12.59	4.86	1.535	3.990	14.318	0.077	0.00845025875398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.033	0.53072	D	0.325	0.33132	B	0.108	0.31289	B	0.041119	0.23984	N	0.401918	1	0.81001	D	2.35	0.67516	M	1.39	0.33842	T	-1.61	0.43524	N	0.431	0.49965	-1.0717	0.09043	T	0.088	0.33968	T	10	0.25304455	0.42666	T	0.00845	0.22357	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.2659272823830213	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102013	0.36092	T	-0.384311	0.35217	T	0.684482932090759	0.39994	D	0.879912	0.59649	D	0.19624485	0.41445	0.17938405	0.40669	0.19624485	0.41444	0.17938405	0.40668	-3.183	0.12274	T	.	.	0.388	0.58884	A	.;.;.;.;.	.;.;.;.;.	2.504241	0.32334	19.01	0.96935941736678333	0.31676	0.86357	0.45621	D	AEFGBI	0.264582	0.38189	N	-0.124265557851592	0.36337	2.099065	-0.0236316895668092	0.38649	2.280163	0.900501724960891	0.26077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	4.86	0.62624	4.416000	0.59567	4.462000	0.43463	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8511:0.1489	14.318	0.66020	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.119	1661.7	40	chr14	64158708	.	G	A,C	1661.7	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-3.900e+00;DP=1564;ExcessHet=1.1607;FS=200.874;InbreedingCoeff=-0.1364;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=2.84;ReadPosRankSum=1.79;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:88,29,4:121:99:.:.:611,0,2685,312,2745,3055	16	0	4	0
chr14	64158708	64158708	G	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876C:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.325	B	0.108	B	0.041	N	1.000	D	1.7	L	1.39	T	-1.072	T	0.088	T	0.327	1.862	12.18	4.86	1.535	3.990	14.318	0.077	0.0083565949609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.033	0.53072	D	0.325	0.33132	B	0.108	0.31289	B	0.041119	0.23984	N	0.401918	1	0.81001	D	2.35	0.67516	M	1.39	0.33842	T	-1.61	0.43524	N	0.431	0.49965	-1.0717	0.09043	T	0.088	0.33968	T	10	0.2520115	0.42548	T	0.008357	0.22130	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.26592724106991794	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102008	0.36092	T	-0.384304	0.35219	T	0.651877224445343	0.38542	D	0.879912	0.59649	D	0.19624485	0.41445	0.17938405	0.40669	0.19624485	0.41444	0.17938405	0.40668	-3.183	0.12274	T	.	.	0.388	0.58884	A	.;.;.;.;.	.;.;.;.;.	2.298733	0.29410	18.11	0.97187594042519665	0.32749	0.88851	0.48981	D	AEFGBI	0.256398	0.37533	N	-0.124265557851592	0.36337	2.099065	-0.0236316895668092	0.38649	2.280163	0.900501724960891	0.26077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	4.86	0.62624	4.416000	0.59567	4.462000	0.43463	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8511:0.1489	14.318	0.66020	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.119	1661.7	40	chr14	64158708	.	G	A,C	1661.7	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-3.900e+00;DP=1564;ExcessHet=1.1607;FS=200.874;InbreedingCoeff=-0.1364;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=2.84;ReadPosRankSum=1.79;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:88,29,4:121:99:.:.:611,0,2685,312,2745,3055	16	0	4	0
chr14	64212974	64212974	G	A	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon105:c.G19025A:p.R6342Q	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	1	1519	2	0	0	2	0.000657895	.	.	936681	not_provided|Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant|not_specified	MedGen:C3661900|MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	1.955	M	1.41	T	-0.800	T	0.197	T	0.821	5.752	36	5.64	2.655	9.488	19.714	0.622	0.082052853762	.	.	.	.	.	.	.	.	.	.	.	.	.	rs987547244	1.779e-05	1.779e-05	1.906e-05	1.65e-05	0.0004	1.238e-05	1.052e-05	6.272e-05	2.588e-05	2.988e-05	0	0	0	0	0.0004	1.439e-05	1.657e-05	6.956e-05	6.57e-06	6.567e-06	0	1.345e-05	6.542e-05	0	0	.	.	0	0	6.542e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000296	0.46274	D	0.000000	1	0.81001	D	2.56	0.74772	M	1.41	0.33412	T	-3.68	0.70314	D	0.563	0.66101	-0.8001	0.55139	T	0.197	0.55244	T	10	0.62362784	0.68118	D	0.082053	0.73817	D	0.622	0.85354	0.448	0.50793	0.641312022691	0.63835	0.3782504082492022	0.37740	0.26154194651	0.28701	0.603520512581	0.53401	T	0.306431	0.67863	T	0.102984	0.64613	D	0.00700741	0.70790	D	0.980678260326385	0.73487	D	0.984402	0.94639	D	0.47896773	0.65837	0.5276855	0.72711	0.47896773	0.65838	0.5276855	0.72712	-11.041	0.79882	D	.	.	0.224	0.45507	B	.;.;.	.;.;.	5.454649	0.91095	32	0.99948737440490609	0.99931	0.99865	0.99888	D	AEFDGBI	0.933279	0.92494	D	0.811536981684826	0.86824	9.011	0.795661068356828	0.89489	9.996439	1.0	0.98316	0.744818	0.98587	0	0.724815	0.89359	0	0.732433	0.93434	0	0.695668	0.68540	0	.	.	5.64	5.64	0.86480	9.620000	0.97794	11.816000	0.97088	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.279000	0.23992	0.0:0.0:1.0:0.0	19.714	0.96102	607	0.67291	.;.;.	.	.	.	.	.	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	588.98	36	chr14	64212974	.	G	A	588.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.175;DP=698;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=0.466;SOR=0.846	GT:AD:DP:GQ:PL	0/1:20,22:42:99:603,0,498	20	0	1	0
chr14	64743252	64743252	G	A	exonic	PLEKHG3	.	nonsynonymous SNV	PLEKHG3:NM_001308147:exon17:c.G3209A:p.R1070Q,	.	.	394	1116	12	0	0	12	0.00534759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.997	D	0.756	P	0.798	N	1.000	N	0.55	N	1.53	T	-0.985	T	0.147	T	0.089	0.318	5.724	2.17	1.264	0.657	5.384	0.034	.	0.0005	0.00219649	0.0018	0.0004	0.0004	0.0001	0.0002	0.0009	0.0037	0.0086	0.001533	237	154602	rs201046500	0.0018	0.0018	0.0015	0.0021	0.0082	0.0017	0.0017	0.0077	0.0075	0.0002	0.0004	3.854e-05	5.043e-05	0.0001	0.0026	0.0016	0.0016	0.0082	0.0010	0.0010	0.0009	0.0012	0.0081	0.0009	0.0008	0.0061	0.0054	0.0003	0	0.0005	0	0	0	0	0.0013	0.0014	0.0081	0.008	0.58626	D	0.563	0.12316	T	0.04	0.70673	B	0.008	0.56253	B	0.798077	0.09345	N	0.896444	1	0.08975	N	1.78	0.46185	L	0.11	0.61208	T	-1.0	0.26422	N	0.12	0.11054	-0.9850	0.33832	T	0.147	0.47183	T	10	0.004076898	0.00080	T	.	.	.	0.034	0.08419	.	.	0.420570264827	0.41677	0.25530919511525985	0.25444	0.17288253818	0.19474	0.293484032154	0.09433	T	0.004732	0.08979	T	-0.547944	0.00300	T	-0.55431	0.16914	T	0.0100963139427839	0.00136	T	0.688631	0.29780	T	0.027935397	0.02056	0.028472759	0.01086	0.027935397	0.02056	0.028472759	0.01086	-4.512	0.31058	T	.	.	0.085	0.10208	B	.;.;.;.	.;.;.;.	1.976171	0.25106	16.64	0.95849086367667713	0.27987	0.06869	0.12894	N	AEFDGBI	0.041765	0.06392	N	-0.65747194087239	0.17243	0.8856254	-0.646637295501987	0.18302	0.9770704	0.851154178650406	0.25047	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.528226	0.09195	0	.	.	5.39	2.17	0.26736	0.319000	0.19270	4.308000	0.42960	-0.135000	0.12811	0.002000	0.15269	1.000000	0.68203	0.005000	0.06747	0.2558:0.1594:0.5848:0.0	5.384	0.15508	406	0.82375	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1234.98	35	chr14	64743252	.	G	A	1234.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.831;DP=976;ExcessHet=0.0000;FS=9.996;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=1.15;SOR=1.306	GT:AD:DP:GQ:PL	0/1:48,47:95:99:1249,0,1198	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	1/1:0,26,0:26:78:1066,78,0,1066,78,1066	0	19	0	0
chr14	77027445	77027445	C	0	exonic	IRF2BPL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6562	12393.38	37	chr14	77027445	.	C	T,*	12393.38	.	AC=20,1;AF=0.625,0.031;AN=32;BaseQRankSum=0.947;DP=915;ExcessHet=1.6165;FS=2.187;InbreedingCoeff=-0.1019;MLEAC=23,1;MLEAF=0.719,0.031;MQ=59.99;MQRankSum=0.00;QD=28.23;ReadPosRankSum=-4.090e-01;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,28,0:28:84:1|1:77027445_C_T:1184,84,0,1185,84,1185:77027445	1	6	8	5
chr14	77027448	77027451	CTGT	0	exonic	IRF2BPL	.	.	.	.	.	513	390	392	223	4	842	0.517923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12349.48	37	chr14	77027448	.	CTGT	C,*	12349.48	.	AC=20,1;AF=0.476,0.024;AN=42;BaseQRankSum=1.24;DP=882;ExcessHet=0.5132;FS=2.187;InbreedingCoeff=0.1429;MLEAC=20,1;MLEAF=0.476,0.024;MQ=59.99;MQRankSum=0.00;QD=28.00;ReadPosRankSum=-4.090e-01;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,28,0:28:84:1|1:77027445_C_T:1184,84,0,1185,84,1185:77027445	6	6	8	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	0/1:103,49:159:99:131,0,1663	5	0	16	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	1/2:0,2,21,0,0,0,0:34:3:.:.:1607,905,795,129,0,3,1084,846,79,1021,1084,846,79,1021,1021,1084,846,79,1021,1021,1021,1084,846,79,1021,1021,1021,1021	1	5	3	0
chr14	92453918	92453918	A	G	exonic	SLC24A4	.	nonsynonymous SNV	SLC24A4:NM_153646:exon11:c.A899G:p.Y300C	Amelogenesis imperfecta, type IIA5, Autosomal recessive	.	431	1080	11	0	0	11	0.00506679	.	.	725862	SLC24A4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.985	D	0.662	P	0.000	D	1.000	D	2.175	M	0.14	T	-0.434	T	0.285	T	0.844	0.787	8.148	5.39	2.043	7.950	15.435	0.344	0.0616598855736	0.0013	0.00139776	0.0017	0.0003	0.0003	0	0	0.0015	0.0022	0.0061	0.0016688	258	154602	rs139572787	0.0018	0.0018	0.0016	0.0019	0.0061	0.0017	0.0017	0.0052	0.0051	0.0001	0.0005	0.0055	2.526e-05	0.0006	0.0061	0.0016	0.0017	0.0057	0.0012	0.0012	0.0011	0.0013	0.0041	0.0011	0.0010	0.0027	0.0023	0.0004	0	0.0007	0.0058	0	0.0007	0.0136	0.0016	0.0009	0.0041	0.095	0.38185	T	0.117	0.39799	T	0.016	0.61118	B	0.012	0.52860	B	0.000213	0.47681	D	0.225081	1	0.81001	D	2.19	0.61577	M	-0.27	0.67367	T	-3.91	0.73042	D	0.656	0.72925	-0.4337	0.70943	T	0.285	0.65675	T	10	0.010277331	0.00229	T	0.06166	0.68404	D	0.344	0.66582	.	.	0.779352818011	0.77731	0.6888588585470462	0.68825	0.729906108514	0.62686	0.580826044083	0.50202	T	0.380718	0.74319	T	-0.0867784	0.38605	T	0.104215	0.77188	D	0.0741529444886833	0.09222	T	0.811819	0.46320	T	0.19234084	0.40900	0.17741047	0.40341	0.20618644	0.42785	0.23304382	0.48481	-3.741	0.19925	T	.	.	0.089	0.12418	B	.;.;.	.;.;.	4.418099	0.68405	25.2	0.64460826668296256	0.07500	0.99503	0.96817	D	AEFDBI	0.922246	0.89692	D	0.0193480640160341	0.42735	2.58056	0.0195608362097615	0.40623	2.427391	0.999999996843307	0.74766	0.554377	0.28877	0	0.573078	0.20572	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.39	5.39	0.77615	8.374000	0.90026	9.252000	0.79496	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.188000	0.21541	1.0:0.0:0.0:0.0	15.435	0.74863	441	0.80015	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1876.98	34	chr14	92453918	.	A	G	1876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.31;DP=807;ExcessHet=0.0000;FS=2.675;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.91;ReadPosRankSum=0.257;SOR=1.024	GT:AD:DP:GQ:PL	0/1:47,64:111:99:1891,0,1095	20	0	1	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	0/1:94,49:144:99:.:.:632,0,1747	0	0	21	0
chr14	100329641	100329641	C	T	exonic	SLC25A47	.	nonsynonymous SNV	SLC25A47:NM_001350877:exon6:c.C485T:p.T162I	.	.	425	1077	20	0	0	20	0.00919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.047	B	0.017	B	0.410	N	1.000	N	0	N	-1.48	T	-0.804	T	0.200	T	0.328	1.586	11.26	3.96	0.972	.	10.355	0.239	.	0.0072	0.00199681	0.0071	0.0019	0.0048	0	0.0136	0.0096	0.0094	0.0018	0.0067787	1048	154602	rs139864899	0.0084	0.0084	0.0084	0.0085	0.0097	0.0083	0.0083	0.0094	0.0093	0.0015	0.0063	0.0018	0	0.0132	0.0097	0.0095	0.0068	0.0023	0.0077	0.0077	0.0076	0.0078	0.0111	0.0073	0.0072	0.0101	0.0098	0.0016	0.0186	0.0111	0.0020	0	0.0146	0.0034	0.0107	0.0085	0.0017	0.0	0.91255	D	0.0	0.92824	D	0.047	0.21998	B	0.017	0.18140	B	0.410159	0.13008	N	0.720818	1	0.08975	N	1.735	0.44892	L	-1.48	0.81478	T	-1.9	0.46673	N	0.202	0.22357	-0.8045	0.54879	T	0.200	0.55541	T	10	0.0062085986	0.00140	T	.	.	.	0.239	0.54358	.	.	0.390687800842	0.38684	0.6245740722323257	0.62390	0.459948358211	0.45555	0.438351333141	0.30352	T	0.006668	0.06097	T	-0.277208	0.10966	T	-0.161571	0.58210	T	0.0913713723883252	0.11380	T	0.465053	0.13602	T	0.1960774	0.41421	0.39776215	0.64383	0.1960774	0.41421	0.39776215	0.64383	-6.072	0.46877	T	.	.	0.128	0.43544	B	.;.	.;.	1.700644	0.21659	15.30	0.9948341518441387	0.67014	0.11161	0.16449	N	AEFDBCI	0.599143	0.59227	D	-0.831023090562045	0.12521	0.6108924	-0.79779026650485	0.14549	0.7607732	0.99988755421366	0.44867	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.88	3.96	0.45097	1.125000	0.30946	0.197000	0.15809	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.034000	0.13613	0.3951:0.6049:0.0:0.0	10.355	0.43139	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	773.98	33	chr14	100329641	.	C	T	773.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.289e+00;DP=782;ExcessHet=0.0000;FS=2.278;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=3.22;SOR=0.418	GT:AD:DP:GQ:PL	0/1:32,34:66:99:788,0,889	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	1|1:0,205,0:205:99:1|1:104946204_C_T:9203,617,0,9203,617,9203:104946204	1	7	12	0
chr14	104948130	104948130	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G7021A:p.D2341N	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.999	D	0.9	P	.	.	0.969	N	2.85	M	5.02	T	-1.055	T	0.018	T	0.126	3.688	18.74	2.16	1.642	-0.129	9.618	0.113	0.00261737278771	8.2e-05	0.000399361	5.803e-05	0.0001	8.639e-05	0	0	0	0	0.0003	6.47e-05	10	154602	rs377766612	4.722e-05	4.72e-05	5.175e-05	4.264e-05	0.0001	3.795e-05	3.477e-05	7.124e-05	5.482e-05	8.978e-05	4.473e-05	0	0	0	0	4.587e-05	3.314e-05	0.0001	4.631e-05	4.606e-05	6.471e-05	2.708e-05	0.0002	2.122e-05	1.535e-05	1.975e-05	1.127e-05	2.444e-05	0	0	0	0	0	0	5.894e-05	0.0005	0.0002	0.023	0.48186	D	0.036	0.52060	D	0.999	0.77913	D	0.9	0.63913	P	.	.	.	.	0.96895	0.38695	D	2.475	0.71894	M	5.02	0.01297	T	-2.54	0.55025	D	0.13	0.12484	-1.0550	0.13040	T	0.018	0.07612	T	9	0.08588344	0.14543	T	0.002617	0.05320	T	0.113	0.31778	.	.	0.0482279557977	0.04254	0.0022786517595402215	0.00210	.	.	0.201100111008	0.00490	T	0.038856	0.24988	T	-0.47436	0.00799	T	-0.627013	0.10642	T	0.383171558380127	0.28304	T	0.428957	0.11607	T	0.0407785	0.05886	0.048385974	0.07176	0.0407785	0.05886	0.048385974	0.07175	-7.064	0.54500	T	.	.	0.090	0.12512	B	.	.	1.463192	0.18861	13.96	0.99646569434193055	0.77005	0.05010	0.10788	N	AEFBI	.	.	.	-0.0822196807917966	0.38173	2.231675	-0.353125317906009	0.26412	1.458722	0.00492841025618532	0.10764	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.44	2.16	0.26663	0.799000	0.26688	-4.131000	0.02325	-0.246000	0.07238	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.8382:0.0:0.1618	9.618	0.38868	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	5615.98	299	chr14	104948130	.	C	T	5615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.72;DP=6602;ExcessHet=0.0000;FS=0.517;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=-1.502e+00;SOR=0.724	GT:AD:DP:GQ:PL	0/1:214,211:425:99:5630,0,5233	20	0	1	0
chr14	104948694	104948694	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G6457C:p.G2153R	.	.	425	1085	12	0	0	12	0.00549954	.	.	2807450	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.38	T	1.0	D	1.0	D	.	.	1.000	N	2.805	M	4.51	T	-1.061	T	0.021	T	0.18	2.577	14.58	3.48	1.918	1.075	11.491	0.144	.	0.0074	0.00319489	0.0065	0.0014	0.0059	0	0.0028	0.0099	0.0111	0.0010	0.0067593	1045	154602	rs10145300	0.0087	0.0087	0.0088	0.0085	0.0102	0.0085	0.0085	0.0099	0.0098	0.0017	0.0058	0.0124	2.52e-05	0.0030	0.0102	0.0100	0.0090	0.0011	0.0061	0.0061	0.0065	0.0057	0.0096	0.0058	0.0057	0.0090	0.0088	0.0020	0.0055	0.0048	0.0130	0	0.0032	0.0207	0.0096	0.0072	0.0015	0.007	0.59928	D	0.008	0.67890	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999999	0.58761	D	2.14	0.59869	M	4.51	0.02015	T	-2.85	0.60029	D	0.322	0.36254	-1.0609	0.11532	T	0.021	0.08870	T	9	0.008504093	0.00193	T	.	.	.	0.144	0.38394	.	.	0.28722502521	0.28325	0.007948145334980826	0.00759	.	.	0.217065513134	0.01147	T	0.093413	0.39207	T	-0.568035	0.00227	T	-0.579325	0.14605	T	0.0239606531841052	0.01140	T	0.80292	0.44963	T	0.085326076	0.19787	0.15566954	0.36480	0.085326076	0.19786	0.15566954	0.36479	-8.201	0.62432	D	.	.	0.443	0.61852	A	.	.	2.012715	0.25578	16.81	0.99633417663679735	0.76203	0.08607	0.14513	N	AEFBI	.	.	.	-0.0376549351751105	0.40155	2.379959	-0.279942143447294	0.28759	1.606025	6.77434916025151E-4	0.07599	0.706548	0.73137	0	0.55458	0.17659	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.48	3.48	0.38946	0.021000	0.13381	-1.048000	0.06492	0.429000	0.20894	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.8158:0.1842:0.0	11.491	0.49629	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4550.98	203	chr14	104948694	.	C	G	4550.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.180e-01;DP=5255;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.15;MQRankSum=-7.590e-01;QD=13.83;ReadPosRankSum=-7.490e-01;SOR=0.703	GT:AD:DP:GQ:PL	0/1:156,173:329:99:4565,0,4221	20	0	1	0
chr15	20534613	20534613	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	679.27	87	chr15	20534613	.	C	*,T	679.27	.	AC=7,3;AF=0.175,0.075;AN=40;BaseQRankSum=-3.180e-01;DP=2018;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3332;MLEAC=7,3;MLEAF=0.175,0.075;MQ=54.83;MQRankSum=0.894;QD=0.62;ReadPosRankSum=2.91;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,12,5:86:99:.:.:262,0,2731,309,1986,2665	10	0	7	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|2:77,0,12:89:99:0|1:20534612_TC_*:210,455,3730,0,3075,2986:20534612	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|1:77,12,0:89:99:0|1:20534612_TC_*:210,0,2986,455,3075,3730:20534612	5	0	14	0
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	0/2:26,0,9:35:99:.:.:292,371,1462,0,1091,1064	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	0/1:198,112:310:99:2758,0,5345	1	16	3	1
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	47381.92	167	chr15	23440492	.	C	*,T	47381.92	.	AC=19,19;AF=0.452,0.452;AN=42;BaseQRankSum=1.77;DP=3542;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=19,19;MLEAF=0.452,0.452;MQ=58.25;MQRankSum=-4.110e-01;QD=13.88;ReadPosRankSum=0.477;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:1,82,73:156:99:1|0:23440457_TC_T:5676,2486,2895,3267,0,3041:23440457	0	0	2	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	1/1:0,81,0:83:99:3250,243,0,3010,250,2886	0	10	0	0
chr15	34367051	34367051	C	G	exonic	LPCAT4	.	nonsynonymous SNV	LPCAT4:NM_153613:exon1:c.G50C:p.G17A,	.	.	451	1063	7	1	0	9	0.00421546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.598	P	0.135	B	0.668	N	1.000	N	-1.04	N	-1.25	T	-0.929	T	0.115	T	0.298	-0.725	0.893	3.61	2.052	0.705	7.540	0.210	0.399619492989	.	0.000199681	0.0007	0	0.0013	0.0005	0	0.0012	0.0056	0.0001	0.0001294	20	154602	rs199696158	0.0007	0.0006	0.0007	0.0007	0.0070	0.0007	0.0006	0.0049	0.0042	0.0005	0.0004	0.0055	0.0002	0	0.0070	0.0006	0.0014	0.0001	0.0005	0.0005	0.0004	0.0006	0.0018	0.0004	0.0004	0.0012	0.0011	2.409e-05	0	0.0018	0.0049	0	0	0.0068	0.0004	0.0005	0	0.227	0.18498	T	1.0	0.01155	T	0.043	0.21573	B	0.027	0.21085	B	0.668467	0.10363	N	0.837370	1	0.08975	N	-0.695	0.01866	N	-1.25	0.79072	T	0.54	0.02764	N	0.161	0.16864	-0.9287	0.44328	T	0.115	0.40717	T	10	0.009805411	0.00220	T	0.399619	0.93368	D	0.210	0.50028	.	.	0.332276917938	0.32835	0.6746182455795737	0.67399	3.35281643212E-4	0.00031	0.845378637314	0.88915	D	0.012424	0.10924	T	-0.196729	0.21276	T	-0.194423	0.55173	T	0.0542396334732095	0.06230	T	0.516848	0.16688	T	0.068275765	0.14859	0.13942178	0.33265	0.068275765	0.14859	0.13942178	0.33264	-3.41	0.15191	T	.	.	0.074	0.04975	B	.	.	1.478360	0.19034	14.06	0.59726418079904886	0.06292	0.16734	0.19524	N	AEFDBHCI	0.060712	0.11557	N	-0.889632622103055	0.11088	0.5332372	-0.777692557039351	0.15042	0.7891394	0.999999999991505	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.492483	0.08430	1	.	.	4.54	3.61	0.40494	1.001000	0.29384	1.596000	0.27557	0.476000	0.22017	0.296000	0.25288	0.885000	0.27754	0.442000	0.27716	0.0:0.8834:0.0:0.1166	7.540	0.26902	682	0.59757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1699.11	35	chr15	34367051	.	C	G	1699.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.82;DP=848;ExcessHet=0.1072;FS=0.600;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.99;ReadPosRankSum=0.182;SOR=0.745	GT:AD:DP:GQ:PL	0/1:53,42:95:99:1028,0,1256	19	0	2	0
chr15	34857006	34857006	G	C	exonic	AQR	.	nonsynonymous SNV	AQR:NM_014691:exon35:c.C4244G:p.A1415G,	.	.	435	1086	1	0	0	1	0.000460193	.	.	2248829	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.0	B	0.972	N	1.000	N	0	N	.	.	-1.016	T	0.037	T	0.053	1.280	10.18	-1.87	-0.681	-0.070	4.801	0.021	0.0100092665868	0.0002	.	4.141e-05	0	0	0	0	5.994e-05	0	6.056e-05	3.23e-05	5	154602	rs368732448	1.163e-05	1.163e-05	9.529e-06	1.375e-05	2.319e-05	7.08e-06	5.79e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	1.656e-05	2.319e-05	6.575e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.26	0.16574	T	0.398	0.15109	T	0.0	0.02946	B	0.0	0.01387	B	0.971771	0.08153	N	0.986918	1	0.08975	N	0.805	0.20218	L	-3.32	0.93882	D	-0.96	0.25551	N	0.063	0.03502	-1.0163	0.24916	T	0.037	0.16160	T	9	0.03820154	0.02223	T	0.010009	0.26035	T	.	.	.	.	0.209943299407	0.20609	0.11733458433082673	0.11661	0.0603955230583	0.06713	0.242127358913	0.02985	T	0.071625	0.34254	T	-0.245714	0.14628	T	-0.404824	0.32825	T	0.0173034518957138	0.00470	T	0.564843	0.19943	T	0.026891768	0.01805	0.033514872	0.02260	0.026891768	0.01805	0.033514872	0.02260	-4.116	0.25525	T	.	.	0.076	0.05800	B	.	.	0.337406	0.07112	3.687	0.79810115310552909	0.12911	0.02864	0.07632	N	AEFDBI	0.037528	0.05175	N	-1.47031751915984	0.02062	0.09065552	-1.46635531455523	0.02625	0.1210741	0.992965061173358	0.33034	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	-1.87	0.07317	-0.167000	0.09928	0.442000	0.18435	-0.109000	0.15193	0.004000	0.16614	0.001000	0.17328	0.241000	0.23027	0.1427:0.2905:0.4666:0.1002	4.801	0.12663	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	1402.98	62	chr15	34857006	.	G	C	1402.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.852e+00;DP=1056;ExcessHet=0.0000;FS=0.758;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=-8.880e-01;SOR=0.826	GT:AD:DP:GQ:PL	0/1:49,53:102:99:1417,0,1392	20	0	1	0
chr15	40902922	40902922	C	T	exonic	VPS18	.	stopgain	VPS18:NM_020857:exon5:c.C2503T:p.R835X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	.	.	.	.	0.004	N	1.000	D	.	.	.	.	.	.	.	.	.	8.458	40	2.7	0.756	2.128	9.026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs889132840	2.052e-06	2.052e-06	4.084e-06	0	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	1.313e-05	1.313e-05	2.568e-05	0	6.539e-05	2.18e-06	8.2e-07	.	.	2.411e-05	0	6.539e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.003752	0.34535	N	0.292780	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.833	0.82862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.522349	0.94964	D	0.512542	0.94890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.528012	0.97678	38	0.99708675633141519	0.81143	0.83422	0.42540	D	AEFDGBCIJ	.	.	.	0.664910961853559	0.77336	6.655369	0.501202294351593	0.68070	5.169805	0.999995735812955	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.76	2.7	0.31007	2.182000	0.42186	1.907000	0.29621	0.596000	0.33519	1.000000	0.71638	0.998000	0.33993	0.998000	0.85391	0.3184:0.4416:0.24:0.0	9.026	0.35392	188	0.92666	.	.	.	.	.	.	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	3700.98	34	chr15	40902922	.	C	T	3700.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=971;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=2.99;SOR=0.719	GT:AD:DP:GQ:PL	0/1:131,137:268:99:3715,0,3237	20	0	1	0
chr15	41569023	41569023	-	CCAGCAGGGCCCTCCTCACAGCCGCACATCC	splicing	TYRO3	NM_006293:exon9:c.1252+1->CCAGCAGGGCCCTCCTCACAGCCGCACATCC;NM_001330264:exon9:c.1117+1->CCAGCAGGGCCCTCCTCACAGCCGCACATCC	.	.	.	.	428	1082	12	0	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.858e-06	2.121e-05	8.187e-06	5.515e-06	3.605e-06	3.47e-06	2.53e-06	8.4e-07	5.7e-07	0	0	7.704e-05	0	5.683e-05	0	3.605e-06	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	98.94	35	chr15	41569023	.	G	GCCAGCAGGGCCCTCCTCACAGCCGCACATCC	98.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.45;DP=973;ExcessHet=0.0000;FS=7.303;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.80;MQRankSum=-8.548e+00;QD=0.91;ReadPosRankSum=-2.930e+00;SOR=1.919	GT:AD:DP:GQ:PL	0/1:99,10:109:99:113,0,4052	20	0	1	0
chr15	45111501	45111501	C	T	exonic	DUOX2	.	nonsynonymous SNV	DUOX2:NM_001363711:exon6:c.G598A:p.G200R	Thyroid dyshormonogenesis 6, Autosomal recessive	YES	2	1502	16	2	0	20	0.00661376	.	.	873649	not_provided|Thyroid_dyshormonogenesis_6|Congenital_hypothyroidism|not_specified	MedGen:C3661900|MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:95716|Human_Phenotype_Ontology:HP:0000851,MONDO:MONDO:0018612,MedGen:C0010308,Orphanet:442|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.049	B	0.16	B	0.000	D	1.000	D	1.69	L	.	.	-0.879	T	0.208	T	0.245	1.288	10.21	3.2	0.572	1.092	9.93	0.112	0.0870797157534	.	0.00339457	0.0012	0.0036	0	0.0024	0	0.0008	0	0.0013	0.0008837	23	26028	rs2467827	0.0013	0.0013	0.0013	0.0013	0.0059	0.0013	0.0012	0.0041	0.0035	0.0017	0.0008	0.0001	0	0.0001	0.0059	0.0014	0.0015	0.0019	0.0014	0.0015	0.0016	0.0013	0.0018	0.0013	0.0012	0.0014	0.0013	0.0018	0	0.0014	0	0.0002	0	0	0.0016	0.0038	0.0010	0.156	0.24090	T	0.242	0.24264	T	0.049	0.22227	B	0.16	0.34752	B	0.000016	0.62929	D	0.113958	0.999903	0.50806	D	2.275	0.64647	M	-0.87	0.74583	T	-2.32	0.51478	N	0.332	0.37301	-0.8787	0.49864	T	0.208	0.56744	T	9	0.014877588	0.00312	T	0.08708	0.74864	D	0.112	0.31546	0.649	0.78648	0.612346595452	0.60922	0.4636919790857647	0.46288	0.594377940078	0.54754	0.759534358978	0.75861	T	0.022629	0.48754	T	-0.413907	0.01873	T	-0.373492	0.36481	T	0.019811536912779	0.00683	T	0.735926	0.35246	T	0.18022087	0.39132	0.21244237	0.45714	0.2938596	0.52348	0.22583425	0.47540	-5.963	0.45969	T	0.2094615556041622	0.28042	0.091	0.13315	B	.;.	.;.	1.264082	0.16619	12.66	0.95385010851970486	0.26816	0.56262	0.30072	D	AEFDBHCI	0.197320	0.32425	N	-0.862035055079771	0.11755	0.5690544	-0.827023356808017	0.13841	0.720188	0.999930517080511	0.46732	0.497415	0.19182	0	0.59043	0.45803	0	0.608004	0.38603	0	0.530356	0.10902	0	.	.	5.06	3.2	0.35826	1.131000	0.31019	0.661000	0.20504	-0.996000	0.01829	0.000000	0.06391	0.014000	0.20376	0.029000	0.12982	0.0:0.7691:0.0:0.2309	9.93	0.40686	600	0.68026	Dual oxidase, peroxidase domain;Dual oxidase, peroxidase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1964.11	36	chr15	45111501	.	C	T	1964.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.66;DP=786;ExcessHet=0.1072;FS=8.872;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=53.60;MQRankSum=-4.732e+00;QD=17.69;ReadPosRankSum=2.22;SOR=0.862	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:41,30:71:99:.:.:1116,0,1601	19	0	2	0
chr15	50242769	50242769	T	C	exonic	HDC	.	nonsynonymous SNV	HDC:NM_001306146:exon11:c.A1381G:p.I461V	.	.	419	1095	8	0	0	8	0.00363967	.	.	726117	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.92	T	0.0	B	0.0	B	0.388	N	1.000	N	0	N	3.17	T	-0.919	T	0.007	T	0.04	0.018	4.108	-7.61	-1.232	-0.288	11.267	0.010	0.00507297730241	0.0054	0.00219649	0.0035	0.0015	0.0015	0.0001	0.0006	0.0051	0.0033	0.0028	0.0037904	586	154602	rs145672878	0.0061	0.0061	0.0061	0.0061	0.0074	0.0060	0.0059	0.0073	0.0072	0.0013	0.0016	0.0003	5.038e-05	0.0007	0.0014	0.0074	0.0040	0.0027	0.0038	0.0038	0.0040	0.0037	0.0065	0.0036	0.0035	0.0060	0.0058	0.0016	0.0352	0.0016	0.0003	0.0002	0	0	0.0065	0.0043	0.0021	0.677	0.09514	T	0.964	0.02522	T	0.0	0.02946	B	0.0	0.01387	B	0.387645	0.04458	N	1.346580	1	0.08975	N	0	0.06538	N	3.17	0.08547	T	0.09	0.05917	N	0.041	0.05929	-0.9195	0.45621	T	0.007	0.02439	T	10	0.002978623	0.00048	T	0.005073	0.12846	T	0.010	0.01040	.	.	0.165150595986	0.16160	0.36965503806548033	0.36879	0.228951698828	0.25452	0.305859923363	0.11281	T	0.11933	0.44077	T	-0.766808	0.00014	T	-0.867562	0.00766	T	0.00152915458376426	0.00015	T	0.536546	0.18722	T	0.01790499	0.00314	0.029343601	0.01261	0.018559385	0.00377	0.032490727	0.01993	-2.273	0.04733	T	.	.	0.072	0.18122	B	.;.	.;.	-0.804069	0.01099	0.049	0.4561777270092397	0.03594	0.10169	0.15749	N	AEFGBCI	0.106694	0.21280	N	-1.67840812081696	0.00921	0.03988912	-1.71208880709645	0.01085	0.04871907	0.999998599178172	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.72	-7.61	0.01158	-0.576000	0.05947	-2.092000	0.04225	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.035000	0.13729	0.0:0.5151:0.1963:0.2886	11.267	0.48351	708	0.56926	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	2444.98	36	chr15	50242769	.	T	C	2444.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.109e+00;DP=894;ExcessHet=0.0000;FS=2.475;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=1.11;SOR=0.833	GT:AD:DP:GQ:PL	0/1:96,98:194:99:2459,0,2571	20	0	1	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	1.995	M	-2.06	D	0.483	D	0.707	D	0.844	3.820	19.40	5.77	2.729	6.766	13.230	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3824	1772.96	148	chr15	51480616	.	G	C	1772.96	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-4.061e+00;DP=2481;ExcessHet=11.8493;FS=476.218;InbreedingCoeff=-0.5815;MLEAC=15;MLEAF=0.441;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.533;SOR=13.073	GT:AD:DP:GQ:PL	0/1:97,43:155:99:108,0,1989	4	0	13	4
chr15	52593677	52593677	C	G	exonic	FAM214A	.	nonsynonymous SNV	FAM214A:NM_001385021:exon8:c.G2520C:p.E840D	.	.	438	1081	3	0	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.428	B	0.465	P	0.000	D	1.000	D	1.955	M	1.26	T	-0.930	T	0.130	T	0.705	4.124	21.3	4.79	1.286	0.689	9.169	0.168	0.0292135538313	8.4e-05	0.000199681	0.0005	0	0.0017	0	0	0.0003	0	0.0010	0.0001229	19	154602	rs199670555	0.0002	0.0002	9.546e-05	0.0002	0.0013	0.0001	0.0001	0.0011	0.0010	0	0	0	0	0	0.0009	8.585e-05	0.0002	0.0013	0.0001	0.0001	6.426e-05	0.0002	0.0015	7.574e-05	6.279e-05	0.0007	0.0005	2.408e-05	0	6.536e-05	0	0	0	0	0.0001	0	0.0015	0.008	0.58626	D	0.0	0.92824	D	0.428	0.35540	B	0.465	0.46596	P	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.095	0.58118	M	1.26	0.36330	T	-2.68	0.57275	D	0.698	0.72031	-0.9303	0.44095	T	0.130	0.44009	T	10	0.032668203	0.01424	T	0.029214	0.51767	D	0.168	0.42943	0.442	0.49811	0.151262610727	0.14761	0.6053628043753221	0.60467	0.396212701024	0.40736	0.75298088789	0.74887	T	0.161682	0.50604	T	-0.268661	0.11907	T	-0.177704	0.56734	T	0.136891930061741	0.16004	T	0.973703	0.90499	D	0.48877206	0.66429	0.36265182	0.61667	0.48877206	0.66430	0.36265182	0.61666	-7.557	0.58010	D	.	.	0.642	0.70580	P	.;.;.;.	.;.;.;.	3.778765	0.54322	23.5	0.99859156487359124	0.93820	0.91875	0.54452	D	AEFBI	0.324775	0.42656	N	0.165231935281765	0.49536	3.152824	0.239036476904235	0.52029	3.380565	0.816078603030079	0.24441	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.8	4.79	0.60909	0.706000	0.25365	4.001000	0.41074	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.7674:0.0:0.2326	9.169	0.36233	600	0.68026	Domain of unknown function DUF4210|Domain of unknown function DUF4210;.;Domain of unknown function DUF4210|Domain of unknown function DUF4210;Domain of unknown function DUF4210|Domain of unknown function DUF4210	.	.	.	.	.	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	343.98	39	chr15	52593677	.	C	G	343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.941;DP=716;ExcessHet=0.0000;FS=3.862;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=-4.620e-01;SOR=1.915	GT:AD:DP:GQ:PL	0/1:13,13:26:99:358,0,299	20	0	1	0
chr15	57252466	57252466	A	G	exonic	TCF12	.	nonsynonymous SNV	TCF12:NM_001306219:exon8:c.A724G:p.M242V	Craniosynostosis 3, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2437661	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.39	T	0.843	P	0.926	D	0.000	D	1.000	D	0	N	0.49	T	-0.832	T	0.172	T	0.787	1.686	11.60	5.62	2.127	9.261	15.810	0.238	0.0296376933601	7.7e-05	0.000199681	3.313e-05	9.662e-05	8.693e-05	0	0	3.01e-05	0	0	5.17e-05	8	154602	rs183106387	5.337e-05	5.336e-05	6.671e-05	3.988e-05	6.711e-05	4.345e-05	4.018e-05	4.987e-05	4.569e-05	2.988e-05	6.711e-05	3.827e-05	0	0	0	6.206e-05	4.968e-05	1.16e-05	7.877e-05	7.874e-05	6.423e-05	9.396e-05	0.0001	4.492e-05	3.509e-05	4.765e-05	3.339e-05	9.619e-05	0	6.534e-05	0	0	0	0	0.0001	0	0	0.617	0.11623	T	0.962	0.11656	T	0.811	0.45403	P	0.879	0.62418	P	0.000000	0.84330	D	0.000000	0.999725	0.81001	D	.	.	.	0.49	0.55775	T	-0.56	0.17210	N	0.842	0.84194	-0.8321	0.53165	T	0.172	0.51452	T	10	0.25130153	0.42468	T	0.029638	0.52109	D	0.238	0.54217	.	.	0.608857795387	0.60571	0.6038990948932514	0.60320	0.515241285779	0.49436	0.851229786873	0.89800	D	0.012	0.12608	T	0.0177099	0.54072	T	-0.0308095	0.68315	D	0.577741682529449	0.35531	D	0.942806	0.81346	D	.	.	.	.	.	.	.	.	-8.522	0.64575	D	.	.	0.593	0.70158	P	.;.;.;.;.	.;.;.;.;.	3.658966	0.51965	23.2	0.95481531289571853	0.27044	0.99279	0.93867	D	AEFBIJ	0.911831	0.87163	D	0.412981009388861	0.62133	4.424586	0.527895216589041	0.69874	5.423111	0.999999999999795	0.74766	0.643511	0.44296	0	0.636889	0.57051	0	0.688494	0.62686	0	0.491896	0.07777	0	.	.	5.62	5.62	0.85714	9.239000	0.94505	11.249000	0.90679	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.810	0.78321	583	0.69484	.;.;.;.;.	.	.	.	.	.	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	1330.98	37	chr15	57252466	.	A	G	1330.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.510;DP=808;ExcessHet=0.0000;FS=0.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=0.448;SOR=0.641	GT:AD:DP:GQ:PL	0/1:61,55:116:99:1345,0,1476	20	0	1	0
chr15	66311809	66311809	A	G	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon4:c.A266G:p.N89S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.0	B	0.0	B	0.596	N	1.000	N	0.69	N	1.99	T	-1.020	T	0.045	T	0.055	-0.251	2.793	-8.23	-0.950	-0.339	4.227	0.011	0.00316732767502	.	.	8.242e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs770512116	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.823	0.03068	T	0.437	0.13441	T	0.0	0.02946	B	0.0	0.01387	B	0.596391	0.05621	N	1.215120	1	0.08975	N	-0.715	0.01801	N	1.98	0.42888	T	-0.2	0.12847	N	0.16	0.16725	-1.0196	0.23845	T	0.045	0.19316	T	10	0.02154687	0.00518	T	0.003167	0.06936	T	0.011	0.01250	0.252	0.19067	0.165133752707	0.16062	0.08707328693908545	0.08641	0.130525475997	0.14724	0.292182207108	0.09241	T	0.002413	0.02156	T	-0.469519	0.00856	T	-0.74308	0.03762	T	0.0246056279775579	0.01221	T	0.733327	0.34901	T	0.016114838	0.00177	0.015128896	0.00005	0.016114838	0.00177	0.015128896	0.00005	-2.773	0.09335	T	.	.	0.061	0.01109	B	.;.;.	.;.;.	0.034369	0.04523	1.222	0.61136659980722963	0.06634	0.03064	0.07970	N	AEFBI	0.039809	0.05833	N	-1.32062669376653	0.03440	0.1536503	-1.37660086971923	0.03503	0.1635275	0.997339143672103	0.35509	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.14	-8.23	0.00907	-0.320000	0.08070	-0.425000	0.09259	-0.552000	0.04894	0.000000	0.06391	0.000000	0.08366	0.639000	0.32395	0.1429:0.0811:0.4871:0.2889	4.227	0.10039	621	0.65931	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	841.98	39	chr15	66311809	.	A	G	841.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.193;DP=844;ExcessHet=0.0000;FS=1.628;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.10;ReadPosRankSum=0.792;SOR=0.690	GT:AD:DP:GQ:PL	0/1:64,40:104:99:856,0,1542	20	0	1	0
chr15	74854109	74854109	G	A	exonic	SCAMP2	.	nonsynonymous SNV	SCAMP2:NM_001320778:exon3:c.C137T:p.A46V	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.051	B	0.019	B	0.378	N	0.611	D	1.04	L	2.45	T	-1.044	T	0.029	T	0.298	1.586	11.26	3.42	0.605	4.447	5.250	0.034	0.00749920106007	7.7e-05	0.000599042	0.0002	0.0004	0.0011	0	0	0.0002	0	0	0.000304	47	154602	rs200893940	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	0.0001	0.0008	0	2.519e-05	0	0.0017	0.0001	0.0005	2.319e-05	0.0003	0.0003	0.0003	0.0002	0.0009	0.0002	0.0002	0.0006	0.0004	0.0004	0	0.0009	0	0	0	0	0.0002	0.0009	0	0.12	0.36113	T	0.274	0.29249	T	0.051	0.22415	B	0.019	0.18783	B	0.377510	0.13437	N	0.677027	0.611129	0.32622	D	1.175	0.29870	L	2.45	0.46028	T	-1.27	0.35399	N	0.516	0.54671	-1.0440	0.16118	T	0.029	0.12409	T	10	0.022176653	0.00547	T	0.007499	0.19899	T	0.034	0.08419	.	.	0.303781844768	0.29979	0.22792070076497822	0.22707	0.390989153767	0.40301	0.641013503075	0.58707	T	0.014386	0.15470	T	-0.429803	0.01486	T	-0.453538	0.27305	T	0.0251295825742676	0.01290	T	0.726327	0.36724	T	0.021729274	0.00791	0.045736734	0.06221	0.021729274	0.00791	0.045736734	0.06221	-3.664	0.18788	T	.	.	0.096	0.24532	B	.;.;.;.	.;.;.;.	3.928048	0.57397	23.9	0.96932657236900166	0.31664	0.97331	0.74077	D	AEFBHI	0.611575	0.59997	D	-0.412149132727999	0.25043	1.356534	-0.26982574107581	0.29097	1.627524	0.996973438636251	0.35164	0.706548	0.73137	0	0.697927	0.68747	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.33	3.42	0.38259	4.537000	0.60354	7.622000	0.62351	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0772:0.144:0.6297:0.1491	5.250	0.14832	275	0.89190	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	780.98	36	chr15	74854109	.	G	A	780.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=787;ExcessHet=0.0000;FS=0.962;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=-8.530e-01;SOR=0.898	GT:AD:DP:GQ:PL	0/1:32,31:63:99:795,0,718	20	0	1	0
chr15	75206145	75206145	C	T	exonic	C15orf39	.	nonsynonymous SNV	C15orf39:NM_015492:exon2:c.C97T:p.H33Y,	.	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.037	B	0.04	B	0.486	N	1.000	N	0	N	-0.07	T	-1.045	T	0.097	T	0.088	-0.798	0.683	-1.48	-0.136	0.462	3.977	0.013	0.0238876205015	0.0016	0.00119808	0.0018	0.0007	0.0004	0	0.0002	0.0020	0.0011	0.0040	0.0017335	268	154602	rs141467125	0.0027	0.0027	0.0026	0.0028	0.0045	0.0026	0.0026	0.0041	0.0040	0.0007	0.0002	3.826e-05	0	0.0003	0.0005	0.0031	0.0014	0.0045	0.0016	0.0016	0.0017	0.0015	0.0050	0.0015	0.0014	0.0034	0.0029	0.0005	0	0.0015	0	0	0.0003	0	0.0026	0.0005	0.0050	0.211	0.19569	T	0.885	0.03178	T	0.037	0.20876	B	0.04	0.23831	B	0.486451	0.05011	N	1.341310	1	0.08975	N	0	0.06538	N	-0.07	0.63738	T	-0.23	0.10656	N	0.14	0.18512	-1.0448	0.15884	T	0.097	0.36419	T	10	0.003243655	0.00055	T	0.023888	0.46868	T	0.013	0.01715	.	.	0.082315109003	0.07666	0.12111947052686023	0.12038	0.250783794831	0.27656	.	.	.	0.001357	0.00824	T	-0.532002	0.00374	T	-0.536968	0.18596	T	0.00234065827868914	0.00024	T	0.655934	0.26722	T	0.04798072	0.08291	0.044754628	0.05869	0.04798072	0.08291	0.044754628	0.05868	-2.418	0.05339	T	.	.	0.083	0.11893	B	.;.;.	.;.;.	0.567469	0.09362	6.141	0.35706324613365686	0.02256	0.20733	0.21149	N	AEFDBCI	0.080518	0.16280	N	-1.14233532078988	0.05907	0.2705461	-1.15314298859365	0.06712	0.323984	0.999993941444158	0.74766	0.736574	0.97449	0	0.672317	0.65289	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.73	-1.48	0.08286	0.491000	0.22128	-0.022000	0.12912	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.1147:0.4979:0.2497:0.1376	3.977	0.08971	419	0.81524	.;.;.	.	.	.	.	.	Uncertain significance	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	1688.98	38	chr15	75206145	.	C	T	1688.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.020e-01;DP=841;ExcessHet=0.0000;FS=2.162;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=2.04;SOR=0.947	GT:AD:DP:GQ:PL	0/1:69,69:138:99:1703,0,1745	20	0	1	0
chr15	75207621	75207621	-	CTGAGCCTGACTCTGCCACAG	exonic	C15orf39	.	nonframeshift insertion	C15orf39:NM_015492:exon2:c.1573_1574insCTGAGCCTGACTCTGCCACAG:p.A537_P538insTAEPDSA,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	9.8e-05	0.0004	0	0	0.0016	0.0011	0.0008	0.0001921	5	26028	rs765506149	0.0012	0.0012	0.0012	0.0013	0.0016	0.0012	0.0012	0.0014	0.0014	5.974e-05	0.0006	0.0002	2.519e-05	3.796e-05	0.0016	0.0014	0.0009	0.0011	0.0008	0.0008	0.0010	0.0007	0.0015	0.0007	0.0007	0.0013	0.0012	0.0002	0	0.0007	0	0	0.0002	0.0102	0.0015	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1543.94	149	chr15	75207621	.	A	ACTGAGCCTGACTCTGCCACAG	1543.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.118e+00;DP=2381;ExcessHet=0.0000;FS=1.781;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.16;ReadPosRankSum=-2.771e+00;SOR=0.481	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1558,0,1552	20	0	1	0
chr15	75289428	75289428	G	A	exonic	GOLGA6D	.	nonsynonymous SNV	GOLGA6D:NM_001145224:exon8:c.G596A:p.R199Q,	.	.	457	1063	2	0	0	2	0.00093985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.032	B	0.001	B	.	.	1.000	N	0.49	N	1.99	T	-0.963	T	0.024	T	0.062	0.002	4.022	0.074	0.098	0.857	5.038	0.037	.	.	0.00439297	0.0045	0.0015	0	0.0579	0	0	0.0185	0.0019	0.0010758	28	26028	rs573112682	0.0006	0.0006	0.0006	0.0005	0.0151	0.0005	0.0005	0.0140	0.0136	9.723e-05	0.0001	8.01e-05	0.0151	2.353e-05	0.0004	9.843e-05	0.0009	0.0005	0.0009	0.0009	0.0007	0.0011	0.0186	0.0007	0.0007	0.0155	0.0143	0.0002	0	0.0001	0.0003	0.0186	0	0	0.0001	0.0011	0.0025	0.425	0.09687	T	0.401	0.14961	T	0.032	0.20242	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	1.99	0.21666	T	-0.54	0.16598	N	0.067	0.03956	-0.9631	0.38586	T	0.024	0.10239	T	9	0.0031198263	0.00052	T	.	.	.	0.037	0.09474	0.246	0.18139	0.0138822411134	0.00435	0.031278453539270154	0.03076	2.12843697498	0.95139	0.452956855297	0.32347	T	0.003551	0.02960	T	-0.603536	0.00139	T	-0.757542	0.03201	T	0.00388590974997225	0.00041	T	0.480052	0.14488	T	0.023876747	0.01167	0.02931879	0.01257	0.023876747	0.01167	0.02931879	0.01257	-2.208	0.04079	T	.	.	0.075	0.05404	B	.;.	.;.	1.636013	0.20887	14.95	0.80170013867803869	0.13077	0.00346	0.01789	N	AEFI	0.018732	0.00591	N	-1.23881842889219	0.04448	0.2008015	-1.25707098658918	0.05027	0.2385668	2.31706553982499E-4	0.06095	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.64	0.074	0.13706	2.645000	0.46287	1.671000	0.27955	0.226000	0.18113	0.983000	0.35670	0.017000	0.20586	0.020000	0.11549	0.8151:0.0:0.1849:0.0	5.038	0.13785	508	0.75398	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	696.53	38	chr15	75289428	.	G	A	696.53	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.579;DP=670;ExcessHet=0.0000;FS=2.194;InbreedingCoeff=-0.0332;MLEAC=1;MLEAF=0.025;MQ=37.01;MQRankSum=-1.980e-01;QD=10.55;ReadPosRankSum=0.521;SOR=0.437	GT:AD:DP:GQ:PL	0/1:35,31:66:99:710,0,851	19	0	1	1
chr15	75689424	75689424	G	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.C1641A:p.N547K,	.	.	427	1085	8	2	0	12	0.00549954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	T	0.363	B	0.075	B	0.222	N	0.988	D	1.87	L	0.89	T	-1.071	T	0.073	T	0.161	-0.326	2.454	3.23	0.507	0.522	5.973	0.088	0.0115413820492	0.0011	0.000998403	0.0018	0.0002	0.0004	0	0.0021	0.0015	0.0023	0.0062	0.0015136	234	154602	rs149356457	0.0011	0.0011	0.0009	0.0014	0.0059	0.0011	0.0011	0.0055	0.0053	5.975e-05	6.71e-05	0	0	0.0021	0.0007	0.0009	0.0008	0.0059	0.0010	0.0010	0.0010	0.0011	0.0060	0.0009	0.0008	0.0043	0.0037	2.406e-05	0	6.536e-05	0	0	0.0024	0	0.0015	0.0005	0.0060	0.191	0.21066	T	0.007	0.69154	D	0.363	0.33965	B	0.075	0.28327	B	0.221645	0.16124	N	0.608532	0.988332	0.40745	D	2.52	0.73523	M	0.89	0.45636	T	-2.26	0.50502	N	0.237	0.26717	-1.0705	0.09304	T	0.073	0.29515	T	10	0.0096978545	0.00218	T	0.011541	0.29267	T	0.088	0.25558	0.548	0.66296	0.358540694251	0.35469	0.38825812195644643	0.38740	0.383846054443	0.39699	0.479140639305	0.35938	T	0.109053	0.42260	T	-0.529936	0.00384	T	-0.531936	0.19094	T	0.024536552011552	0.01212	T	0.713829	0.32570	T	0.099413894	0.23461	0.10362604	0.24867	0.099413894	0.23461	0.10362604	0.24867	-5.786	0.44452	T	.	.	0.188	0.40473	B	.	.	1.025401	0.14049	10.62	0.89243605733300169	0.18631	0.66341	0.33045	D	AEFGBI	0.270100	0.38624	N	-0.688538519081708	0.16347	0.8320507	-0.713209620717987	0.16632	0.8807704	0.982807541387755	0.30458	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	5.21	3.23	0.36150	0.202000	0.17094	2.432000	0.32735	0.590000	0.31872	0.002000	0.15269	0.999000	0.35428	0.015000	0.10482	0.1589:0.0:0.6881:0.153	5.973	0.18600	162	0.93704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	594.98	40	chr15	75689424	.	G	T	594.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.046e+00;DP=716;ExcessHet=0.0000;FS=1.330;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.00;ReadPosRankSum=0.382;SOR=0.963	GT:AD:DP:GQ:PL	0/1:12,23:35:99:609,0,324	20	0	1	0
chr15	77037132	77037132	G	C	exonic	PSTPIP1	.	nonsynonymous SNV	PSTPIP1:NM_001321135:exon14:c.G1150C:p.G384R	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, Autosomal dominant	.	0	1501	20	1	0	22	0.00727513	.	.	433870	not_provided|Autoinflammatory_syndrome|Pyogenic_arthritis-pyoderma_gangrenosum-acne_syndrome	MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0011462,MedGen:C1858361,OMIM:604416,Orphanet:69126	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.87	M	-0.16	T	0.521	D	0.677	D	0.788	4.375	23.1	5.16	2.397	8.621	17.210	0.715	0.379205151611	8e-05	0.000199681	0.0003	0	0	0	0	7.981e-05	0	0.0018	0.0002199	34	154602	rs369113632	0.0002	0.0002	0.0001	0.0002	0.0038	0.0002	0.0002	0.0026	0.0022	0	2.239e-05	0	2.519e-05	0	0.0038	7.197e-05	0.0003	0.0018	7.225e-05	7.218e-05	5.142e-05	9.402e-05	0.0014	3.97e-05	3.126e-05	0.0007	0.0005	0	0	6.539e-05	0	0.0002	0	0.0034	1.471e-05	0	0.0014	0.002	0.72154	D	0.006	0.72224	D	0.999	0.77913	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.06	0.86941	M	-0.16	0.65378	T	-3.98	0.74193	D	0.905	0.92667	0.521	0.90839	D	0.677	0.88837	D	10	0.438865	0.57971	T	0.379205	0.92931	D	0.715	0.89877	0.946	0.99325	0.92207517935	0.92128	0.803177007946961	0.80271	0.693671442879	0.60719	0.666114509106	0.62284	T	0.243553	0.61251	T	-0.0918208	0.37774	T	0.088545	0.76148	D	0.260756384061415	0.23348	T	0.950605	0.82752	D	0.5855443	0.71910	0.53273374	0.73000	0.6310291	0.74354	0.5507435	0.74024	-10.06	0.75170	D	0.5577426508343604	0.62574	0.232	0.50472	B	.;.;.	.;.;.	4.906991	0.80697	27.4	0.99921221613265843	0.98787	0.95409	0.64607	D	AEFDBCI	0.888545	0.82176	D	0.849350165810424	0.89071	9.823342	0.7756234460527	0.88054	9.43995	0.999999999991267	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.679469	0.61720	0	0.491896	0.07777	0	.	.	5.16	5.16	0.70563	9.209000	0.94206	11.834000	0.97615	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.511000	0.29267	0.0:0.0:1.0:0.0	17.210	0.86811	295	0.88218	SH3 domain|SH3 domain|SH3 domain|PSTPIP1, SH3 domain;SH3 domain|SH3 domain|SH3 domain|PSTPIP1, SH3 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	2132.98	35	chr15	77037132	.	G	C	2132.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.684e+00;DP=892;ExcessHet=0.0000;FS=2.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-1.087e+00;SOR=0.938	GT:AD:DP:GQ:PL	0/1:96,93:189:99:2147,0,2442	20	0	1	0
chr15	83008519	83008519	-	A	exonic	C15orf40	.	frameshift insertion	C15orf40:NM_001160113:exon3:c.394dupT:p.L132Ffs*69,	.	.	452	773	160	3	134	300	0.0969626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	4025.8	36	chr15	83008518	.	CA	C,CAA	4025.8	.	AC=5,8;AF=0.119,0.190;AN=42;BaseQRankSum=-3.980e-01;DP=1512;ExcessHet=11.8493;FS=0.573;InbreedingCoeff=-0.4535;MLEAC=5,8;MLEAF=0.119,0.190;MQ=59.99;MQRankSum=0.00;QD=4.26;ReadPosRankSum=0.964;SOR=0.734	GT:AD:DP:GQ:PL	0/2:40,0,28:77:99:540,660,1958,0,1016,817	8	0	5	0
chr15	84512371	84512391	AGCCTCTCCTCCTGTTCACAC	-	exonic	GOLGA6L4	.	unknown	UNKNOWN,	.	.	695	820	6	1	0	8	0.00485437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0003	9.353e-05	0.0002	0.0029	0.0001	0.0001	0.0016	0.0012	3.418e-05	0	0.0007	0.0001	0	0.0029	5.403e-05	0.0002	0.0011	3.523e-05	7.954e-05	1.377e-05	5.774e-05	0.0009	1.33e-05	8.48e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.567e-05	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	538.11	154	chr15	84512370	.	TAGCCTCTCCTCCTGTTCACAC	T	538.11	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=2189;ExcessHet=0.0000;FS=1.048;InbreedingCoeff=-0.0325;MLEAC=1;MLEAF=0.024;MQ=41.91;MQRankSum=-2.954e+00;QD=7.17;ReadPosRankSum=-3.948e+00;SOR=0.895	GT:AD:DP:GQ:PL	0/1:58,17:75:99:552,0,2192	20	0	1	0
chr15	85580602	85580602	T	G	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_006738:exon7:c.T2534G:p.V845G	.	.	432	110	446	510	24	1490	0.869514	.	.	2814437	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.0	B	0.002	B	.	.	1.000	P	0.345	N	2.55	T	-0.957	T	0.017	T	0.404	1.720	11.71	0.070	-0.113	-1.248	6.569	0.179	0.00506693407359	.	0.000599042	0.0032	0.0007	0.0032	0	0.0002	0.0039	0.0088	0.0048	0.0001153	3	26028	rs4075256	0.0025	0.0025	0.0024	0.0027	0.0151	0.0025	0.0024	0.0125	0.0116	0.0004	0.0025	0.0292	2.519e-05	0.0001	0.0151	0.0018	0.0045	0.0047	0.0023	0.0023	0.0022	0.0024	0.0048	0.0021	0.0020	0.0033	0.0028	0.0003	0	0.0016	0.0297	0	9.45e-05	0.0171	0.0025	0.0038	0.0048	0.423	0.10659	T	0.027	0.63918	D	0.0	0.02946	B	0.001	0.06944	B	.	.	.	.	1	0.08975	P	1.245	0.31408	L	2.55	0.13795	T	-1.02	0.26843	N	0.078	0.06720	-0.9574	0.39662	T	0.017	0.06998	T	8	0.0039428473	0.00076	T	0.005067	0.12846	T	0.179	0.44899	.	.	0.422182357427	0.41838	0.1432355315383818	0.14246	0.0440664064185	0.04745	0.228416800499	0.01853	T	0.010925	0.27888	T	-0.552168	0.00283	T	-0.564974	0.15912	T	0.00203509816072437	0.00021	T	0.324768	0.06643	T	0.1311308	0.30576	0.06462619	0.12981	0.1311308	0.30576	0.06462619	0.12981	-3.647	0.18539	T	.	.	0.065	0.06069	B	.;.;.	.;.;.	0.426331	0.07970	4.681	0.95987591324156307	0.28377	0.04720	0.10414	N	AEFDBHCI	.	.	.	-1.3770577569871	0.02854	0.1266311	-1.35682337870166	0.03726	0.1743996	0.999998904741782	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.678554	0.66404	0	.	.	5.68	0.070	0.13688	-1.139000	0.03324	-0.569000	0.08436	-0.832000	0.02862	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4775:0.1299:0.3926	6.569	0.21723	714	0.56256	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.7619	59865.85	115	chr15	85580602	.	T	C,G	59865.85	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=1.83;DP=2553;ExcessHet=4.7172;FS=0.631;InbreedingCoeff=-0.2727;MLEAC=32,1;MLEAF=0.762,0.024;MQ=60.00;MQRankSum=0.00;QD=23.83;ReadPosRankSum=0.419;SOR=0.578	GT:AD:DP:GQ:PL	1/1:0,129,0:129:99:4192,387,0,4192,387,4192	0	11	9	0
chr15	88845663	88845663	A	G	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon7:c.A1210G:p.I404V	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	0	1493	28	1	0	30	0.00994695	.	.	1196137	not_specified|Spondyloepiphyseal_dysplasia,_Kimberley_type|Spondyloepimetaphyseal_dysplasia,_aggrecan_type|Short_stature_and_advanced_bone_age,_with_or_without_early-onset_osteoarthritis_and/or_osteochondritis_dissecans|not_provided	MedGen:CN169374|MONDO:MONDO:0012019,MedGen:C1842149,OMIM:608361,Orphanet:93283|MONDO:MONDO:0013014,MedGen:C2748544,OMIM:612813,Orphanet:171866|MONDO:MONDO:0100462,MedGen:C3665488,OMIM:165800,Orphanet:251262|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.34	T	0.0	B	0.001	B	0.285	N	1.000	N	0.755	N	4.71	T	-0.911	T	0.004	T	0.076	-0.005	3.989	-3.01	-0.392	-0.295	2.168	0.024	.	7.7e-05	0.0267572	0.0152	0.0001	0.0009	0.0124	0	0.0002	0.0178	0.1022	0.0133569	2065	154602	rs148070768	0.0065	0.0065	0.0039	0.0091	0.0968	0.0063	0.0063	0.0950	0.0943	0.0001	0.0004	0	0.0067	0	0.0035	0.0002	0.0097	0.0968	0.0042	0.0042	0.0027	0.0058	0.1082	0.0039	0.0038	0.1006	0.0975	0.0005	0	0.0005	0	0.0149	0	0	0.0001	0.0014	0.1082	0.243	0.17761	T	1.0	0.06643	T	0.0	0.02946	B	0.0	0.01387	B	0.284555	0.03855	N	1.691170	1	0.08975	N	0.83	0.20963	L	4.71	0.06291	T	-0.3	0.11913	N	0.037	0.02964	-0.9114	0.46682	T	0.004	0.01261	T	10	0.0017319918	0.00022	T	.	.	.	0.024	0.04979	.	.	.	.	0.35669920752929657	0.35583	0.163701473384	0.18462	0.282205790281	0.07802	T	0.095098	0.39551	T	-0.716182	0.00029	T	-0.787243	0.02241	T	0.000911843834536322	0.00009	T	0.567243	0.20674	T	0.041423783	0.06096	0.047140528	0.06726	0.044479884	0.07116	0.047140528	0.06726	-2.227	0.04173	T	0.12550148330874186	0.12498	0.129	0.27493	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.842136	0.01027	0.043	0.47514820808408115	0.03891	0.01218	0.04323	N	AEFDBI	0.026517	0.02006	N	-1.12570016169177	0.06189	0.2842374	-1.17513049505909	0.06327	0.3042367	0.0870381725852015	0.16024	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.19	-3.01	0.05132	-0.086000	0.11198	-1.744000	0.04806	-0.053000	0.16966	0.319000	0.25494	0.000000	0.08366	0.078000	0.17132	0.2754:0.1592:0.4103:0.1551	2.168	0.03608	969	0.06854	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	6414.68	33	chr15	88845663	.	A	G	6414.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.100e-01;DP=1254;ExcessHet=0.3300;FS=1.105;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.36;ReadPosRankSum=-9.120e-01;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,100:235:99:0|1:88845663_A_G:2069,0,5137:88845663	18	0	3	0
chr15	88849458	88849458	C	A	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon10:c.C1753A:p.R585S	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	1	1493	27	1	0	29	0.00961857	.	.	1196140	Spondyloepimetaphyseal_dysplasia,_aggrecan_type|Spondyloepiphyseal_dysplasia,_Kimberley_type|Short_stature_and_advanced_bone_age,_with_or_without_early-onset_osteoarthritis_and/or_osteochondritis_dissecans|not_provided	MONDO:MONDO:0013014,MedGen:C2748544,OMIM:612813,Orphanet:171866|MONDO:MONDO:0012019,MedGen:C1842149,OMIM:608361,Orphanet:93283|MONDO:MONDO:0100462,MedGen:C3665488,OMIM:165800,Orphanet:251262|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.77	T	0.058	B	0.06	B	0.157	N	1.000	N	-0.44	N	3.21	T	-0.962	T	0.008	T	0.212	1.546	11.12	4.19	1.269	1.504	14.545	0.084	.	.	0.0269569	0.0191	0.0002	0.0010	0.0147	0.0002	0.0002	0.0227	0.1549	0.013027	2014	154602	rs144501729	0.0064	0.0065	0.0038	0.0091	0.0975	0.0063	0.0063	0.0957	0.0950	0.0002	0.0004	0	0.0066	5.731e-05	0.0034	0.0002	0.0092	0.0975	0.0041	0.0041	0.0026	0.0057	0.1071	0.0038	0.0037	0.0995	0.0965	0.0005	0	0.0005	0	0.0135	9.409e-05	0	0.0001	0.0014	0.1071	0.2	0.23450	T	0.993	0.09457	T	0.003	0.11197	B	0.01	0.14941	B	0.157313	0.17773	N	0.320773	1	0.08975	N	-0.245	0.03879	N	3.21	0.07125	T	-2.86	0.62630	D	0.219	0.31027	-0.9616	0.38877	T	0.008	0.02760	T	10	0.0015206337	0.00017	T	.	.	.	0.084	0.24469	.	.	.	.	0.3371614835293057	0.33629	0.222995365461	0.24826	0.350890189409	0.18053	T	0.082465	0.36833	T	-0.658143	0.00064	T	-0.640676	0.09620	T	0.0262152418393855	0.01435	T	0.215178	0.05801	T	0.29870522	0.52788	0.28842452	0.54859	0.3480815	0.56917	0.28842452	0.54858	-4.164	0.26228	T	0.1278163035417712	0.13149	0.388	0.60789	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.550133	0.33007	19.21	0.97284759840530921	0.33200	0.19452	0.20666	N	AEFDBI	0.306490	0.41362	N	-0.846953672655053	0.12124	0.5891365	-0.724503995040523	0.16352	0.8645878	0.832684827162608	0.24721	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.11	4.19	0.48645	0.915000	0.28260	2.769000	0.34658	0.599000	0.40250	0.003000	0.16062	0.994000	0.32194	0.873000	0.41610	0.1471:0.8529:0.0:0.0	14.545	0.67609	966	0.07191	Link domain|Link domain|Link domain;Link domain|Link domain|Link domain;Link domain|Link domain|Link domain;Link domain|Link domain|Link domain;.;.;Link domain|Link domain|Link domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3690.68	33	chr15	88849458	.	C	A	3690.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.20;DP=915;ExcessHet=0.3300;FS=3.351;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=0.667;SOR=0.902	GT:AD:DP:GQ:PL	0/1:50,45:95:99:1213,0,1305	18	0	3	0
chr15	88849587	88849587	G	A	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon10:c.G1882A:p.A628T	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	0	1494	27	1	0	29	0.0096122	.	.	1196141	Spondyloepimetaphyseal_dysplasia,_aggrecan_type|Spondyloepiphyseal_dysplasia,_Kimberley_type|not_provided|Short_stature_and_advanced_bone_age,_with_or_without_early-onset_osteoarthritis_and/or_osteochondritis_dissecans	MONDO:MONDO:0013014,MedGen:C2748544,OMIM:612813,Orphanet:171866|MONDO:MONDO:0012019,MedGen:C1842149,OMIM:608361,Orphanet:93283|MedGen:C3661900|MONDO:MONDO:0100462,MedGen:C3665488,OMIM:165800,Orphanet:251262	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	0.885	P	0.666	P	0.105	N	0.773	D	2.275	M	2.85	T	-0.966	T	0.057	T	0.38	3.399	17.48	1.99	0.181	0.231	13.965	0.147	.	8.2e-05	0.0267572	0.0197	0.0002	0.0009	0.0136	0	0.0002	0.0252	0.1124	0.0132081	2042	154602	rs200412974	0.0065	0.0065	0.0039	0.0091	0.0979	0.0064	0.0063	0.0962	0.0955	0.0001	0.0004	0	0.0065	0	0.0035	0.0002	0.0094	0.0979	0.0041	0.0041	0.0026	0.0057	0.1074	0.0038	0.0037	0.0997	0.0967	0.0005	0	0.0005	0	0.0133	0	0	0.0001	0.0014	0.1074	0.001	0.78490	D	0.219	0.37037	T	0.839	0.46454	P	0.54	0.48825	P	0.104549	0.19698	N	0.269330	0.772677	0.34170	D	.	.	.	2.85	0.10578	T	-2.73	0.58085	D	0.245	0.40063	-0.9659	0.38033	T	0.057	0.24092	T	10	0.0042779446	0.00086	T	.	.	.	0.147	0.38986	.	.	.	.	0.46768654305253654	0.46687	0.191107692456	0.21433	0.284922510386	0.08188	T	0.095092	0.39551	T	-0.482483	0.00715	T	-0.45155	0.27525	T	0.0876491242202929	0.10937	T	0.89531	0.63576	D	0.3168548	0.54373	0.39760146	0.64370	0.23576613	0.46417	0.39760146	0.64370	-7.55	0.57961	D	0.12764837360086825	0.13104	0.160	0.35267	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.544704	0.32927	19.19	0.99676016819602753	0.78912	0.58370	0.30624	D	AEFDBCI	0.195391	0.32243	N	0.158728002653882	0.49225	3.125372	0.0978900643823193	0.44442	2.725943	0.0515967608160388	0.14878	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.11	1.99	0.25423	0.276000	0.18478	1.680000	0.28007	0.676000	0.76740	0.982000	0.35529	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.4181:0.5819	13.965	0.63714	966	0.07191	Link domain|Link domain|Link domain|Link domain;Link domain|Link domain|Link domain|Link domain;Link domain|Link domain|Link domain|Link domain;Link domain|Link domain|Link domain|Link domain;.;.;Link domain|Link domain|Link domain|Link domain	.	.	.	.	.	Likely benign	0	0	0	0	0	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	6976.68	36	chr15	88849587	.	G	A	6976.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.43;DP=1486;ExcessHet=0.3300;FS=1.126;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=-1.421e+00;SOR=0.619	GT:AD:DP:GQ:PL	0/1:103,86:189:99:2230,0,2756	18	0	3	0
chr15	88857732	88857732	G	T	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.G5147T:p.S1716I	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	0	1492	29	1	0	31	0.0102819	.	.	1196144	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.002	N	1.000	D	2.65	M	3.62	T	-1.064	T	0.022	T	0.506	3.578	18.23	4.92	1.423	5.118	15.501	0.164	.	8.2e-05	0.0295527	0.0163	0.0003	0.0009	0.0205	0	0.0002	0.0189	0.1060	0.0144241	2230	154602	rs79925540	0.0070	0.0070	0.0044	0.0098	0.1001	0.0069	0.0069	0.0983	0.0976	0.0004	0.0004	0	0.0184	0	0.0038	0.0002	0.0111	0.1001	0.0047	0.0047	0.0031	0.0064	0.1106	0.0044	0.0043	0.1028	0.0997	0.0006	0	0.0005	0	0.0268	0	0	0.0001	0.0014	0.1106	0.0	0.91255	D	0.415	0.24694	T	.	.	.	.	.	.	0.001881	0.37789	N	0.000000	0.874614	0.35629	D	.	.	.	3.55	0.04746	T	-3.94	0.73684	D	0.15	0.45331	-1.0639	0.10807	T	0.022	0.09238	T	10	0.00233683	0.00034	T	.	.	.	0.164	0.42212	.	.	.	.	0.7197601509944354	0.71919	0.836619254689	0.67844	0.507168650627	0.39826	T	.	.	.	-0.404933	0.02149	T	-0.331438	0.41309	T	0.0535739177832831	0.06117	T	0.824218	0.49484	T	0.6429832	0.74990	0.585032	0.75937	0.6574989	0.75766	0.585032	0.75938	-8.981	0.67575	D	0.12465354892255805	0.12266	0.315	0.54123	B	.;.;.;.;.;.	.;.;.;.;.;.	3.917389	0.57168	23.8	0.99638083251245502	0.76449	0.98419	0.82582	D	AEFBI	0.654281	0.62702	D	0.730866682522821	0.81658	7.573601	0.68133681451556	0.80966	7.417242	0.970230948880462	0.29192	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.86	4.92	0.64147	4.255000	0.58595	8.457000	0.77235	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1389:0.8611:0.0	15.501	0.75431	969	0.06854	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	5401.68	100	chr15	88857732	.	G	T	5401.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.42;DP=2570;ExcessHet=0.3300;FS=9.376;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=-1.659e+00;SOR=1.216	GT:AD:DP:GQ:PL	0/1:64,54:118:99:1421,0,1792	18	0	3	0
chr15	88858385	88858385	G	C	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.G5800C:p.V1934L	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	0	1492	29	1	0	31	0.0102819	.	.	1196146	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.21	T	0.884	P	0.596	P	0.147	N	0.810	N	2.61	M	4.2	T	-1.101	T	0.008	T	0.152	0.930	8.789	-3.18	-0.447	0.041	12.503	0.121	.	.	0.0303514	0.0164	0.0003	0.0009	0.0216	0	0.0002	0.0189	0.1061	0.0145276	2246	154602	rs76282091	0.0071	0.0071	0.0044	0.0098	0.1002	0.0069	0.0069	0.0984	0.0977	0.0004	0.0004	0	0.0188	0	0.0038	0.0002	0.0111	0.1002	0.0047	0.0047	0.0031	0.0064	0.1095	0.0044	0.0043	0.1018	0.0987	0.0006	0	0.0005	0	0.0284	0	0	0.0001	0.0014	0.1095	0.016	0.59928	D	0.057	0.46406	T	.	.	.	.	.	.	0.147168	0.18089	N	0.300241	1	0.08975	N	.	.	.	4.2	0.03354	T	-1.96	0.45404	N	0.117	0.17553	-1.1006	0.04020	T	0.008	0.02926	T	10	0.0016039312	0.00019	T	.	.	.	0.121	0.33580	.	.	.	.	0.29420148835687954	0.29333	0.485768874065	0.47451	0.327430605888	0.14546	T	.	.	.	-0.580975	0.00190	T	-0.584309	0.14162	T	0.0615173059497363	0.07405	T	0.853715	0.55479	D	0.13021646	0.30391	0.13735288	0.32833	0.13426939	0.31202	0.13735288	0.32832	-6.254	0.51410	T	0.12705327745958234	0.12940	0.369	0.59522	A	.;.;.;.;.;.	.;.;.;.;.;.	0.844045	0.12159	8.707	0.88342601587151715	0.17902	0.12361	0.17221	N	AEFBI	0.092211	0.18671	N	-0.470338000125133	0.23056	1.235475	-0.666502628490601	0.17801	0.9481311	0.0137201645894468	0.12501	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.56	-3.18	0.04867	0.054000	0.14087	-0.161000	0.11322	-0.113000	0.14837	0.007000	0.17678	0.000000	0.08366	0.702000	0.34203	0.4936:0.0:0.5064:0.0	12.503	0.55307	969	0.06854	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	5327.68	97	chr15	88858385	.	G	C	5327.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.255;DP=1899;ExcessHet=0.3300;FS=0.775;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=14.17;ReadPosRankSum=-2.300e-02;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,56:123:99:.:.:1662,0,1928	18	0	3	0
chr15	89750804	89750804	C	G	exonic	MESP1	.	nonsynonymous SNV	MESP1:NM_018670:exon1:c.G428C:p.S143T,	.	.	2	1512	8	0	0	8	0.00263852	.	.	2215159	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.982	D	0.715	P	0.002	U	0.989	D	2.085	M	-2.34	D	0.148	D	0.619	D	0.066	2.769	15.22	3.04	1.711	1.599	7.409	0.361	0.917779478836	.	.	0.0001	0	0.0002	0	0	0.0001	0	0.0002	3.88e-05	6	154602	rs774948264	3.129e-05	3.147e-05	2.164e-05	4.112e-05	0.0009	2.358e-05	2.095e-05	0.0004	0.0002	6.995e-05	2.819e-05	0	0	0	0.0009	1.395e-05	0.0001	0.0002	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.048	0.40068	D	0.135	0.34124	T	0.982	0.60036	D	0.715	0.54683	P	0.001964	0.37549	U	0.000000	0.989031	0.40874	D	2.25	0.63811	M	-2.34	0.87989	D	-2.16	0.48850	N	0.208	0.23125	0.148	0.85018	D	0.619	0.86564	D	10	0.34192705	0.51234	T	0.917779	0.99392	D	0.361	0.68141	0.299	0.26522	0.643574497599	0.64062	0.3003245447234037	0.29945	1.21140750543	0.80846	0.873099029064	0.93008	D	0.266031	0.63794	T	-0.293922	0.09245	T	-0.375261	0.36275	T	0.484813511371613	0.32074	T	0.754325	0.37688	T	0.18588448	0.39971	0.3103691	0.57048	0.18588448	0.39970	0.3103691	0.57047	-7.115	0.54868	T	.	.	0.177	0.38658	B	.	.	3.702285	0.52811	23.3	0.98726296014014636	0.45274	0.94709	0.62060	D	ALL	0.454446	0.50715	N	0.157678953827229	0.49176	3.120946	0.0473142027856109	0.41941	2.528388	0.999999999999997	0.74766	0.437478	0.07067	0	0.218748	0.04544	0	0.606814	0.37721	0	0.618803	0.45993	0	.	.	3.04	3.04	0.34171	-0.259000	0.08742	4.075000	0.41695	0.452000	0.21348	0.000000	0.06391	1.000000	0.68203	0.550000	0.30174	0.0:0.8726:0.0:0.1274	7.409	0.26180	610	0.67008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1573.98	35	chr15	89750804	.	C	G	1573.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.208e+00;DP=1004;ExcessHet=0.0000;FS=3.385;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=1.98;SOR=1.052	GT:AD:DP:GQ:PL	0/1:56,65:121:99:1588,0,1379	20	0	1	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	.	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	31349.59	49	chr15	89776903	.	AGGGCAGGGGCAG	*,A	31349.59	.	AC=14,28;AF=0.333,0.667;AN=42;BaseQRankSum=0.794;DP=1383;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=14,28;MLEAF=0.333,0.667;MQ=60.00;MQRankSum=0.00;QD=27.92;ReadPosRankSum=0.595;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,25,37:62:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:2601,1462,1405,1048,0,1025:89776889	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	1/1:0,89,0,0:92:99:3946,270,0,3951,295,4064,3951,295,4064,4064	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	1/1:0,89,0,0:92:99:3946,270,0,3951,295,4064,3951,295,4064,4064	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	1/1:0,89,0,0:92:99:3946,270,0,3951,295,4064,3951,295,4064,4064	8	2	8	0
chr15	100456011	100456011	T	C	exonic	CERS3	.	nonsynonymous SNV	CERS3:NM_001378789:exon11:c.A881G:p.H294R	Ichthyosis, congenital, autosomal recessive 9, Autosomal recessive	.	439	1045	36	2	0	40	0.0187793	.	.	1168314	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.33	T	0.004	B	0.003	B	0.049	N	1.000	N	-0.695	N	-1.87	D	-1.006	T	0.045	T	0.2	0.547	6.959	5.66	2.157	1.967	12.284	0.237	.	0.0024	0.0185703	0.0103	0.0053	0.0556	0.0111	0	0.0012	0.0044	0.0221	0.0103362	1598	154602	rs114065539	0.0045	0.0045	0.0042	0.0048	0.0610	0.0044	0.0044	0.0591	0.0583	0.0038	0.0610	0.0020	0.0104	0	0.0096	0.0008	0.0071	0.0226	0.0082	0.0082	0.0073	0.0091	0.0491	0.0078	0.0076	0.0462	0.0450	0.0049	0	0.0491	0.0017	0.0118	0	0.0034	0.0012	0.0137	0.0236	0.322	0.13479	T	0.304	0.20100	T	0.004	0.12183	B	0.003	0.08700	B	0.049068	0.23194	N	0.463226	1	0.08975	N	-0.205	0.04094	N	-1.87	0.84415	D	-1.04	0.27259	N	0.13	0.12484	-1.0063	0.28065	T	0.045	0.19518	T	10	0.004370272	0.00089	T	.	.	.	0.237	0.54074	.	.	.	.	0.24044158694867285	0.23958	0.155856096555	0.17590	0.428422182798	0.28993	T	0.178777	0.52954	T	-0.444213	0.01222	T	-0.362179	0.37800	T	0.014153291741859	0.00277	T	0.158484	0.01410	T	0.10032456	0.23688	0.09860937	0.23514	0.10527182	0.24889	0.09860937	0.23514	-2.74	0.07645	T	0.10677460984451233	0.08618	0.076	0.05756	B	.;.;.	.;.;.	2.400406	0.30838	18.56	0.87877597731952883	0.17549	0.31874	0.24446	N	AEFGBI	0.077620	0.15643	N	-0.56008305979443	0.20168	1.061251	-0.36937976478449	0.25915	1.428153	0.0952573484991105	0.16223	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.66	5.66	0.87293	2.151000	0.41888	6.209000	0.54989	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.694000	0.33958	0.0:0.0:0.0:1.0	12.284	0.54102	970	0.06235	TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1429	5162.03	108	chr15	100456011	.	T	C	5162.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.319e+00;DP=1107;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=10.51;ReadPosRankSum=0.236;SOR=0.699	GT:AD:DP:GQ:PL	0/1:53,38:91:99:815,0,1228	15	0	6	0
chr15	101714943	101714943	G	A	exonic	TARS3	.	nonsynonymous SNV	TARS3:NM_152334:exon4:c.C587T:p.T196M,	.	.	438	1064	20	0	0	20	0.00931099	.	.	2814541	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.22	T	0.993	D	0.87	P	0.030	N	1.000	N	2.485	M	3.3	T	-1.078	T	0.045	T	0.297	3.249	16.89	4.04	0.838	4.395	7.740	0.166	.	0.0008	0.00299521	0.0025	0.0002	0.0004	0.0001	0.0015	0.0022	0.0022	0.0083	0.0021733	336	154602	rs148053074	0.0013	0.0014	0.0011	0.0016	0.0084	0.0013	0.0013	0.0079	0.0077	9.007e-05	0.0004	0.0016	7.582e-05	0.0017	0.0042	0.0009	0.0012	0.0084	0.0012	0.0012	0.0011	0.0012	0.0096	0.0010	0.0010	0.0074	0.0066	0.0001	0	0.0005	0.0017	0	0.0010	0.0068	0.0015	0.0014	0.0096	0.048	0.40068	D	0.061	0.47828	T	0.993	0.65571	D	0.87	0.61806	P	0.030279	0.25333	N	0.447102	1	0.08975	N	2.865	0.83145	M	3.3	0.06368	T	-2.61	0.56144	D	0.406	0.44666	-1.0778	0.07781	T	0.045	0.19275	T	10	0.012551904	0.00269	T	.	.	.	0.166	0.42578	.	.	0.654922819804	0.65204	0.5467780833325507	0.54603	0.0724840226661	0.08123	0.326777070761	0.14447	T	0.217899	0.58046	T	-0.492028	0.00633	T	-0.474835	0.24996	T	0.0373221893362915	0.03212	T	0.89841	0.64469	D	0.04345764	0.06775	0.09358877	0.22112	0.04345764	0.06775	0.09358877	0.22111	-8.601	0.65096	D	.	.	0.089	0.15520	B	.;.	.;.	4.152054	0.62284	24.4	0.99813512828511386	0.89708	0.79288	0.39261	D	AEFBI	0.261060	0.37908	N	0.369595672332471	0.59780	4.160503	0.270398489671687	0.53818	3.549044	0.637549102613351	0.22023	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.9	4.04	0.46262	3.995000	0.56715	5.681000	0.49295	0.654000	0.53741	0.881000	0.31008	0.991000	0.31484	0.991000	0.66497	0.2489:0.0:0.7511:0.0	7.740	0.28000	702	0.57624	TGS;TGS	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1432.98	33	chr15	101714943	.	G	A	1432.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.870e-01;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=0.872;SOR=0.715	GT:AD:DP:GQ:PL	0/1:51,59:110:99:1447,0,1171	20	0	1	0
chr16	62869	62869	C	T	exonic	RHBDF1	.	nonsynonymous SNV	RHBDF1:NM_022450:exon6:c.G701A:p.R234H,	.	.	424	1096	2	0	0	2	0.000911577	.	.	706467	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.18	T	0.518	P	0.056	B	0.000	D	1.000	D	0.49	N	-0.19	T	-0.912	T	0.126	T	0.463	1.694	11.63	4.65	2.406	3.278	16.710	0.119	.	.	0.000199681	0.0013	9.681e-05	0.0136	0	0	0	0.0011	0	0.0010349	160	154602	rs184104773	0.0003	0.0003	0.0003	0.0003	0.0089	0.0003	0.0003	0.0082	0.0079	0.0001	0.0089	0	0	0	0.0002	3.597e-06	0.0001	9.275e-05	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	9.23e-05	0.0009	0.0008	4.81e-05	0	0.0014	0	0	0	0	0	0	0.0002	0.153	0.24372	T	0.166	0.30828	T	0.072	0.23997	B	0.056	0.26147	B	0.000303	0.45977	D	0.182236	0.999935	0.51612	D	1.2	0.30300	L	-0.19	0.65931	T	-0.91	0.24460	N	0.552	0.57775	-0.9121	0.46594	T	0.126	0.43091	T	10	0.008246601	0.00187	T	.	.	.	0.119	0.33137	.	.	0.738794379584	0.73645	0.2744729942164685	0.27360	0.185548957451	0.20862	0.44410648942	0.31138	T	0.016773	0.13800	T	-0.355539	0.04389	T	-0.275522	0.47261	T	0.0230304805617499	0.01027	T	0.929907	0.74113	D	0.061115008	0.12618	0.058359463	0.10769	0.061115008	0.12617	0.058359463	0.10769	-6.002	0.46296	T	.	.	0.081	0.08176	B	.	.	4.031523	0.59621	24.1	0.96875540639601243	0.31438	0.97318	0.73996	D	AEFBI	0.609007	0.59837	D	-0.272002522540461	0.30233	1.68389	-0.159634140509506	0.33040	1.88579	0.999999869154397	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.65	4.65	0.57626	2.787000	0.47487	4.796000	0.44934	0.596000	0.33519	0.998000	0.41325	1.000000	0.68203	0.713000	0.34548	0.0:1.0:0.0:0.0	16.710	0.85240	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1891.98	35	chr16	62869	.	C	T	1891.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=920;ExcessHet=0.0000;FS=0.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=-2.730e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/1:76,73:149:99:1906,0,1827	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|2:0,14,15:29:99:1|0:1397263_TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCAC_T:2543,671,514,683,0,495:1397263	1	6	3	5
chr16	1817189	1817189	C	T	exonic	HAGH	.	stopgain	HAGH:NM_001286249:exon5:c.G515A:p.W172X,	.	.	9	1488	24	1	0	26	0.00866089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	1.219	9.947	0.68	-0.090	0.380	2.252	.	.	0.0023	0.00299521	0.0037	0.0009	0.0010	0	0.0003	0.0040	0.0022	0.0101	0.0035511	549	154602	rs61729103	0.0038	0.0039	0.0036	0.0041	0.0099	0.0038	0.0037	0.0094	0.0092	0.0004	0.0014	0.0007	2.52e-05	0.0009	0.0054	0.0040	0.0028	0.0099	0.0028	0.0029	0.0029	0.0028	0.0099	0.0026	0.0025	0.0077	0.0069	0.0007	0.0208	0.0024	0.0012	0.0002	0.0010	0.0034	0.0041	0.0033	0.0099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.798	0.79406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.517765	0.00453	T	-0.508548	0.21466	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	0.923064	0.12983	9.486	0.97700951927249491	0.35436	0.91634	0.53938	D	AEFDBI	0.114516	0.22552	N	-0.150670226938905	0.35206	2.019274	-0.199465689945463	0.31556	1.786998	6.62357201934162E-5	0.04366	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.15	0.68	0.17146	0.428000	0.21114	0.725000	0.21043	0.598000	0.34611	0.995000	0.38783	0.999000	0.35428	0.347000	0.25591	0.2694:0.4559:0.1311:0.1436	2.252	0.03798	608	0.67185	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1300.98	35	chr16	1817189	.	C	T	1300.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=855;ExcessHet=0.0000;FS=1.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=2.09;SOR=0.534	GT:AD:DP:GQ:PL	0/1:45,49:94:99:1315,0,1063	20	0	1	0
chr16	2764574	2764574	C	A	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon11:c.C4046A:p.S1349Y,	.	.	431	1089	2	0	0	2	0.000917431	.	.	2810954	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.047	B	0.02	B	0.027	N	1.000	N	0	N	1.84	T	-1.039	T	0.034	T	0.207	1.047	9.278	5.16	1.597	1.850	9.662	0.030	0.0076148160762	.	.	3.309e-05	0	0	0	0	4.498e-05	0	6.057e-05	2.59e-05	4	154602	rs145200443	4.104e-05	4.104e-05	4.492e-05	3.713e-05	0.0017	3.244e-05	2.919e-05	0.0009	0.0007	2.987e-05	0	0	0	0	0.0017	3.237e-05	0.0001	4.637e-05	5.909e-05	5.906e-05	6.424e-05	5.371e-05	0.0002	3.075e-05	2.209e-05	2.846e-05	1.858e-05	2.407e-05	0	0	0	0	0	0.0034	7.349e-05	0.0005	0.0002	.	.	.	0.033	0.53072	D	0.047	0.21998	B	0.02	0.19048	B	0.027300	0.25780	N	0.379545	0.999692	0.20667	N	0	0.06538	N	1.84	0.24656	T	-0.42	0.14193	N	0.239	0.26957	-1.0392	0.17556	T	0.034	0.14464	T	10	0.08720982	0.14899	T	0.007615	0.20192	T	0.030	0.07022	0.193	0.10437	0.303781844768	0.29979	0.4407284899264745	0.43989	.	.	0.300399512053	0.10460	T	0.153872	0.49491	T	-0.312509	0.07529	T	-0.556223	0.16733	T	0.0515941979502398	0.05777	T	0.79742	0.44137	T	0.11349198	0.26804	0.16263585	0.37768	0.11349198	0.26804	0.16263585	0.37767	-7.677	0.58848	D	.	.	0.112	0.21950	B	.	.	3.317234	0.45604	22.2	0.88094169919647658	0.17712	0.96228	0.68125	D	AEFGBCI	0.328765	0.42932	N	-0.180611113693565	0.33942	1.931537	0.0455140388878422	0.41854	2.521619	0.999999275551403	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.11	5.16	0.70563	1.473000	0.34995	2.760000	0.34598	0.599000	0.40250	0.995000	0.38783	0.999000	0.35428	0.990000	0.65344	0.0:0.8431:0.0:0.1569	9.662	0.39123	784	0.47045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1508.98	87	chr16	2764574	.	C	A	1508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.125e+00;DP=1790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.26;ReadPosRankSum=0.392;SOR=0.642	GT:AD:DP:GQ:PL	0/1:74,60:134:99:1523,0,2133	20	0	1	0
chr16	2770683	2770683	C	T	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon14:c.C8215T:p.P2739S,	.	.	430	996	89	7	0	103	0.0491647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	0.721	D	0.55	N	0.33	T	-0.449	T	0.192	T	0.625	1.864	12.19	5.65	2.679	2.112	15.222	0.190	.	0.0023	0.00958466	0.0188	0.0018	0.0151	0	0	0.0053	0.025	0.0420	0.0049482	765	154602	rs138495768	0.0047	0.0047	0.0036	0.0058	0.0438	0.0046	0.0046	0.0394	0.0377	0.0007	0.0026	0.0042	2.763e-05	0.0001	0.0438	0.0025	0.0065	0.0388	0.0035	0.0035	0.0029	0.0041	0.0344	0.0032	0.0031	0.0301	0.0285	0.0006	0	0.0060	0.0026	0.0002	0	0.0306	0.0031	0.0066	0.0344	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000011	0.62929	D	0.000000	0.720634	0.33614	D	0.55	0.14455	N	0.33	0.58323	T	-1.53	0.37178	N	0.386	0.42737	-0.4492	0.70427	T	0.192	0.54389	T	10	0.007466644	0.00170	T	.	.	.	0.190	0.46781	.	.	0.595214673487	0.59199	0.12494821746765934	0.12420	.	.	0.456650614738	0.32852	T	0.215958	0.57798	T	-0.330918	0.06043	T	-0.219549	0.52781	T	0.0301538723058847	0.02013	T	0.748625	0.36937	T	0.36156985	0.57956	0.40821308	0.65145	0.36156985	0.57956	0.40821308	0.65145	-4.674	0.33088	T	.	.	0.131	0.28174	B	.	.	3.829761	0.55346	23.6	0.947188900019729	0.25389	0.82683	0.41877	D	AEFDGBHCI	0.632421	0.61304	D	0.504954797921864	0.67383	5.074224	0.538789430895942	0.70620	5.532223	0.999999999999159	0.74766	0.675202	0.55065	0	0.697927	0.68747	0	0.67197	0.60751	0	0.711	0.71501	0	.	.	5.65	5.65	0.86881	2.149000	0.41869	7.631000	0.62734	0.599000	0.40250	0.908000	0.31627	1.000000	0.68203	0.887000	0.42601	0.0:1.0:0.0:0.0	15.222	0.73011	769	0.49307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1288.98	34	chr16	2770683	.	C	T	1288.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.250e-01;DP=793;ExcessHet=0.0000;FS=1.635;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=-9.960e-01;SOR=0.902	GT:AD:DP:GQ:PL	0/1:47,50:97:99:1303,0,1262	20	0	1	0
chr16	3966931	3966931	C	T	exonic	ADCY9	.	nonsynonymous SNV	ADCY9:NM_001116:exon11:c.G2906A:p.R969H,	.	.	424	1086	11	1	0	13	0.00594966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.0	B	0.452	N	1.000	N	0	N	-1.67	D	-0.863	T	0.248	T	0.045	0.602	7.245	-7.33	-1.252	-2.438	8.139	0.158	0.0220263285353	0.0024	0.000998403	0.0030	0.0004	0.0006	0	0.0021	0.0040	0.0011	0.0041	0.0028266	437	154602	rs141519764	0.0043	0.0043	0.0044	0.0042	0.0049	0.0042	0.0041	0.0048	0.0048	0.0007	0.0005	0.0011	2.519e-05	0.0027	0.0038	0.0049	0.0025	0.0043	0.0024	0.0024	0.0025	0.0023	0.0042	0.0022	0.0021	0.0038	0.0036	0.0008	0	0.0005	0.0017	0	0.0018	0	0.0042	0.0019	0.0033	0.129	0.26852	T	0.146	0.32891	T	0.0	0.02946	B	0.0	0.01387	B	0.451710	0.04819	N	1.279070	1	0.08975	N	-1.1	0.00987	N	-1.67	0.82806	D	-0.18	0.09796	N	0.018	0.00252	-0.8630	0.51046	T	0.248	0.61704	T	10	0.005517155	0.00122	T	0.022026	0.44874	T	0.158	0.41098	.	.	0.389676119804	0.38580	0.43503127525865926	0.43420	0.521912766462	0.49941	0.176036298275	0.00063	T	0.232991	0.59969	T	-0.563579	0.00242	T	-0.577191	0.14797	T	0.000746427757740348	0.00007	T	0.132987	0.01049	T	0.01840083	0.00361	0.024957554	0.00525	0.01840083	0.00361	0.024957554	0.00525	-4.029	0.24236	T	.	.	0.072	0.04316	B	.	.	-0.486938	0.01909	0.159	0.94667691793333741	0.25290	0.01727	0.05464	N	AEFBI	0.054329	0.09869	N	-1.36423328599246	0.02980	0.1324126	-1.42667796427062	0.02988	0.1385306	0.758767126015653	0.23476	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.63	-7.33	0.01284	-2.254000	0.01265	.	.	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0978:0.5708:0.1979:0.1336	8.139	0.30232	819	0.41190	.	.	.	.	.	.	Uncertain significance	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	1615.98	34	chr16	3966931	.	C	T	1615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.89;DP=1159;ExcessHet=0.0000;FS=7.910;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-6.800e-01;SOR=1.302	GT:AD:DP:GQ:PL	0/1:75,64:139:99:1630,0,1697	20	0	1	0
chr16	10472122	10472124	TGT	-	exonic	ATF7IP2	.	nonframeshift deletion	ATF7IP2:NM_024997:exon8:c.1365_1367del:p.V456del	.	.	499	979	36	8	0	52	0.0258706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0084	0.00499201	0.0096	0.0018	0.0069	0.0001	0.0023	0.0119	0.0113	0.0152	0.0022284	58	26028	rs566280429	0.0090	0.0093	0.0088	0.0093	0.0263	0.0089	0.0088	0.0228	0.0215	0.0018	0.0068	0.0396	5.147e-05	0.0015	0.0263	0.0087	0.0099	0.0146	0.0078	0.0078	0.0081	0.0075	0.0129	0.0074	0.0073	0.0103	0.0095	0.0025	0.0022	0.0081	0.0415	0.0002	0.0018	0.0034	0.0104	0.0099	0.0129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4093.64	33	chr16	10472121	.	ATGT	A	4093.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.243e+00;DP=881;ExcessHet=0.3300;FS=4.933;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=15.57;ReadPosRankSum=-4.880e-01;SOR=0.867	GT:AD:DP:GQ:PL	0/1:35,35:70:99:1324,0,1364	18	0	3	0
chr16	11268922	11268922	T	C	exonic	TNP2	.	nonsynonymous SNV	TNP2:NM_005425:exon1:c.A341G:p.K114R,	.	.	422	1097	3	0	0	3	0.0013655	.	.	2350083	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.39	T	0.033	B	0.011	B	0.832	N	1.000	N	0.695	N	0.9	T	-1.034	T	0.054	T	0.126	-1.263	0.047	-2.85	-0.637	-0.997	2.956	0.004	0.00101244685426	0.0008	.	0.0006	0.0002	8.652e-05	0	0	0.0009	0.0011	0.0001	0.0004981	77	154602	rs201125198	0.0004	0.0004	0.0003	0.0004	0.0017	0.0003	0.0003	0.0009	0.0007	6.093e-05	0.0005	0.0059	0	1.875e-05	0.0017	0.0003	0.0007	0.0002	0.0004	0.0004	0.0004	0.0005	0.0008	0.0003	0.0003	0.0005	0.0004	4.812e-05	0.0011	0.0008	0.0052	0	9.418e-05	0	0.0004	0.0005	0.0004	0.381	0.11156	T	0.564	0.08991	T	0.033	0.20350	B	0.011	0.15521	B	0.832432	0.06949	N	1.106840	1	0.08975	N	0.695	0.17993	N	0.9	0.45248	T	-0.75	0.21003	N	0.165	0.17416	-1.0340	0.19173	T	0.054	0.22921	T	10	0.007618755	0.00173	T	0.001012	0.01096	T	0.004	0.00165	.	.	0.354183961838	0.35022	0.004358573720740442	0.00409	0.0612328423319	0.06815	0.336092561483	0.15852	T	0.084306	0.37248	T	-0.575151	0.00206	T	-0.707563	0.05422	T	0.0101940809538027	0.00138	T	0.328467	0.06836	T	0.029672502	0.02500	0.026989	0.00821	0.029672502	0.02500	0.026989	0.00820	-4.255	0.27541	T	.	.	0.083	0.09385	B	.;.	.;.	-0.156112	0.03322	0.580	0.62248890320673067	0.06914	0.00733	0.03071	N	AEBI	0.030098	0.02966	N	-1.37717583474359	0.02853	0.1265801	-1.45314025157751	0.02742	0.1266658	0.515252762600308	0.21051	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.69	-2.85	0.05392	-0.878000	0.04300	-0.601000	0.08270	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3465:0.3324:0.0:0.3211	2.956	0.05516	905	0.23532	.;.	.	.	.	.	.	Uncertain significance	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	1715.98	41	chr16	11268922	.	T	C	1715.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.210e-01;DP=944;ExcessHet=0.0000;FS=0.657;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=-1.189e+00;SOR=0.761	GT:AD:DP:GQ:PL	0/1:55,73:128:99:1730,0,1490	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	0/2:16,0,12,0,0:28:99:441,490,1147,0,658,622,490,1147,658,1147,490,1147,658,1147,1147	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	0/2:16,0,12,0,0:28:99:441,490,1147,0,658,622,490,1147,658,1147,490,1147,658,1147,1147	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	0/2:16,0,12,0,0:28:99:441,490,1147,0,658,622,490,1147,658,1147,490,1147,658,1147,1147	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|2:0,115,64:179:99:1|0:11927441_GTTCCACCTCAGCGGCCCTCCGCCTCTTGGGTTCGGGTGGTGA_G:5549,2633,2449,3203,0,4578:11927441	2	11	4	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	0/1:111,69:200:99:319,0,2077	1	0	20	0
chr16	15608289	15608289	A	C	splicing	MARF1	NM_014647:exon21:c.4182+2T>G;NM_001184999:exon21:c.4173+2T>G;NM_001184998:exon21:c.4182+2T>G	.	.	.	.	.	.	.	.	.	.	.	0.9999	0.932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.737	15.11	5.87	2.244	8.594	16.269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.013e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.62e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226396	0.76381	D	0.0874256	0.76073	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.880593	0.80035	27.2	0.99249930435919897	0.56825	0.93745	0.59070	D	AEFGBCI	.	.	.	1.1020985799721	0.98172	17.59691	0.939101774359612	0.97063	15.53408	0.999999999994994	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.128073	0.03558	0	0.117559	0.03655	0	0.970338	0.72592	5.87	5.87	0.94266	8.582000	0.90577	11.196000	0.88846	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.154000	0.20445	1.0:0.0:0.0:0.0	16.269	0.82430	668	0.61153	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	163.63	64	chr16	15608289	.	A	C	163.63	.	AC=2;AF=0.091;AN=22;BaseQRankSum=-1.574e+00;DP=1100;ExcessHet=0.1072;FS=56.234;InbreedingCoeff=-0.2008;MLEAC=3;MLEAF=0.136;MQ=60.00;MQRankSum=0.00;QD=1.50;ReadPosRankSum=3.25;SOR=6.024	GT:AD:DP:GQ:PL	0/1:45,14:59:65:65,0,1034	9	0	2	10
chr16	20384837	20384837	T	C	exonic	PDILT	.	nonsynonymous SNV	PDILT:NM_174924:exon3:c.A217G:p.K73E,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.959	D	0.718	P	0.003	N	1.000	N	1.5	L	4.0	T	-1.049	T	0.018	T	0.445	2.105	12.99	3.17	0.495	0.986	7.110	0.089	0.00316943343908	0.0002	.	0.0002	0	0	0	0	0.0002	0.0011	0.0007	0.0001488	23	154602	rs146719463	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0013	0.0011	2.987e-05	4.472e-05	0	0	0	0.0023	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	9.4e-05	0.0008	7.086e-05	5.744e-05	0.0003	0.0002	2.407e-05	0	0	0	0	0	0	0.0002	0	0.0008	0.019	0.50132	D	0.163	0.31125	T	0.959	0.55135	D	0.718	0.54779	P	0.003305	0.35125	N	0.313542	1	0.08975	N	1.61	0.41143	L	4.0	0.13434	T	-0.67	0.19297	N	0.301	0.34012	-1.0492	0.14621	T	0.018	0.07612	T	10	0.044784635	0.03475	T	0.003169	0.06936	T	0.089	0.25827	.	.	0.256283259241	0.25257	0.45274535624881207	0.45192	0.157787249233	0.17821	0.430652797222	0.29297	T	5.49E-4	0.24567	T	-0.383534	0.02959	T	-0.424533	0.30557	T	0.0700232070453048	0.08654	T	0.60154	0.22486	T	0.20148239	0.42160	0.28050655	0.54026	0.20148239	0.42160	0.28050655	0.54025	-2.669	0.07046	T	.	.	0.117	0.43855	B	.;.	.;.	2.467791	0.31802	18.85	0.9959052626606284	0.73572	0.05012	0.10790	N	AEFBI	0.050375	0.08799	N	-0.173012869334018	0.34262	1.953457	-0.320193573005895	0.27446	1.523074	0.637372319325609	0.22022	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.43	3.17	0.35510	0.996000	0.29320	1.788000	0.28774	0.665000	0.62972	0.135000	0.23427	0.989000	0.31174	0.833000	0.39279	0.0:0.1758:0.0:0.8242	7.110	0.24561	809	0.43032	Thioredoxin domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1474.98	37	chr16	20384837	.	T	C	1474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.27;DP=805;ExcessHet=0.0000;FS=6.365;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.46;ReadPosRankSum=-8.630e-01;SOR=1.311	GT:AD:DP:GQ:PL	0/1:47,55:102:99:1489,0,982	20	0	1	0
chr16	22534048	22534059	ACCCTCAGCTCC	-	exonic	NPIPB5	.	nonframeshift deletion	NPIPB5:NM_001135865:exon7:c.1065_1076del:p.P359_A362del,	.	.	501	975	46	0	0	46	0.0230461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0	0	0	0	0.0045	0	0	3.84e-05	1	26028	rs761773343	0.0030	0.0046	0.0029	0.0032	0.0158	0.0030	0.0029	0.0127	0.0115	0.0006	0.0019	0.0144	0.0002	0.0051	0.0158	0.0024	0.0037	0.0087	0.0051	0.0060	0.0051	0.0052	0.0165	0.0048	0.0046	0.0130	0.0117	0.0009	0	0.0049	0.0230	0	0.0040	0.0099	0.0068	0.0072	0.0165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	5355.64	40	chr16	22534047	.	TACCCTCAGCTCC	T	5355.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.67;DP=2203;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=35.28;MQRankSum=-2.815e+00;QD=3.99;ReadPosRankSum=0.849;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:466,69:535:99:.:.:1450,0,19063	18	0	3	0
chr16	25224417	25224417	T	C	exonic	AQP8	.	nonsynonymous SNV	AQP8:NM_001169:exon4:c.T443C:p.V148A,	.	.	423	1097	1	1	0	3	0.0013655	.	.	3286076	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.722	P	0.42	B	0.052	N	0.980	N	1.595	L	-2.05	D	-0.230	T	0.531	D	0.213	2.605	14.67	5.36	2.014	5.783	13.293	0.394	0.0699501388821	.	.	0.0001	0	0	0	0	3.005e-05	0	0.0007	9.06e-05	14	154602	rs773838747	7.114e-05	7.114e-05	4.628e-05	9.626e-05	0.0008	5.98e-05	5.588e-05	0.0006	0.0006	0	0	0	0	0	0.0002	3.058e-05	4.968e-05	0.0008	2.627e-05	2.625e-05	2.57e-05	2.686e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.94e-05	0	0.0002	0.003	0.68238	D	0.051	0.48855	T	0.722	0.42387	P	0.42	0.45080	B	0.051732	0.22956	N	0.497847	0.97972	0.25162	N	1.745	0.45235	L	-2.05	0.85799	D	-2.13	0.48354	N	0.458	0.49783	-0.2295	0.76900	T	0.531	0.82583	D	10	0.31427723	0.48870	T	0.06995	0.70871	D	0.394	0.70924	0.423	0.46693	0.912223512337	0.91134	0.8354200535952137	0.83502	0.722490668574	0.62282	0.450436472893	0.32003	T	0.389704	0.75007	T	-0.267845	0.11997	T	-0.254924	0.49329	T	0.230829883937955	0.21991	T	0.715628	0.32820	T	0.19639854	0.41465	0.27284893	0.53199	0.19639854	0.41465	0.27284893	0.53198	-6.11	0.47190	T	.	.	0.427	0.61020	A	.;.	.;.	2.686919	0.35067	19.80	0.99384722183372809	0.62068	0.94517	0.61421	D	AEFDBI	0.726972	0.67546	D	0.22767316379507	0.52544	3.427905	0.25245756503039	0.52788	3.451421	0.999753282966633	0.42595	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.36	5.36	0.76624	5.834000	0.69064	7.694000	0.65937	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.088000	0.17685	0.0:0.0:0.0:1.0	13.293	0.59715	906	0.23090	.;.	.	.	.	.	.	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	735.98	34	chr16	25224417	.	T	C	735.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=759;ExcessHet=0.0000;FS=2.195;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=0.069;SOR=1.068	GT:AD:DP:GQ:PL	0/1:36,27:63:99:750,0,918	20	0	1	0
chr16	28489306	28489306	G	A	exonic	CLN3	.	nonsynonymous SNV	CLN3:NM_001286109:exon2:c.C44T:p.S15L	Ceroid lipofuscinosis, neuronal, 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	203289	Neuronal_ceroid_lipofuscinosis_3|not_specified|not_provided|Neuronal_ceroid_lipofuscinosis|Inborn_genetic_diseases	MONDO:MONDO:0008767,MedGen:C0751383,OMIM:204200,Orphanet:228346|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.882	P	0.347	B	0.139	N	0.862	N	0.895	L	-0.26	T	0.366	D	0.800	D	0.184	1.323	10.34	5.48	2.736	5.406	12.206	0.291	0.0882932376902	.	.	3.887e-05	0	0.0002	0	0	1.749e-05	0	7.164e-05	2.59e-05	4	154602	rs769840061	4.792e-05	4.788e-05	5.312e-05	4.267e-05	0.0050	3.863e-05	3.543e-05	0.0036	0.0031	2.988e-05	0.0002	0	0	0	0.0050	2.249e-05	3.314e-05	6.98e-05	4.6e-05	4.593e-05	0	9.408e-05	5.88e-05	2.109e-05	1.527e-05	1.972e-05	1.124e-05	0	0	0	0	0	0	0.0068	5.88e-05	0.0005	0	0.148	0.59928	T	0.401	0.33000	T	0.579	0.44062	P	0.241	0.42509	B	0.139009	0.18358	N	0.586609	0.86229	0.35410	D	1.85	0.49092	L	-4.26	0.97078	D	-1.42	0.61284	N	0.204	0.38541	0.366	0.88587	D	0.800	0.93245	D	10	0.2196686	0.38643	T	0.088293	0.75104	D	0.291	0.61040	0.42	0.46200	0.929176017124	0.92844	0.3151448218445403	0.31427	0.235431891898	0.26076	0.371773540974	0.21086	T	0.725832	0.93750	D	-0.108283	0.35051	T	-0.108604	0.62722	T	0.143896624445915	0.16605	T	0.965203	0.87464	D	0.04372678	0.06865	0.050075732	0.07785	0.04372678	0.06864	0.050075732	0.07785	-4.8	0.37473	T	.	.	0.078	0.50324	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.072553	0.41302	21.3	0.98967051415570084	0.49461	0.77640	0.38198	D	AEFDBI	0.660123	0.63080	D	-0.0407768298404677	0.40014	2.369281	-0.0133917671902929	0.39110	2.313925	0.999999905987374	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	5.073000	0.64223	9.796000	0.81670	0.675000	0.71128	0.745000	0.29079	1.000000	0.68203	0.007000	0.07825	0.0:0.0:0.8297:0.1703	12.206	0.53661	716	0.55970	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1395.98	34	chr16	28489306	.	G	A	1395.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.497e+00;DP=801;ExcessHet=0.0000;FS=2.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=2.76;SOR=0.850	GT:AD:DP:GQ:PL	0/1:46,58:104:99:1410,0,1184	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	0/1:62,11,0:73:99:.:.:108,0,1567,293,1599,1892	11	3	5	1
chr16	29485668	29485668	C	0	exonic	NPIPB12	.	.	.	.	.	580	711	64	0	167	231	0.0430686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	807.49	39	chr16	29485668	.	C	*,G	807.49	.	AC=12,2;AF=0.286,0.048;AN=42;BaseQRankSum=-3.277e+00;DP=2501;ExcessHet=14.4320;FS=3.279;InbreedingCoeff=-0.5000;MLEAC=12,2;MLEAF=0.286,0.048;MQ=29.15;MQRankSum=-1.177e+00;QD=0.44;ReadPosRankSum=-2.008e+00;SOR=0.370	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,17,2:58:99:1|0:29485610_ACACACTC_A:475,0,1441,452,1364,2060:29485610	7	0	12	0
chr16	31360327	31360327	C	G	exonic	ITGAX	.	nonsynonymous SNV	ITGAX:NM_000887:exon8:c.C725G:p.A242G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.066	B	0.017	B	.	.	1.000	N	1.59	L	-1.67	D	-0.634	T	0.401	T	0.139	1.112	9.536	2.6	1.320	0.319	9.258	0.101	0.0292488694906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.757e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.21144	T	0.139	0.33666	T	0.066	0.23586	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	2.015	0.55033	M	-1.67	0.82806	D	-1.69	0.40274	N	0.088	0.09207	-0.6345	0.63380	T	0.401	0.75252	T	9	0.10642916	0.19721	T	0.029249	0.51792	D	0.101	0.28911	0.418	0.45873	0.631602580773	0.62858	0.580785584084518	0.58007	0.215413561457	0.24069	0.279822796583	0.07467	T	0.211377	0.57213	T	-0.102727	0.35974	T	-0.385336	0.35098	T	0.0759893885118709	0.09467	T	0.432057	0.11757	T	0.32753953	0.55269	0.21408725	0.45945	0.32753953	0.55269	0.21408725	0.45944	-5.329	0.40229	T	.	.	0.111	0.23430	B	.;.	.;.	1.367027	0.17764	13.36	0.90572996767062097	0.19827	0.16201	0.19278	N	AEFDBI	0.108268	0.21544	N	-0.724559140907063	0.15332	0.7717987	-0.765275220444868	0.15348	0.8067251	0.999857510691531	0.44174	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.73	2.6	0.30173	0.727000	0.25667	.	.	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.162:0.6806:0.1574:0.0	9.258	0.36757	287	0.88635	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.08824	87.54	43	chr16	31360327	.	C	G	87.54	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.288e+00;DP=930;ExcessHet=0.3300;FS=312.897;InbreedingCoeff=-0.1554;MLEAC=4;MLEAF=0.118;MQ=60.00;MQRankSum=0.00;QD=0.78;ReadPosRankSum=-4.310e-01;SOR=9.289	GT:AD:DP:GQ:PL	0/1:31,15:56:59:59,0,484	14	0	3	4
chr16	31459801	31459801	C	A	exonic	ARMC5	.	nonsynonymous SNV	ARMC5:NM_001105247:exon1:c.C277A:p.P93T	ACTH-independent macronodular adrenal hyperplasia 2, Autosomal dominant, Somatic mutation	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.982	D	0.88	P	.	.	1.000	D	1.39	L	1.0	T	-1.013	T	0.148	T	0.446	3.851	19.56	4.49	2.332	2.029	12.527	0.099	0.0540430712178	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1466072360	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.982	0.60036	D	0.88	0.62516	P	.	.	.	.	0.797933	0.29149	N	0.69	0.16971	N	1.0	0.41392	T	-0.6	0.17834	N	0.408	0.46649	-1.0126	0.26101	T	0.148	0.47416	T	9	0.22276816	0.39037	T	0.054043	0.65705	D	0.099	0.28413	.	.	0.654062484426	0.65118	0.4895303920258219	0.48873	0.616521128411	0.56104	0.753601193428	0.74978	T	0.00958	0.08713	T	-0.104366	0.35702	T	-0.387691	0.34823	T	0.615125610461219	0.37007	D	0.655934	0.32075	T	0.38537815	0.59702	0.46096957	0.68695	0.38537815	0.59703	0.46096957	0.68696	-4.717	0.34463	T	.	.	0.091	0.13032	B	.;.;.;.	.;.;.;.	2.768401	0.36333	20.2	0.98362934249298295	0.40668	0.69304	0.34135	D	ALL	0.189336	0.31659	N	0.318614356103669	0.57103	3.876601	0.32287925553491	0.56888	3.852818	0.99999999999983	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	4.49	4.49	0.54177	-0.114000	0.10729	.	.	0.598000	0.34611	0.000000	0.06391	1.000000	0.68203	0.586000	0.31041	0.0:1.0:0.0:0.0	12.527	0.55442	391	0.83213	.;.;.;.	.	.	.	.	.	Uncertain significance	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	777.98	43	chr16	31459801	.	C	A	777.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=969;ExcessHet=0.0000;FS=0.971;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=0.123;SOR=0.656	GT:AD:DP:GQ:PL	0/1:32,29:61:99:792,0,776	20	0	1	0
chr16	50307110	50307110	G	A	exonic	ADCY7	.	nonsynonymous SNV	ADCY7:NM_001114:exon15:c.G1813A:p.V605I	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.001	B	0.002	B	0.992	N	0.908	D	1.01	L	0.92	T	-1.085	T	0.228	T	0.096	0.039	4.217	-9.52	-2.314	-2.805	5.018	0.082	0.1290419034	0.0002	0.000199681	0.0001	0.0006	0.0005	0	0	1.518e-05	0	6.098e-05	9.7e-05	15	154602	rs138958361	6.233e-05	6.225e-05	6.135e-05	6.333e-05	0.0005	5.168e-05	4.787e-05	0.0004	0.0003	0.0003	0.0005	3.826e-05	2.519e-05	0	0	3.507e-05	0.0001	9.275e-05	0.0002	0.0002	0.0002	0.0002	0.0014	0.0001	0.0001	0.0009	0.0008	0.0001	0	0.0014	0	0.0002	0	0	1.47e-05	0	0.0002	0.276	0.15717	T	0.485	0.11725	T	0.001	0.07471	B	0.002	0.06944	B	0.992238	0.07910	N	1.005240	0.907632	0.36328	D	0.675	0.16386	N	-1.47	0.81067	T	0.1	0.05810	N	0.027	0.05929	-1.0847	0.06462	T	0.228	0.59283	T	10	0.019833535	0.00448	T	0.129042	0.81105	D	0.082	0.23913	.	.	0.465381546717	0.46164	0.13938658249002503	0.13861	0.368983407752	0.38434	0.319498479366	0.13345	T	0.285662	0.65845	T	-0.429999	0.01482	T	-0.501406	0.22201	T	0.0309106249787364	0.02132	T	0.642936	0.25461	T	0.031338852	0.02956	0.029422656	0.01278	0.031338852	0.02955	0.029422656	0.01278	-4.616	0.32372	T	.	.	0.07	0.04932	B	.;.;.	.;.;.	-1.850269	0.00141	0.002	0.78105505012955945	0.12157	0.05353	0.11211	N	AEFDBCI	0.035479	0.04574	N	-2.08822755226594	0.00136	0.005819737	-2.19976531674902	0.00112	0.00492955	0.999999985264479	0.74766	0.700653	0.57754	0	0.702456	0.74545	0	0.717052	0.78885	0	0.655142	0.61905	0	.	.	4.76	-9.52	0.00487	-2.367000	0.01157	-6.625000	0.01348	-1.907000	0.00518	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3274:0.4509:0.0985:0.1232	5.018	0.13687	749	0.51929	.;.;.	.	.	.	.	.	Uncertain significance	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	1208.98	33	chr16	50307110	.	G	A	1208.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.680e-01;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.09;ReadPosRankSum=0.096;SOR=0.705	GT:AD:DP:GQ:PL	0/1:77,56:133:99:1223,0,1881	20	0	1	0
chr16	50669118	50669118	A	G	exonic	SNX20	.	nonsynonymous SNV	SNX20:NM_153337:exon4:c.T313C:p.Y105H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	.	.	0.68	T	-1.008	T	0.075	T	0.027	-0.551	1.503	-2.28	-0.568	-0.033	2.621	0.056	0.00300890923964	.	.	5.021e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs775853805	4.49e-06	8.904e-06	1.484e-06	7.546e-06	6.413e-05	1.62e-06	1.06e-06	2.473e-05	1.56e-05	0	0	0	0	0	0	9.788e-07	0	6.413e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.68	0.51952	T	0.26	0.04380	N	0.105	0.08925	-1.0079	0.27572	T	0.075	0.30303	T	8	0.046744525	0.03904	T	0.003009	0.06457	T	0.056	0.15993	0.142	0.04556	0.17258766438	0.16869	.	.	.	.	.	.	.	.	.	.	-0.461988	0.00955	T	-0.705088	0.05552	T	0.0242726447613716	0.01180	T	.	.	.	.	.	.	.	.	.	.	.	-1.936	0.02949	T	.	.	.	.	.	.	.	0.168040	0.05572	2.031	0.21305222156409784	0.00806	0.00181	0.01060	N	AEFBHCI	0.018182	0.00532	N	-1.44978341585961	0.02218	0.09771435	-1.5702585569571	0.01840	0.08383224	0.999813033384949	0.43459	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.38	-2.28	0.06438	-0.030000	0.12257	0.108000	0.14741	-2.084000	0.00402	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.435:0.0:0.3459:0.2191	2.621	0.04619	763	0.50172	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	1574.94	129	chr16	50669118	.	A	G	1574.94	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.087e+00;DP=2354;ExcessHet=1.7912;FS=129.128;InbreedingCoeff=-0.1838;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=0.663;SOR=9.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,26:178:21:0|1:50669118_A_G:21,0,5460:50669118	15	0	6	0
chr16	50710614	50710614	C	T	exonic	NOD2	.	nonsynonymous SNV	NOD2:NM_001293557:exon3:c.C622T:p.R208C	Blau syndrome, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	103771	Autoinflammatory_syndrome|Inflammatory_bowel_disease_1|Blau_syndrome|Regional_enteritis	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340|MeSH:D003424,MedGen:C0678202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.997	D	0.000	D	1.000	D	1.64	L	-0.57	T	-0.247	T	0.422	T	0.349	0.576	7.112	4.31	1.358	2.206	10.142	0.326	0.273144951438	7.7e-05	0.000199681	0.0001	9.617e-05	0	0	0	0.0002	0	0.0001	0.0001488	23	154602	rs104895422	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	9.833e-05	0.0001	0.0001	8.961e-05	0	0	0	0	0.0005	0.0001	9.934e-05	6.957e-05	0.0001	0.0001	0.0001	0.0001	0.0002	9.142e-05	7.698e-05	0.0001	8.876e-05	0.0002	0	0	0	0	0	0	0.0002	0	0.0002	0.157	0.23997	T	0.1	0.38742	T	0.339	0.90584	B	0.044	0.86255	B	0.000004	0.62929	D	0.000000	0.999785	0.49076	D	1.935	0.51832	L	-0.57	0.71307	T	-2.78	0.58896	D	0.374	0.41557	-0.2472	0.76435	T	0.422	0.76684	T	10	0.16146651	0.30285	T	0.273145	0.89955	D	0.326	0.64826	.	.	0.885238458156	0.88411	0.44981830910260145	0.44899	0.135669409834	0.15297	0.438364863396	0.30353	T	0.282387	0.65513	T	-0.21539	0.18625	T	-0.27287	0.47530	T	0.0767348294851004	0.09564	T	0.924508	0.72366	D	0.14051296	0.32416	0.094750024	0.22442	0.16655628	0.36997	0.09560894	0.22683	-4.9	0.35735	T	0.2727940641977857	0.36670	0.086	0.10545	B	.;.	.;.	3.536036	0.49633	22.8	0.93246938272280111	0.22935	0.87246	0.46727	D	AEFDGBI	0.419949	0.48697	N	0.159152740574724	0.49246	3.127146	0.13292633994911	0.46243	2.873522	0.999999949714139	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.26	4.31	0.50718	1.781000	0.38274	1.753000	0.28490	0.599000	0.40250	0.902000	0.31475	0.926000	0.28431	0.853000	0.40368	0.0:0.9066:0.0:0.0934	10.142	0.41913	701	0.57775	.;.	.	.	.	.	.	Uncertain significance	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	1197.98	33	chr16	50710614	.	C	T	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=808;ExcessHet=0.0000;FS=1.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=0.783;SOR=0.533	GT:AD:DP:GQ:PL	0/1:55,42:97:99:1212,0,1507	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	0/2:82,0,53:137:99:1784,2154,7046,0,3462,3044	17	0	1	0
chr16	70324671	70324671	C	A	exonic	DDX19B	.	nonsynonymous SNV	DDX19B:NM_001257175:exon3:c.C23A:p.A8E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.0	B	0.005	B	0.248	N	1.000	N	-0.44	N	2.54	T	-0.938	T	0.001	T	0.315	0.701	7.740	1.85	0.756	0.757	8.277	0.026	.	0.0106	0.0131789	0.0029	0.0314	0.0005	0	0	0.0003	0.0033	0.0001	0.0029754	460	154602	rs75820607	0.0011	0.0011	0.0012	0.0010	0.0350	0.0011	0.0011	0.0334	0.0327	0.0350	0.0018	0	0	1.873e-05	0.0038	0.0002	0.0022	0.0001	0.0099	0.0100	0.0100	0.0099	0.0337	0.0095	0.0094	0.0322	0.0316	0.0337	0	0.0048	0	0	0	0.0034	0.0004	0.0071	0.0002	0.518	0.15354	T	0.513	0.18125	T	0.0	0.02946	B	0.001	0.06944	B	0.247817	0.15574	N	0.676493	0.999999	0.08975	N	-0.205	0.04094	N	2.54	0.13916	T	-0.5	0.15782	N	0.203	0.22742	-0.9380	0.42932	T	0.001	0.00318	T	10	0.0018434227	0.00025	T	.	.	.	0.026	0.05648	.	.	0.132336055621	0.12781	0.32519731895585924	0.32432	0.828852337507	0.67540	0.335441112518	0.15754	T	0.003	0.28560	T	-0.568411	0.00226	T	-0.565574	0.15858	T	0.00529985601761616	0.00057	T	0.882712	0.70605	D	0.05081075	0.09238	0.079021215	0.17753	0.05081075	0.09238	0.079021215	0.17753	-6.654	0.60687	T	.	.	0.111	0.23290	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.577182	0.20184	14.63	0.87968319624182045	0.17617	0.10844	0.16232	N	AEFBI	0.155054	0.28019	N	-0.878736647308641	0.11349	0.5472366	-0.723612855613738	0.16373	0.8658471	1.32794857613751E-5	0.02871	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.83	1.85	0.24418	0.771000	0.26294	2.189000	0.31192	-0.182000	0.10109	0.012000	0.18695	0.972000	0.29809	0.958000	0.51230	0.0:0.7286:0.0:0.2714	8.277	0.31039	103	0.95740	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;.;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;.;.;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2113.98	34	chr16	70324671	.	C	A	2113.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.775e+00;DP=905;ExcessHet=0.0000;FS=1.941;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=-1.023e+00;SOR=0.889	GT:AD:DP:GQ:PL	0/1:77,90:167:99:2128,0,1947	20	0	1	0
chr16	70903658	70903658	C	T	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon52:c.G8816A:p.R2939K,	Ciliary dyskinesia, primary, 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.019	B	0.01	B	0.056	U	1.000	D	-0.285	N	5.96	T	-0.876	T	0.001	T	0.125	0.458	6.488	-3.75	-0.530	-0.774	12.729	0.031	.	.	0.0151757	.	.	.	.	.	.	.	.	0.0006986	108	154602	rs7188837	0.0013	0.0011	0.0016	0.0010	0.0389	0.0012	0.0011	0.0345	0.0328	0.0389	0.0023	0	0	0	0	6.604e-05	0.0025	5.725e-05	0.0048	0.0094	0.0051	0.0045	0.0238	0.0039	0.0036	0.0193	0.0177	0.0238	0	0.0016	0	0	0	0	0	0.0040	0	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.056125	0.22585	U	0.208574	0.998684	0.21986	N	0.14	0.08730	N	5.96	0.00610	T	0.8	0.01866	N	0.134	0.13055	-0.8757	0.50097	T	0.001	0.00348	T	10	0.0012927651	0.00014	T	.	.	.	0.031	0.07369	0.178	0.08503	0.0551355673512	0.04727	0.07024176400561714	0.06961	.	.	0.276318728924	0.06985	T	0.019093	0.15273	T	-0.689063	0.00042	T	-0.734705	0.04117	T	0.00385953022614399	0.00041	T	.	.	.	0.09015513	0.21088	0.10677997	0.25694	0.09015513	0.21087	0.10677997	0.25693	-2.249	0.04285	T	.	.	0.075	0.05447	B	.	.	-0.098359	0.03650	0.730	0.62893996726318402	0.07080	0.04669	0.10347	N	AEFBI	0.100998	0.20296	N	-1.41849104174756	0.02476	0.1094127	-1.36050720614817	0.03683	0.1723314	0.997256728400133	0.35425	0.59774	0.34471	0	0.596491	0.49125	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.25	-3.75	0.04087	-0.772000	0.04800	-0.607000	0.08241	-0.186000	0.09761	0.000000	0.06391	0.000000	0.08366	0.978000	0.57271	0.0:0.2994:0.0:0.7006	12.729	0.56561	523	0.74147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	86.6	3	chr16	70903658	.	C	T	86.6	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.22;DP=79;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0908;MLEAC=1;MLEAF=0.025;MQ=27.00;MQRankSum=0.00;QD=9.62;ReadPosRankSum=0.464;SOR=0.495	GT:AD:DP:GQ:PL	0/1:5,4:9:99:99,0,132	19	0	1	1
chr16	71476059	71476059	C	T	exonic	ZNF19	.	nonsynonymous SNV	ZNF19:NM_006961:exon6:c.G488A:p.C163Y,	.	.	405	1112	5	0	0	5	0.00224316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.001	D	1.000	D	2.78	M	0.34	T	-0.313	T	0.282	T	0.955	3.549	18.10	3.49	2.250	5.258	13.338	0.540	0.0170179427027	.	0.00219649	0.0007	0	0	0.0083	0	4.498e-05	0	0.0009	0.0006727	104	154602	rs190278786	0.0003	0.0003	0.0003	0.0004	0.0097	0.0003	0.0003	0.0089	0.0086	0	0	0.0005	0.0097	0	0.0002	2.338e-05	0.0004	0.0007	0.0004	0.0004	0.0003	0.0005	0.0094	0.0003	0.0003	0.0073	0.0066	2.405e-05	0	0	0	0.0094	0	0	1.47e-05	0.0009	0.0008	0.029	0.55530	D	0.004	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000877	0.41335	D	0.000000	0.999325	0.81001	D	2.775	0.80997	M	0.34	0.58176	T	-9.78	0.98706	D	0.668	0.74280	-0.3131	0.74617	T	0.282	0.65399	T	10	0.010553688	0.00234	T	0.017018	0.38544	T	0.540	0.80782	.	.	0.853017609679	0.85160	0.28323122065375345	0.28236	0.318075903354	0.34041	0.705370187759	0.67921	T	0.446249	0.78896	T	-0.0305	0.47344	T	0.188399	0.82478	D	0.169650693484362	0.18556	T	0.367963	0.09172	T	0.740345	0.80312	0.58208954	0.75773	0.740345	0.80313	0.58208954	0.75774	-12.744	0.88281	D	.	.	0.953	0.87554	P	.;.;.;.	.;.;.;.	3.677270	0.52319	23.2	0.99710794525760049	0.81353	0.98170	0.80208	D	AEFBI	0.776362	0.70950	D	0.680050018923375	0.78325	6.848878	0.561515078504912	0.72202	5.772839	0.999999999951456	0.74766	0.651	0.46895	0	0.624146	0.53433	0	0.65145	0.50148	0	0.528226	0.09195	0	.	.	3.49	3.49	0.39065	4.705000	0.61527	4.525000	0.43702	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.647000	0.32611	0.0:1.0:0.0:0.0	13.338	0.59971	264	0.89640	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1477.98	42	chr16	71476059	.	C	T	1477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.748e+00;DP=971;ExcessHet=0.0000;FS=0.622;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=0.292;SOR=0.763	GT:AD:DP:GQ:PL	0/1:88,58:146:99:1492,0,2545	20	0	1	0
chr16	71850328	71850328	C	G	exonic	ATXN1L	.	nonsynonymous SNV	ATXN1L:NM_001137675:exon3:c.C588G:p.H196Q,	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.0	B	0.002	B	.	.	0.999	N	1.5	L	1.43	T	-1.017	T	0.005	T	0.136	0.117	4.632	-2.71	-0.342	-0.260	7.311	0.047	.	0.0079	0.0119808	0.0027	0.0234	0.0049	0	0	0	0.0053	0.0001	0.0010026	155	154602	rs61747485	0.0008	0.0008	0.0009	0.0007	0.0285	0.0008	0.0007	0.0270	0.0264	0.0285	0.0017	0	0	0	0.0012	1.298e-05	0.0021	8.835e-05	0.0081	0.0081	0.0086	0.0076	0.0281	0.0077	0.0076	0.0267	0.0262	0.0281	0	0.0034	0	0	0	0.0034	8.82e-05	0.0038	0	0.067	0.35918	T	0.096	0.39340	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	0.99878	0.21910	N	1.845	0.48678	L	1.43	0.32958	T	-1.52	0.36980	N	0.185	0.20129	-1.0166	0.24819	T	0.005	0.01615	T	9	0.0014721155	0.00016	T	.	.	.	0.047	0.12962	0.141	0.04462	0.0482279557977	0.04254	0.5830960056205651	0.58238	.	.	0.494818389416	0.38106	T	0.015668	0.13095	T	-0.599054	0.00148	T	-0.613004	0.11742	T	0.00463879267052449	0.00050	T	0.523848	0.17156	T	0.09097166	0.21304	0.095584214	0.22675	0.09097166	0.21303	0.095584214	0.22675	-3.604	0.17915	T	.	.	0.173	0.37876	B	.	.	0.057436	0.04691	1.335	0.83896611459834725	0.14981	0.48818	0.28293	N	AEFBCI	0.190915	0.31813	N	-0.751143015651418	0.14602	0.728769	-0.718357103580952	0.16504	0.8733746	0.804535770809129	0.24245	0.631515	0.41029	0	0.697927	0.68747	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	5.5	-2.71	0.05633	-0.306000	0.08217	-0.019000	0.12951	0.599000	0.40250	0.009000	0.18154	0.744000	0.26502	0.926000	0.46234	0.0:0.4853:0.1105:0.4042	7.311	0.25647	83	0.96533	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2136.98	33	chr16	71850328	.	C	G	2136.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.113e+00;DP=908;ExcessHet=0.0000;FS=2.536;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=-2.800e-02;SOR=0.524	GT:AD:DP:GQ:PL	0/1:111,85:196:99:2151,0,3203	20	0	1	0
chr16	71947528	71947529	TC	-	exonic	PKD1L3	.	stopgain	PKD1L3:NM_181536:exon22:c.3681_3682del:p.N1228*,	.	.	435	1086	1	0	0	1	0.000460193	.	.	703791	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0064	0.0121805	0.0024	0.0225	0.0024	0	0	0	0.0041	0.0001	0.0023821	62	26028	rs201384669	0.0008	0.0008	0.0009	0.0007	0.0280	0.0007	0.0007	0.0265	0.0259	0.0280	0.0017	0	0	0	0.0012	1.303e-05	0.0020	8.849e-05	0.0081	0.0081	0.0086	0.0075	0.0280	0.0077	0.0075	0.0266	0.0261	0.0280	0	0.0034	0	0	0	0.0034	8.821e-05	0.0038	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1742.94	34	chr16	71947527	.	TTC	T	1742.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.900e-02;DP=866;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.16;ReadPosRankSum=-4.950e-01;SOR=0.625	GT:AD:DP:GQ:PL	0/1:50,46:96:99:1757,0,1921	20	0	1	0
chr16	72056631	72056631	G	A	exonic	HP	.	nonsynonymous SNV	HP:NM_001318138:exon3:c.G190A:p.G64R	.	.	.	.	.	.	.	.	.	0.9976	0.942	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	1.0	D	0.999	D	.	.	1.000	D	2.5	M	0.81	T	-0.670	T	0.283	T	0.768	0.750	7.976	4.84	2.664	4.773	13.650	0.312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.805e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	.	.	.	.	0.857946	0.81001	D	2.955	0.85029	M	0.81	0.48460	T	-0.58	0.83899	N	0.511	0.63204	-0.6699	0.61833	T	0.283	0.65448	T	9	0.66874856	0.70584	D	0.143234	0.82557	D	0.312	0.63375	0.551	0.66716	0.624938293356	0.62188	0.2705249212620448	0.26965	0.288080729046	0.31214	0.703854739666	0.67702	T	0.365288	0.73073	T	0.114526	0.65818	D	-0.0732684	0.65392	T	0.52836860971527	0.33674	D	0.949005	0.80370	D	0.17544976	0.38404	0.20636405	0.44846	0.17544976	0.38404	0.20636405	0.44845	-8.34	0.63364	D	.	.	0.679	0.72087	P	.;.;.;.	.;.;.;.	4.312529	0.65933	24.9	0.77395238562230129	0.11858	0.89573	0.50124	D	AEFBI	0.966484	0.98891	D	0.506739950870263	0.67486	5.088251	0.420222802635425	0.62826	4.504763	0.999481848907043	0.39952	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.84	4.84	0.62125	4.904000	0.62975	11.370000	0.92605	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.066000	0.16387	0.0:0.0:1.0:0.0	13.650	0.61780	174	0.93268	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	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	260.17	9	chr16	72056631	.	G	A,C	260.17	.	AC=4,1;AF=0.286,0.071;AN=14;BaseQRankSum=-3.190e-01;DP=247;ExcessHet=2.2455;FS=0.000;InbreedingCoeff=-0.2704;MLEAC=8,2;MLEAF=0.571,0.143;MQ=39.10;MQRankSum=0.00;QD=3.61;ReadPosRankSum=1.01;SOR=0.180	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,10,0:19:73:.:.:73,0,85,96,111,208	2	0	4	14
chr16	72056631	72056631	G	C	exonic	HP	.	nonsynonymous SNV	HP:NM_001318138:exon3:c.G190C:p.G64R	.	.	.	.	.	.	.	.	.	0.9999	0.886	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	1.0	D	0.999	D	.	.	1.000	D	2.5	M	0.81	T	-0.670	T	0.283	T	0.768	0.630	7.385	4.84	2.664	4.773	13.650	0.312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	.	.	.	.	1	0.81001	D	2.955	0.85029	M	0.81	0.48460	T	-0.58	0.83899	N	0.511	0.63204	-0.6699	0.61833	T	0.283	0.65448	T	9	0.6627866	0.70252	D	.	.	.	0.312	0.63375	0.551	0.66716	0.624938293356	0.62188	0.2705249074910103	0.26965	0.288080729046	0.31214	0.703854739666	0.67702	T	0.365288	0.73073	T	0.114535	0.65818	D	-0.0732555	0.65393	T	0.499475828049257	0.32610	T	0.949005	0.80370	D	0.17544976	0.38404	0.20636405	0.44846	0.17544976	0.38404	0.20636405	0.44845	-8.34	0.63364	D	.	.	0.679	0.72087	P	.;.;.;.	.;.;.;.	4.045414	0.59928	24.2	0.75314754377524518	0.11027	0.91508	0.53678	D	AEFBI	0.967500	0.98997	D	0.506739950870263	0.67486	5.088251	0.420222802635425	0.62826	4.504763	0.999481848907043	0.39952	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.84	4.84	0.62125	4.904000	0.62975	11.370000	0.92605	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.066000	0.16387	0.0:0.0:1.0:0.0	13.650	0.61780	174	0.93268	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	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	260.17	9	chr16	72056631	.	G	A,C	260.17	.	AC=4,1;AF=0.286,0.071;AN=14;BaseQRankSum=-3.190e-01;DP=247;ExcessHet=2.2455;FS=0.000;InbreedingCoeff=-0.2704;MLEAC=8,2;MLEAF=0.571,0.143;MQ=39.10;MQRankSum=0.00;QD=3.61;ReadPosRankSum=1.01;SOR=0.180	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,10,0:19:73:.:.:73,0,85,96,111,208	2	0	4	14
chr16	75478823	75478823	C	T	exonic	CHST6	.	nonsynonymous SNV	CHST6:NM_021615:exon3:c.G1006A:p.A336T,	Macular corneal dystrophy, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1556609	Macular_corneal_dystrophy	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800,Orphanet:98969	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.62	T	0.0	B	0.004	B	0.055	N	1.000	N	0.2	N	-1.55	D	-0.930	T	0.118	T	0.052	-0.625	1.227	-3.69	-1.166	-1.243	5.882	0.090	0.01802706084	0.0020	0.00159744	0.0006	0.0068	0.0002	0	0	0	0	0	0.0005175	80	154602	rs79173362	0.0002	0.0002	0.0002	0.0002	0.0079	0.0002	0.0002	0.0071	0.0068	0.0079	0.0003	0	0	0	0.0002	0	0.0005	0	0.0019	0.0019	0.0018	0.0021	0.0068	0.0018	0.0017	0.0062	0.0059	0.0068	0	0.0007	0	0	0	0	0	0.0009	0	0.888	0.02495	T	0.785	0.04260	T	0.0	0.02946	B	0.004	0.10090	B	0.055044	0.22673	N	0.477990	1	0.08975	N	0.215	0.09537	N	-1.55	0.81727	D	-0.07	0.08033	N	0.032	0.06587	-0.9297	0.44183	T	0.118	0.41516	T	10	0.0050878823	0.00110	T	0.018027	0.39953	T	0.090	0.26093	.	.	0.516381326315	0.51281	0.4260806261568185	0.42525	0.314280072756	0.33708	0.301735401154	0.10659	T	0.383072	0.74501	T	-0.542346	0.00324	T	-0.547953	0.17522	T	0.00447365236315178	0.00048	T	0.145085	0.01183	T	0.031774037	0.03079	0.051874332	0.08436	0.031774037	0.03079	0.051874332	0.08436	-5.809	0.44653	T	0.12179778672738716	0.11598	0.067	0.02548	B	.;.;.	.;.;.	-0.070713	0.03818	0.814	0.91762451250639243	0.21064	0.01241	0.04378	N	AEFDGBI	0.070561	0.14012	N	-1.48790777521289	0.01934	0.0849303	-1.455349714054	0.02722	0.1257179	0.99993776965456	0.46732	0.787689	0.99735	0	0.588066	0.40923	0	0.0	0.00061	3	0.586402	0.36253	0	.	.	4.9	-3.69	0.04162	-1.225000	0.03066	-2.136000	0.04160	-0.445000	0.05159	0.000000	0.06391	0.000000	0.08366	0.951000	0.49849	0.1225:0.4111:0.0:0.4664	5.882	0.18105	657	0.62240	Sulfotransferase domain;Sulfotransferase domain;Sulfotransferase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2569.98	36	chr16	75478823	.	C	T	2569.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.955e+00;DP=945;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=-1.667e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:92,104:196:99:2584,0,2356	20	0	1	0
chr16	76540767	76540767	C	G	exonic	CNTNAP4	.	nonsynonymous SNV	CNTNAP4:NM_001322178:exon20:c.C3269G:p.S1090C	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.114	N	0.898	D	.	.	0.97	T	-0.575	T	0.146	T	0.684	3.726	18.92	4.7	1.632	4.348	10.848	0.258	0.0582267421171	0.0011	0.00219649	0.0010	0.0089	0.0018	0	0	0	0.0032	0	0.0004204	65	154602	rs147050576	0.0002	0.0002	0.0002	0.0002	0.0047	0.0001	0.0001	0.0041	0.0039	0.0047	0.0005	0	0	0	0.0004	2.295e-05	0.0005	3.72e-05	0.0014	0.0014	0.0014	0.0014	0.0043	0.0012	0.0012	0.0038	0.0036	0.0043	0	0.0020	0	0	0	0	2.941e-05	0	0.0002	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.994	0.88582	D	0.113725	0.19303	N	0.377447	0.897627	0.36095	D	.	.	.	0.97	0.42502	T	-3.78	0.71519	D	0.699	0.73285	-0.5745	0.65836	T	0.146	0.46950	T	9	0.015933037	0.00335	T	0.058227	0.67243	D	0.258	0.56959	.	.	0.698858692784	0.69625	0.577456133540255	0.57674	0.163869458312	0.18484	0.56249153614	0.47619	T	0.518275	0.87505	D	-0.300281	0.08633	T	-0.20398	0.54269	T	0.0674210209633076	0.08285	T	0.816718	0.47282	T	0.07280776	0.16224	0.08303052	0.18998	0.07280776	0.16224	0.08303052	0.18998	-12.231	0.86662	D	.	.	0.203	0.45359	B	.;.;.;.;.;.	.;.;.;.;.;.	4.410821	0.68239	25.2	0.99025461757986422	0.50677	0.98373	0.82117	D	AEFI	0.633708	0.61385	D	0.399320231543231	0.61385	4.338923	0.378682329541583	0.60251	4.210795	0.0175381296315155	0.12961	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.65	4.7	0.58776	4.398000	0.59457	5.808000	0.49986	-0.202000	0.08738	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.8578:0.0:0.1422	10.848	0.45960	896	0.25515	Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;.;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	762.98	37	chr16	76540767	.	C	G	762.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.091e+00;DP=762;ExcessHet=0.0000;FS=2.021;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=0.753;SOR=0.672	GT:AD:DP:GQ:PL	0/1:33,34:67:99:777,0,842	20	0	1	0
chr16	81043411	81043411	A	G	exonic	ATMIN	.	nonsynonymous SNV	ATMIN:NM_001300728:exon4:c.A445G:p.K149E	.	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.979	D	0.604	P	0.000	D	1.000	D	2.045	M	4.09	T	-1.089	T	0.003	T	0.597	3.169	16.60	6.08	2.333	8.699	16.644	0.169	.	0.0005	0.0105831	0.0073	0	0.0004	0.0508	0.0393	0.0022	0.0198	0.0012	0.0062548	967	154602	rs2278023	0.0032	0.0032	0.0033	0.0032	0.0450	0.0031	0.0031	0.0432	0.0425	0	0.0003	0.0014	0.0450	0.0382	0.0009	0.0004	0.0033	0.0017	0.0058	0.0059	0.0033	0.0086	0.0462	0.0055	0.0054	0.0413	0.0395	4.841e-05	0	0.0001	0.0014	0.0462	0.0494	0	0.0015	0.0038	0.0031	0.002	0.72154	D	0.018	0.59732	D	0.979	0.59044	D	0.604	0.50922	P	0.000001	0.84330	D	0.128026	0.999772	0.48980	D	2.825	0.82220	M	4.09	0.02973	T	-0.93	0.28906	N	0.472	0.50778	-1.0890	0.05701	T	0.003	0.00897	T	10	0.0051190555	0.00111	T	.	.	.	0.169	0.43123	.	.	0.435152311215	0.43136	0.43017945062551205	0.42934	0.0487222803821	0.05321	0.444493472576	0.31191	T	0.198759	0.55584	T	-0.375265	0.03336	T	-0.277511	0.47059	T	0.119603361307646	0.14391	T	0.906209	0.66975	D	0.4336957	0.62994	0.4473388	0.67817	0.4336957	0.62994	0.4473388	0.67817	-6.595	0.51015	T	.	.	0.297	0.62874	B	.;.;.	.;.;.	3.151061	0.42657	21.6	0.99713206301609769	0.81493	0.99607	0.97932	D	AEFBI	0.903581	0.85284	D	0.709241146161883	0.80239	7.250273	0.746098032474801	0.85866	8.709907	0.99999998011676	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.08	6.08	0.98982	8.744000	0.91285	8.085000	0.76497	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	1.0:0.0:0.0:0.0	16.644	0.85012	691	0.58815	.;.;.	.	.	.	.	rs2278023	Uncertain significance	0	0	0	0	0	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	1545.98	45	chr16	81043411	.	A	G	1545.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.01;DP=878;ExcessHet=0.0000;FS=0.768;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.97;MQRankSum=1.09;QD=15.01;ReadPosRankSum=1.43;SOR=0.827	GT:AD:DP:GQ:PL	0/1:48,55:103:99:1560,0,1133	20	0	1	0
chr16	81121700	81121700	C	T	exonic	PKD1L2	.	unknown	UNKNOWN,	.	.	424	1087	11	0	0	11	0.00503432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0.0109824	0.0100	0.0063	0.0038	0.0450	0.0516	0.0037	0.0302	0.0030	0.0061966	958	154602	rs75985298	0.0039	0.0039	0.0039	0.0039	0.0405	0.0038	0.0038	0.0387	0.0380	0.0060	0.0024	4.531e-05	0.0405	0.0379	0.0048	0.0013	0.0044	0.0015	0.0073	0.0073	0.0049	0.0097	0.0330	0.0069	0.0068	0.0289	0.0274	0.0048	0.0176	0.0013	0	0.0330	0.0496	0	0.0023	0.0038	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	592.98	35	chr16	81121700	.	C	T	592.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.532;DP=730;ExcessHet=0.0000;FS=1.225;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=1.07;SOR=0.440	GT:AD:DP:GQ:PL	0/1:21,25:46:99:607,0,450	20	0	1	0
chr16	81262222	81262222	C	T	exonic	BCO1	.	nonsynonymous SNV	BCO1:NM_017429:exon4:c.C410T:p.A137V,	Hypercarotenemia and vitamin A deficiency, autosomal dominant, Autosomal dominant	.	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.982	D	0.6	P	0.000	N	1.000	D	2.055	M	-4.12	D	0.716	D	0.862	D	0.529	3.400	17.48	3.85	0.807	3.752	12.759	0.578	0.204026905421	0.0002	.	0.0001	0	8.637e-05	0	0.0002	0.0002	0	0.0001	0.0001035	16	154602	rs200428274	9.373e-05	9.44e-05	9.531e-05	9.214e-05	0.0005	8.094e-05	7.586e-05	0.0003	0.0003	5.975e-05	8.945e-05	0	0.0005	5.619e-05	0.0005	7.735e-05	0.0002	9.275e-05	0.0001	0.0001	7.712e-05	0.0002	0.0004	8.167e-05	6.724e-05	0.0001	0.0001	0	0	0	0	0.0004	0	0	0.0002	0	0.0004	0.418	0.10180	T	0.751	0.10930	T	0.769	0.43848	P	0.373	0.43650	B	0.000060	0.53742	N	0.168397	0.999968	0.58761	D	0.96	0.23930	L	-4.12	0.96716	D	0.09	0.24676	N	0.539	0.56662	0.716	0.93374	D	0.862	0.95414	D	10	0.36197662	0.52804	T	0.204027	0.86908	D	0.578	0.82968	.	.	0.78846018172	0.78650	0.8931149454751038	0.89281	0.194470852818	0.21783	0.55470252037	0.46520	T	0.680121	0.90599	D	-0.0315021	0.47200	T	-0.0185987	0.69120	D	0.121600307524204	0.14585	T	0.861914	0.55630	D	0.12858452	0.30056	0.13817926	0.33008	0.13946074	0.32215	0.13791758	0.32951	-3.045	0.10674	T	0.30232274671209736	0.39975	0.262	0.51686	B	.;.	.;.	2.814344	0.37057	20.4	0.99826981126095859	0.90939	0.93899	0.59514	D	AEFDBI	0.465164	0.51335	N	0.117604705754499	0.47284	2.956293	0.0558323432610475	0.42354	2.560354	0.999952737178815	0.48110	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.79	3.85	0.43556	3.852000	0.55642	4.827000	0.45167	0.590000	0.31872	0.998000	0.41325	1.000000	0.68203	0.544000	0.30032	0.0:0.8664:0.0:0.1336	12.759	0.56730	935	0.14827	.;.	.	.	.	.	.	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	1649.98	35	chr16	81262222	.	C	T	1649.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.813;DP=938;ExcessHet=0.0000;FS=1.303;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=-3.370e-01;SOR=0.575	GT:AD:DP:GQ:PL	0/1:76,69:145:99:1664,0,1786	20	0	1	0
chr16	85654892	85654892	T	C	exonic	GSE1	.	nonsynonymous SNV	GSE1:NM_001134473:exon4:c.T386C:p.M129T	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.493	P	0.079	B	0.000	D	1.000	D	1.995	M	1.43	T	-1.074	T	0.074	T	0.637	2.836	15.45	5.09	1.913	5.530	14.858	0.166	0.0339245641544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.58626	D	0.023	0.72224	D	0.361	0.37004	B	0.036	0.28749	B	0.000000	0.84330	D	0.074289	1	0.81001	D	2.095	0.58118	M	1.43	0.33189	T	-2.39	0.72120	N	0.561	0.58543	-1.0740	0.08556	T	0.074	0.29960	T	10	0.2251372	0.39335	T	0.033925	0.55325	D	0.166	0.42578	0.14	0.04369	0.29527378943	0.29149	0.6011286794930265	0.60043	.	.	0.504978895187	0.39522	T	0.118753	0.43980	T	0.00599225	0.52478	T	-0.229169	0.51853	T	0.886191189289093	0.53659	D	0.869413	0.77539	D	0.46211714	0.64802	0.35876587	0.61347	0.46211714	0.64803	0.35876587	0.61347	-10.309	0.79245	D	.	.	0.396	0.63538	A	.;.;.;.	.;.;.;.	3.332787	0.45886	22.2	0.97814927934623408	0.36155	0.97853	0.77620	D	AEFBCI	0.688159	0.64926	D	0.0968822354086205	0.46317	2.873936	0.184056892517323	0.48974	3.106287	0.99999999996819	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	5.09	5.09	0.68647	5.543000	0.66933	6.125000	0.53838	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:0.0:1.0	14.858	0.69986	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1471.98	37	chr16	85654892	.	T	C	1471.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.700e-01;DP=861;ExcessHet=0.0000;FS=0.610;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.50;ReadPosRankSum=-1.650e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/1:85,70:155:99:1486,0,1980	20	0	1	0
chr16	86511045	86511045	A	G	exonic	FOXF1	.	nonsynonymous SNV	FOXF1:NM_001451:exon1:c.A476G:p.N159S,	Alveolar capillary dysplasia with misalignment of pulmonary veins, Autosomal dominant	.	0	1509	13	0	0	13	0.00428901	.	.	342529	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.19	T	0.137	B	0.083	B	0.000	D	1.000	D	1.405	L	-3.74	D	0.204	D	0.611	D	0.097	2.170	13.21	4.37	1.597	6.844	12.731	0.347	.	7.7e-05	0.00379393	0.0028	0.0002	0	0.0340	0.0002	0.0003	0.0023	0.0007	0.0024256	375	154602	rs117800841	0.0018	0.0018	0.0018	0.0018	0.0560	0.0017	0.0017	0.0540	0.0532	2.987e-05	4.472e-05	3.827e-05	0.0560	9.799e-05	0.0009	0.0001	0.0015	0.0013	0.0013	0.0014	0.0010	0.0016	0.0330	0.0012	0.0011	0.0289	0.0274	7.231e-05	0	0.0002	0.0003	0.0330	0	0	0.0002	0	0.0025	0.114	0.28646	T	0.399	0.15059	T	0.137	0.27402	B	0.083	0.29179	B	0.000002	0.62929	D	0.056332	1	0.81001	D	1.155	0.29575	L	-3.74	0.95493	D	-1.62	0.38924	N	0.45	0.48780	0.204	0.85984	D	0.611	0.86237	D	10	0.0076615512	0.00174	T	.	.	.	0.347	0.66863	.	.	0.866355195852	0.86505	0.7506794559549024	0.75014	.	.	0.733849644661	0.72068	T	0.340542	0.70955	T	-0.328039	0.06261	T	-0.180603	0.56468	T	0.0151238544479257	0.00329	T	0.845915	0.52533	T	0.15096663	0.34342	0.12861525	0.30941	0.15995057	0.35902	0.13424526	0.32171	-5.594	0.42737	T	0.1651086525744122	0.20447	0.12	0.24767	B	.	.	3.525434	0.49441	22.8	0.94027428675487024	0.24139	0.98606	0.84623	D	AEFDBHCIJ	0.925867	0.90609	D	0.0256078005001723	0.43020	2.603369	0.15618619600794	0.47471	2.977	0.999999999998126	0.74766	0.65757	0.49021	0	0.541168	0.11318	0	0.606814	0.37721	0	0.604282	0.37693	0	.	.	4.37	4.37	0.51830	6.874000	0.75347	5.138000	0.47694	0.734000	0.85920	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	12.731	0.56570	982	0.03397	.	.	.	.	.	.	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	2501.98	36	chr16	86511045	.	A	G	2501.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=915;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.94;MQRankSum=-9.890e-01;QD=13.60;ReadPosRankSum=0.539;SOR=0.737	GT:AD:DP:GQ:PL	0/1:92,92:184:99:2516,0,2408	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	0/3:42,0,0,48,0,0:90:99:1853,1983,3751,1983,3751,3751,0,1767,1767,1623,1983,3751,3751,1767,3751,1983,3751,3751,1767,3751,3751	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	0/3:42,0,0,48,0,0:90:99:1853,1983,3751,1983,3751,3751,0,1767,1767,1623,1983,3751,3751,1767,3751,1983,3751,3751,1767,3751,3751	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	0/3:42,0,0,48,0,0:90:99:1853,1983,3751,1983,3751,3751,0,1767,1767,1623,1983,3751,3751,1767,3751,1983,3751,3751,1767,3751,3751	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	0/3:42,0,0,48,0,0:90:99:1853,1983,3751,1983,3751,3751,0,1767,1767,1623,1983,3751,3751,1767,3751,1983,3751,3751,1767,3751,3751	4	4	6	0
chr16	88436039	88436039	G	C	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G8569C:p.V2857L,	Brittle cornea syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.005	B	0.006	B	.	.	1.000	N	0.55	N	0.93	T	-1.033	T	0.051	T	0.09	-0.010	3.964	-3.42	-0.624	-0.269	1.749	0.047	0.290819134338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.642e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.15930	T	0.198	0.27767	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.93	0.44065	T	-0.88	0.23808	N	0.098	0.07949	-1.0330	0.19490	T	0.051	0.21572	T	9	0.033857733	0.01574	T	0.290819	0.90557	D	0.047	0.12962	0.062	0.00241	0.0482279557977	0.04254	0.05778466525355656	0.05719	.	.	0.34829890728	0.17672	T	0.013528	0.11682	T	-0.315388	0.07282	T	-0.69081	0.06343	T	0.0342345647513866	0.02677	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.38480	B	.;.	.;.	-0.302853	0.02606	0.323	0.36900263803691985	0.02400	0.09517	0.15255	N	AEFDBI	0.090526	0.18343	N	-1.38570647527791	0.02771	0.1228472	-1.41714451955664	0.03080	0.1429999	0.813156251799272	0.24391	0.646311	0.45356	0	0.547309	0.14657	0	0.578056	0.29568	0	0.699875	0.68795	0	.	.	5.28	-3.42	0.04521	-0.197000	0.09519	-0.427000	0.09246	-0.673000	0.04287	0.000000	0.06391	0.000000	0.08366	0.162000	0.20715	0.4266:0.2183:0.232:0.1232	1.749	0.02789	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.15	851.14	104	chr16	88436039	.	G	C	851.14	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.850e+00;DP=2947;ExcessHet=1.7912;FS=169.057;InbreedingCoeff=-0.1947;MLEAC=6;MLEAF=0.150;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=1.04;SOR=12.397	GT:AD:DP:GQ:PL	0/1:104,46:150:99:246,0,1680	14	0	6	1
chr16	88714906	88714906	C	T	exonic	CTU2	.	nonsynonymous SNV	CTU2:NM_001318513:exon12:c.C1138T:p.R380C	.	.	422	1096	4	0	0	4	0.00182149	.	.	1336385	not_provided|not_specified|Congenital_anomaly_of_kidney_and_urinary_tract	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.992	D	0.000	D	1.000	D	1.1	L	0.37	T	-0.633	T	0.196	T	0.841	4.045	20.8	4.96	2.452	0.214	16.328	0.333	0.124010016904	0.0009	0.00139776	0.0008	0.0003	0.0005	0.0002	0	0.0011	0.0011	0.0007	0.0008021	124	154602	rs139862860	0.0010	0.0010	0.0010	0.0010	0.0030	0.0010	0.0010	0.0019	0.0015	0.0001	0.0010	0.0006	0.0001	9.608e-05	0.0030	0.0012	0.0009	0.0006	0.0009	0.0009	0.0010	0.0008	0.0025	0.0008	0.0007	0.0019	0.0017	0.0002	0	0.0025	0.0003	0	0	0.0034	0.0012	0.0005	0.0004	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.97	0.77487	D	0.000005	0.62929	D	0.059199	1	0.81001	D	2.475	0.71894	M	0.37	0.57729	T	-5.55	0.96495	D	0.669	0.68429	-0.6335	0.63422	T	0.196	0.55100	T	10	0.03499955	0.01730	T	0.12401	0.80529	D	0.333	0.65522	.	.	0.693269563663	0.69063	0.5870375235625842	0.58633	.	.	0.528743028641	0.42857	T	0.104731	0.67706	T	-0.0858011	0.38768	T	0.0584245	0.74141	D	0.0607768665229965	0.07290	T	0.965603	0.87267	D	0.49833596	0.66998	0.4300465	0.66668	0.4568602	0.64476	0.42384407	0.66243	-9.622	0.76374	D	0.7428548585002239	0.82494	0.258	0.69979	B	.;.;.;.	.;.;.;.	4.457842	0.69356	25.4	0.9992298225199141	0.98852	0.46456	0.27764	N	AEFBHCI	0.320989	0.42392	N	0.224462922010875	0.52386	3.413175	0.165119332745765	0.47949	3.017584	0.999976245816698	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.96	4.96	0.65153	0.470000	0.21795	3.910000	0.40403	0.599000	0.40250	0.135000	0.23427	1.000000	0.68203	0.852000	0.40310	0.0:1.0:0.0:0.0	16.328	0.82828	895	0.25842	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	828.98	49	chr16	88714906	.	C	T	828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.481e+00;DP=1189;ExcessHet=0.0000;FS=8.510;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-2.200e-01;SOR=0.520	GT:AD:DP:GQ:PL	0/1:32,35:67:99:843,0,832	20	0	1	0
chr16	88732430	88732430	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon21:c.G2896A:p.V966M,	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1781262	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	0.982	D	0.401	B	0.234	N	1.000	D	1.03	L	0.99	T	-1.110	T	0.072	T	0.294	0.937	8.816	2.24	0.528	0.324	6.575	0.025	0.476174032158	.	.	.	.	.	.	.	.	.	.	.	.	.	rs955881366	3.149e-05	3.01e-05	3.107e-05	3.192e-05	8.397e-05	2.387e-05	2.126e-05	2.226e-05	1.217e-05	6.332e-05	2.803e-05	0	8.397e-05	0	0	1.947e-05	0.0002	5.049e-05	3.942e-05	3.94e-05	1.284e-05	6.723e-05	0.0004	1.715e-05	1.129e-05	6.801e-05	2.847e-05	4.826e-05	0	0	0	0.0004	0	0	2.94e-05	0	0	0.304	0.14303	T	0.003	0.76473	D	0.982	0.60036	D	0.401	0.44513	B	0.233572	0.15865	N	0.622148	0.999507	0.21084	N	2.28	0.64929	M	0.99	0.41750	T	-0.68	0.19509	N	0.398	0.43899	-1.1097	0.03096	T	0.072	0.29130	T	10	0.19280681	0.35025	T	0.476174	0.94763	D	0.053	0.14996	.	.	0.0934897674506	0.08844	0.46215571002310696	0.46133	.	.	0.6915615201	0.65930	T	0.007896	0.07275	T	-0.385051	0.02894	T	-0.489154	0.23479	T	0.128229963059526	0.15217	T	0.827017	0.49049	T	0.038312484	0.05080	0.041838747	0.04846	0.038312484	0.05079	0.041838747	0.04846	-6.704	0.51840	T	0.2910657172773112	0.38762	0.287	0.51891	B	.	.	2.457603	0.31654	18.81	0.99221282731843141	0.55901	0.19593	0.20721	N	AEFDGBHCI	0.082283	0.16659	N	-0.310965223703567	0.28730	1.587139	-0.389676383155318	0.25303	1.390719	0.999994309456818	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.717052	0.78885	0	0.714379	0.83352	0	.	.	4.27	2.24	0.27264	0.219000	0.17426	0.790000	0.21560	0.524000	0.24156	0.032000	0.20554	0.230000	0.23777	0.130000	0.19568	0.1471:0.6865:0.0:0.1664	6.575	0.21753	867	0.32089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1069.98	35	chr16	88732430	.	C	T	1069.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.340e-01;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=1.65;SOR=0.686	GT:AD:DP:GQ:PL	0/1:35,45:80:99:1084,0,804	20	0	1	0
chr16	88885186	88885186	C	T	exonic	CBFA2T3	.	nonsynonymous SNV	CBFA2T3:NM_175931:exon6:c.G719A:p.R240H	.	.	426	1069	27	0	0	27	0.0124711	.	.	2817958	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.95	D	0.032	N	1.000	D	2.14	M	1.28	T	-0.545	T	0.216	T	0.592	4.907	28.3	4.37	2.422	5.291	16.188	0.161	.	0.0033	0.00279553	0.0035	0.0005	0.0020	0	0.0009	0.0050	0.0111	0.0028	0.0033441	517	154602	rs61757659	0.0040	0.0040	0.0039	0.0042	0.0153	0.0039	0.0039	0.0128	0.0118	0.0007	0.0031	0.0039	2.542e-05	0.0009	0.0153	0.0044	0.0038	0.0038	0.0036	0.0036	0.0036	0.0035	0.0056	0.0033	0.0032	0.0051	0.0050	0.0009	0	0.0047	0.0020	0.0002	0.0014	0.0136	0.0056	0.0062	0.0029	0.049	0.49117	D	0.538	0.28860	T	0.99	0.90584	D	0.855	0.68788	P	0.032305	0.25047	N	0.366932	0.999998	0.58761	D	2.72	0.79541	M	1.28	0.53302	T	-1.95	0.47852	N	0.651	0.66187	-0.5451	0.66971	T	0.216	0.57823	T	10	0.008305252	0.00188	T	.	.	.	0.161	0.41658	.	.	0.687375672215	0.68469	0.35749645402748087	0.35663	0.167897587978	0.18931	0.56410574913	0.47847	T	0.276639	0.64923	T	-0.310053	0.07744	T	-0.216366	0.53085	T	0.0260794350214629	0.01417	T	0.933007	0.74900	D	0.13668959	0.31678	0.09668897	0.22984	0.13668959	0.31678	0.09668897	0.22983	-9.007	0.67743	D	.	.	0.101	0.37746	B	.;.;.	.;.;.	4.357269	0.66971	25.0	0.9994995678213926	0.99938	0.98801	0.87029	D	AEFBI	0.889615	0.82387	D	0.612050783192237	0.73934	6.048133	0.565833870080573	0.72508	5.820615	0.999999999951449	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.37	4.37	0.51830	5.503000	0.66679	2.632000	0.33699	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.433000	0.27516	0.0:1.0:0.0:0.0	16.188	0.81781	830	0.39242	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	526.98	35	chr16	88885186	.	C	T	526.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.440e-01;DP=766;ExcessHet=0.0000;FS=2.267;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.93;ReadPosRankSum=0.093;SOR=0.408	GT:AD:DP:GQ:PL	0/1:35,24:59:99:541,0,898	20	0	1	0
chr16	89223213	89223213	A	C	exonic	ZNF778	.	nonsynonymous SNV	ZNF778:NM_001201407:exon4:c.A174C:p.L58F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.996	D	0.849	P	.	.	1.000	N	1.605	L	4.41	T	-0.986	T	0.011	T	0.292	2.359	13.85	0.502	0.114	-0.043	2.365	0.049	0.000910065823908	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160998634	8.209e-06	8.209e-06	5.445e-06	1.1e-05	4.497e-06	4.38e-06	3.46e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0.0001	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.174	0.23271	T	0.064	0.52060	T	0.996	0.68779	D	0.849	0.60615	P	.	.	.	.	1	0.19694	N	.	.	.	4.41	0.02196	T	-2.6	0.69357	D	0.109	0.09490	-0.9860	0.33590	T	0.011	0.04274	T	9	0.18107283	0.33321	T	9.1E-4	0.00866	T	0.049	0.13647	0.507	0.60232	0.470072546239	0.46634	0.02576230043257849	0.02527	0.0190931184289	0.01861	0.231064796448	0.02048	T	0.02089	0.16365	T	-0.232802	0.16279	T	-0.572181	0.15251	T	0.847327351570129	0.49937	D	0.119088	0.00917	T	0.12687463	0.29705	0.14142488	0.33679	0.12687463	0.29705	0.14142488	0.33678	-7.04	0.54325	T	.	.	0.199	0.42170	B	.;.;.	.;.;.	1.356920	0.17655	13.29	0.99641406888843054	0.76695	0.01024	0.03847	N	AEFBI	0.027721	0.02315	N	-0.390834634626758	0.25795	1.40292	-0.598888968988773	0.19521	1.04777	0.00229404298618226	0.09302	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.65	0.502	0.16138	-0.347000	0.07799	-0.773000	0.07487	0.751000	0.87719	0.010000	0.18352	0.000000	0.08366	0.786000	0.37147	0.497:0.3032:0.1997:0.0	2.365	0.04053	819	0.41190	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	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	2178.98	37	chr16	89223213	.	A	C	2178.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.883;DP=883;ExcessHet=0.0000;FS=4.281;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=0.148;SOR=0.443	GT:AD:DP:GQ:PL	0/1:94,90:184:99:2193,0,2314	20	0	1	0
chr16	89227184	89227184	G	A	exonic	ZNF778	.	nonsynonymous SNV	ZNF778:NM_182531:exon6:c.G812A:p.R271H	.	.	432	1076	14	0	0	14	0.00646353	.	.	2817990	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-2.325	N	2.63	T	-0.937	T	0.005	T	0.067	-1.546	0.015	-0.143	-0.041	3.577	4.470	0.097	0.000700706001017	0.0023	0.00139776	0.0024	0.0008	0.0020	0.0002	0	0.0036	0.0022	0.0008	0.0024321	376	154602	rs183870297	0.0035	0.0035	0.0036	0.0035	0.0111	0.0035	0.0034	0.0089	0.0081	0.0010	0.0024	0.0029	0.0002	7.492e-05	0.0111	0.0040	0.0043	0.0015	0.0026	0.0026	0.0027	0.0026	0.0042	0.0024	0.0023	0.0034	0.0033	0.0010	0	0.0042	0.0040	0.0008	0	0.0068	0.0038	0.0024	0.0019	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.935	0.00016	N	2.63	0.12884	T	5.76	0.00011	N	0.058	0.02964	-0.9371	0.43072	T	0.005	0.01833	T	9	0.005420834	0.00119	T	7.01E-4	0.00435	T	0.097	0.27909	.	.	0.136095386433	0.13204	0.015147297876536781	0.01470	0.00435782311993	0.00387	0.393539071083	0.24167	T	0.004793	0.04206	T	-0.685007	0.00045	T	-0.754823	0.03301	T	0.00479767548091291	0.00051	T	0.245875	0.03603	T	0.012219345	0.00029	0.023916466	0.00405	0.012219345	0.00029	0.023916466	0.00405	-0.142	0.00517	T	.	.	0.074	0.17275	B	.;.;.	.;.;.	-0.372896	0.02317	0.246	0.72451221620821593	0.09978	0.00109	0.00694	N	AEFBCI	0.011613	0.00106	N	-1.5327999540654	0.01638	0.07161176	-1.43926126578857	0.02868	0.132767	0.272703661646599	0.18908	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.13	-0.143	0.12787	2.924000	0.48572	0.484000	0.18835	-0.076000	0.16278	0.148000	0.23625	0.000000	0.08366	0.001000	0.02609	0.7788:0.0:0.2212:0.0	4.470	0.11129	819	0.41190	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	2436.98	143	chr16	89227184	.	G	A	2436.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.880e-01;DP=3033;ExcessHet=0.0000;FS=3.398;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.61;ReadPosRankSum=2.13;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,96:179:99:0|1:89227184_G_A:2451,0,2082:89227184	20	0	1	0
chr16	89227697	89227697	C	T	exonic	ZNF778	.	nonsynonymous SNV	ZNF778:NM_182531:exon6:c.C1325T:p.T442I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.335	B	0.085	B	.	.	0.999	N	-0.38	N	2.66	T	-0.978	T	0.010	T	0.254	-0.124	3.392	0.091	0.045	-0.791	3.733	0.012	0.000979437885762	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271311452	1.026e-05	1.026e-05	8.167e-06	1.238e-05	7.194e-06	6.16e-06	4.89e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	0.0001	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.387	0.10945	T	1.0	0.01155	T	0.129	0.33330	B	0.079	0.29395	B	.	.	.	.	0.999134	0.21587	N	0.325	0.10370	N	2.66	0.12575	T	-0.1	0.08495	N	0.073	0.04668	-0.9780	0.35458	T	0.010	0.03856	T	9	0.04801321	0.04194	T	9.79E-4	0.01026	T	0.012	0.01476	0.425	0.47021	0.206339911435	0.20273	0.006781917739386643	0.00645	0.0211170378769	0.02089	0.378298938274	0.22014	T	0.001409	0.00874	T	-0.265819	0.12227	T	-0.619607	0.11216	T	0.093671787738584	0.11647	T	0.368163	0.10783	T	0.024969794	0.01384	0.03207186	0.01886	0.024969794	0.01384	0.03207186	0.01886	-3.975	0.27040	T	.	.	0.343	0.56078	A	.;.;.	.;.;.	0.121630	0.05188	1.704	0.76453344966059789	0.11474	0.00186	0.01083	N	AEFBHCI	0.028090	0.02410	N	-1.21715616607609	0.04751	0.2150762	-1.24231820359867	0.05246	0.2494891	0.0599830717582301	0.15181	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.13	0.091	0.13774	-0.397000	0.07329	-20.000000	0.00162	0.578000	0.29377	0.000000	0.06391	0.000000	0.08366	0.132000	0.19645	0.0:0.4951:0.0:0.5049	3.733	0.08028	819	0.41190	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1881.98	62	chr16	89227697	.	C	T	1881.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.740e-01;DP=1910;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.55;ReadPosRankSum=-1.479e+00;SOR=0.657	GT:AD:DP:GQ:PL	0/1:56,65:121:99:1896,0,1656	20	0	1	0
chr16	89769951	89769951	G	A	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon26:c.C2390T:p.A797V	Fanconi anemia, complementation group A, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	530421	Fanconi_anemia|Fanconi_anemia_complementation_group_A|not_provided|not_specified	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.55	T	0.002	B	0.001	B	0.261	N	1.000	N	0	N	-1.82	D	-0.737	T	0.285	T	0.041	0.919	8.743	-9.26	-2.861	-1.413	12.127	0.168	0.0352855611351	0.0003	0.000199681	0.0004	0.0006	8.678e-05	0	0	0.0005	0.0011	0.0002	0.0003105	48	154602	rs138248569	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0003	0.0002	0.0002	8.944e-05	3.826e-05	0	1.877e-05	0.0009	0.0002	0.0003	0.0001	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	0.0002	0	0.0002	0	0.0002	0	0	0.0004	0	0	0.537	0.06869	T	0.534	0.09965	T	0.001	0.07471	B	0.001	0.04355	B	0.261112	0.03709	N	1.536950	1	0.08975	N	-0.365	0.03101	N	-1.82	0.84047	D	0.12	0.05604	N	0.029	0.00666	-0.7371	0.58601	T	0.285	0.65724	T	10	0.026365042	0.00805	T	0.035286	0.56245	D	0.168	0.42943	.	.	0.7014751448	0.69889	0.07588697924729894	0.07524	.	.	0.329142212868	0.14805	T	0.068997	0.33598	T	-0.470256	0.00847	T	-0.597111	0.13054	T	0.00241497756322022	0.00025	T	0.542346	0.19192	T	0.01032362	0.00007	0.025166135	0.00552	0.009292143	0.00002	0.024710225	0.00495	-3.754	0.20342	T	0.10835342799951482	0.08924	0.064	0.01668	B	.;.	.;.	-1.040168	0.00715	0.021	0.68435054147734564	0.08657	0.00674	0.02901	N	AEFDBI	0.031507	0.03385	N	-1.76087640924679	0.00648	0.02796099	-1.84408196287035	0.00628	0.02791774	0.999998964789265	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.63	-9.26	0.00563	-1.329000	0.02784	-5.076000	0.01859	-0.659000	0.04360	0.000000	0.06391	0.000000	0.08366	0.091000	0.17840	0.745:0.0:0.1636:0.0913	12.127	0.53225	671	0.60868	.;.	.	.	.	.	.	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	1786.11	40	chr16	89769951	.	G	A	1786.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.596;DP=906;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=0.453;SOR=0.693	GT:AD:DP:GQ:PL	0/1:37,33:70:99:800,0,1061	19	0	2	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	0/2:7,0,44:51:99:.:.:1194,1221,1501,0,280,138	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	0/2:7,0,44:51:99:.:.:1194,1221,1501,0,280,138	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	0/2:7,0,44:51:99:.:.:1194,1221,1501,0,280,138	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	0/2:7,0,44:51:99:.:.:1194,1221,1501,0,280,138	10	0	5	3
chr17	1647905	1647905	C	G	exonic	RILP	.	nonsynonymous SNV	RILP:NM_031430:exon6:c.G874C:p.V292L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.116	B	0.085	B	0.083	N	0.951	N	-1.1	N	1.07	T	-1.050	T	0.031	T	0.11	2.141	13.11	2.11	1.348	0.405	3.570	0.030	0.00987376495113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.0100	0.0014	0.0012	0.0015	0.0012	0.0012	0.0015	0.0015	0.0014	2.24e-05	0.0005	0.0003	1.874e-05	0.0011	0.0015	0.0010	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.14595	T	0.55	0.09425	T	0.116	0.26475	B	0.085	0.29395	B	0.083488	0.20750	N	0.387462	0.95094	0.26488	N	-1.1	0.00987	N	1.07	0.39586	T	-0.54	0.16598	N	0.245	0.27673	-1.0503	0.14313	T	0.031	0.13242	T	10	0.044	0.03309	T	0.009874	0.25720	T	0.030	0.07022	0.317	0.29419	0.257292322809	0.25322	0.11513722298772343	0.11441	0.318795421449	0.34097	0.524286329746	0.42231	T	0.017718	0.19622	T	-0.276491	0.11042	T	-0.634936	0.10042	T	0.142954185605049	0.16526	T	.	.	.	0.15651605	0.35316	0.08314217	0.19031	0.15651605	0.35316	0.08314217	0.19031	-6.89	0.53225	T	.	.	0.376	0.58197	A	.;.	.;.	1.831265	0.23269	15.95	0.95547807555078723	0.27204	0.28308	0.23518	N	AEFGBCI	0.346792	0.44149	N	-0.783625873739068	0.13736	0.6788855	-0.585675622963951	0.19866	1.067815	0.999939707880972	0.46732	0.609539	0.35627	0	0.653731	0.59785	0	0.493711	0.08198	1	0.526803	0.08958	0	.	.	5.6	2.11	0.26299	0.459000	0.21619	1.653000	0.27856	-0.217000	0.08171	0.504000	0.26986	0.986000	0.30841	0.959000	0.51448	0.2311:0.3333:0.3527:0.083	3.570	0.07463	562	0.71143	Rab interacting lysosomal protein, dimerization domain|RH2 domain;Rab interacting lysosomal protein, dimerization domain|RH2 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	0.02381	46.98	33	chr17	1647905	.	C	G	46.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.806e+00;DP=868;ExcessHet=0.0000;FS=39.920;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.34;ReadPosRankSum=0.544;SOR=4.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,22:140:61:0|1:1647903_C_G:61,0,4453:1647903	20	0	1	0
chr17	1647906	1647906	C	G	exonic	RILP	.	nonsynonymous SNV	RILP:NM_031430:exon6:c.G873C:p.K291N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.99	D	0.001	D	0.976	D	1.355	L	0.92	T	-0.901	T	0.156	T	0.252	4.089	21.0	-1.27	-0.152	0.198	9.951	0.086	0.0289360152988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.078e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.006	0.70582	D	1.0	0.90584	D	0.99	0.78936	D	0.000543	0.43413	D	0.162786	0.976149	0.39250	D	1.59	0.40313	L	0.92	0.44461	T	-2.56	0.55339	D	0.587	0.60749	-0.9014	0.47846	T	0.156	0.48824	T	10	0.25977266	0.43419	T	0.028936	0.51534	D	0.086	0.25016	0.354	0.35408	0.646241729955	0.64331	0.2498322894567886	0.24897	1.06520644226	0.76608	0.690993785858	0.65850	T	0.083056	0.43985	T	-0.180528	0.23658	T	-0.497093	0.22650	T	0.961237609386444	0.66026	D	.	.	.	0.70810723	0.78503	0.49808714	0.70979	0.70810723	0.78504	0.49808714	0.70979	-9.155	0.68689	D	.	.	0.899	0.82708	P	.;.	.;.	3.385453	0.46848	22.4	0.99751572839584457	0.84305	0.45983	0.27659	N	AEFGBCI	0.353022	0.44558	N	-0.113164898256729	0.36820	2.133435	-0.220986961082395	0.30785	1.736349	0.999917096028196	0.45857	0.609539	0.35627	0	0.653731	0.59785	0	0.493711	0.08198	1	0.526803	0.08958	0	.	.	5.6	-1.27	0.08863	0.076000	0.14570	0.031000	0.13732	-0.202000	0.08738	0.506000	0.27002	0.847000	0.27355	0.955000	0.50612	0.0:0.592:0.0:0.408	9.951	0.40810	562	0.71143	Rab interacting lysosomal protein, dimerization domain|RH2 domain;Rab interacting lysosomal protein, dimerization domain|RH2 domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	52.98	59	chr17	1647906	.	C	G	52.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.633e+00;DP=959;ExcessHet=0.0000;FS=52.483;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=1.24;SOR=5.131	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,9:127:67:0|1:1647903_C_G:67,0,4410:1647903	20	0	1	0
chr17	3448977	3448977	G	A	exonic	SPATA22	.	nonsynonymous SNV	SPATA22:NM_001170696:exon5:c.C373T:p.R125C	.	.	431	1083	8	0	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.955	P	0.365	B	0.986	N	1.000	N	0	N	2.21	T	-1.029	T	0.029	T	0.4	-0.133	3.351	2.47	0.532	0.625	8.659	0.087	.	.	0.00898562	0.0044	0	0.0004	0.0001	0	2.997e-05	0.0011	0.0316	0.0038615	597	154602	rs200796816	0.0020	0.0020	0.0012	0.0028	0.0310	0.0019	0.0019	0.0300	0.0296	5.974e-05	0.0011	0	0	0	0.0007	3.148e-05	0.0021	0.0310	0.0013	0.0014	0.0007	0.0020	0.0328	0.0012	0.0011	0.0286	0.0270	0	0	0.0027	0	0	0	0	2.941e-05	0.0014	0.0328	0.183	0.25768	T	0.117	0.41742	T	0.0	0.54515	B	0.0	0.43339	B	0.985855	0.08064	N	0.991602	1	0.08975	N	0.69	0.16971	N	2.16	0.19166	T	-2.64	0.60827	D	0.096	0.11340	-1.0292	0.20713	T	0.029	0.12541	T	10	0.0033317804	0.00058	T	.	.	.	0.087	0.25287	.	.	0.0482279557977	0.04254	0.15362079192647216	0.15284	0.0307955421542	0.03189	0.180036693811	0.00094	T	0.043149	0.35818	T	-0.52599	0.00406	T	-0.505327	0.21796	T	0.0228706497232127	0.01009	T	0.417158	0.18022	T	0.08193214	0.18851	0.081513114	0.18531	0.08193214	0.18851	0.081513114	0.18530	-4.607	0.32720	T	0.4200619553649225	0.50897	0.074	0.08368	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.983925	0.25203	16.68	0.61445414317425828	0.06711	0.41834	0.26745	N	AEFI	0.174116	0.30123	N	-0.682582019221086	0.16519	0.8422961	-0.651266273426691	0.18185	0.9703216	3.01328354365844E-4	0.06454	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.67	2.47	0.29113	0.733000	0.25754	0.386000	0.17834	0.676000	0.76740	0.971000	0.34370	0.615000	0.25787	0.063000	0.16184	0.0:0.2313:0.6142:0.1545	8.659	0.33241	799	0.44747	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2056.98	33	chr17	3448977	.	G	A	2056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.152;DP=1253;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=1.84;SOR=0.684	GT:AD:DP:GQ:PL	0/1:80,84:164:99:2071,0,1882	20	0	1	0
chr17	3723303	3723303	C	G	exonic	ITGAE	.	nonsynonymous SNV	ITGAE:NM_002208:exon28:c.G3222C:p.W1074C,	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.013	B	0.003	B	.	.	1.000	N	0	N	0.99	T	-1.031	T	0.053	T	0.091	1.093	9.461	1.86	0.604	0.403	6.577	0.117	0.00577457878949	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049208328	4.798e-06	5.473e-06	2.729e-06	6.888e-06	6.311e-06	2e-06	1.28e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.311e-06	0	0	1.314e-05	1.313e-05	0	2.69e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.007	0.59928	D	0.004	0.74150	D	0.013	0.16609	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.99	0.41750	T	-0.98	0.25986	N	0.197	0.21710	-1.0314	0.20002	T	0.053	0.22307	T	9	0.11523497	0.21704	T	0.005775	0.14982	T	0.117	0.32689	0.589	0.71749	0.399596177874	0.39575	0.4697385648979141	0.46892	0.246790638485	0.27215	0.2645586133	0.05446	T	0.086543	0.37747	T	-0.295443	0.09096	T	-0.66216	0.08121	T	0.131037495577844	0.15478	T	0.308669	0.05963	T	0.10798251	0.25533	0.06814998	0.14193	0.10798251	0.25533	0.06814998	0.14193	-5.81	0.44661	T	.	.	0.356	0.56971	A	.	.	2.074899	0.26388	17.10	0.79534517268784033	0.12785	0.06072	0.12044	N	AEFDGBCI	0.084255	0.17075	N	-0.952329744523402	0.09640	0.4571452	-0.963081844887274	0.10621	0.5360854	0.999988317612635	0.51787	0.542737	0.22433	0	0.685571	0.66316	0	0.64067	0.45733	0	0.665054	0.64577	0	.	.	3.89	1.86	0.24489	0.178000	0.16634	1.823000	0.29055	0.596000	0.33519	0.000000	0.06391	0.196000	0.23534	0.001000	0.02609	0.2068:0.5932:0.2:0.0	6.577	0.21766	656	0.62345	.	.	.	.	.	.	Uncertain significance	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	1645.98	35	chr17	3723303	.	C	G	1645.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.192e+00;DP=853;ExcessHet=0.0000;FS=2.281;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=0.404;SOR=0.488	GT:AD:DP:GQ:PL	0/1:57,75:132:99:1660,0,1448	20	0	1	0
chr17	4891691	4891691	G	A	exonic	MINK1	.	nonsynonymous SNV	MINK1:NM_001024937:exon16:c.G1916A:p.R639H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.98	D	0.586	P	0.000	D	0.938	D	1.65	L	0.98	T	-0.927	T	0.068	T	0.376	4.739	26.5	4.06	1.351	5.145	10.973	0.117	.	0.0002	0.00419329	0.0029	0.0004	0	0.0391	0	5.175e-05	0	0	0.0015912	246	154602	rs146578027	0.0007	0.0008	0.0008	0.0007	0.0254	0.0007	0.0007	0.0241	0.0236	6.006e-05	0	0	0.0254	0	0.0002	4.516e-05	0.0004	4.743e-05	0.0008	0.0008	0.0008	0.0008	0.0220	0.0007	0.0006	0.0187	0.0175	0	0	6.532e-05	0	0.0220	0	0	2.941e-05	0.0005	0	0.001	0.78490	D	0.096	0.53788	T	0.967	0.59353	D	0.382	0.50343	B	0.000008	0.62929	D	0.066050	0.938287	0.37220	D	1.935	0.51832	L	0.98	0.42122	T	-3.2	0.67014	D	0.389	0.44283	-0.9269	0.44588	T	0.068	0.28047	T	10	0.005124986	0.00111	T	.	.	.	0.117	0.32689	.	.	0.481242225458	0.47752	0.3654175392797413	0.36455	0.631458013218	0.57104	0.599954366684	0.52897	T	0.308843	0.68091	T	-0.414757	0.01849	T	-0.346234	0.39636	T	0.0866891922846921	0.10821	T	0.941106	0.79334	D	0.24080212	0.46988	0.3011381	0.56146	0.24080212	0.46988	0.3011381	0.56145	-3.942	0.29625	T	.	.	0.151	0.33504	B	.;.;.	.;.;.	4.736414	0.76341	26.5	0.99942386616050749	0.99824	0.94788	0.62331	D	AEFDBHCI	0.652803	0.62606	D	0.406493152112954	0.61779	4.383682	0.409517496872003	0.62156	4.426513	0.999896888240931	0.45129	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.02	4.06	0.46572	3.738000	0.54788	7.475000	0.59195	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0906:0.0:0.9094:0.0	10.973	0.46662	248	0.90287	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1004.98	34	chr17	4891691	.	G	A	1004.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.682e+00;DP=797;ExcessHet=0.0000;FS=0.853;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.96;ReadPosRankSum=-9.980e-01;SOR=0.538	GT:AD:DP:GQ:PL	0/1:43,41:84:99:1019,0,1161	20	0	1	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	36673.09	217	chr17	4933907	.	ACCACCCCAGAGCCCAC	A,*	36673.09	.	AC=11,22;AF=0.262,0.524;AN=42;BaseQRankSum=-2.218e+00;DP=3857;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0101;MLEAC=11,22;MLEAF=0.262,0.524;MQ=59.64;MQRankSum=0.207;QD=13.33;ReadPosRankSum=0.579;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:3,0,104:107:99:.:.:3801,3809,3847,301,338,0	1	2	3	0
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	3830.01	217	chr17	4933915	.	A	*,G	3830.01	.	AC=30,4;AF=0.750,0.100;AN=40;BaseQRankSum=1.91;DP=3710;ExcessHet=0.5418;FS=1.062;InbreedingCoeff=-0.0551;MLEAC=31,4;MLEAF=0.775,0.100;MQ=59.65;MQRankSum=0.00;QD=1.56;ReadPosRankSum=0.309;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:3,104,0:107:99:.:.:3801,301,0,3809,338,3847	0	10	6	1
chr17	6590544	6590544	C	T	exonic	KIAA0753	.	nonsynonymous SNV	KIAA0753:NM_001351225:exon17:c.G1630A:p.V544M	.	.	.	.	.	.	.	.	.	.	.	1961848	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.981	D	0.783	P	0.040	N	1.000	N	2.075	M	0.93	T	-0.923	T	0.174	T	0.264	1.425	10.70	3.21	0.698	0.314	9.861	0.093	0.0103978755771	8.3e-05	.	3.314e-05	0.0001	0	0	0	1.499e-05	0	0.0001	2.59e-05	4	154602	rs376343290	8.21e-06	8.209e-06	8.168e-06	8.252e-06	0.0002	4.38e-06	3.46e-06	1.583e-05	9.3e-06	2.988e-05	0	0	0	0	0.0002	4.497e-06	1.656e-05	4.638e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	7.239e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.239e-05	0	0	0	0	0	0	0	0	0	0.009	0.57480	D	0.0	0.92824	D	0.981	0.59675	D	0.783	0.57419	P	0.040281	0.24075	N	0.442842	0.999627	0.20843	N	.	.	.	0.93	0.44065	T	-0.99	0.26200	N	0.101	0.08366	-0.9227	0.45182	T	0.174	0.51690	T	10	0.17352661	0.32183	T	0.010398	0.26893	T	0.093	0.26882	.	.	0.297375071883	0.29337	0.47081081895433063	0.47000	0.0964755797854	0.10890	0.378869980574	0.22096	T	0.014566	0.12376	T	-0.3071	0.08006	T	-0.497377	0.22621	T	0.613344728946686	0.36935	D	0.814119	0.46793	T	0.055408165	0.10765	0.079614416	0.17939	0.055408165	0.10765	0.079614416	0.17939	-5.476	0.41643	T	.	.	0.128	0.27161	B	.;.;.	.;.;.	1.521018	0.19527	14.31	0.99330932771664859	0.59777	0.12173	0.17105	N	AEFGBI	0.047362	0.07968	N	-0.0783285075147447	0.38344	2.244322	-0.259999864365604	0.29429	1.648643	0.999991520298799	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.19	3.21	0.35933	0.525000	0.22664	0.789000	0.21551	0.599000	0.40250	0.012000	0.18695	0.524000	0.25326	0.355000	0.25773	0.0:0.8315:0.0:0.1685	9.861	0.40283	845	0.36510	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	764.98	33	chr17	6590544	.	C	T	764.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.981;DP=768;ExcessHet=0.0000;FS=0.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.33;ReadPosRankSum=0.634;SOR=0.648	GT:AD:DP:GQ:PL	0/1:49,33:82:99:779,0,1187	20	0	1	0
chr17	7038155	7038155	C	G	exonic	SLC16A13	.	nonsynonymous SNV	SLC16A13:NM_201566:exon3:c.C347G:p.S116C,	.	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.98	D	0.91	D	0.000	D	0.820	N	1.4	L	3.24	T	-1.122	T	0.036	T	0.224	3.148	16.53	3.25	1.255	2.439	7.170	0.068	0.00371815578664	.	.	1.698e-05	0	0	0	0	3.045e-05	0	0	1.29e-05	2	154602	rs756758847	1.166e-05	1.163e-05	8.185e-06	1.517e-05	0.0002	7.1e-06	5.81e-06	5.76e-06	4.55e-06	0	0	0	0	0	0.0002	1.081e-05	4.979e-05	1.162e-05	1.971e-05	1.97e-05	1.284e-05	2.689e-05	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.085	0.32769	T	0.054	0.47097	T	0.98	0.59353	D	0.91	0.64641	D	0.000047	0.53742	D	0.076020	0.820001	0.28894	N	0.42	0.12520	N	3.24	0.06845	T	-0.32	0.12283	N	0.247	0.27910	-1.1223	0.02191	T	0.036	0.15509	T	10	0.39960474	0.55473	T	0.003718	0.08620	T	0.068	0.19811	.	.	0.126345400529	0.12197	0.3809918356218819	0.38014	0.271436993991	0.29665	0.377611756325	0.21916	T	0.112812	0.42937	T	-0.302659	0.08411	T	-0.571895	0.15277	T	0.231601014733315	0.22027	T	0.562644	0.19782	T	0.0756289	0.17052	0.061026096	0.11717	0.0756289	0.17051	0.061026096	0.11716	-2.977	0.09935	T	.	.	0.059	0.00806	B	.	.	2.863009	0.37831	20.6	0.97801956853358241	0.36071	0.73850	0.36122	D	AEFDBHCI	0.517662	0.54369	D	0.3673355927677	0.59661	4.147368	0.354115117648791	0.58756	4.048141	0.999999452328119	0.74766	0.722319	0.85440	0	0.627608	0.54475	0	0.691665	0.62940	0	0.735409	0.98432	0	.	.	5.39	3.25	0.36363	2.637000	0.46219	3.436000	0.38348	-0.217000	0.08171	0.986000	0.36153	1.000000	0.68203	0.885000	0.42453	0.0:0.5759:0.3356:0.0884	7.170	0.24891	754	0.51307	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	937.98	34	chr17	7038155	.	C	G	937.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.13;ReadPosRankSum=0.345;SOR=0.852	GT:AD:DP:GQ:PL	0/1:31,31:62:99:952,0,938	20	0	1	0
chr17	7572858	7572858	A	G	exonic	EIF4A1	.	nonsynonymous SNV	EIF4A1:NM_001204510:exon1:c.A17G:p.D6G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.054	B	0.024	B	.	.	1.000	D	0.895	L	1.76	T	-1.100	T	0.047	T	0.688	3.282	17.02	4.86	2.029	4.234	10.757	0.137	0.0134953056642	.	.	.	.	.	.	.	.	.	.	.	.	.	rs950953435	6.841e-06	6.84e-06	5.445e-06	8.251e-06	2.519e-05	3.46e-06	2.52e-06	2.62e-06	1.68e-06	0	0	0	2.519e-05	0	0	6.295e-06	3.312e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.411e-05	2.18e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0	1.47e-05	0	0	0.016	0.51853	D	0.096	0.67890	T	0.054	0.22658	B	0.021	0.19346	B	.	.	.	.	0.986904	0.81001	D	1.905	0.50856	L	3.5	0.25996	T	-0.74	0.20791	N	0.556	0.58117	-1.0996	0.04140	T	0.047	0.20116	T	9	0.24532759	0.41778	T	0.013495	0.32933	T	0.137	0.36984	.	.	0.70258580727	0.70000	0.6484989586206028	0.64785	5.55450975E-4	0.00054	.	.	.	0.190895	0.54557	T	0.0242089	0.54948	T	-0.203002	0.54361	T	0.897387981414795	0.54928	D	0.90231	0.66829	D	0.30487674	0.53339	0.4584474	0.68534	0.30487674	0.53339	0.4584474	0.68535	-3.013	0.11504	T	.	.	0.157	0.42948	B	.;.;.;.;.;.	.;.;.;.;.;.	5.387243	0.90267	31	0.95331059525212258	0.26690	0.98666	0.85331	D	AEFGBHCIJ	0.816363	0.73811	D	-0.0628425921451657	0.39030	2.295254	0.112650936602488	0.45193	2.786976	0.999999999999191	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.86	4.86	0.62624	4.231000	0.58439	11.062000	0.85454	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	10.757	0.45440	460	0.78750	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	1322.98	33	chr17	7572858	.	A	G	1322.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.275e+00;DP=792;ExcessHet=0.0000;FS=5.119;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=0.216;SOR=0.632	GT:AD:DP:GQ:PL	0/1:40,56:96:99:1337,0,958	20	0	1	0
chr17	7768033	7768033	G	A	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon23:c.G3809A:p.R1270H,	.	.	430	1071	21	0	0	21	0.00970874	.	.	3208312	DNAH2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.08	T	0.995	D	0.909	D	0.002	N	1.000	D	1.92	M	0.11	T	-0.472	T	0.254	T	0.475	3.875	19.69	4.27	1.929	2.251	15.463	0.356	.	0.0013	0.00319489	0.0051	9.634e-05	0.0003	0.0001	0.0166	0.0030	0.0121	0.0173	0.0043855	678	154602	rs141149043	0.0029	0.0029	0.0024	0.0034	0.0185	0.0028	0.0028	0.0178	0.0175	0.0003	0.0007	0.0097	7.557e-05	0.0119	0.0076	0.0013	0.0033	0.0185	0.0028	0.0028	0.0020	0.0036	0.0178	0.0026	0.0025	0.0148	0.0137	0.0002	0	0.0010	0.0058	0.0002	0.0139	0	0.0021	0.0024	0.0178	0.009	0.57480	D	.	.	.	0.995	0.67487	D	0.909	0.64565	D	0.001517	0.38793	N	0.160409	0.994347	0.42247	D	2.215	0.62545	M	0.11	0.61208	T	-3.17	0.64363	D	0.481	0.51583	-0.4725	0.69637	T	0.254	0.62417	T	10	0.014341354	0.00302	T	.	.	.	0.356	0.67691	.	.	0.620183206235	0.61710	0.3107758234507111	0.30990	1.02590431471	0.75273	0.471004635096	0.34819	T	0.374196	0.73804	T	-0.357406	0.04279	T	-0.271229	0.47694	T	0.0492212625266031	0.05363	T	0.843016	0.51993	T	0.32281244	0.54876	0.2963498	0.55667	0.32281244	0.54876	0.2963498	0.55666	-5.303	0.39973	T	.	.	0.102	0.17911	B	.;.	.;.	4.797356	0.77915	26.8	0.99954289304848509	0.99963	0.72654	0.35554	D	AEFGBI	0.148482	0.27238	N	0.475716336435347	0.65675	4.852478	0.429223987255424	0.63391	4.572144	3.60856463058229E-4	0.06668	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.27	4.27	0.50009	2.811000	0.47685	7.577000	0.60860	0.618000	0.50648	0.989000	0.36753	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	15.463	0.75106	230	0.91032	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4211.11	33	chr17	7768033	.	G	A	4211.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.618;DP=994;ExcessHet=0.1072;FS=2.913;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=2.45;SOR=0.602	GT:AD:DP:GQ:PL	0/1:76,81:157:99:1951,0,1732	19	0	2	0
chr17	7780180	7780180	C	T	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon37:c.C5746T:p.P1916S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.32	H	2.43	T	-0.213	T	0.243	T	0.94	5.068	31	5.35	2.785	7.486	17.993	0.583	0.0186367061826	.	.	8.238e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs778705349	6.842e-06	6.84e-06	2.723e-06	1.1e-05	0.0002	3.46e-06	2.52e-06	7.43e-06	2.78e-06	0	4.483e-05	0	0	0	0.0002	4.497e-06	1.656e-05	1.16e-05	6.571e-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	0.0	0.91255	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.3	0.98261	H	2.43	0.15261	T	-7.88	0.96142	D	0.892	0.89131	-0.2131	0.77333	T	0.243	0.61142	T	10	0.7943549	0.78937	D	0.018637	0.40769	T	0.583	0.83249	0.442	0.49811	0.442261297928	0.43845	0.8946798032053074	0.89438	0.956921499825	0.72854	0.692947506905	0.66129	T	0.282496	0.65524	T	0.176265	0.71699	D	0.116046	0.77972	D	0.999562561511993	0.97934	D	0.999243	0.99707	D	0.92077696	0.93323	0.83970267	0.90818	0.92077696	0.93324	0.83970267	0.90819	-10.075	0.74360	D	.	.	0.873	0.81035	P	.;.	.;.	4.897331	0.80455	27.3	0.99923468511293612	0.98917	0.99538	0.97210	D	AEFBI	0.880348	0.80693	D	1.08294850344944	0.97805	16.80187	0.976275222050339	0.98113	17.459	0.999999994445811	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.35	5.35	0.76297	7.631000	0.82408	7.704000	0.66446	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0:1.0:0.0:0.0	17.993	0.89097	249	0.90233	Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1|AAA+ ATPase domain;Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1|AAA+ ATPase 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	964.98	38	chr17	7780180	.	C	T	964.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.412e+00;DP=799;ExcessHet=0.0000;FS=1.623;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.28;ReadPosRankSum=0.952;SOR=0.498	GT:AD:DP:GQ:PL	0/1:59,45:104:99:979,0,1502	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	1/2:0,28,25,0,0,0:53:99:2455,994,853,1132,0,1001,2298,979,1116,2237,2298,979,1116,2237,2237,2298,979,1116,2237,2237,2237	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	1/2:0,28,25,0,0,0:53:99:2455,994,853,1132,0,1001,2298,979,1116,2237,2298,979,1116,2237,2237,2298,979,1116,2237,2237,2237	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	1/2:0,28,25,0,0,0:53:99:2455,994,853,1132,0,1001,2298,979,1116,2237,2298,979,1116,2237,2237,2298,979,1116,2237,2237,2237	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	1/2:0,28,25,0,0,0:53:99:2455,994,853,1132,0,1001,2298,979,1116,2237,2298,979,1116,2237,2237,2298,979,1116,2237,2237,2237	0	14	0	0
chr17	8340278	8340278	T	C	exonic	ODF4	.	nonsynonymous SNV	ODF4:NM_153007:exon1:c.T227C:p.F76S,	.	.	416	1105	0	1	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	0.364	N	1.000	N	-0.425	N	2.07	T	-0.953	T	0.018	T	0.101	0.916	8.730	0.381	0.248	0.089	6.254	0.020	0.00150313906657	.	.	8.385e-06	0	0	0	0	1.522e-05	0	0	6.5e-06	1	154602	rs766346066	4.789e-06	4.788e-06	4.084e-06	5.501e-06	5.396e-06	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	1.656e-05	0	1.971e-05	1.97e-05	1.285e-05	2.69e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.794	0.03167	T	0.658	0.06554	T	0.0	0.02946	B	0.0	0.01387	B	0.363907	0.13628	N	0.647824	1	0.08975	N	-0.94	0.01278	N	2.07	0.20387	T	2.68	0.00194	N	0.061	0.03283	-0.9528	0.40485	T	0.018	0.07234	T	10	0.02864191	0.00995	T	0.001503	0.02318	T	0.020	0.03691	0.302	0.27003	0.0401082797425	0.02173	0.023553536672939558	0.02307	0.308903704434	0.33204	0.308041810989	0.11611	T	9.9E-4	0.00532	T	-0.342497	0.05217	T	-0.72975	0.04339	T	0.0466864900164755	0.04907	T	0.258174	0.04088	T	0.04618767	0.07687	0.05065323	0.07992	0.04618767	0.07687	0.05065323	0.07992	-2.76	0.07821	T	.	.	0.144	0.31832	B	.	.	0.625341	0.09937	6.695	0.86170613007415486	0.16359	0.00214	0.01215	N	AEFDBI	0.021902	0.01031	N	-1.33820806032405	0.03249	0.1447956	-1.29903709797049	0.04444	0.2096357	1.17852596890278E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.89	0.381	0.15451	0.099000	0.15047	-0.023000	0.12899	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.0:0.5265:0.0:0.4735	6.254	0.20073	288	0.88579	.	.	.	.	.	.	Uncertain significance	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	1545.98	33	chr17	8340278	.	T	C	1545.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.310;DP=1668;ExcessHet=0.0000;FS=1.429;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=0.065;SOR=0.846	GT:AD:DP:GQ:PL	0/1:64,60:124:99:1560,0,1690	20	0	1	0
chr17	10447996	10447996	-	T	exonic	MYH4	.	frameshift insertion	MYH4:NM_017533:exon34:c.4786dupA:p.R1596Kfs*13,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.841e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	5137.94	34	chr17	10447996	.	C	CT	5137.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.290e-01;DP=994;ExcessHet=0.0000;FS=6.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.63;ReadPosRankSum=0.721;SOR=0.436	GT:AD:DP:GQ:PL	0/1:146,163:309:99:5152,0,4550	20	0	1	0
chr17	16001925	16001925	T	C	exonic	TTC19	.	startloss	TTC19:NM_001271420:exon3:c.T2C:p.M1?	Mitochondrial complex III deficiency, nuclear type 2, Autosomal recessive	.	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	.	.	.	.	0.001	D	0.992	D	1.7	L	-0.96	T	-0.496	T	0.377	T	0.843	2.533	14.43	5.7	2.322	4.274	12.720	0.436	0.0424067847749	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1390885250	1.164e-05	1.163e-05	1.636e-05	6.883e-06	7.559e-05	7.09e-06	5.8e-06	2.004e-05	1.055e-05	0	0	0	7.559e-05	0	0	9.902e-06	1.657e-05	2.319e-05	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.181	0.21884	T	0.011	0.64786	D	.	.	.	.	.	.	0.000595	0.43095	D	0.263481	0.991755	0.41466	D	2.095	0.58118	M	-0.96	0.75553	T	-2.2	0.49519	N	0.747	0.74644	-0.4963	0.68783	T	0.377	0.73438	T	8	0.628175	0.68363	D	0.042407	0.60446	D	0.436	0.74093	.	.	0.784306369956	0.78230	0.5682160448360645	0.56749	0.254964693077	0.28073	0.833218812943	0.87056	D	0.017123	0.14025	T	0.242749	0.77920	D	0.126402	0.78657	D	0.278541069693166	0.24110	T	0.559944	0.19565	T	0.19328192	0.41031	0.23505877	0.48740	0.19328192	0.41031	0.23505877	0.48738	-9.124	0.68491	D	0.3805121613512695	0.47499	0.732	0.74304	P	.	.	3.983286	0.58568	24.0	0.95629701375562337	0.27411	0.89088	0.49347	D	AEFBHCI	0.549073	0.56210	D	0.285381908399778	0.55407	3.70478	0.381406562866025	0.60420	4.229267	0.999999985948046	0.74766	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.7	5.7	0.88690	4.291000	0.58817	7.929000	0.74923	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	12.720	0.56507	233	0.90919	.	.	.	.	.	.	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	1040.98	37	chr17	16001925	.	T	C	1040.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.964e+00;DP=841;ExcessHet=0.0000;FS=4.169;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=0.041;SOR=1.162	GT:AD:DP:GQ:PL	0/1:39,44:83:99:1055,0,1043	20	0	1	0
chr17	16353372	16353372	G	C	exonic	CENPV	.	nonsynonymous SNV	CENPV:NM_181716:exon1:c.C65G:p.A22G,	.	.	493	451	356	217	5	795	0.466903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.002	B	0.018	N	0.995	P	.	.	.	.	-1.045	T	0.000	T	0.13	-0.711	0.937	-5.31	-0.962	-0.654	7.385	0.005	0.0196258658988	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs149829221	7.149e-05	0.0003	7.417e-05	6.858e-05	0.0004	5.819e-05	5.381e-05	9.822e-05	5.577e-05	0	0.0004	0	0.0002	0	0	7.546e-05	2.353e-05	0	0.0001	0.0002	0.0002	0.0001	0.0004	9.954e-05	8.437e-05	0.0001	9.132e-05	7.305e-05	0	6.661e-05	0	0.0004	0.0001	0.0034	0.0002	0	0.0002	0.561	0.06361	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.018135	0.01481	N	4.295950	1	0.23375	P	.	.	.	.	.	.	0.16	0.05217	N	0.077	0.05162	-1.0452	0.15767	T	0.000	0.00011	T	7	0.019916922	0.00451	T	0.019626	0.42042	T	0.005	0.00259	.	.	0.0884992946249	0.08302	0.0786799102888714	0.07802	1.08031386052	0.77120	0.761266052723	0.76117	T	.	.	.	-0.513494	0.00480	T	-0.57513	0.14982	T	0.0382244026170994	0.03372	T	0.321768	0.06536	T	.	.	.	.	.	.	.	.	-4.474	0.30547	T	.	.	0.062	0.01367	B	.	.	0.600789	0.09695	6.463	0.46967313541535144	0.03803	0.01035	0.03875	N	AEFDGBHCI	0.040505	0.06034	N	-1.72508104807624	0.00756	0.03267343	-1.84943526281674	0.00613	0.02726113	0.99999999998593	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	2.66	-5.31	0.02519	0.072000	0.14482	-2.522000	0.03652	0.272000	0.18543	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.3102:0.4876:0.2022	7.385	0.26048	688	0.59122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	6610.61	16	chr17	16353372	.	G	GCGGAGGCCC,C	6610.61	.	AC=23,1;AF=0.548,0.024;AN=42;BaseQRankSum=0.00;DP=327;ExcessHet=0.2438;FS=3.230;InbreedingCoeff=0.2106;MLEAC=23,1;MLEAF=0.548,0.024;MQ=60.00;MQRankSum=0.00;QD=28.25;ReadPosRankSum=0.231;SOR=0.929	GT:AD:DP:GQ:PL	0/1:4,3,0:7:99:114,0,159,126,168,294	5	7	8	0
chr17	17793782	17793782	-	CAG	exonic	RAI1	.	nonframeshift insertion	RAI1:NM_030665:exon3:c.834_835insCAG:p.Q291_A292insQ,	Smith-Magenis syndrome, Autosomal dominant, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8476.07	194	chr17	17793779	.	CCAG	C,CCAGCAG	8476.07	.	AC=7,2;AF=0.167,0.048;AN=42;BaseQRankSum=0.190;DP=4672;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.3035;MLEAC=7,2;MLEAF=0.167,0.048;MQ=60.00;MQRankSum=0.00;QD=4.69;ReadPosRankSum=0.870;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:157,0,84:243:99:.:.:2026,2663,9269,0,6098,5819	12	0	7	0
chr17	18124520	18124520	G	A	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon3:c.G3647A:p.R1216H,	Deafness, autosomal recessive 3, Autosomal recessive	.	0	1513	5	4	0	13	0.00427772	.	.	486171	Autosomal_recessive_nonsyndromic_hearing_loss_3|not_provided|MYO15A-related_disorder	MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	0.02	B	0.003	B	.	.	1.000	N	1.52	L	-3.67	D	-0.277	T	0.653	D	0.133	1.427	10.71	-0.091	-0.201	1.518	0.639	0.188	0.0179359380178	0.0002	0.000199681	0.0010	0.0001	0.0002	0.0001	0	0.0004	0	0.0056	0.0008667	134	154602	rs202148411	0.0007	0.0007	0.0005	0.0009	0.0057	0.0007	0.0007	0.0053	0.0051	2.987e-05	0.0003	3.826e-05	5.038e-05	0	0.0010	0.0004	0.0008	0.0057	0.0005	0.0005	0.0004	0.0006	0.0066	0.0004	0.0004	0.0048	0.0042	7.217e-05	0	0.0003	0	0	0	0.0034	0.0005	0	0.0066	0.07	0.35349	T	0.178	0.29639	T	0.02	0.18235	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.755	0.19153	N	-3.67	0.95247	D	-3.5	0.68178	D	0.318	0.38129	-0.2768	0.75627	T	0.653	0.87920	D	9	0.010714948	0.00237	T	0.017936	0.39831	T	0.188	0.46444	.	.	0.491996647052	0.48833	0.4697696185806288	0.46895	.	.	0.217368483543	0.01163	T	0.059	0.80511	T	-0.298317	0.08819	T	-0.199646	0.54679	T	0.0163368098789863	0.00403	T	0.579642	0.20943	T	0.038133044	0.05022	0.07338558	0.15941	0.044029597	0.06967	0.072141185	0.15528	-4.851	0.35179	T	0.5754239349297257	0.64241	0.069	0.03266	B	.;.;.	.;.;.	1.328128	0.17329	13.10	0.96896723090384285	0.31519	0.11575	0.16724	N	AEFDGBIJ	0.102146	0.20498	N	-0.992002254049234	0.08774	0.4126724	-1.03338561745372	0.09056	0.4484929	3.53075473774056E-4	0.06668	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.49	-0.0909	0.12999	1.525000	0.35560	0.486000	0.18854	-0.127000	0.13314	0.006000	0.17386	0.002000	0.18203	0.292000	0.24309	0.3453:0.1194:0.2911:0.2442	0.639	0.00755	266	0.89551	Myosin head, motor domain;Myosin head, motor domain;Myosin head, motor 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	1327.98	34	chr17	18124520	.	G	A	1327.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=799;ExcessHet=0.0000;FS=1.716;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.43;ReadPosRankSum=0.292;SOR=0.853	GT:AD:DP:GQ:PL	0/1:39,53:92:99:1342,0,829	20	0	1	0
chr17	18487701	18487701	C	T	exonic	LGALS9C	.	nonsynonymous SNV	LGALS9C:NM_001040078:exon4:c.C388T:p.R130C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.136	B	0.017	B	0.116	N	1.000	N	2.96	M	3.39	T	-0.977	T	0.030	T	0.155	1.129	9.602	-0.274	-0.278	-2.024	2.859	0.064	0.00408481869391	.	.	0.0002	0	0.0009	0	0.0003	2.22e-05	0	0.0007	3.84e-05	1	26028	rs757744648	7.697e-05	0.0001	8.005e-05	7.385e-05	0.0003	6.518e-05	6.062e-05	0.0002	0.0002	3.004e-05	0.0003	0	2.527e-05	9.65e-05	0	5.019e-05	0.0001	0.0003	5.776e-05	9.361e-05	9.844e-05	1.484e-05	0.0001	2.78e-05	2.091e-05	5.472e-05	3.828e-05	2.469e-05	0	0	0	0	0	0	0.0001	0	0	0.22	0.18956	T	0.096	0.46182	T	0.136	0.27347	B	0.017	0.18140	B	0.115837	0.02681	N	1.761250	1	0.08975	N	3.36	0.91202	M	3.39	0.05710	T	-3.5	0.68178	D	0.305	0.35301	-0.9766	0.35772	T	0.030	0.12848	T	10	0.16310754	0.30551	T	0.004085	0.09744	T	0.064	0.18567	0.757	0.88648	0.082315109003	0.07666	0.37097069515603587	0.37011	.	.	0.341344356537	0.16639	T	0.11931	0.44074	T	-0.496085	0.00601	T	-0.616218	0.11485	T	0.128243686319994	0.15218	T	.	.	.	0.17183976	0.37841	0.12824482	0.30857	0.17183976	0.37840	0.12824482	0.30856	-8.566	0.64865	D	.	.	0.113	0.24867	B	.;.;.;.;.	.;.;.;.;.	1.432986	0.18516	13.78	0.77201032541300907	0.11778	0.01384	0.04710	N	AEFI	0.153401	0.27825	N	-0.845498144842939	0.12160	0.591089	-0.995667703957755	0.09882	0.4942853	1.26206073939335E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	3.37	-0.274	0.12272	-0.924000	0.04104	-5.630000	0.01650	0.279000	0.18609	0.000000	0.06391	0.000000	0.08366	0.455000	0.28006	0.1982:0.5276:0.164:0.1103	2.859	0.05237	745	0.52414	Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain;Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain;Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain;Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain;Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition 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	1451.98	40	chr17	18487701	.	C	T	1451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.52;DP=1135;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.30;MQRankSum=-1.469e+00;QD=9.07;ReadPosRankSum=1.34;SOR=0.736	GT:AD:DP:GQ:PL	0/1:104,56:160:99:1466,0,2958	20	0	1	0
chr17	21703540	21703540	G	A	exonic	KCNJ18	.	nonsynonymous SNV	KCNJ18:NM_001194958:exon3:c.G754A:p.D252N,	.	.	205	1307	10	0	0	10	0.00381098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442997426	0.0019	0.0019	0.0019	0.0019	0.0019	0.0019	0.0018	0.0016	0.0016	0.0002	0.0005	0.0067	0	0.0090	0.0019	0.0017	0.0019	0.0013	0.0022	0.0022	0.0021	0.0024	0.0020	0.0020	0.0019	0.0018	0.0016	0.0003	0.0647	0.0008	0.0066	0	0.0081	0	0.0020	0.0014	0.0010	1.0	0.00964	T	0.994	0.02342	T	.	.	.	.	.	.	0.000001	0.84330	D	0.054033	0.98678	0.40486	D	.	.	.	-3.25	0.93532	D	2.28	0.00297	N	0.114	0.10198	-0.4136	0.71595	T	0.453	0.78609	T	10	0.0043029487	0.00087	T	0.02044	0.43035	T	.	.	.	.	0.12205267543	0.11705	0.2884625887677439	0.28759	.	.	0.807248353958	0.83070	D	0.258941	0.63015	T	-0.0419342	0.45661	T	-0.298012	0.44935	T	0.00638062166500839	0.00071	T	0.911809	0.68723	D	0.07261475	0.16165	0.075169444	0.16522	0.07261475	0.16165	0.075169444	0.16521	-5.485	0.41728	T	0.08982883176862748	0.05531	0.108	0.20274	B	.	.	2.208910	0.28181	17.71	0.95624748289150829	0.27398	0.85602	0.44752	D	AEFDGBI	.	.	.	-0.584844816369541	0.19403	1.015295	-0.380364863585788	0.25582	1.407783	0.999999990649256	0.74766	0.475244	0.09938	2	0.578056	0.33634	0	0.641878	0.46077	1	0.604944	0.38103	0	.	.	5.42	4.44	0.53164	0.667000	0.24794	2.256000	0.31725	0.123000	0.17643	0.253000	0.24879	0.994000	0.32194	0.679000	0.33513	0.0735:0.0:0.778:0.1485	9.037	0.35456	840	0.37365	.	.	.	.	.	.	Uncertain significance	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	4348.98	38	chr17	21703540	.	G	A	4348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.170e-01;DP=2012;ExcessHet=0.0000;FS=15.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.96;MQRankSum=0.665;QD=11.51;ReadPosRankSum=0.784;SOR=0.855	GT:AD:DP:GQ:PL	0/1:199,179:378:99:4363,0,5624	20	0	1	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	0/1:44,61:105:99:827,0,404	0	0	21	0
chr17	38183597	38183597	C	A	exonic	TBC1D3;TBC1D3C;TBC1D3E;TBC1D3K	.	nonsynonymous SNV	TBC1D3C:NM_001001418:exon13:c.G1008T:p.E336D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs748503461	0.0004	0.0003	0.0004	0.0003	0.0035	0.0003	0.0003	0.0026	0.0023	0.0035	0.0006	0	0.0011	6.247e-05	0.0011	3.326e-05	0.0012	0.0002	0.0010	0.0018	0.0014	0.0006	0.0014	0.0006	0.0005	0.0009	0.0007	0.0014	0	0	0	0	0	0	0.0004	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.22486	.	.	.	.	.	.	.	0.05242291	0.05273	T	.	.	.	.	.	.	.	.	.	0.03713125335445186	0.03660	.	.	.	.	.	0.004334	0.03739	T	.	.	.	.	.	.	.	.	.	0.509849	0.16238	T	.	.	.	.	.	.	.	.	1.372	0.00093	T	.	.	0.066	0.02091	B	.	.	-0.874812	0.00968	0.038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.259000	0.08742	-10.797000	0.00665	-0.817000	0.03001	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	.	.	.	250	0.90192	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02941	70.26	3	chr17	38183597	.	C	A	70.26	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.834e+00;DP=49;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1125;MLEAC=1;MLEAF=0.029;MQ=20.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=-1.834e+00;SOR=1.329	GT:AD:DP:GQ:PL	0/1:2,4:6:31:81,0,31	16	0	1	4
chr17	40162068	40162068	G	C	exonic	CASC3	.	nonsynonymous SNV	CASC3:NM_007359:exon5:c.G523C:p.D175H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.505	M	.	.	0.079	D	0.529	D	0.865	3.074	16.26	5.9	2.793	9.274	19.047	0.641	0.0807215300264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.795e-06	6.775e-05	5.454e-06	4.131e-06	6.306e-06	1.99e-06	1.28e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.306e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.01	0.65728	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.435	0.70606	M	.	.	.	-5.22	0.83830	D	0.922	0.92550	0.079	0.83794	D	0.529	0.82511	D	9	0.84221935	0.83379	D	0.080722	0.73523	D	0.641	0.86333	0.436	0.48828	0.443461608722	0.43965	0.5624273491863095	0.56169	1.98574131709	0.93678	0.84840118885	0.89372	D	0.482206	0.81045	T	0.395668	0.89663	D	0.330573	0.89533	D	0.977214217185974	0.71738	D	0.979802	0.93081	D	0.63590413	0.74613	0.7816143	0.87128	0.63590413	0.74614	0.7816143	0.87129	-14.987	0.95822	D	.	.	0.999	0.98051	P	.	.	5.267253	0.88442	29.6	0.95566087231948227	0.27250	0.99878	0.99928	D	AEFDBI	0.911652	0.87121	D	0.963292466953755	0.94499	12.80501	0.946896869227198	0.97310	15.91735	0.999999999869152	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	9.404000	0.96648	9.901000	0.82349	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.047	0.93006	204	0.92044	Btz domain|Btz 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	0.06667	42.81	59	chr17	40162068	.	G	C	42.81	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-2.375e+00;DP=1145;ExcessHet=0.1072;FS=160.626;InbreedingCoeff=-0.1356;MLEAC=2;MLEAF=0.067;MQ=60.00;MQRankSum=0.00;QD=0.28;ReadPosRankSum=1.84;SOR=7.613	GT:AD:DP:GQ:PL	0/1:57,21:78:44:44,0,1048	13	0	2	6
chr17	41041286	41041286	G	0	exonic	KRTAP1-1	.	.	.	.	.	423	643	441	0	15	456	0.255356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	3885.87	242	chr17	41041286	.	G	T,*	3885.87	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=2.73;DP=3812;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=10,1;MLEAF=0.238,0.024;MQ=59.30;MQRankSum=-1.165e+01;QD=1.29;ReadPosRankSum=4.68;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:242,20,0:262:99:0|1:41041286_G_T:112,0,9797,840,9858,10697:41041286	10	0	10	0
chr17	41041297	41041297	G	0	exonic	KRTAP1-1	.	.	.	.	.	0	91	122	0	13	135	0.401316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2306.36	255	chr17	41041297	.	G	*,C	2306.36	.	AC=1,9;AF=0.025,0.225;AN=40;BaseQRankSum=2.19;DP=3862;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3496;MLEAC=1,10;MLEAF=0.025,0.250;MQ=59.29;MQRankSum=-1.141e+01;QD=0.84;ReadPosRankSum=4.87;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:240,0,22:262:99:0|1:41041286_G_T:121,843,10530,0,9687,9624:41041286	10	0	1	1
chr17	47974009	47974009	G	T	exonic	CDK5RAP3	.	nonsynonymous SNV	CDK5RAP3:NM_001278197:exon4:c.G338T:p.R113L	.	.	424	1088	10	0	0	10	0.00457457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	1.0	D	1.0	D	0.000	D	1.000	D	3.03	M	0.76	T	-0.388	T	0.332	T	0.932	5.013	29.5	4.56	1.342	9.231	13.141	0.536	.	.	0.0105831	0.0050	0.0002	0.0003	0	0	5.995e-05	0.0044	0.0360	0.0044631	690	154602	rs201973580	0.0021	0.0021	0.0012	0.0031	0.0339	0.0021	0.0020	0.0328	0.0324	0.0001	2.236e-05	0	2.519e-05	0	0.0021	2.519e-05	0.0021	0.0339	0.0013	0.0013	0.0007	0.0020	0.0414	0.0012	0.0011	0.0367	0.0349	7.215e-05	0	0	0	0	0	0	0	0	0.0414	0.004	0.65419	D	0.167	0.30729	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.335	0.90898	M	0.76	0.49919	T	-5.21	0.83763	D	0.919	0.92317	-0.3884	0.72392	T	0.332	0.69927	T	10	0.014095038	0.00297	T	.	.	.	0.536	0.80545	.	.	0.824481828275	0.82282	0.555698876831675	0.55496	0.533885050813	0.50818	0.693994045258	0.66279	T	0.148647	0.48729	T	-0.0271763	0.47826	T	0.213949	0.83868	D	0.182294480565301	0.19379	T	0.961004	0.92360	D	0.604937	0.72956	0.45090437	0.68049	0.604937	0.72957	0.45090437	0.68049	-6.093	0.51372	T	.	.	0.696	0.73696	P	.;.;.;.;.	.;.;.;.;.	5.428779	0.90793	31	0.99851110760734285	0.93013	0.99310	0.94309	D	AEFDBI	0.920314	0.89212	D	0.796813600121588	0.85907	8.718294	0.725394114312064	0.84305	8.255621	0.99999999227298	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	4.56	0.55644	9.389000	0.96610	9.923000	0.82520	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0786:0.0:0.9214:0.0	13.141	0.58851	706	0.57215	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2320.08	36	chr17	47974009	.	G	T	2320.08	.	AC=2;AF=0.048;AN=42;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.74;SOR=1.108	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2348,234,0	20	1	0	0
chr17	48862926	48862926	A	G	exonic	CALCOCO2	.	nonsynonymous SNV	CALCOCO2:NM_001261393:exon12:c.A1136G:p.N379S	.	.	.	.	.	.	.	.	.	.	.	2758038	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.22	T	0.008	B	0.004	B	0.686	N	1.000	N	1.795	L	2.79	T	-0.960	T	0.029	T	0.041	2.650	14.82	-0.731	-0.340	0.045	0.441	0.043	0.00159790571612	.	.	3.295e-05	0	0	0.0001	0	2.997e-05	0	6.056e-05	2.59e-05	4	154602	rs759882056	1.505e-05	1.505e-05	1.498e-05	1.513e-05	5.039e-05	9.85e-06	8.42e-06	9.31e-06	7.61e-06	0	0	0	5.039e-05	0	0	1.529e-05	0	3.478e-05	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.317	0.22053	T	0.458	0.12668	T	0.002	0.09854	B	0.002	0.06944	B	0.686460	0.06121	N	1.175380	1	0.08975	N	1.5	0.37844	L	2.79	0.13673	T	-0.7	0.22508	N	0.066	0.18239	-0.9598	0.39218	T	0.029	0.12585	T	10	0.096156895	0.17226	T	0.001598	0.02574	T	0.043	0.11576	.	.	0.0551355673512	0.04727	0.2765344905335568	0.27566	0.185605157575	0.20870	0.311300754547	0.12104	T	0.001744	0.01167	T	-0.487263	0.00673	T	-0.768568	0.02815	T	0.0561791285872459	0.06554	T	0.757524	0.40135	T	0.060904104	0.12551	0.03229602	0.01943	0.060904104	0.12551	0.03229602	0.01942	-0.956	0.01561	T	.	.	0.067	0.02370	B	.;.;.;.;.	.;.;.;.;.	0.605888	0.09744	6.511	0.93868917023094822	0.23879	0.03666	0.08928	N	AEFGBI	0.197825	0.32473	N	-0.821025118231153	0.12774	0.6248241	-0.855331508022767	0.13160	0.6811458	4.2355159250556E-4	0.06935	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.69	-0.731	0.10589	0.046000	0.13919	-0.716000	0.07727	-0.122000	0.13826	0.067000	0.21986	0.000000	0.08366	0.706000	0.34326	0.3936:0.1838:0.2442:0.1785	0.441	0.00453	737	0.53483	.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	3930.08	35	chr17	48862926	.	A	G	3930.08	.	AC=2;AF=0.048;AN=42;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.23;SOR=0.724	GT:AD:DP:GQ:PL	1/1:0,130:130:99:3958,390,0	20	1	0	0
chr17	57106116	57106116	G	A	exonic	AKAP1	.	nonsynonymous SNV	AKAP1:NM_001370424:exon2:c.G652A:p.A218T	.	.	420	1088	14	0	0	14	0.00639269	.	.	704243	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.12	T	0.0	B	0.0	B	0.361	N	1.000	N	-0.345	N	2.46	T	-1.041	T	0.012	T	0.185	2.394	13.96	4.54	1.567	1.149	7.874	0.082	.	0.0094	0.00798722	0.0072	0.0128	0.0055	0	0.0017	0.0088	0.0102	0.0043	0.0069339	1072	154602	rs73991770	0.0087	0.0087	0.0088	0.0086	0.0157	0.0086	0.0086	0.0146	0.0142	0.0157	0.0061	0.0129	0	0.0018	0.0152	0.0094	0.0102	0.0050	0.0086	0.0086	0.0089	0.0082	0.0119	0.0082	0.0080	0.0110	0.0107	0.0119	0	0.0099	0.0130	0	0.0014	0.0272	0.0081	0.0104	0.0043	0.096	0.31088	T	0.749	0.63918	T	0.0	0.02946	B	0.0	0.01387	B	0.360858	0.13672	N	0.713287	0.999998	0.08975	N	0	0.06538	N	2.46	0.19311	T	-0.38	0.13805	N	0.023	0.00942	-1.0407	0.17101	T	0.012	0.04653	T	10	0.0032155812	0.00055	T	.	.	.	0.082	0.23913	.	.	0.27064940482	0.26676	0.26274687574475475	0.26187	0.229235690652	0.25486	0.264042049646	0.05381	T	0.06946	0.40507	T	-0.575529	0.00205	T	-0.587807	0.13856	T	0.0103156084136076	0.00141	T	0.685131	0.29365	T	0.03802814	0.04989	0.04430828	0.05711	0.03802814	0.04989	0.04430828	0.05711	-3.672	0.19097	T	.	.	0.072	0.18164	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.073842	0.14562	11.13	0.9608047479410895	0.28653	0.58585	0.30681	D	AEFGBI	0.066082	0.12923	N	-0.61244113867462	0.18569	0.9651327	-0.475585080812079	0.22828	1.241874	0.997684897313323	0.35903	0.732398	0.92422	0	0.724815	0.89359	0	0.698795	0.65105	0	0.727631	0.95156	0	.	.	5.51	4.54	0.55220	1.393000	0.34106	2.724000	0.34335	0.590000	0.31872	0.888000	0.31154	0.999000	0.35428	0.003000	0.05239	0.1851:0.0:0.8149:0.0	7.874	0.28747	67	0.97183	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	5147.08	107	chr17	57106116	.	G	A	5147.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.77;DP=2063;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=34.31;ReadPosRankSum=-8.550e-01;SOR=0.363	GT:AD:DP:GQ:PL	1/1:1,149:150:99:5175,439,0	20	1	0	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	1/1:0,137,0,0:137:99:6046,418,0,6046,418,6046,6046,418,6046,6046	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	1/1:0,137,0,0:137:99:6046,418,0,6046,418,6046,6046,418,6046,6046	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	1/1:0,137,0,0:137:99:6046,418,0,6046,418,6046,6046,418,6046,6046	15	1	1	0
chr17	63836957	63836957	T	A	exonic	SMARCD2	.	nonsynonymous SNV	SMARCD2:NM_001098426:exon4:c.A532T:p.M178L	.	.	.	.	.	.	.	.	.	.	.	1158077	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.011	B	0.016	B	0.000	D	1.000	D	-0.365	N	1.36	T	-1.058	T	0.025	T	0.279	-0.299	2.572	4.41	1.084	2.118	10.889	0.077	0.0138165433951	.	0.00119808	0.0008	0	8.639e-05	0.0095	0	0	0	0.0005	0.0006856	106	154602	rs184746026	0.0003	0.0003	0.0002	0.0003	0.0066	0.0002	0.0002	0.0060	0.0057	0	4.472e-05	0.0002	0.0066	0	0	2.069e-05	0.0005	0.0006	0.0003	0.0003	0.0002	0.0004	0.0079	0.0002	0.0002	0.0060	0.0053	0	0	6.537e-05	0	0.0079	0	0	1.47e-05	0	0.0006	1.0	0.00964	T	1.0	0.01155	T	0.011	0.15914	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	-2.21	0.00121	N	1.36	0.34452	T	0.92	0.01573	N	0.397	0.43803	-1.0578	0.12311	T	0.025	0.10598	T	10	0.0045084357	0.00093	T	0.013817	0.33509	T	0.077	0.22490	0.397	0.42426	0.123314135267	0.11883	0.5252111698623224	0.52445	1.18713337383	0.80177	0.791351020336	0.80648	T	0.005081	0.17006	T	-0.513866	0.00477	T	-0.503803	0.21953	T	0.0292352642302849	0.01873	T	0.929607	0.73996	D	0.13963369	0.32247	0.13927022	0.33235	0.13963369	0.32247	0.13927022	0.33234	-3.607	0.25614	T	.	.	0.211	0.43855	B	.;.;.;.	.;.;.;.	3.205004	0.43602	21.8	0.6728041285549069	0.08308	0.86092	0.45309	D	AEFBCI	0.409989	0.48105	N	-0.852242650811577	0.11995	0.5820397	-0.634296709728132	0.18615	0.995158	0.999986136453351	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	4.41	0.52588	1.388000	0.34048	7.943000	0.75571	0.665000	0.62972	0.984000	0.35821	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.158:0.842	10.889	0.46196	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	1	0	0	0	0	0	0	0.02381	1266.98	34	chr17	63836957	.	T	A	1266.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=779;ExcessHet=0.0000;FS=0.811;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.62;ReadPosRankSum=-6.350e-01;SOR=0.871	GT:AD:DP:GQ:PL	0/1:44,49:93:99:1281,0,1043	20	0	1	0
chr17	63911190	63911190	C	T	exonic	CSHL1	.	nonsynonymous SNV	CSHL1:NM_001321067:exon1:c.G7A:p.A3T	.	.	0	1512	7	0	3	10	0.00230947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.112	B	0.087	B	0.089	N	1.000	D	1.66	L	-1.86	D	-0.571	T	0.545	D	0.229	0.099	4.534	-0.308	-0.007	-0.696	5.611	0.254	.	.	0.00139776	0.0012	0.0003	0.0003	0.0116	0.0002	0.0003	0	0.0009	0.0010479	162	154602	rs61762504	0.0004	0.0005	0.0003	0.0004	0.0086	0.0003	0.0003	0.0079	0.0076	2.989e-05	4.473e-05	0.0002	0.0086	0	0.0007	4.768e-05	0.0006	0.0008	0.0004	0.0004	0.0003	0.0005	0.0096	0.0003	0.0003	0.0075	0.0067	0	0	6.533e-05	0	0.0096	0	0	5.88e-05	0	0.0006	0.001	0.78490	D	0.004	0.76473	D	0.112	0.26290	B	0.087	0.29615	B	0.088871	0.02433	N	2.152470	1	0.81001	D	1.59	0.40313	L	-1.66	0.87512	D	-0.05	0.30964	N	0.198	0.21839	-0.5708	0.65982	T	0.545	0.83279	D	10	0.0055052936	0.00181	T	.	.	.	0.254	0.56428	0.318	0.29581	0.728201419959	0.72579	0.23812298541815458	0.23726	0.02383035318	0.02414	0.404264748096	0.25661	T	0.004638	0.04050	T	-0.37026	0.03581	T	-0.295235	0.45225	T	0.025484947010334	0.01336	T	0.272073	0.33571	T	0.0519955	0.09632	0.086983435	0.20190	0.0519955	0.09631	0.086983435	0.20189	-3.026	0.35993	T	.	.	0.134	0.33550	B	.;.;.;.	.;.;.;.	0.707488	0.10766	7.450	0.87487889185112522	0.17263	0.43020	0.27006	N	AEFBCI	0.071005	0.14116	N	-0.783502255459212	0.13739	0.6790683	-0.788718422164984	0.14772	0.7735844	6.33795859740278E-4	0.07505	0.59774	0.34471	0	0.615948	0.52940	0	0.574621	0.27300	0	0.63947	0.58350	0	.	.	2.95	-0.308	0.12139	-0.727000	0.05034	-0.443000	0.09147	0.327000	0.19478	0.890000	0.31197	0.069000	0.22184	0.009000	0.08673	0.0:0.6035:0.0:0.3965	5.611	0.16684	871	0.31377	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1749.98	36	chr17	63911190	.	C	T	1749.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.317e+00;DP=893;ExcessHet=0.0000;FS=0.686;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.46;ReadPosRankSum=0.087;SOR=0.599	GT:AD:DP:GQ:PL	0/1:51,70:121:99:1764,0,1234	20	0	1	0
chr17	63964507	63964507	C	T	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon9:c.G1413A:p.M471I,	Hyperkalemic periodic paralysis, type 2, Autosomal dominant;Hypokalemic periodic paralysis, type 2, Autosomal dominant;Myasthenic syndrome, congenital, 16, Autosomal recessive;Myotonia congenita, atypical, acetazolamide-responsive, Autosomal dominant;Paramyotonia congenita, Autosomal dominant	.	1	1503	17	1	0	19	0.00628099	.	.	339683	Potassium-aggravated_myotonia|Familial_hyperkalemic_periodic_paralysis|not_provided|Hypokalemic_periodic_paralysis,_type_2|Congenital_myasthenic_syndrome_16|Paramyotonia_congenita_of_Von_Eulenburg	MONDO:MONDO:0018959,MedGen:C2931826,OMIM:608390,Orphanet:612,Orphanet:99734,Orphanet:99735,Orphanet:99736|Human_Phenotype_Ontology:HP:0007215,MONDO:MONDO:0008224,MedGen:C0238357,OMIM:170500,Orphanet:682|MedGen:C3661900|MONDO:MONDO:0013234,MedGen:C2750061,OMIM:613345,Orphanet:681|MONDO:MONDO:0013620,MedGen:C3280112,OMIM:614198,Orphanet:590|MONDO:MONDO:0008195,MedGen:C0221055,OMIM:168300,Orphanet:684	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.25	T	0.889	P	0.341	B	0.000	D	0.558	D	1.32	L	-3.84	D	0.548	D	0.727	D	0.374	2.225	13.40	4.9	2.533	1.177	8.495	0.458	0.20939919042	.	0.000798722	0.0007	0	0	0	0	0.0003	0.0011	0.0039	0.0005886	91	154602	rs527384137	0.0003	0.0003	0.0002	0.0004	0.0045	0.0003	0.0003	0.0032	0.0029	0	2.236e-05	0.0005	0	1.873e-05	0.0045	7.825e-05	0.0005	0.0034	0.0001	0.0002	7.706e-05	0.0002	0.0029	9.733e-05	8.249e-05	0.0018	0.0014	0	0	0	0.0006	0	0	0.0034	5.879e-05	0.0005	0.0029	0.101	0.30375	T	0.341	0.17964	T	0.889	0.48869	P	0.341	0.42432	B	0.000025	0.55875	D	0.157058	0.558257	0.32191	D	0.72	0.18721	N	-3.84	0.95826	D	-1.61	0.38734	N	0.292	0.33030	0.548	0.91205	D	0.727	0.90665	D	10	0.012795389	0.00274	T	0.209399	0.87197	D	0.458	0.75619	0.477	0.55502	0.813402561589	0.81164	0.3318528599119761	0.33098	0.27892697211	0.30372	0.485950410366	0.36878	T	0.374278	0.73811	T	-0.171903	0.24946	T	-0.0211762	0.68951	D	0.100660812212562	0.12430	T	0.940956	0.77922	D	0.46488395	0.64975	0.49076197	0.70540	0.46488395	0.64975	0.49076197	0.70540	-6.067	0.46836	T	0.09103757524593284	0.05734	0.627	0.69995	P	.	.	3.252728	0.44454	21.9	0.98419421969431442	0.41266	0.84311	0.43393	D	AEFDGBI	0.292559	0.40340	N	0.215408235574135	0.51946	3.372059	0.279162730105717	0.54324	3.59776	0.0505720881189988	0.14844	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.9	4.9	0.63643	1.695000	0.37381	4.034000	0.41364	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.1606:0.6615:0.1779:0.0	8.495	0.32282	795	0.45444	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1011.98	35	chr17	63964507	.	C	T	1011.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.090e-01;DP=819;ExcessHet=0.0000;FS=5.287;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=-1.227e+00;SOR=1.242	GT:AD:DP:GQ:PL	0/1:56,41:97:99:1026,0,1450	20	0	1	0
chr17	74893496	74893496	-	GGGTT	exonic	FADS6	.	frameshift insertion	FADS6:NM_178128:exon1:c.99_100insAACCC:p.A34Nfs*25,	.	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	7.931e-05	0.0002	0.0012	0.0001	0.0001	0.0005	0.0003	3.504e-05	2.557e-05	0.0008	0	0.0010	0.0012	4.21e-05	0.0002	0.0005	0.0004	0.0003	0.0003	0.0004	0.0020	0.0003	0.0002	0.0009	0.0007	0.0001	0	0.0001	0	0	0.0015	0	0.0003	0.0007	0.0020	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	2457.25	33	chr17	74893496	.	C	CGGGTT	2457.25	.	AC=2;AF=0.056;AN=36;DP=1092;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5314;MLEAC=2;MLEAF=0.056;MQ=60.00;QD=29.61;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,83:83:99:1|1:74893496_C_CGGGTT:2483,238,0:74893496	17	1	0	3
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	4|4:0,0,0,0,83:83:99:1|1:74893496_C_CGGGTT:2483,2483,2483,2483,2483,2483,2483,2483,2483,2483,238,238,238,238,0:74893496	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	4|4:0,0,0,0,83:83:99:1|1:74893496_C_CGGGTT:2483,2483,2483,2483,2483,2483,2483,2483,2483,2483,238,238,238,238,0:74893496	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	4|4:0,0,0,0,83:83:99:1|1:74893496_C_CGGGTT:2483,2483,2483,2483,2483,2483,2483,2483,2483,2483,238,238,238,238,0:74893496	12	1	1	0
chr17	75629433	75629433	A	T	exonic	RECQL5	.	nonsynonymous SNV	RECQL5:NM_004259:exon16:c.T1990A:p.C664S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.001	B	0.005	B	0.880	N	1.000	N	1.06	L	0.34	T	-1.021	T	0.079	T	0.323	-0.037	3.824	-0.13	-0.190	-0.796	0.745	0.126	0.010691953867	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1008681987	5.17e-06	5.472e-06	2.887e-06	7.564e-06	0.0002	2.15e-06	1.38e-06	1.38e-06	1e-06	0	0	0	0	0	0.0002	4.716e-06	1.795e-05	0	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.532	0.06980	T	0.509	0.10857	T	0.0	0.02946	B	0.002	0.06944	B	0.879624	0.08764	N	0.953388	1	0.08975	N	1.12	0.28775	L	0.34	0.58176	T	0.93	0.01551	N	0.123	0.11483	-1.0208	0.23454	T	0.079	0.31496	T	10	0.1940214	0.35195	T	0.010692	0.27515	T	0.126	0.34673	0.719	0.85408	0.299427821978	0.29548	0.24094781017554406	0.24008	0.143490453161	0.16199	0.217009395361	0.01144	T	0.051448	0.33189	T	-0.150916	0.28168	T	-0.454557	0.27194	T	0.0584433745175636	0.06921	T	0.389261	0.16117	T	0.021816423	0.00805	0.03208841	0.01891	0.021816423	0.00805	0.03208841	0.01891	-1.429	0.01704	T	.	.	0.093	0.34514	B	.;.;.;.	.;.;.;.	-0.942887	0.00856	0.030	0.73140298154358452	0.10221	0.05783	0.11717	N	AEFGBHCI	0.054380	0.09882	N	-1.46641580253932	0.02091	0.09197066	-1.45371790578322	0.02737	0.1264167	0.741874941700882	0.23225	0.732398	0.92422	0	0.743671	0.97443	0	0.635938	0.45252	0	0.683762	0.67416	0	.	.	4.96	-0.13	0.12839	-0.806000	0.04632	0.189000	0.15722	-1.264000	0.01288	0.000000	0.06391	0.002000	0.18203	0.016000	0.10718	0.4549:0.1714:0.1594:0.2142	0.745	0.00917	976	0.04745	.;RecQ helicase-like 5|RecQ helicase-like 5;RecQ helicase-like 5|RecQ helicase-like 5;RecQ helicase-like 5|RecQ helicase-like 5	.	.	.	.	.	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	2586.08	78	chr17	75629433	.	A	T	2586.08	.	AC=2;AF=0.048;AN=42;DP=1472;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.73;SOR=0.763	GT:AD:DP:GQ:PL	1/1:0,87:87:99:2614,261,0	20	1	0	0
chr17	76733609	76733609	G	A	exonic	METTL23	.	nonsynonymous SNV	METTL23:NM_001206985:exon4:c.G295A:p.D99N	Mental retardation, autosomal recessive 44, Autosomal recessive	.	432	1087	3	0	0	3	0.00137804	.	.	247141	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.39	T	0.0	B	0.001	B	0.076	N	1.000	D	0.49	N	1.93	T	-1.056	T	0.022	T	0.046	2.720	15.06	2.75	0.843	1.078	5.453	0.031	0.00484687139858	0.0070	0.00359425	0.0063	0.0015	0.0085	0	0.0012	0.0093	0.0056	0.0005	0.005996	927	154602	rs138247613	0.0077	0.0077	0.0078	0.0075	0.0090	0.0076	0.0075	0.0089	0.0088	0.0014	0.0080	0.0067	5.04e-05	0.0010	0.0052	0.0090	0.0072	0.0011	0.0058	0.0058	0.0063	0.0053	0.0094	0.0055	0.0054	0.0088	0.0086	0.0020	0	0.0068	0.0072	0	0.0004	0	0.0094	0.0118	0.0010	0.264	0.16358	T	0.549	0.09457	T	0.0	0.02946	B	0.001	0.04355	B	0.076304	0.21170	N	0.550760	0.976786	0.81001	D	0.695	0.17993	N	1.96	0.44065	T	-0.43	0.14390	N	0.058	0.09914	-1.0560	0.12776	T	0.022	0.09284	T	10	0.0042325854	0.00085	T	0.004847	0.12161	T	0.031	0.07369	.	.	0.345405024496	0.34151	0.7319529973661795	0.73140	7.65239874523E-4	0.00068	0.315866708755	0.12795	T	0.005118	0.04559	T	-0.645028	0.00078	T	-0.68992	0.06394	T	0.00655329688668455	0.00073	T	0.730727	0.36808	T	0.06487528	0.13809	0.049167648	0.07457	0.060005613	0.12263	0.05461715	0.09428	-3.212	0.22858	T	.	.	0.069	0.04517	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.432422	0.31291	18.70	0.99160457433534677	0.54071	0.94350	0.60885	D	AEFDBHCI	0.696497	0.65482	D	-0.393034489815355	0.25717	1.398086	-0.207542609368737	0.31264	1.767713	0.999999636159112	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.657601	0.63696	0	.	.	5.93	2.75	0.31439	1.126000	0.30958	.	.	0.676000	0.76740	0.987000	0.36337	1.000000	0.68203	0.998000	0.85391	0.0855:0.4625:0.3447:0.1074	5.453	0.15872	822	0.40702	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.04762	4227.08	34	chr17	76733609	.	G	A	4227.08	.	AC=2;AF=0.048;AN=42;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.41;SOR=1.038	GT:AD:DP:GQ:PL	1/1:0,139:139:99:4255,416,0	20	1	0	0
chr17	79735355	79735355	C	A	exonic	ENPP7	.	nonsynonymous SNV	ENPP7:NM_178543:exon3:c.C712A:p.R238S,	.	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.001	B	0.012	B	0.981	N	1.000	N	-0.4	N	-0.81	T	-0.975	T	0.108	T	0.184	-1.843	0.009	-6.25	-1.051	1.531	3.812	0.137	0.0135050875108	0.0015	0.000399361	0.0014	0.0003	0	0	0.0030	0.0019	0	0.0015	0.0014683	227	154602	rs144007702	0.0021	0.0021	0.0021	0.0020	0.0024	0.0020	0.0020	0.0023	0.0023	0.0004	6.708e-05	3.826e-05	0	0.0022	0.0007	0.0024	0.0013	0.0017	0.0011	0.0011	0.0012	0.0010	0.0019	0.0010	0.0009	0.0015	0.0015	0.0003	0	0.0003	0	0	0.0017	0.0034	0.0018	0	0.0019	0.837	0.02832	T	0.756	0.04703	T	.	.	.	.	.	.	0.981468	0.08091	N	0.992267	1	0.08975	N	.	.	.	-0.81	0.73949	T	0.55	0.02721	N	0.121	0.11197	-0.9747	0.36191	T	0.108	0.39221	T	10	0.01062566	0.00236	T	0.013505	0.32951	T	0.137	0.36984	.	.	0.240491677333	0.23641	0.5131442733717797	0.51236	0.143592484051	0.16211	0.213940173388	0.00990	T	.	.	.	-0.479808	0.00741	T	-0.465978	0.25950	T	0.00446246836952744	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13456	B	.	.	-0.413813	0.02162	0.210	0.23841592245852766	0.01026	0.01785	0.05587	N	AEFDGBI	0.256329	0.37528	N	-1.78484195140975	0.00583	0.0251314	-1.78828262592954	0.00797	0.03558667	0.974876230065872	0.29582	0.57788	0.32782	0	0.593476	0.48661	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.39	-6.25	0.01863	1.515000	0.35452	-0.178000	0.11160	-1.290000	0.01256	0.004000	0.16614	0.000000	0.08366	0.009000	0.08673	0.3662:0.4062:0.1283:0.0994	3.812	0.08316	.	.	.	.	.	.	.	.	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	2928.98	36	chr17	79735355	.	C	A	2928.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.485;DP=963;ExcessHet=0.0000;FS=0.469;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.10;ReadPosRankSum=0.688;SOR=0.740	GT:AD:DP:GQ:PL	0/1:127,115:242:99:2943,0,3201	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|1:0,171,0:171:99:1|1:80090216_G_C:6272,511,0,6272,511,6272:80090216	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|1:0,146,0:146:99:1|1:80090216_G_C:5021,415,0,5021,415,5021:80090216	1	7	4	7
chr17	80421910	80421910	T	G	exonic	ENDOV	.	nonsynonymous SNV	ENDOV:NM_001352760:exon3:c.T311G:p.L104W	.	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.986	D	0.000	D	1.000	N	3.24	M	2.02	T	-0.576	T	0.176	T	0.802	3.933	20.1	4.63	1.936	6.265	12.411	0.443	0.123468442586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-06	1.368e-06	1.363e-06	1.378e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.168e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.79402	D	1.0	0.90584	D	0.986	0.76916	D	0.000140	0.49741	D	0.081024	1	0.81001	D	4.11	0.97368	H	2.02	0.21119	T	-4.93	0.85844	D	0.766	0.76388	-0.5762	0.65768	T	0.176	0.52100	T	10	0.88367677	0.87686	D	0.123468	0.80464	D	0.443	0.74588	0.719	0.85408	0.691544918794	0.68889	0.8446752353531759	0.84428	0.219995407713	0.24543	0.474604427814	0.35314	T	0.199397	0.55666	T	0.137451	0.68081	D	-0.0403378	0.67679	D	0.996739327907562	0.89968	D	0.927707	0.86607	D	0.9600239	0.97282	0.94512755	0.98098	0.9600239	0.97283	0.94512755	0.98098	-14.999	0.95850	D	.	.	0.731	0.74261	P	.;.;.;.;.;.	.;.;.;.;.;.	4.670601	0.74647	26.2	0.96151163512591797	0.28869	0.87047	0.46471	D	AEFDBHCI	0.814339	0.73659	D	0.739941610336423	0.82247	7.716153	0.630819565969092	0.77189	6.631744	0.998286029800863	0.36695	0.660377	0.49826	0	0.694456	0.67091	0	0.489635	0.07774	0	0.664235	0.64389	0	.	.	4.63	4.63	0.57175	6.481000	0.73517	4.908000	0.45924	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.801000	0.37776	0.0:0.0:0.0:1.0	12.411	0.54800	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	824.98	35	chr17	80421910	.	T	G	824.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.92;DP=751;ExcessHet=0.0000;FS=4.010;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.86;ReadPosRankSum=-2.840e-01;SOR=1.414	GT:AD:DP:GQ:PL	0/1:25,27:52:99:839,0,663	20	0	1	0
chr17	82253179	82253179	G	C	exonic	CSNK1D	.	nonsynonymous SNV	CSNK1D:NM_001363749:exon4:c.C402G:p.F134L	Advanced sleep-phase syndrome, familial, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.345	M	0.05	T	-0.291	T	0.378	T	0.868	1.497	10.95	-2.31	-0.428	1.091	14.272	0.585	0.294920260008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.976	0.74843	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.075	0.57047	M	0.05	0.61923	T	-5.77	0.87911	D	0.856	0.86191	-0.2906	0.75249	T	0.378	0.73572	T	10	0.8558959	0.84786	D	0.29492	0.90689	D	0.585	0.83360	0.713	0.84872	0.794112205518	0.79219	0.8391474319513283	0.83874	2.45932965126	0.97411	0.943554639816	0.99578	D	0.463857	0.79964	T	0.245163	0.78146	D	0.114383	0.77862	D	0.996541440486908	0.89565	D	0.972453	0.90829	D	0.9611103	0.97392	0.90685	0.95464	0.9611103	0.97392	0.90685	0.95465	-13.686	0.91992	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.476840	0.48528	22.6	0.94285568772606809	0.24584	0.90166	0.51131	D	AEFDGBHCI	0.511037	0.53983	D	-0.0133870369408241	0.41248	2.46393	-0.161674069915806	0.32961	1.880536	0.999992497670314	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.55	-2.31	0.06380	1.140000	0.31128	1.624000	0.27703	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.797000	0.37605	0.285:0.0:0.715:0.0	14.272	0.65705	.	.	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1818	417.46	117	chr17	82253179	.	G	C	417.46	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-4.148e+00;DP=3037;ExcessHet=0.6776;FS=215.249;InbreedingCoeff=-0.2728;MLEAC=6;MLEAF=0.273;MQ=60.00;MQRankSum=0.00;QD=0.50;ReadPosRankSum=1.94;SOR=11.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:149,48:197:50:.:.:50,0,2597	7	0	4	10
chr18	3188929	3188929	G	A	exonic	MYOM1	.	nonsynonymous SNV	MYOM1:NM_003803:exon4:c.C590T:p.T197M	.	.	428	1058	35	1	0	37	0.0171853	.	.	230889	Hypertrophic_cardiomyopathy|not_specified	Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.726	P	0.202	B	0.216	N	1.000	N	0	N	0.9	T	-1.084	T	0.043	T	0.091	-0.026	3.881	-1.56	-0.921	-1.746	4.442	0.021	.	0.0006	0.00379393	0.0025	0.0001	0.0005	0	0.0002	0.0011	0.0033	0.0130	0.0021669	335	154602	rs142735495	0.0014	0.0014	0.0010	0.0018	0.0131	0.0014	0.0013	0.0125	0.0122	6.011e-05	0.0006	0.0047	2.519e-05	0.0002	0.0069	0.0006	0.0020	0.0131	0.0010	0.0010	0.0007	0.0012	0.0136	0.0008	0.0008	0.0109	0.0100	9.728e-05	0	0.0013	0.0017	0	0	0.0102	0.0006	0.0029	0.0136	0.251	0.22138	T	0.107	0.38016	T	0.396	0.42471	B	0.055	0.36942	B	0.215705	0.03418	N	2.814250	1	0.08975	N	0	0.06538	N	0.89	0.50976	T	0.51	0.02898	N	0.078	0.10340	-1.0844	0.06517	T	0.043	0.18285	T	10	0.0035447478	0.00064	T	.	.	.	0.021	0.04004	.	.	0.35139820857	0.34749	0.1561886216387074	0.15539	0.143767449936	0.16234	0.231919467449	0.02114	T	0.015219	0.12811	T	-0.648357	0.00074	T	-0.693066	0.06213	T	0.0103052720743745	0.00140	T	0.444256	0.21082	T	0.01401323	0.00077	0.03353223	0.02263	0.013964177	0.00075	0.032004338	0.01871	-8.61	0.65313	D	.	.	0.252	0.52401	B	.;.;.	.;.;.	-0.279013	0.02711	0.355	0.67436098881155082	0.08354	0.00836	0.03355	N	AEFGBI	0.050213	0.08755	N	-1.69927224167309	0.00845	0.03652483	-1.8031923915074	0.00749	0.03338637	0.971880573309902	0.29324	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	2.23	-1.56	0.08080	-1.165000	0.03242	-0.665000	0.07962	-3.406000	0.00088	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.3322:0.1804:0.4874:0.0	4.442	0.11002	870	0.31527	.;.;.	.	.	.	.	.	Likely benign	0	0	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	7207.11	245	chr18	3188929	.	G	A	7207.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.06;DP=1691;ExcessHet=0.1072;FS=0.522;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=0.302;SOR=0.760	GT:AD:DP:GQ:PL	0/1:138,156:294:99:3975,0,3195	19	0	2	0
chr18	5419844	5419844	C	T	exonic	EPB41L3	.	nonsynonymous SNV	EPB41L3:NM_001281533:exon12:c.G1427A:p.G476D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.998	D	0.941	D	0.102	N	1.000	D	2.175	M	-1.47	T	0.068	D	0.632	D	0.818	1.995	12.63	3.82	0.827	2.817	11.354	0.581	0.091388410116	.	.	.	.	.	.	.	.	.	.	.	.	.	rs761821278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.63226	D	0.123	0.35582	T	0.756	0.43409	P	0.303	0.41149	B	0.101612	0.19831	N	0.559941	0.99995	0.53665	D	2.77	0.80896	M	-1.63	0.88066	D	-2.24	0.50175	N	0.671	0.67908	0.068	0.83587	D	0.632	0.87110	D	10	0.48991218	0.60930	T	0.091388	0.75697	D	0.581	0.83137	0.295	0.25881	0.868670719821	0.86739	0.5581323701027207	0.55740	0.739457674678	0.63167	0.812882006168	0.83934	D	0.15273	0.49326	T	0.274412	0.80831	D	0.156397	0.80584	D	0.792889535427094	0.45879	D	0.960604	0.85735	D	0.20499112	0.42626	0.24188542	0.49597	0.20499112	0.42626	0.24188542	0.49595	-14.574	0.94773	D	.	.	0.554	0.77907	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.117507	0.61514	24.3	0.9912732738807889	0.53169	0.82639	0.41839	D	AEFBI	0.377409	0.46119	N	-0.0374620760541655	0.40165	2.38062	-0.0512259016342011	0.37437	2.191982	0.999712599983291	0.42101	0.706548	0.73137	0	0.563428	0.19063	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.61	3.82	0.43153	3.060000	0.49648	5.995000	0.52393	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.1266:0.8073:0.0:0.0662	11.354	0.48841	828	0.39726	.;.;.;.;.;.;.	.	.	.	.	.	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	521.98	34	chr18	5419844	.	C	T	521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.035e+00;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.49;ReadPosRankSum=-1.779e+00;SOR=0.809	GT:AD:DP:GQ:PL	0/1:33,22:55:99:536,0,915	20	0	1	0
chr18	8784389	8784389	C	T	exonic	MTCL1	.	nonsynonymous SNV	MTCL1:NM_001378205:exon5:c.C2357T:p.S786L	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	1.0	D	0.965	D	0.001	N	1.000	D	2.4	M	1.38	T	-0.770	T	0.229	T	0.921	1.887	12.27	5.21	2.424	7.520	18.738	0.339	0.0554430523625	0.0010	.	0.0007	9.874e-05	0.0017	0	0.0005	0.0009	0	0.0002	0.0006727	104	154602	rs140267953	0.0011	0.0011	0.0011	0.0011	0.0019	0.0011	0.0010	0.0015	0.0014	0.0002	0.0019	4.891e-05	5.15e-05	0.0001	0.0007	0.0013	0.0012	0.0002	0.0006	0.0006	0.0007	0.0005	0.0009	0.0005	0.0004	0.0007	0.0006	0.0002	0	0.0008	0	0.0002	9.423e-05	0.0034	0.0009	0	0.0008	0.135	0.27426	T	0.286	0.21277	T	1.0	0.90584	D	0.965	0.71173	D	0.001094	0.40303	N	0.000000	1	0.81001	D	2.735	0.79925	M	1.38	0.34050	T	-2.56	0.55339	D	0.638	0.72746	-0.7702	0.56847	T	0.229	0.59447	T	10	0.07476428	0.11469	T	0.055443	0.66237	D	0.339	0.66106	.	.	0.364926071151	0.36103	0.44775024400207414	0.44693	0.4644567247	0.45918	0.595071077347	0.52208	T	0.178772	0.52954	T	-0.0604903	0.42832	T	0.121319	0.78323	D	0.0722034248801623	0.08957	T	0.940106	0.77861	D	0.15805231	0.35579	0.17213811	0.39446	0.15805231	0.35579	0.17213811	0.39446	-11.004	0.79680	D	.	.	0.166	0.52841	B	.;.;.;.	.;.;.;.	4.765192	0.77079	26.6	0.97691090299412864	0.35376	0.96836	0.71202	D	AEFDBCI	0.874945	0.79810	D	0.629603281964807	0.75056	6.238804	0.568050291393372	0.72661	5.845372	1.0	0.98316	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	7.607000	0.82085	7.580000	0.60937	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	0.0:1.0:0.0:0.0	18.738	0.91728	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	1794.98	75	chr18	8784389	.	C	T	1794.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=1754;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=-5.090e-01;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,66:127:99:0|1:8784372_A_G:1809,0,1464:8784372	20	0	1	0
chr18	9256605	9256605	G	A	exonic	ANKRD12	.	nonsynonymous SNV	ANKRD12:NM_001083625:exon8:c.G3269A:p.R1090Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.996	D	0.000	D	1.000	D	2.39	M	-0.47	T	0.150	D	0.557	D	0.542	4.317	22.6	5.23	2.448	7.609	18.804	0.364	0.091573005546	.	.	1.685e-05	0	0	0	0	3.063e-05	0	0	1.29e-05	2	154602	rs757332856	3.035e-05	3.147e-05	2.195e-05	3.885e-05	5.047e-05	2.301e-05	2.049e-05	2.461e-05	2.149e-05	0	0	0	5.047e-05	0	0	3.336e-05	5.013e-05	2.421e-05	1.973e-05	1.97e-05	1.286e-05	2.692e-05	2.941e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	2.415e-05	0	0	0	0	0	0	2.941e-05	0	0	0.012	0.54683	D	0.276	0.21947	T	1.0	0.90584	D	0.992	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.57	0.75187	M	-0.47	0.70133	T	-1.57	0.37955	N	0.648	0.65930	0.150	0.85053	D	0.557	0.83817	D	10	0.5233961	0.62771	D	0.091573	0.75731	D	0.364	0.68407	0.243	0.17677	0.714544253734	0.71204	0.031996254939635635	0.03147	.	.	0.429540157318	0.29145	T	0.206842	0.56631	T	0.0145268	0.53642	T	-0.104419	0.63053	T	0.855139553546906	0.50614	D	0.940206	0.77406	D	0.3623943	0.58018	0.22126174	0.46930	0.3623943	0.58019	0.22126174	0.46929	-1.467	0.01698	T	.	.	0.161	0.51376	B	.;.	.;.	4.521213	0.70884	25.6	0.99953557167309404	0.99963	0.98525	0.83712	D	AEFBHI	0.900351	0.84578	D	0.813573928901739	0.86949	9.05198	0.770350177137905	0.87669	9.302201	0.999999999999218	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.23	5.23	0.72570	7.728000	0.83805	9.969000	0.82849	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	18.804	0.91994	356	0.85138	.;.	.	.	.	.	.	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	915.98	34	chr18	9256605	.	G	A	915.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.449;DP=804;ExcessHet=0.0000;FS=0.880;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=0.031;SOR=0.552	GT:AD:DP:GQ:PL	0/1:41,35:76:99:930,0,1104	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	2|2:3,0,338:341:99:1|1:9887391_GGAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA_G:12246,13182,17860,982,1624,0:9887391	3	2	4	0
chr18	9887405	9887414	CCAAGGAGGG	0	exonic	TXNDC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	1542.09	520	chr18	9887405	.	CCAAGGAGGG	*,C	1542.09	.	AC=10,1;AF=0.333,0.033;AN=30;BaseQRankSum=2.72;DP=11648;ExcessHet=0.0338;FS=0.521;InbreedingCoeff=0.1429;MLEAC=12,1;MLEAF=0.400,0.033;MQ=59.72;MQRankSum=0.286;QD=0.42;ReadPosRankSum=0.423;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,338,0:341:99:1|1:9887391_GGAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA_G:12246,982,0,13182,1624,17860:9887391	7	3	4	6
chr18	9887406	9887414	CAAGGAGGG	-	exonic	TXNDC2	.	nonframeshift deletion	TXNDC2:NM_001098529:exon2:c.927_935del:p.K310_G312del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.676e-05	1.869e-05	1.541e-05	1.814e-05	5.184e-05	1.006e-05	7.98e-06	7.41e-06	5.4e-06	5.184e-05	0	0	3.629e-05	7.729e-05	0	1.466e-05	0	1.809e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	1542.09	520	chr18	9887405	.	CCAAGGAGGG	*,C	1542.09	.	AC=10,1;AF=0.333,0.033;AN=30;BaseQRankSum=2.72;DP=11648;ExcessHet=0.0338;FS=0.521;InbreedingCoeff=0.1429;MLEAC=12,1;MLEAF=0.400,0.033;MQ=59.72;MQRankSum=0.286;QD=0.42;ReadPosRankSum=0.423;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,338,0:341:99:1|1:9887391_GGAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA_G:12246,982,0,13182,1624,17860:9887391	7	3	4	6
chr18	9887415	9887434	TGACATCCCCAAGTCCCCAG	0	exonic	TXNDC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	1383.0	520	chr18	9887415	.	TGACATCCCCAAGTCCCCAG	*,T	1383.0	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=4.88;DP=13456;ExcessHet=0.8717;FS=0.518;InbreedingCoeff=-0.0096;MLEAC=15,1;MLEAF=0.395,0.026;MQ=59.70;MQRankSum=0.190;QD=0.26;ReadPosRankSum=0.247;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,338,0:341:99:1|1:9887391_GGAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA_G:12246,982,0,13182,1624,17860:9887391	7	3	8	2
chr18	9887416	9887434	GACATCCCCAAGTCCCCAG	-	exonic	TXNDC2	.	frameshift deletion	TXNDC2:NM_001098529:exon2:c.937_955del:p.D313Kfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.788e-06	8.288e-06	8.77e-06	6.777e-06	5.157e-05	3.24e-06	2.08e-06	2.14e-06	1.55e-06	5.157e-05	0	0	3.633e-05	0	0	7.303e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	1383.0	520	chr18	9887415	.	TGACATCCCCAAGTCCCCAG	*,T	1383.0	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=4.88;DP=13456;ExcessHet=0.8717;FS=0.518;InbreedingCoeff=-0.0096;MLEAC=15,1;MLEAF=0.395,0.026;MQ=59.70;MQRankSum=0.190;QD=0.26;ReadPosRankSum=0.247;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,338,0:341:99:1|1:9887391_GGAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA_G:12246,982,0,13182,1624,17860:9887391	7	3	8	2
chr18	12329645	12329645	G	A	exonic	AFG3L2	.	nonsynonymous SNV	AFG3L2:NM_006796:exon17:c.C2314T:p.L772F,	Spastic ataxia 5, autosomal recessive, Autosomal recessive;Spinocerebellar ataxia 28, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	211841	not_specified|not_provided|Spinocerebellar_ataxia_type_28|Spastic_ataxia_5	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246,Orphanet:101109|MONDO:MONDO:0013776,MedGen:C3280977,OMIM:614487,Orphanet:313772	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.07	T	1.0	D	1.0	D	0.000	D	1.000	D	2.85	M	-3.33	D	0.812	D	0.878	D	0.556	4.772	26.8	5.64	2.816	9.420	20.063	0.584	0.119087591298	0.0015	0.000798722	0.0018	0.0008	0.0003	0	0.0029	0.0026	0	0.0008	0.0017917	277	154602	rs117182113	0.0027	0.0027	0.0028	0.0026	0.0033	0.0026	0.0026	0.0032	0.0032	0.0007	0.0002	3.826e-05	0	0.0023	0	0.0033	0.0014	0.0006	0.0015	0.0015	0.0018	0.0013	0.0026	0.0014	0.0013	0.0023	0.0022	0.0006	0	6.54e-05	0	0	0.0022	0	0.0026	0.0005	0.0008	0.042	0.41637	D	0.11	0.37310	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.18	0.88827	M	-3.33	0.93928	D	-3.7	0.70553	D	0.548	0.57433	0.812	0.94560	D	0.878	0.95935	D	10	0.019837528	0.00448	T	0.119088	0.79930	D	0.584	0.83305	.	.	0.960376401545	0.95995	0.3995417082356818	0.39869	0.74875396502	0.63655	0.683334708214	0.64747	T	0.643389	0.89091	D	-0.0790054	0.39875	T	0.114691	0.77883	D	0.0523161474679431	0.05901	T	0.909009	0.67793	D	0.40293422	0.60935	0.2696299	0.52845	0.40293422	0.60936	0.2696299	0.52844	-10.99	0.79604	D	.	.	0.811	0.77821	P	.	.	5.342577	0.89640	31	0.9989384233832731	0.96742	0.98654	0.85187	D	AEFBCI	0.902060	0.84949	D	0.827967866864812	0.87822	9.352447	0.744475700703725	0.85744	8.67281	0.999999999999999	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.64	5.64	0.86480	9.602000	0.97623	11.825000	0.97352	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0:0.0:1.0:0.0	20.063	0.97683	690	0.58899	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	2339.98	34	chr18	12329645	.	G	A	2339.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.672;DP=1013;ExcessHet=0.0000;FS=2.280;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=0.723;SOR=0.819	GT:AD:DP:GQ:PL	0/1:130,97:227:99:2354,0,3263	20	0	1	0
chr18	14513766	14513766	G	A	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.C1429T:p.R477W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.267	B	0.005	B	.	.	1.000	N	0	N	1.61	T	-1.042	T	0.032	T	0.222	-0.939	0.361	1.38	1.049	2.099	6.135	0.026	0.00107483341731	.	.	2.988e-05	0	0	0	0	5.541e-05	0	0	6.5e-06	1	154602	rs762894153	2.882e-05	2.941e-05	3.413e-05	2.346e-05	6.023e-05	2.158e-05	1.914e-05	2.287e-05	2.024e-05	6.023e-05	2.265e-05	0	0	0	0	3.15e-05	6.656e-05	0	7.242e-05	7.227e-05	0.0001	4.045e-05	0.0005	3.979e-05	3.133e-05	0.0002	0.0002	7.261e-05	0	0.0005	0	0	0	0	1.471e-05	0	0	0.001	0.78490	D	0.004	0.74150	D	0.267	0.31683	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.61	0.28391	T	-1.17	0.29933	N	0.293	0.33140	-1.0420	0.16711	T	0.032	0.13767	T	9	0.11069617	0.20700	T	0.001075	0.01239	T	0.026	0.05648	0.348	0.34436	0.247322355667	0.24350	0.02917539624017158	0.02866	.	.	0.576120972633	0.49540	T	0.00622	0.05657	T	-0.358799	0.04198	T	-0.561484	0.16238	T	0.174936558845684	0.18909	T	0.723528	0.33695	T	0.065151855	0.13896	0.070568934	0.15008	0.065151855	0.13895	0.070568934	0.15008	-4.544	0.31460	T	.	.	0.088	0.11606	B	.	.	2.573448	0.33351	19.31	0.91129974575915917	0.20383	0.35002	0.25200	N	AEFI	0.088983	0.18037	N	-0.794206020537556	0.13461	0.6632361	-0.825207573442019	0.13884	0.7226912	2.85658274935916E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.38	1.38	0.21262	2.411000	0.44254	.	.	0.338000	0.19717	0.991000	0.37257	0.409000	0.24749	0.011000	0.09372	0.0:0.0:1.0:0.0	6.135	0.19446	940	0.13648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2653.98	35	chr18	14513766	.	G	A	2653.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.706;DP=1464;ExcessHet=0.0000;FS=0.495;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.72;MQRankSum=-1.197e+00;QD=12.06;ReadPosRankSum=2.23;SOR=0.736	GT:AD:DP:GQ:PL	0/1:111,109:220:99:2668,0,2651	20	0	1	0
chr18	25226824	25226824	A	C	exonic	ZNF521	.	nonsynonymous SNV	ZNF521:NM_001308225:exon3:c.T434G:p.V145G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.695	P	0.573	P	0.000	D	1.000	D	0.345	N	2.94	T	-0.977	T	0.030	T	0.884	1.535	11.09	6.17	2.371	8.962	16.822	0.335	0.0135202849145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.019	0.92824	D	0.695	0.41722	P	0.573	0.49966	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.525	0.38595	L	2.94	0.09728	T	-1.53	0.37178	N	0.692	0.72567	-0.9773	0.35616	T	0.030	0.12892	T	10	0.47668222	0.60185	T	0.01352	0.32986	T	0.335	0.65718	0.263	0.20788	0.187035705434	0.18338	0.4545498299786772	0.45372	1.22420468521	0.81160	0.805925130844	0.82866	D	0.200397	0.55797	T	0.175278	0.71608	D	0.0139978	0.71241	D	0.714181244373322	0.41406	D	0.940706	0.80370	D	0.48315653	0.66091	0.38600904	0.63504	0.48315653	0.66092	0.38600904	0.63504	-3.876	0.21943	T	.	.	0.571	0.76929	P	.;.;.	.;.;.	4.794367	0.77832	26.8	0.94618517603613461	0.25195	0.99159	0.92098	D	AEFBI	0.953510	0.96986	D	0.395754100277923	0.61191	4.316972	0.543447810257837	0.70943	5.580135	0.999999999999788	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.608884	0.39905	0	0.711	0.71501	0	.	.	6.17	6.17	0.99707	8.947000	0.92735	11.314000	0.92500	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.822	0.85699	899	0.25060	.;.;.	.	.	.	.	.	Uncertain significance	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	2134.98	36	chr18	25226824	.	A	C	2134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.85;DP=985;ExcessHet=0.0000;FS=3.468;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-7.240e-01;SOR=0.832	GT:AD:DP:GQ:PL	0/1:95,79:174:99:2149,0,2584	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	0/1:28,23:51:99:133,0,526	1	0	20	0
chr18	32192657	32192657	G	A	exonic	MEP1B	.	nonsynonymous SNV	MEP1B:NM_001308171:exon3:c.G94A:p.G32R	.	.	490	1030	2	0	0	2	0.000969932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.992	D	0.000	D	1.000	D	2.44	M	2.03	T	-0.920	T	0.155	T	0.588	3.623	18.43	5.42	2.533	7.310	17.979	0.283	0.0218401052029	.	.	3.314e-05	0.0001	0	0.0001	0	1.499e-05	0	6.058e-05	2.59e-05	4	154602	rs754005468	4.313e-05	4.378e-05	3.95e-05	4.678e-05	0.0002	3.445e-05	3.131e-05	2.996e-05	2.509e-05	5.98e-05	2.236e-05	0.0001	0	0	0.0002	3.779e-05	0.0001	6.96e-05	3.289e-05	3.284e-05	2.572e-05	4.041e-05	0.0002	1.262e-05	7.99e-06	8.01e-06	3e-06	4.831e-05	0	0	0.0006	0	0	0	0	0	0.0002	0.006	0.61437	D	0.013	0.63109	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.049335	0.999929	0.51308	D	3.36	0.91202	M	2.03	0.20959	T	-3.61	0.69477	D	0.832	0.91852	-0.9196	0.45608	T	0.155	0.48533	T	10	0.7622957	0.76438	D	0.02184	0.44662	T	0.283	0.60100	0.521	0.62368	0.680305041719	0.67758	0.799742484409743	0.79928	0.578456538044	0.53752	0.479656428099	0.36009	T	0.486445	0.81293	T	-0.144701	0.29145	T	-0.264102	0.48413	T	0.939750015735626	0.61147	D	0.930407	0.74231	D	0.5817905	0.71706	0.42563677	0.66366	0.5817905	0.71707	0.42563677	0.66366	-5.408	0.40996	T	.	.	0.443	0.61857	A	.;.	.;.	5.740207	0.93328	33	0.99912830244389261	0.98167	0.97317	0.73990	D	AEFBI	0.891619	0.82776	D	0.702985992963902	0.79829	7.160952	0.641875130514543	0.78006	6.790326	0.999815355406492	0.43459	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	7.851000	0.85233	11.658000	0.93956	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	17.979	0.89054	845	0.36510	Meprin peptidase domain;Meprin peptidase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1205.98	34	chr18	32192657	.	G	A	1205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=819;ExcessHet=0.0000;FS=1.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=-6.150e-01;SOR=0.507	GT:AD:DP:GQ:PL	0/1:67,50:117:99:1220,0,1606	20	0	1	0
chr18	36652664	36652664	G	A	exonic	FHOD3	.	nonsynonymous SNV	FHOD3:NM_001281740:exon12:c.G1381A:p.G461R,	.	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0117	0	0	0	0	0	0	0.0189	0.0010867	168	154602	rs563399170	0.0011	0.0010	0.0006	0.0016	0.0177	0.0010	0.0010	0.0170	0.0167	3.167e-05	2.802e-05	0	0	0	0.0007	1.483e-05	0.0010	0.0177	0.0006	0.0006	0.0003	0.0008	0.0176	0.0005	0.0004	0.0146	0.0135	0	0	0	0	0	0	0	0	0.0005	0.0176	.	.	.	0.543	0.09655	T	.	.	.	.	.	.	.	.	.	.	1	0.29029	N	.	.	.	1.51	0.30937	T	.	.	.	0.076	0.05037	.	.	.	.	.	.	.	0.003935039	0.00075	T	.	.	.	.	.	.	.	0.082315109003	0.07666	0.44422421194084744	0.44340	.	.	0.32412225008	0.14045	T	.	.	.	-0.415058	0.01841	T	-0.354042	0.38742	T	.	.	.	0.583442	0.21195	T	.	.	.	.	.	.	.	.	-3.705	0.19392	T	.	.	0.099	0.16713	B	.	.	2.431557	0.31284	18.69	0.65979139726230107	0.07926	0.75638	0.37044	D	AEFBI	0.245519	0.36644	N	.	.	.	.	.	.	0.9572867549786	0.28295	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.5	4.62	0.56946	3.156000	0.50406	7.297000	0.58075	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.085000	0.17524	0.0887:0.0:0.9113:0.0	10.707	0.45157	861	0.33516	.	.	.	.	.	.	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	929.98	33	chr18	36652664	.	G	A	929.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=961;ExcessHet=0.0000;FS=0.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=-3.260e-01;SOR=0.504	GT:AD:DP:GQ:PL	0/1:36,32:68:99:944,0,1105	20	0	1	0
chr18	43273924	43273924	C	T	exonic	SYT4	.	nonsynonymous SNV	SYT4:NM_020783:exon2:c.G505A:p.A169T,	.	.	436	1066	17	3	0	23	0.0106729	.	.	741358	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.49	T	0.759	P	0.193	B	0.000	N	1.000	D	0.275	N	3.17	T	-0.849	T	0.012	T	0.269	2.110	13.01	3.16	0.498	3.115	11.714	0.118	.	.	0.00359425	0.0023	9.688e-05	0.0006	0	0	0.0004	0.0022	0.0142	0.001934	299	154602	rs200418581	0.0010	0.0010	0.0006	0.0014	0.0126	0.0010	0.0009	0.0120	0.0118	2.987e-05	0.0011	0.0006	2.521e-05	5.618e-05	0.0068	0.0002	0.0013	0.0126	0.0009	0.0009	0.0006	0.0011	0.0126	0.0007	0.0007	0.0101	0.0092	0.0001	0	0.0022	0.0006	0	0	0.0102	0.0003	0.0033	0.0126	0.088	0.32296	T	0.199	0.27679	T	0.759	0.43487	P	0.193	0.36509	B	0.000001	0.84330	N	0.094256	1	0.81001	D	0.47	0.13106	N	3.17	0.07599	T	-2.6	0.55983	D	0.251	0.28381	-0.8488	0.52051	T	0.012	0.04558	T	10	0.007933378	0.00180	T	.	.	.	0.118	0.32913	.	.	0.33835085245	0.33439	0.5888931291434116	0.58819	0.265606145851	0.29113	0.464711070061	0.33955	T	0.194227	0.54994	T	-0.543455	0.00319	T	-0.541736	0.18126	T	0.0338073278630554	0.02604	T	0.774123	0.42343	T	0.23277618	0.46070	0.2432143	0.49760	0.23277618	0.46070	0.2432143	0.49758	-7.445	0.57222	T	.	.	0.377	0.69653	A	.;.	.;.	2.924898	0.38838	20.8	0.97077810241835594	0.32268	0.95618	0.65444	D	AEFBI	.	.	.	-0.280176094789357	0.29914	1.663	-0.155317752507187	0.33205	1.896954	0.0100621963047524	0.11960	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.87	3.16	0.35406	3.214000	0.50863	1.791000	0.28799	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.8085:0.0:0.1915	11.714	0.50907	801	0.44448	Synaptotagmin|C2 domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1235.98	34	chr18	43273924	.	C	T	1235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.068;DP=791;ExcessHet=0.0000;FS=0.710;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=0.866;SOR=0.821	GT:AD:DP:GQ:PL	0/1:66,49:115:99:1250,0,1762	20	0	1	0
chr18	46507646	46507646	G	A	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001145473:exon4:c.C301T:p.R101W	Deafness, autosomal recessive 77, Autosomal recessive	.	0	1501	21	0	0	21	0.00694674	.	.	230917	not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_77|not_provided	MedGen:CN169374|MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.627	P	.	.	0.892	N	1.04	L	1.53	T	-1.040	T	0.079	T	0.378	1.445	10.77	1.9	0.531	1.170	11.523	0.154	0.0221032658502	0.0004	.	0.0008	0	0	0	0	0.0005	0.0042	0.0016	0.0001423	22	154602	rs201994383	0.0002	0.0002	0.0002	0.0003	0.0039	0.0002	0.0002	0.0026	0.0022	0.0002	2.801e-05	0.0005	0	8.118e-05	0.0039	0.0001	0.0004	0.0015	0.0001	0.0001	8.995e-05	0.0002	0.0008	9.739e-05	8.254e-05	0.0003	0.0002	7.217e-05	0	6.537e-05	0.0017	0.0002	0.0002	0	7.35e-05	0	0.0008	0.013	0.59928	D	0.02	0.62352	D	0.997	0.70673	D	0.627	0.51631	P	.	.	.	.	0.934216	0.27867	N	.	.	.	1.53	0.30401	T	-3.29	0.68532	D	0.241	0.33250	-1.0401	0.17283	T	0.079	0.31526	T	9	0.03621626	0.01909	T	0.022103	0.44952	T	0.154	0.40340	.	.	0.3085936734	0.30458	0.6855143700331494	0.68490	.	.	0.437417447567	0.30224	T	0.058536	0.30868	T	-0.440209	0.01290	T	-0.440485	0.28755	T	0.0933339290138825	0.11608	T	0.922708	0.71908	D	0.14633803	0.33504	0.16563064	0.38306	0.119899414	0.28223	0.18794675	0.42055	-7.176	0.57912	T	.	.	0.136	0.44201	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.024683	0.59468	24.1	0.93081625396445433	0.22701	0.79935	0.39711	D	AEFBI	0.782590	0.71383	D	-0.0194139625491323	0.40977	2.44293	-0.0100512462407786	0.39260	2.325097	0.00389632127999663	0.10327	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.21	1.9	0.24770	1.211000	0.31987	0.417000	0.18177	0.504000	0.22967	1.000000	0.71638	0.402000	0.24716	0.996000	0.76049	0.0:0.0955:0.4753:0.4292	11.523	0.49814	945	0.12563	.;PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1765.98	35	chr18	46507646	.	G	A	1765.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.700e-02;DP=891;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.15;ReadPosRankSum=0.682;SOR=0.659	GT:AD:DP:GQ:PL	0/1:114,79:193:99:1780,0,2805	20	0	1	0
chr18	53157503	53157503	G	A	exonic	DCC	.	nonsynonymous SNV	DCC:NM_005215:exon8:c.G1409A:p.G470D,	Colorectal cancer, somatic;Esophageal carcinoma, somatic;Mirror movements 1, Autosomal dominant	.	1	1516	5	0	0	5	0.00164636	.	.	185695	Mirror_movements_1|Amenorrhea|not_provided	MONDO:MONDO:0008002,MedGen:C1834870,OMIM:157600,Orphanet:238722|Human_Phenotype_Ontology:HP:0000141,MONDO:MONDO:0001836,MedGen:C0002453|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	0.72	P	0.775	P	0.000	D	1.000	D	1.925	M	0.39	T	-0.642	T	0.230	T	0.837	3.021	16.08	5.4	2.546	7.067	17.966	0.344	0.0186963007183	0.0046	0.000798722	0.0032	0.0008	0.0010	0.0001	0.0021	0.0052	0.0066	6.061e-05	0.0032276	499	154602	rs141813053	0.0043	0.0043	0.0045	0.0042	0.0052	0.0042	0.0042	0.0051	0.0051	0.0007	0.0012	0.0008	2.519e-05	0.0023	0.0031	0.0052	0.0041	0.0001	0.0029	0.0029	0.0032	0.0027	0.0052	0.0027	0.0026	0.0047	0.0046	0.0010	0	0.0014	0	0	0.0022	0.0034	0.0052	0.0024	0.0010	0.001	0.78490	D	0.003	0.76473	D	0.72	0.42342	P	0.775	0.57058	P	0.000001	0.84330	D	0.000000	0.999916	0.53665	D	1.74	0.45129	L	0.39	0.57419	T	-4.79	0.80595	D	0.662	0.69825	-0.6421	0.63056	T	0.230	0.59521	T	10	0.009430081	0.00213	T	0.018696	0.40848	T	0.344	0.66582	.	.	0.819190257506	0.81748	0.49064139777321825	0.48984	0.271221807874	0.29642	0.600528478622	0.52979	T	0.355735	0.72269	T	-0.116387	0.33715	T	0.0630708	0.74449	D	0.0460880255931831	0.04800	T	0.948305	0.80601	D	0.8650983	0.88477	0.88993573	0.94262	0.854984	0.87708	0.9052229	0.95349	-8.518	0.64548	D	.	.	0.245	0.47976	B	.;.;.	.;.;.	4.364282	0.67135	25.1	0.9731862044675279	0.33365	0.98425	0.82644	D	AEFI	0.866774	0.78631	D	0.380686620629782	0.60376	4.225858	0.484920809019952	0.66990	5.024568	0.999012098707405	0.38212	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.4	5.4	0.77957	7.294000	0.78101	9.919000	0.82489	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.966	0.89020	643	0.63827	Fibronectin type III|Fibronectin type III|Fibronectin type III|Immunoglobulin subtype|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Immunoglobulin subtype|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Immunoglobulin subtype|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1532.98	34	chr18	53157503	.	G	A	1532.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.286;DP=858;ExcessHet=0.0000;FS=1.562;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.33;ReadPosRankSum=0.436;SOR=0.519	GT:AD:DP:GQ:PL	0/1:57,58:115:99:1547,0,1483	20	0	1	0
chr18	63318540	63318540	C	T	exonic	BCL2	.	nonsynonymous SNV	BCL2:NM_000633:exon2:c.G127A:p.A43T	Leukemia/lymphoma, B-cell	.	0	1490	31	1	0	33	0.0109525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.994	D	0.664	P	0.585	U	0.999	N	0.55	N	3.66	T	-0.983	T	0.001	T	0.099	0.282	5.526	1.57	0.127	0.209	7.734	0.064	.	0.0007	0.0397364	0.0190	0.0015	0.0005	0.0904	0	0.0003	0.0099	0.0917	0.0160153	2476	154602	rs1800477	0.0071	0.0073	0.0050	0.0093	0.0790	0.0070	0.0070	0.0774	0.0768	0.0004	0.0006	0	0.0681	2.097e-05	0.0032	0.0002	0.0128	0.0790	0.0068	0.0068	0.0052	0.0085	0.0896	0.0064	0.0063	0.0828	0.0802	0.0015	0	0.0029	0	0.0896	0.0002	0	0.0002	0.0128	0.0868	0.686	0.04353	T	0.672	0.07766	T	0.994	0.66517	D	0.664	0.52930	P	0.584839	0.05557	U	1.321060	0.999483	0.21117	N	0.975	0.24501	L	3.66	0.04228	T	-0.28	0.11547	N	0.018	0.00407	-0.9828	0.34351	T	0.001	0.00318	T	10	0.0017367601	0.00022	T	.	.	.	0.064	0.18567	.	.	.	.	0.3542840710471905	0.35342	0.850350720984	0.68505	0.56729799509	0.48295	T	0.372533	0.73670	T	-0.710834	0.00032	T	-0.716363	0.04974	T	0.0035515613756084	0.00038	T	0.49985	0.15613	T	0.028242368	0.02132	0.052725133	0.08743	0.028242368	0.02131	0.052725133	0.08742	-4.715	0.33585	T	.	.	0.067	0.03266	B	.;.;.	.;.;.	0.909965	0.12842	9.357	0.98120820459476421	0.38432	0.02731	0.07400	N	AEFDBHCI	0.062385	0.11989	N	-0.851366503132075	0.12016	0.5832008	-0.916413075350327	0.11707	0.5980686	0.999999744067704	0.74766	0.455138	0.09556	0	0.52208	0.09955	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	4.33	1.57	0.22490	-0.025000	0.12361	-0.771000	0.07495	-0.254000	0.07082	0.009000	0.18154	0.013000	0.20296	0.002000	0.04165	0.0:0.6723:0.0:0.3277	7.734	0.27969	874	0.30607	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3534.11	35	chr18	63318540	.	C	T	3534.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.567;DP=919;ExcessHet=0.1072;FS=3.812;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.30;ReadPosRankSum=-1.050e-01;SOR=0.474	GT:AD:DP:GQ:PL	0/1:62,80:142:99:2115,0,1404	19	0	2	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|1:52,27:79:99:0|1:65824683_C_G:286,0,1045:65824683	0	0	20	1
chr18	69599445	69599445	C	T	exonic	DOK6	.	nonsynonymous SNV	DOK6:NM_152721:exon3:c.C236T:p.A79V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	1.0	D	1.0	D	0.000	D	1.000	D	1.935	M	-0.87	T	-0.197	T	0.544	D	0.765	4.653	25.6	5.91	2.802	7.786	19.287	0.482	0.218671412093	0.0021	0.000599042	0.0023	0.0004	0.0004	0	0.0036	0.0035	0	0.0011	0.0023415	362	154602	rs140434706	0.0024	0.0024	0.0025	0.0023	0.0027	0.0024	0.0023	0.0027	0.0026	0.0004	0.0004	0.0032	0	0.0034	0	0.0027	0.0020	0.0009	0.0018	0.0018	0.0020	0.0017	0.0028	0.0016	0.0016	0.0025	0.0024	0.0005	0	0.0005	0.0046	0	0.0035	0	0.0028	0.0005	0.0004	0.012	0.54683	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000009	0.62929	D	0.111009	1	0.81001	D	2.19	0.61577	M	-0.87	0.74583	T	-2.72	0.57920	D	0.86	0.85660	-0.1972	0.77743	T	0.544	0.83237	D	10	0.097052634	0.17451	T	0.218671	0.87670	D	0.482	0.77206	.	.	0.868088311468	0.86681	0.6854584183201249	0.68484	1.20013741899	0.80515	0.843580663204	0.88640	D	0.133043	0.46349	T	-0.129557	0.31567	T	0.0390187	0.72864	D	0.022445248439908	0.00959	T	0.940606	0.77652	D	0.31609327	0.54307	0.24892	0.50453	0.31609327	0.54308	0.24892	0.50452	-8.119	0.61879	D	.	.	0.975	0.90154	P	.	.	5.129448	0.85831	28.7	0.99913969856457574	0.98238	0.98584	0.84372	D	AEFGI	0.946421	0.95586	D	0.6810050895877	0.78387	6.861523	0.667707085543511	0.79936	7.188886	0.999999997442914	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.91	5.91	0.95240	7.876000	0.85623	7.515000	0.59676	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.392000	0.26603	0.0:1.0:0.0:0.0	19.287	0.94064	955	0.09969	Pleckstrin homology domain|DOK4/5/6, PH 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	966.98	36	chr18	69599445	.	C	T	966.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.994;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=1.28;SOR=0.752	GT:AD:DP:GQ:PL	0/1:43,40:83:99:981,0,994	20	0	1	0
chr18	70020730	70020730	C	A	exonic	RTTN	.	nonsynonymous SNV	RTTN:NM_001318520:exon44:c.G3302T:p.C1101F	Microcephaly, short stature, and polymicrogyria with seizures, Autosomal recessive	.	9	1472	39	2	0	43	0.0143957	.	.	135637	not_provided|RTTN-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.989	D	0.689	P	0.028	N	0.545	D	1.79	L	0.66	T	-0.619	T	0.136	T	0.585	2.332	13.75	6.07	2.890	1.913	10.571	0.171	.	0.0061	0.00419329	0.0071	0.0015	0.0046	0	0.0008	0.0085	0.0033	0.0128	0.0068563	1060	154602	rs145976466	0.0079	0.0079	0.0078	0.0081	0.0206	0.0078	0.0078	0.0176	0.0165	0.0017	0.0047	0.0046	5.039e-05	0.0019	0.0206	0.0085	0.0067	0.0129	0.0054	0.0054	0.0053	0.0054	0.0084	0.0051	0.0050	0.0078	0.0076	0.0012	0.0197	0.0077	0.0037	0	0.0009	0.0034	0.0084	0.0043	0.0070	0.03	0.45393	D	0.032	0.53426	D	0.989	0.62824	D	0.689	0.53736	P	0.027691	0.25717	N	0.454682	0.544657	0.32083	D	1.95	0.52479	M	0.66	0.52416	T	-1.77	0.41809	N	0.369	0.41063	-0.6193	0.64018	T	0.136	0.45068	T	10	0.005443305	0.00120	T	.	.	.	0.171	0.43483	.	.	0.510230903827	0.50662	0.30996790440081773	0.30909	0.167520044428	0.18895	0.308870136738	0.11737	T	0.139244	0.47317	T	-0.365889	0.03808	T	-0.287319	0.46051	T	0.00781058271793566	0.00092	T	0.835416	0.52437	T	0.12677795	0.29686	0.09754753	0.23223	0.10329817	0.24415	0.11255301	0.27158	-2.083	0.03512	T	0.5437217846477904	0.61307	0.209	0.43640	B	.;.;.	.;.;.	2.770700	0.36367	20.2	0.98568032777208736	0.43063	0.58772	0.30732	D	AEFGBI	0.235831	0.35837	N	0.419131343728332	0.62475	4.463965	0.404103181547507	0.61821	4.387615	0.999810614893077	0.43459	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	6.07	6.07	0.98675	1.717000	0.37612	4.040000	0.41416	0.599000	0.40250	0.174000	0.23986	0.999000	0.35428	0.555000	0.30293	0.0:0.8541:0.0:0.1459	10.571	0.44388	981	0.03995	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2599.11	105	chr18	70020730	.	C	A	2599.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.966;DP=877;ExcessHet=0.1072;FS=1.100;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=0.643;SOR=0.604	GT:AD:DP:GQ:PL	0/1:51,46:97:99:1081,0,1438	19	0	2	0
chr18	76871805	76871805	G	A	exonic	ZNF236	.	nonsynonymous SNV	ZNF236:NM_001306089:exon5:c.G647A:p.R216Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	1.0	D	1.0	D	0.000	D	1.000	D	0.685	N	3.21	T	-1.067	T	0.044	T	0.859	5.729	36	5.41	2.697	9.195	19.558	0.343	0.0312930513363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.35349	T	0.13	0.40909	T	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	0.999721	0.48557	D	1.375	0.34280	L	3.21	0.07125	T	-2.27	0.50666	N	0.658	0.74189	-1.0670	0.10085	T	0.044	0.18742	T	10	0.611385	0.67464	D	0.031293	0.53414	D	0.343	0.66488	0.326	0.30873	0.617700868142	0.61461	0.7051329713185432	0.70455	1.75645652472	0.91059	0.865527391434	0.91923	D	0.021122	0.21970	T	0.130581	0.67417	D	-0.0502054	0.67008	D	0.995959937572479	0.88384	D	0.573543	0.20534	T	0.24691851	0.47665	0.23958246	0.49311	0.24691851	0.47665	0.23958246	0.49310	-12.355	0.86537	D	.	.	0.996	0.95886	P	.;.;.	.;.;.	5.281287	0.88677	29.7	0.9995409775739692	0.99963	0.99164	0.92173	D	AEFGBI	0.701504	0.65818	D	0.593173592780897	0.72749	5.854757	0.615261586583719	0.76047	6.419701	0.99999999999901	0.74766	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.41	5.41	0.78313	9.303000	0.95269	11.560000	0.93225	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.558	0.95353	844	0.36711	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1728.98	33	chr18	76871805	.	G	A	1728.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.706e+00;DP=860;ExcessHet=0.0000;FS=1.927;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.23;ReadPosRankSum=-3.410e-01;SOR=0.535	GT:AD:DP:GQ:PL	0/1:93,76:169:99:1743,0,2356	20	0	1	0
chr18	78993756	78993756	G	A	exonic	SALL3	.	nonsynonymous SNV	SALL3:NM_171999:exon2:c.G1765A:p.G589S,	.	.	424	1091	7	0	0	7	0.00319781	.	.	2289656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.86	T	0.031	B	0.005	B	0.534	N	1.000	N	0.42	N	3.13	T	-0.918	T	0.010	T	0.036	0.043	4.236	-5.06	-1.018	0.185	9.551	0.041	0.00406883928449	0.0003	.	0.0004	0.0003	0.0003	0	0	0.0004	0.0028	0.0006	0.0002781	43	154602	rs201685558	0.0003	0.0004	0.0003	0.0004	0.0101	0.0003	0.0003	0.0080	0.0073	0.0002	0.0003	0.0061	0	2.821e-05	0.0101	0.0002	0.0006	0.0003	0.0003	0.0003	0.0004	0.0003	0.0004	0.0003	0.0002	0.0003	0.0002	4.813e-05	0	0	0.0055	0	0	0.0069	0.0004	0.0009	0	0.214	0.19361	T	0.245	0.24054	T	0.031	0.20130	B	0.005	0.11217	B	0.533783	0.11610	N	0.763765	0.999999	0.08975	N	-1.2	0.00838	N	3.41	0.08014	T	-0.87	0.23590	N	0.103	0.08646	-0.9183	0.45783	T	0.010	0.03811	T	10	0.0055042505	0.00121	T	0.004069	0.09712	T	0.041	0.10877	.	.	0.159798565429	0.15598	0.2314740132454767	0.23062	0.396343119788	0.40747	0.301038324833	0.10556	T	0.009611	0.31775	T	-0.626802	0.00100	T	-0.820061	0.01451	T	0.00850617734607194	0.00103	T	0.534247	0.18433	T	0.03047809	0.02717	0.03903203	0.03904	0.03047809	0.02717	0.03903203	0.03904	-3.553	0.17281	T	.	.	0.069	0.03811	B	.;.;.;.	.;.;.;.	-0.939943	0.00860	0.030	0.7060978654425375	0.09352	0.07657	0.13664	N	AEFDBCI	0.099006	0.19938	N	-1.36177989733513	0.03004	0.1335407	-1.41320992036218	0.03119	0.1448856	0.997570755561613	0.35775	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.2	-5.06	0.02725	0.355000	0.19902	-5.307000	0.01768	-0.693000	0.04107	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.6146:0.0975:0.2878:0.0	9.551	0.38473	.	.	.;.;.;.	.	.	.	.	.	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	3025.11	87	chr18	78993756	.	G	A	3025.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.84;DP=2189;ExcessHet=0.1072;FS=4.891;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=-6.140e-01;SOR=0.886	GT:AD:DP:GQ:PL	0/1:85,61:146:99:1523,0,2054	19	0	2	0
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	0/1:26,21:47:99:.:.:154,0,312	0	0	10	11
chr18	80135669	80135669	A	G	exonic	ADNP2	.	nonsynonymous SNV	ADNP2:NM_014913:exon4:c.A256G:p.T86A,	.	.	428	1070	23	1	0	25	0.0115473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	B	0.006	B	0.001	N	0.999	N	0.69	N	-0.56	T	-1.045	T	0.111	T	0.109	1.833	12.09	0.754	0.196	1.412	5.379	0.042	.	0.0074	0.00419329	0.0080	0.0023	0.0016	0.0001	0.0015	0.0105	0.0033	0.0126	0.0081629	1262	154602	rs78503084	0.0099	0.0099	0.0099	0.0098	0.0121	0.0097	0.0097	0.0115	0.0113	0.0014	0.0022	0.0043	0.0001	0.0012	0.0061	0.0113	0.0074	0.0121	0.0060	0.0060	0.0064	0.0056	0.0100	0.0057	0.0055	0.0094	0.0092	0.0018	0	0.0046	0.0049	0.0002	0.0009	0.0204	0.0100	0.0043	0.0087	0.258	0.22312	T	0.281	0.21812	T	0.002	0.09854	B	0.006	0.12133	B	0.001441	0.39044	N	0.176600	0.998761	0.21926	N	1.95	0.52479	M	-0.56	0.71187	T	-0.86	0.30555	N	0.117	0.10626	-1.0448	0.15884	T	0.111	0.39841	T	9	0.0057888627	0.00129	T	.	.	.	0.042	0.11227	.	.	0.779458332734	0.77742	0.2235045365781122	0.22265	0.167435334845	0.18892	0.461018890142	0.33450	T	0.062028	0.31809	T	-0.497291	0.00592	T	-0.473475	0.25142	T	0.00325881748550906	0.00034	T	0.622038	0.23930	T	0.035229754	0.04107	0.03994675	0.04207	0.035229754	0.04107	0.03994675	0.04206	-4.872	0.35419	T	.	.	0.068	0.04396	B	.;.;.	.;.;.	0.943702	0.13196	9.696	0.9386628470318541	0.23874	0.71055	0.34850	D	AEFGBCI	0.069104	0.13663	N	-0.703779194922765	0.15915	0.8063367	-0.572165070206045	0.20220	1.088397	0.893579851091107	0.25909	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.17	0.754	0.17558	0.874000	0.27715	2.696000	0.34125	-0.089000	0.16174	0.003000	0.16062	0.947000	0.28924	0.812000	0.38265	0.5114:0.0:0.1409:0.3477	5.379	0.15483	.	.	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	0.04762	2702.11	34	chr18	80135669	.	A	G	2702.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.06;DP=917;ExcessHet=0.1072;FS=1.091;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=0.101;SOR=0.797	GT:AD:DP:GQ:PL	0/1:62,49:111:99:1285,0,1700	19	0	2	0
chr18	80138370	80138370	G	A	exonic	ADNP2	.	nonsynonymous SNV	ADNP2:NM_014913:exon4:c.G2957A:p.G986E,	.	.	435	1075	12	0	0	12	0.00555042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.961	D	0.75	P	0.000	D	1.000	N	1.61	L	.	.	-1.030	T	0.102	T	0.438	-0.776	0.743	3.82	1.183	3.555	8.098	0.124	.	0.0072	0.00299521	0.0071	0.0021	0.0013	0.0001	0.0015	0.0103	0.0011	0.0077	0.0073285	1133	154602	rs75868400	0.0094	0.0094	0.0096	0.0092	0.0111	0.0092	0.0092	0.0109	0.0109	0.0013	0.0019	0.0043	5.038e-05	0.0012	0.0038	0.0111	0.0069	0.0074	0.0057	0.0057	0.0062	0.0051	0.0097	0.0053	0.0052	0.0091	0.0089	0.0017	0	0.0042	0.0049	0	0.0009	0.0102	0.0097	0.0038	0.0054	0.452	0.08943	T	0.053	0.47336	T	0.961	0.55431	D	0.75	0.56031	P	0.000090	0.51296	D	0.000000	0.999999	0.08975	N	2.125	0.59049	M	.	.	.	-1.54	0.37375	N	0.199	0.21969	-1.0296	0.20583	T	0.102	0.37793	T	8	0.004585892	0.00095	T	.	.	.	0.124	0.34239	.	.	0.784103650021	0.78211	0.11264781931675674	0.11193	0.790937262654	0.65775	0.505969882011	0.39659	T	0.049565	0.28344	T	-0.392373	0.02597	T	-0.32342	0.42198	T	0.019233517373136	0.00629	T	0.681532	0.29028	T	0.061499324	0.12741	0.07782605	0.17375	0.061499324	0.12741	0.07782605	0.17375	-2.606	0.06549	T	.	.	0.113	0.22464	B	.	.	2.095400	0.26658	17.19	0.83447692219610303	0.14731	0.91738	0.54158	D	AEFDBCI	0.237945	0.36014	N	-0.0832294002044983	0.38127	2.22839	-0.187935779817644	0.31978	1.814909	0.998306039354046	0.36726	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.7	3.82	0.43153	1.110000	0.30761	4.319000	0.42992	-0.153000	0.12021	0.796000	0.29669	1.000000	0.68203	0.001000	0.02609	0.0:0.3022:0.5178:0.18	8.098	0.30001	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1280.98	39	chr18	80138370	.	G	A	1280.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.953;DP=950;ExcessHet=0.0000;FS=3.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=-1.202e+00;SOR=1.067	GT:AD:DP:GQ:PL	0/1:47,51:98:99:1295,0,1155	20	0	1	0
chr19	501743	501743	-	CCCGACACCACCTCCCAGGAGC	exonic	MADCAM1	.	frameshift insertion	MADCAM1:NM_130760:exon4:c.742_743insCCCGACACCACCTCCCAGGAGC:p.P249Rfs*53,	.	.	978	231	47	127	139	440	0.394495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0007	0.0002	0.0008	0	0.0002	0	0	6.5e-06	1	154602	.	0.0056	0.0059	0.0048	0.0063	0.0110	0.0054	0.0054	0.0102	0.0099	0.0025	0.0092	0.0049	0.0104	0.0032	0.0024	0.0048	0.0059	0.0110	0.0062	0.0070	0.0061	0.0063	0.0266	0.0057	0.0055	0.0217	0.0198	0.0045	0.0050	0.0046	0.0039	0.0266	0.0078	0.0165	0.0058	0.0090	0.0049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	46021.53	35	chr19	501743	.	T	TCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC,C,TCCCGACACCACCTCCCAGGAGC	46021.53	.	AC=29,4,1;AF=0.690,0.095,0.024;AN=42;BaseQRankSum=-6.390e-01;DP=1856;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=29,4,1;MLEAF=0.690,0.095,0.024;MQ=58.52;MQRankSum=-7.810e-01;QD=29.75;ReadPosRankSum=-1.790e+00;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,68,0,0:68:99:.:.:2774,197,0,2780,203,2787,2780,203,2787,2787	1	10	5	0
chr19	830768	830768	G	A	exonic	AZU1	.	nonsynonymous SNV	AZU1:NM_001700:exon4:c.G421A:p.A141T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.994	D	0.552	P	.	.	1.000	N	0.99	L	-2.52	D	-0.521	T	0.396	T	0.277	-0.464	1.854	-0.857	-0.175	-0.027	2.156	0.268	0.0829172655304	0.0018	0.00219649	0.0007	0.0069	0.0004	0.0001	0	7.896e-05	0	6.686e-05	0.0005757	89	154602	rs28664760	0.0003	0.0003	0.0003	0.0003	0.0062	0.0003	0.0003	0.0055	0.0053	0.0062	0.0004	0	2.52e-05	0	0.0005	0.0001	0.0005	9.288e-05	0.0020	0.0020	0.0021	0.0019	0.0070	0.0018	0.0018	0.0064	0.0061	0.0070	0	0.0006	0	0	0	0	0.0001	0	0	0.574	0.06106	T	0.462	0.12526	T	0.994	0.66517	D	0.552	0.49293	P	.	.	.	.	1	0.08975	N	0.37	0.12060	N	-2.52	0.89363	D	-1.11	0.28703	N	0.09	0.11054	-0.5213	0.67866	T	0.396	0.74836	T	9	0.00537917	0.00118	T	0.082917	0.74005	D	0.268	0.58254	.	.	0.809066763523	0.80727	0.6808871234300298	0.68027	0.2127558496	0.23780	0.478011310101	0.35783	T	0.189471	0.54371	T	-0.379956	0.03118	T	-0.312725	0.43365	T	0.014062140385638	0.00273	T	.	.	.	0.061105035	0.12615	0.07059924	0.15018	0.061105035	0.12614	0.07059924	0.15018	-4.299	0.28163	T	.	.	0.079	0.10449	B	.;.	.;.	1.345160	0.17522	13.21	0.5726655315523661	0.05732	0.03142	0.08099	N	AEFBCI	0.031302	0.03314	N	-0.824049028336957	0.12697	0.6205701	-1.06456135479495	0.08406	0.4131875	6.10574882283381E-4	0.07437	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	1.6	-0.857	0.10151	-0.087000	0.11181	-0.262000	0.10418	0.552000	0.28158	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.2028:0.0:0.4941:0.3032	2.156	0.03579	994	0.00715	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2210.98	36	chr19	830768	.	G	A	2210.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=1049;ExcessHet=0.0000;FS=4.787;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=1.22;SOR=0.458	GT:AD:DP:GQ:PL	0/1:131,92:223:99:2225,0,3296	20	0	1	0
chr19	2252627	2252627	C	T	exonic	JSRP1	.	nonsynonymous SNV	JSRP1:NM_144616:exon7:c.G698A:p.R233Q,	.	.	406	1115	1	0	0	1	0.000448229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.036	B	0.011	B	0.241	N	1.000	N	0.805	L	2.26	T	-1.006	T	0.007	T	0.01	1.047	9.274	-6.14	-0.504	-1.563	0.648	0.030	.	0.0098	0.00858626	0.0029	0.0339	0.0011	0	0	0.0001	0.0034	0	0.0027425	424	154602	rs35356610	0.0010	0.0010	0.0011	0.0009	0.0358	0.0010	0.0009	0.0341	0.0334	0.0358	0.0012	0	2.519e-05	0	0.0038	6.745e-05	0.0019	1.159e-05	0.0087	0.0088	0.0091	0.0084	0.0304	0.0084	0.0082	0.0290	0.0284	0.0304	0	0.0025	0	0	0	0	0.0002	0.0085	0	0.064	0.36509	T	0.536	0.09897	T	0.036	0.20732	B	0.011	0.15521	B	0.240917	0.03582	N	1.616360	1	0.08975	N	0.46	0.12951	N	2.26	0.17596	T	-0.76	0.21215	N	0.033	0.00882	-1.0057	0.28247	T	0.007	0.02598	T	10	0.00228253	0.00033	T	.	.	.	0.030	0.07022	.	.	0.166414681773	0.16258	0.028311002177944185	0.02781	0.777335084149	0.65105	0.315681219101	0.12767	T	0.038492	0.24860	T	-0.771028	0.00013	T	-0.855237	0.00896	T	0.00157285857285857	0.00016	T	0.523848	0.17156	T	0.025876632	0.01576	0.05834571	0.10766	0.025876632	0.01576	0.05834571	0.10765	-4.957	0.36370	T	.	.	0.130	0.27880	B	.	.	0.630882	0.09991	6.747	0.91045953654635314	0.20297	0.01986	0.06001	N	AEFDBCI	0.082559	0.16718	N	-1.72032196189537	0.00772	0.03335276	-1.80001690312726	0.00759	0.03384212	0.999995772069212	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	4.17	-6.14	0.01931	-2.707000	0.00891	-1.600000	0.05086	-1.295000	0.01250	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2722:0.2352:0.2781:0.2146	0.648	0.00770	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	970.98	34	chr19	2252627	.	C	T	970.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.19;DP=796;ExcessHet=0.0000;FS=4.017;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=-1.111e+00;SOR=1.049	GT:AD:DP:GQ:PL	0/1:52,39:91:99:985,0,1197	20	0	1	0
chr19	2939269	2939291	CACCACCCTTACCCAAGGAGGCA	0	exonic	ZNF77	.	.	.	.	.	542	911	21	2	46	71	0.0135355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1384.19	45	chr19	2939269	.	CACCACCCTTACCCAAGGAGGCA	*,C	1384.19	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=2.05;DP=2044;ExcessHet=0.0082;FS=4.200;InbreedingCoeff=0.4474;MLEAC=3,1;MLEAF=0.071,0.024;MQ=59.54;MQRankSum=4.48;QD=2.58;ReadPosRankSum=-2.704e+00;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:129,88,0:217:99:.:.:2347,0,4273,2736,4542,7277	18	0	2	0
chr19	3762773	3762773	G	A	exonic	MRPL54	.	nonsynonymous SNV	MRPL54:NM_172251:exon1:c.G73A:p.A25T,	.	.	426	1087	9	0	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.066	B	0.004	B	0.096	N	1.000	N	0.805	L	.	.	-1.023	T	0.069	T	0.062	2.802	15.33	-1.07	-0.019	-0.091	2.355	0.023	.	0.0002	0.00339457	0.0020	0	8.672e-05	0	0.0002	0.0002	0.0034	0.0138	0.0016235	251	154602	rs142303315	0.0009	0.0009	0.0005	0.0012	0.0127	0.0008	0.0008	0.0121	0.0118	3.028e-05	0	0	0	1.908e-05	0.0019	7.575e-05	0.0010	0.0127	0.0005	0.0005	0.0003	0.0007	0.0135	0.0004	0.0004	0.0108	0.0099	4.81e-05	0	0	0	0.0002	9.414e-05	0	0.0001	0.0009	0.0135	0.107	0.29554	T	0.21	0.26714	T	0.066	0.23586	B	0.004	0.10090	B	0.095915	0.02501	N	1.952730	1	0.08975	N	1.545	0.39105	L	.	.	.	-0.54	0.16598	N	0.063	0.03502	-1.0227	0.22834	T	0.069	0.28147	T	9	0.00318861	0.00054	T	.	.	.	0.023	0.04649	.	.	0.0716867268079	0.06686	0.17577268516966726	0.17496	0.148584724531	0.16762	0.369001716375	0.20688	T	0.023137	0.17715	T	-0.61193	0.00123	T	-0.640741	0.09615	T	0.0314633672666874	0.02220	T	0.411659	0.10685	T	0.040142413	0.05673	0.064286456	0.12861	0.040142413	0.05673	0.064286456	0.12861	-4.46	0.30362	T	.	.	0.071	0.03698	B	.	.	0.585748	0.09544	6.318	0.96914827859104646	0.31593	0.03592	0.08815	N	ALL	0.358767	0.44933	N	-0.95796852417589	0.09514	0.4506561	-1.00233698350612	0.09734	0.4860026	0.999999999999902	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.57	-1.07	0.09459	0.073000	0.14504	-0.197000	0.10982	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1488:0.2474:0.4517:0.152	2.355	0.04031	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	0.04762	2330.08	33	chr19	3762773	.	G	A	2330.08	.	AC=2;AF=0.048;AN=42;DP=823;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.77;SOR=1.058	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2358,243,0	20	1	0	0
chr19	4511387	4511387	G	A	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.C2573T:p.A858V,	.	.	416	1100	5	1	0	7	0.00317173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.002	B	0.01	B	0.039	N	1.000	N	0.14	N	3.98	T	-0.949	T	0.008	T	0.118	-1.003	0.256	2.12	0.579	0.277	4.420	0.029	0.0180833010283	.	.	0.0057	0.0091	0.0077	0.0014	0.0052	0.0056	0.0056	0.0051	0.0001682	26	154602	rs771162067	2.312e-05	0.0011	1.673e-05	2.956e-05	0.0003	1.649e-05	1.45e-05	0.0002	0.0001	0.0003	0.0002	0	0	1.909e-05	0	1.099e-05	3.41e-05	1.187e-05	0.0004	0.0069	0.0003	0.0005	0.0013	0.0003	0.0003	0.0008	0.0006	0.0009	0	0.0013	0	0	0.0009	0	4.971e-05	0.0006	0	1.0	0.00964	T	0.281	0.21612	T	0.002	0.09854	B	0.01	0.14941	B	0.039027	0.01857	N	3.264740	1	0.08975	N	0.69	0.16971	N	3.98	0.03297	T	-0.02	0.07299	N	0.099	0.08088	-0.9492	0.41109	T	0.008	0.02760	T	10	0.007909894	0.00180	T	0.018083	0.40021	T	0.029	0.06676	.	.	0.0138822411134	0.00435	0.014470382677492866	0.01404	.	.	0.237904638052	0.02605	T	0.018477	0.14891	T	-0.350218	0.04714	T	-0.740841	0.03855	T	0.00153011113623067	0.00015	T	0.59544	0.22079	T	0.023214987	0.01043	0.028456092	0.01083	0.023214987	0.01042	0.028456092	0.01082	-6.78	0.52410	T	.	.	0.081	0.09723	B	.;.	.;.	-0.040328	0.04013	0.916	0.22755446620541564	0.00930	0.00611	0.02712	N	AEFGBCI	0.032744	0.03755	N	-1.23996584884986	0.04433	0.2000659	-1.21280270933194	0.05704	0.2725102	7.38268259921625E-4	0.07723	0.676563	0.55306	0	0.550933	0.16991	0	0.673471	0.61138	0	0.604944	0.38103	0	.	.	4.46	2.12	0.26372	-0.764000	0.04841	-1.935000	0.04470	-0.645000	0.04412	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6389:0.0:0.3611:0.0	4.420	0.10901	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	665.11	342	chr19	4511387	.	G	A	665.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.84;DP=7427;ExcessHet=0.1072;FS=56.298;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.94;MQRankSum=-2.183e+00;QD=2.25;ReadPosRankSum=-3.490e-01;SOR=4.145	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,10:12:54:0|1:4511363_CCA_C:414,0,54:4511363	19	0	2	0
chr19	4511388	4511388	C	G	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.G2572C:p.A858P,	.	.	418	1098	5	1	0	7	0.00317749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.951	P	0.644	P	0.039	U	1.000	N	1.24	L	3.86	T	-0.953	T	0.019	T	0.211	2.568	14.55	0.583	0.337	-1.021	9.036	0.073	0.0423553888564	.	.	0.0057	0.0091	0.0077	0.0016	0.0052	0.0056	0.0056	0.0051	6.5e-06	1	154602	rs200538852	1.329e-05	0.0008	1.114e-05	1.547e-05	0.0003	8.5e-06	6.85e-06	0.0002	0.0001	0.0003	0.0001	0	7.744e-05	1.907e-05	0	0	0	0	0.0003	0.0064	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	0.0007	0	0.0008	0	0	0.0005	0	4.88e-05	0.0006	0	0.172	0.22660	T	0.227	0.25362	T	0.951	0.53992	P	0.644	0.52249	P	0.039027	0.01857	U	3.264740	1	0.08975	N	1.24	0.30952	L	3.86	0.03624	T	-1.01	0.26639	N	0.175	0.21056	-0.9533	0.40398	T	0.019	0.07846	T	10	0.008268565	0.00187	T	0.042355	0.60420	D	0.073	0.21317	.	.	0.0551355673512	0.04727	0.13849248430646027	0.13772	.	.	0.297758728266	0.10068	T	0.031954	0.22272	T	-0.304874	0.08207	T	-0.675707	0.07248	T	0.0237859162056212	0.01118	T	0.768423	0.39759	T	0.114094384	0.26938	0.089574106	0.20955	0.114094384	0.26938	0.089574106	0.20954	-10.234	0.75300	D	.	.	0.422	0.60772	A	.;.	.;.	0.262681	0.06410	2.878	0.99195560496892443	0.55112	0.00614	0.02721	N	AEFGBCI	0.031897	0.03500	N	-0.699461386573928	0.16038	0.8135784	-0.876646511485983	0.12648	0.6518433	4.09036700427026E-4	0.06860	0.676563	0.55306	0	0.550933	0.16991	0	0.673471	0.61138	0	0.604944	0.38103	0	.	.	4.46	0.583	0.16599	-2.326000	0.01195	-20.000000	0.00162	-1.603000	0.00891	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0948:0.3022:0.603:0.0	9.036	0.35447	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	578.11	342	chr19	4511388	.	C	G	578.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.79;DP=7426;ExcessHet=0.1072;FS=53.914;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.02;MQRankSum=-2.183e+00;QD=1.97;ReadPosRankSum=-1.400e-01;SOR=4.067	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,10:12:54:0|1:4511363_CCA_C:414,0,54:4511363	19	0	2	0
chr19	4511391	4511391	T	C	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.A2569G:p.I857V,	.	.	419	1099	3	1	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.0	B	0.001	B	0.626	N	1.000	N	-1.785	N	4.33	T	-0.908	T	0.002	T	0.043	-1.347	0.029	-1.2	-0.033	-1.390	7.981	0.010	0.0420093115461	.	.	0.0010	0.0030	0.0011	0.0006	0.0006	0.0010	0.0023	0.0006	0.0009896	153	154602	rs769492017	4.896e-06	5.587e-05	4.177e-06	5.622e-06	0.0002	2.04e-06	1.31e-06	6.586e-05	4.281e-05	0.0002	4.736e-05	0	0	0	0	0	0	0	0.0001	0.0031	8.078e-05	0.0002	0.0005	7.094e-05	5.61e-05	0.0002	0.0002	0.0002	0	0.0005	0	0	0.0001	0	0	0.0006	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.625798	0.10735	N	0.743246	1	0.08975	N	-0.785	0.01646	N	4.33	0.02363	T	0.11	0.05706	N	0.041	0.01498	-0.9077	0.47133	T	0.002	0.00769	T	10	0.00640589	0.00145	T	0.042009	0.60234	D	0.010	0.01040	.	.	0.0297737177859	0.01360	0.009993915130712043	0.00961	.	.	0.244285747409	0.03190	T	0.014523	0.12349	T	-0.459907	0.00985	T	-0.898401	0.00514	T	0.00450887576918906	0.00048	T	0.305069	0.06017	T	0.029153606	0.02365	0.026259007	0.00706	0.029153606	0.02364	0.026259007	0.00706	-6.391	0.49440	T	.	.	0.080	0.11893	B	.;.	.;.	-1.975924	0.00107	0.002	0.21035539924483851	0.00784	0.00532	0.02463	N	AEFGBCI	0.034009	0.04140	N	-1.67551250975353	0.00932	0.04036694	-1.60183559093136	0.01644	0.07462527	4.62076783483494E-4	0.07066	0.582742	0.33608	0	0.550933	0.16991	0	0.61531	0.40942	0	0.604944	0.38103	0	.	.	4.46	-1.2	0.09062	-2.783000	0.00842	-11.434000	0.00605	-0.894000	0.02369	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4477:0.0:0.5523	7.981	0.29345	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	0.04762	287.22	342	chr19	4511391	.	T	C	287.22	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.52;DP=7415;ExcessHet=0.0000;FS=34.014;InbreedingCoeff=0.9958;MLEAC=2;MLEAF=0.048;MQ=58.47;MQRankSum=-1.614e+01;QD=26.15;ReadPosRankSum=-5.460e+00;SOR=3.442	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,7:7:21:1|1:4511363_CCA_C:315,21,0:4511363	20	1	0	0
chr19	4511393	4511398	TTTTGG	-	exonic	PLIN4	.	nonframeshift deletion	PLIN4:NM_001367868:exon5:c.2562_2567del:p.Q855_N856del,	.	.	414	1107	0	1	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.19e-05	0.0001	0	0	0	4.514e-05	0	6.112e-05	6.5e-06	1	154602	rs774430286	0	4.828e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.994e-06	0.0004	1.367e-05	0	2.876e-05	0	0	.	.	2.876e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	287.18	342	chr19	4511392	.	ATTTTGG	A	287.18	.	AC=2;AF=0.048;AN=42;DP=7392;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9958;MLEAC=2;MLEAF=0.048;MQ=35.88;QD=31.51;SOR=4.174	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,7:7:21:1|1:4511363_CCA_C:315,21,0:4511363	20	1	0	0
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|1:0,256,0:256:99:1|1:4511713_T_C:11520,771,0,11520,771,11520:4511713	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|2:0,0,281:281:99:1|1:4511713_T_C:12644,12644,12644,846,846,0:4511713	0	0	0	8
chr19	4859651	4859651	G	A	exonic	PLIN3	.	nonsynonymous SNV	PLIN3:NM_001164189:exon4:c.C287T:p.A96V	.	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.999	D	0.000	D	1.000	D	2.065	M	3.07	T	-1.123	T	0.067	T	0.809	3.521	17.98	4.2	2.161	7.506	16.294	0.402	0.0233896677904	0.0002	.	0.0001	0	0.0002	0	0	0.0002	0	0.0002	0.0001229	19	154602	rs145402746	8.072e-05	8.072e-05	6.806e-05	9.351e-05	0.0009	6.868e-05	6.42e-05	0.0003	0.0002	0	0.0002	0.0016	0	0	0.0009	3.058e-05	0.0001	0.0002	7.222e-05	7.218e-05	6.425e-05	8.055e-05	6.547e-05	3.968e-05	3.125e-05	1.171e-05	6.25e-06	0	0	6.547e-05	0.0014	0	0	0.0034	4.41e-05	0.0005	0	0.059	0.37536	T	0.091	0.40909	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999913	0.51042	D	2.39	0.68882	M	3.07	0.08547	T	-3.34	0.66325	D	0.661	0.69125	-1.1235	0.02121	T	0.067	0.27572	T	10	0.26280743	0.43753	T	0.02339	0.46348	T	0.402	0.71558	.	.	0.28722502521	0.28325	0.7171638014698266	0.71659	0.467212021082	0.46105	0.581556737423	0.50305	T	0.211253	0.57197	T	-0.12383	0.32499	T	-0.14135	0.60000	T	0.342984288930893	0.26742	T	0.839916	0.51656	T	0.32225117	0.54829	0.29765663	0.55799	0.32225117	0.54829	0.29765663	0.55798	-8.357	0.63512	D	.	.	0.164	0.53717	B	.;.;.;.;.	.;.;.;.;.	4.154254	0.62344	24.4	0.99872935698400533	0.95076	0.99521	0.97020	D	AEFDBI	0.888878	0.82243	D	0.505159350205338	0.67396	5.075841	0.390913538393295	0.61002	4.294618	0.999999989607675	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.2	4.2	0.48814	7.895000	0.85911	7.152000	0.57680	0.569000	0.28856	1.000000	0.71638	1.000000	0.68203	0.171000	0.21011	0.0:0.0:1.0:0.0	16.294	0.82591	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	0	0	0	0	0.04762	3496.08	47	chr19	4859651	.	G	A	3496.08	.	AC=2;AF=0.048;AN=42;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.40;SOR=0.859	GT:AD:DP:GQ:PL	1/1:0,115:115:99:3524,345,0	20	1	0	0
chr19	7535870	7535870	G	A	exonic	PNPLA6	.	nonsynonymous SNV	PNPLA6:NM_001166114:exon1:c.G82A:p.A28T	Boucher-Neuhauser syndrome, Autosomal recessive;Oliver-McFarlane syndrome, Autosomal recessive;Spastic paraplegia 39, autosomal recessive, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.0	B	0.001	B	.	.	1.000	N	0.345	N	0.86	T	-1.035	T	0.065	T	0.114	2.557	14.51	0.559	0.103	0.248	4.946	0.032	0.0204916791445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.16e-06	2.052e-06	2.844e-06	1.458e-06	2.517e-05	5.8e-07	1.6e-07	4.18e-06	1.56e-06	0	0	0	0	0	0	0	1.722e-05	2.517e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.26085	T	0.075	0.43913	T	.	.	.	.	.	.	.	.	.	.	1	0.20203	N	.	.	.	0.86	0.46777	T	-0.53	0.16393	N	0.121	0.17553	-1.0349	0.18888	T	0.065	0.27017	T	9	0.07884523	0.12616	T	0.020492	0.43095	T	0.032	0.07718	0.221	0.14371	0.101711395817	0.09552	0.41751893992339395	0.41667	1.37107048066	0.84535	0.333818793297	0.15509	T	.	.	.	-0.284256	0.10222	T	-0.64609	0.09231	T	0.0489454668289677	0.05313	T	0.628437	0.24364	T	0.030156132	0.02631	0.039470695	0.04046	0.030156132	0.02630	0.039470695	0.04046	-4.213	0.26939	T	.	.	0.075	0.07412	B	.;.	.;.	1.333768	0.17395	13.14	0.98785490630540096	0.46206	0.04556	0.10196	N	ALL	0.099716	0.20066	N	-1.01227517600823	0.08349	0.3911234	-1.04076071292596	0.08900	0.4399536	0.999999999999955	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	4.14	0.559	0.16459	0.146000	0.16000	1.540000	0.27221	0.672000	0.70159	0.000000	0.06391	0.956000	0.29165	0.022000	0.11911	0.2073:0.1748:0.6178:0.0	4.946	0.13341	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	0.04762	3641.08	34	chr19	7535870	.	G	A	3641.08	.	AC=2;AF=0.048;AN=42;DP=853;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.09;SOR=0.814	GT:AD:DP:GQ:PL	1/1:0,121:121:99:3669,361,0	20	1	0	0
chr19	7630619	7630619	A	G	exonic	PET100	.	nonsynonymous SNV	PET100:NM_001171155:exon2:c.A74G:p.N25S,	Mitochondrial complex IV deficiency, Autosomal recessive, Mitochondrial	.	428	1089	5	0	0	5	0.00229043	.	.	1208892	Mitochondrial_complex_4_deficiency,_nuclear_type_12|not_provided	MONDO:MONDO:0033646,MedGen:C5436695,OMIM:619055|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.996	D	0.99	D	.	.	0.985	D	.	.	.	.	-0.173	T	0.345	T	0.282	4.530	24.4	5.29	1.984	6.183	12.745	0.328	0.136500655648	0.0018	0.00139776	0.0013	0	0.0065	0	0	0.0012	0	0.0018	0.000401	62	154602	rs184325854	0.0022	0.0021	0.0022	0.0022	0.0035	0.0021	0.0021	0.0030	0.0028	0.0002	0.0035	0	0	0.0002	0	0.0024	0.0026	0.0017	0.0015	0.0015	0.0016	0.0013	0.0025	0.0013	0.0013	0.0019	0.0018	0.0005	0	0.0025	0	0.0002	0.0004	0	0.0022	0.0033	0.0012	.	.	.	0.014	0.62352	D	0.996	0.68779	D	0.99	0.78936	D	.	.	.	.	0.985283	0.40262	D	.	.	.	.	.	.	.	.	.	0.562	0.68342	-0.1734	0.78345	T	0.345	0.71004	T	7	0.012122005	0.00262	T	0.136501	0.81898	D	.	.	.	.	0.154104182512	0.14974	0.9764139223726237	0.97631	.	.	0.483816355467	0.36582	T	0.331509	0.70158	T	-0.386201	0.02845	T	-0.330578	0.41405	T	0.0728936245578348	0.09051	T	0.816518	0.48765	T	0.82974094	0.85884	0.84648657	0.91269	0.82974094	0.85886	0.84648657	0.91270	-6.154	0.47550	T	0.5080299488642671	0.58218	0.219	0.49836	B	.;.	.;.	5.662598	0.92885	33	0.99871757918911552	0.94902	0.86717	0.46058	D	AEFGBCI	0.885638	0.81634	D	0.646195911734215	0.76124	6.428718	0.64037449492989	0.77897	6.768403	0.999999997388612	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.29	5.29	0.74430	5.562000	0.67049	10.980000	0.84596	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	12.745	0.56652	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6916.08	33	chr19	7630619	.	A	G	6916.08	.	AC=2;AF=0.048;AN=42;DP=967;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.87;SOR=0.904	GT:AD:DP:GQ:PL	1/1:0,217:217:99:6944,650,0	20	1	0	0
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	0/2:492,68,77:637:32:.:.:1337,32,20874,0,14897,16871	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	0/1:570,68:638:99:.:.:1140,0,23724	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|1:597,72:669:99:0|1:8888763_G_A:1226,0,24799:8888763	14	0	7	0
chr19	8888772	8888772	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40727G:p.H13576R,	.	.	387	1130	4	1	0	6	0.00264784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.918	P	0.884	P	.	.	.	.	2.455	M	1.54	T	-0.672	T	0.209	T	0.143	0.603	7.250	1.93	0.542	-0.004	4.795	0.027	0.01970920909	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796597641	6.847e-07	0.0003	1.363e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	0.0002	0.0067	7.429e-05	0.0002	0.0006	9.463e-05	7.746e-05	0.0001	8.311e-05	9.954e-05	0.0016	0.0004	0	0.0006	0.0001	0	8.473e-05	0.0007	0	0.399	0.10517	T	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.54	0.30133	T	-1.07	0.27876	N	0.198	0.21839	-0.6717	0.61752	T	0.209	0.56826	T	8	0.08854148	0.15256	T	0.019709	0.42141	T	0.070	0.20419	.	.	0.0846915920261	0.08053	0.10730361134637394	0.10659	.	.	0.301812142134	0.10671	T	.	.	.	-0.298934	0.08761	T	-0.667174	0.07791	T	0.0429873021479382	0.04234	T	0.289971	0.05268	T	.	.	.	.	.	.	.	.	-7.328	0.56394	T	.	.	0.079	0.07365	B	.	.	0.305711	0.06811	3.335	0.90875541208019783	0.20124	0.01928	0.05881	N	AEFDBI	0.046718	0.07789	N	-0.451024332831344	0.23705	1.274877	-0.644784429574841	0.18348	0.9797751	1.15187711553299E-4	0.05269	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.95	1.93	0.24985	-1.911000	0.01675	.	.	0.639000	0.52094	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.149:0.0:0.851	4.795	0.12637	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.125	5178.17	410	chr19	8888772	.	T	C	5178.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-7.350e-01;DP=11084;ExcessHet=1.1607;FS=20.381;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=55.59;MQRankSum=-8.634e+00;QD=1.74;ReadPosRankSum=0.031;SOR=2.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:587,75:662:99:0|1:8888763_G_A:1382,0,24421:8888763	15	0	5	1
chr19	8888822	8888826	GCTTT	0	exonic	MUC16	.	.	.	.	.	412	698	370	1	41	413	0.210407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	23587.18	358	chr19	8888822	.	GCTTT	G,*,TCTTT	23587.18	.	AC=17,3,1;AF=0.405,0.071,0.024;AN=42;BaseQRankSum=1.15;DP=9724;ExcessHet=54.0936;FS=9.916;InbreedingCoeff=-1.0000;MLEAC=17,3,1;MLEAF=0.405,0.071,0.024;MQ=57.12;MQRankSum=-1.109e+01;QD=2.75;ReadPosRankSum=0.578;SOR=1.311	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:266,85,55,34:440:99:.:.:3313,0,11152,1257,9142,12505,2871,10041,11303,15551	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|1:277,80,55:412:99:0|1:8888826_T_*:2552,0,11384,1087,9359,12553:8888826	1	0	19	0
chr19	8899974	8899974	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39011T:p.T13004I,	.	.	419	1095	8	0	0	8	0.00363967	0.0414	0.372	3214956	MUC16-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.997	D	0.958	D	.	.	.	.	1.735	L	4.43	T	-1.031	T	0.017	T	0.282	-0.196	3.049	1.16	0.926	0.085	5.678	0.045	0.00118460416831	.	.	2.492e-05	0	8.709e-05	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs778952678	8.896e-06	8.893e-06	9.532e-06	8.253e-06	0.0002	4.96e-06	3.83e-06	4.55e-06	3.32e-06	0	0	0	0	0	0.0002	8.996e-06	1.657e-05	1.16e-05	2.122e-05	0.0017	0	4.395e-05	2.653e-05	5.64e-06	2.57e-06	.	.	2.653e-05	0	0	0	0	0.0002	0	0	0	0	0.011	0.55530	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.43	0.02158	T	-2.06	0.47175	N	0.174	0.18649	-1.0313	0.20034	T	0.017	0.07187	T	8	0.12934974	0.24610	T	0.001185	0.01509	T	0.045	0.12272	.	.	0.128392430309	0.12331	0.11902561227878314	0.11829	.	.	0.318150579929	0.13140	T	.	.	.	-0.323778	0.06593	T	-0.57241	0.15230	T	0.219254165887833	0.21427	T	0.221278	0.02853	T	.	.	.	.	.	.	.	.	-7.441	0.57194	T	.	.	0.144	0.31608	B	.	.	1.710829	0.21783	15.35	0.21896655339985072	0.00856	0.01505	0.04982	N	AEFBI	0.034770	0.04364	N	-0.324931602343095	0.28204	1.553715	-0.621172338705613	0.18950	1.014588	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	0.426000	0.21081	.	.	0.526000	0.24426	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	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	0.07143	521.68	47	chr19	8899974	.	G	A	521.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.328e+00;DP=1769;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0767;MLEAC=3;MLEAF=0.071;MQ=59.20;MQRankSum=-1.467e+01;QD=0.73;ReadPosRankSum=0.784;SOR=0.630	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:216,16:232:22:0|1:8899972_T_C:22,0,9010:8899972	18	0	3	0
chr19	8899979	8899979	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39006A:p.S13002R,	.	.	420	1090	12	0	0	12	0.00547445	.	.	3192352	MUC16-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.991	D	0.934	D	.	.	.	.	1.525	L	4.6	T	-1.014	T	0.015	T	0.291	-0.237	2.857	1.16	0.926	-0.777	5.678	0.047	0.00102388544923	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1337261124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	0.0019	0	5.902e-05	2.675e-05	9.65e-06	5.49e-06	.	.	2.675e-05	0	0	0	0	0.0003	0	0	0	0	0.005	0.63226	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.6	0.01868	T	-1.27	0.31981	N	0.225	0.25253	-1.0136	0.25784	T	0.015	0.06282	T	8	0.15770155	0.29672	T	0.001024	0.01120	T	0.047	0.12962	0.143	0.04650	0.0920862733494	0.08535	0.15085560951934324	0.15007	.	.	0.265822708607	0.05603	T	.	.	.	-0.261119	0.12768	T	-0.612856	0.11755	T	0.168099865317345	0.18450	T	0.177782	0.01744	T	.	.	.	.	.	.	.	.	-7.626	0.58492	D	.	.	0.224	0.45544	B	.	.	0.282384	0.06594	3.083	0.44924595648877924	0.03489	0.01381	0.04703	N	AEFBI	0.028519	0.02526	N	-0.385439741200818	0.25987	1.414868	-0.673385610186316	0.17627	0.9381749	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	-0.802000	0.04651	.	.	-0.928000	0.02159	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	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	0.07143	574.68	47	chr19	8899979	.	G	T	574.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.200e+00;DP=2070;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=59.21;MQRankSum=-1.427e+01;QD=0.79;ReadPosRankSum=0.704;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:218,17:235:58:0|1:8899972_T_C:58,0,9103:8899972	18	0	3	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|1:220,18:238:94:0|1:8900000_C_T:94,0,9184:8900000	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|1:218,17:235:58:0|1:8900000_C_T:58,0,9022:8900000	8	0	13	0
chr19	8908637	8908637	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37574C:p.G12525A,	.	.	425	921	175	1	0	177	0.0876672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.982	D	.	.	.	.	1.825	L	4.5	T	-1.049	T	0.019	T	0.119	0.149	4.800	1.42	1.067	0.380	6.239	0.092	0.00100971464853	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796118737	0	1.984e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.704e-06	0.0012	0	1.379e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	-1.0	0.26422	N	0.149	0.15187	-1.0489	0.14705	T	0.019	0.07893	T	8	0.14229593	0.27028	T	0.00101	0.01096	T	0.092	0.26621	0.068	0.00352	0.0920862733494	0.08535	0.09297556608109382	0.09229	.	.	0.207300364971	0.00702	T	.	.	.	-0.324618	0.06526	T	-0.704068	0.05606	T	0.128357648849487	0.15229	T	0.250075	0.03765	T	.	.	.	.	.	.	.	.	-9.338	0.69846	D	.	.	0.128	0.27222	B	.	.	0.716944	0.10859	7.536	0.51191884600897364	0.04518	0.02560	0.07095	N	AEFBI	0.024210	0.01462	N	-0.258816728321443	0.30752	1.717725	-0.553394696242798	0.20716	1.117387	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.166000	0.09943	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	1286.53	209	chr19	8908637	.	C	G	1286.53	.	AC=6;AF=0.167;AN=36;BaseQRankSum=2.54;DP=3325;ExcessHet=1.7912;FS=9.333;InbreedingCoeff=-0.2165;MLEAC=7;MLEAF=0.194;MQ=58.51;MQRankSum=-1.077e+01;QD=1.08;ReadPosRankSum=0.914;SOR=1.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,13:173:64:0|1:8908630_T_A:64,0,6679:8908630	12	0	6	3
chr19	8908644	8908644	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37567C:p.D12523H,	.	.	422	906	191	3	0	197	0.0980587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.553	P	0.146	B	.	.	.	.	1.115	L	4.53	T	-0.965	T	0.005	T	0.122	-0.518	1.634	-2.84	-0.932	-2.451	2.526	0.015	0.00120507919294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796881038	6.844e-07	2.805e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.682e-06	0.0013	0	1.372e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.555	0.06482	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.53	0.01980	T	-0.67	0.19297	N	0.127	0.12055	-0.9652	0.38171	T	0.005	0.01833	T	8	0.059954166	0.07290	T	0.001205	0.01558	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.17377359918076668	0.17297	.	.	0.218874275684	0.01246	T	.	.	.	-0.367293	0.03734	T	-0.765368	0.02923	T	0.0819785980810491	0.10239	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-8.635	0.65320	D	.	.	0.155	0.34383	B	.	.	-0.155485	0.03325	0.581	0.2311562001233356	0.00962	0.00236	0.01316	N	AEFBI	0.021935	0.01036	N	-1.22951270346983	0.04577	0.2068566	-1.43744946049098	0.02886	0.1335886	3.83668398290725E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.84	0.05408	-3.238000	0.00603	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4784:0.3304:0.0:0.1912	2.526	0.04405	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1579	1251.42	202	chr19	8908644	.	C	G	1251.42	.	AC=6;AF=0.158;AN=38;BaseQRankSum=2.54;DP=3367;ExcessHet=1.7912;FS=9.055;InbreedingCoeff=-0.2014;MLEAC=6;MLEAF=0.158;MQ=58.24;MQRankSum=-1.070e+01;QD=1.05;ReadPosRankSum=1.39;SOR=1.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,13:177:52:0|1:8908630_T_A:52,0,6801:8908630	13	0	6	2
chr19	11378081	11378089	TGGGCTCCC	-	exonic	EPOR	.	nonframeshift deletion	EPOR:NM_000121:exon8:c.1422_1430del:p.A476_G478del,	.	.	406	1113	3	0	0	3	0.0013459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	9.921e-05	0	8.649e-05	0	0	0.0002	0	0	3.84e-05	1	26028	rs778198044	5.951e-05	5.951e-05	4.901e-05	7.013e-05	0.0003	4.883e-05	4.561e-05	7.281e-05	5.16e-05	0	0.0002	3.826e-05	0	0	0.0003	6.205e-05	0.0001	1.159e-05	8.546e-05	8.538e-05	7.711e-05	9.419e-05	0.0002	4.959e-05	3.964e-05	0.0001	7.898e-05	0	0	6.55e-05	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3662.05	34	chr19	11378080	.	TTGGGCTCCC	T	3662.05	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.07;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=30.77;ReadPosRankSum=0.517;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,117:119:99:1|1:11378080_TTGGGCTCCC_T:3690,308,0:11378080	20	1	0	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|1:59,5:64:10:0|1:11405406_G_C:10,0,2462:11405406	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|1:59,5:64:10:0|1:11405406_G_C:10,0,2462:11405406	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|1:59,5:64:10:0|1:11405406_G_C:10,0,2462:11405406	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	1/2:0,10,117:127:30:5117,4739,4990,386,0,30	2	0	2	0
chr19	12696501	12696501	G	T	exonic	FBXW9	.	nonsynonymous SNV	FBXW9:NM_032301:exon1:c.C81A:p.D27E,	.	.	432	1081	8	1	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.995	D	0.016	N	1.000	D	0.895	L	1.46	T	-0.878	T	0.160	T	0.401	4.000	20.5	-2.58	-0.521	0.403	4.718	0.139	0.0829890850285	0.0002	0.000399361	0.0005	0	0.0007	0	0	0.0008	0	0.0002	0.0005045	78	154602	rs151118454	0.0004	0.0004	0.0004	0.0004	0.0012	0.0004	0.0004	0.0009	0.0009	2.987e-05	0.0012	0.0095	0	1.919e-05	0.0007	0.0002	0.0011	0.0002	0.0004	0.0004	0.0005	0.0004	0.0011	0.0003	0.0003	0.0007	0.0006	0	0	0.0011	0.0072	0	0	0	0.0003	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.016498	0.27965	N	0.239573	1	0.81001	D	1.04	0.26193	L	1.46	0.50192	T	-0.6	0.17834	N	0.373	0.41459	-0.8780	0.49919	T	0.160	0.49480	T	10	0.0085065365	0.00193	T	0.082989	0.74020	D	0.139	0.37390	0.161	0.06507	0.622781533884	0.61972	0.11948807115812995	0.11875	1.30509170409	0.83107	0.765694856644	0.76779	T	.	.	.	-0.360405	0.04107	T	-0.331007	0.41357	T	0.410725176334381	0.29345	T	0.605739	0.22785	T	.	.	.	.	.	.	.	.	-2.269	0.04389	T	.	.	0.124	0.47976	B	.;.	.;.	1.855919	0.23579	16.07	0.99544605054457935	0.70711	0.33324	0.24800	N	AEFGBHCIJ	0.092356	0.18698	N	-0.284270197342057	0.29754	1.652943	-0.473108333962142	0.22897	1.245998	0.99999999998273	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.68	-2.58	0.05866	0.458000	0.21603	.	.	0.676000	0.76740	0.437000	0.26463	0.301000	0.24220	0.743000	0.35541	0.358:0.0:0.5039:0.1381	4.718	0.12286	712	0.56465	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3137.08	34	chr19	12696501	.	G	T	3137.08	.	AC=2;AF=0.048;AN=42;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.37;SOR=0.924	GT:AD:DP:GQ:PL	1/1:0,94:94:99:3165,281,0	20	1	0	0
chr19	13768642	13768642	G	A	exonic	MRI1	.	nonsynonymous SNV	MRI1:NM_001031727:exon4:c.G629A:p.R210Q	.	.	421	1098	3	0	0	3	0.00136426	.	.	181458	not_specified|Severe_cystic_degeneration_of_the_brain|Infantile_epilepsy	MedGen:CN169374|MedGen:CN228278|MedGen:CN228296	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.64	H	-3.39	D	1.038	D	0.920	D	0.755	4.513	24.3	4.76	2.757	8.790	14.176	0.959	0.433932623697	7.7e-05	0.000399361	0.0001	0	0.0002	0.0001	0	0.0001	0.0012	0.0004	0.0001229	19	154602	rs141094096	0.0001	0.0001	8.578e-05	0.0001	0.0019	8.715e-05	8.202e-05	0.0011	0.0008	2.987e-05	0.0002	0	0	0	0.0019	6.655e-05	0.0002	0.0005	9.191e-05	9.186e-05	6.424e-05	0.0001	0.0006	5.523e-05	4.361e-05	0.0002	8.992e-05	0	0	0.0001	0	0.0002	0	0	0.0001	0.0005	0.0006	0.002	0.78490	D	0.007	0.72224	D	1.0	0.90584	D	0.997	0.88582	D	0.000000	0.84330	D	0.000000	0.999918	0.58761	D	3.715	0.94732	H	-3.39	0.94210	D	-3.93	0.73788	D	0.642	0.80572	1.038	0.97869	D	0.920	0.97355	D	10	0.79415596	0.78920	D	0.433933	0.94035	D	0.959	0.99346	.	.	0.964281851281	0.96389	0.9076569926159438	0.90738	0.933116055964	0.71916	0.567619025707	0.48341	T	0.667682	0.90100	D	0.156249	0.69851	D	0.30282	0.88326	D	0.776924312114716	0.44859	D	0.991734	0.97507	D	0.95688087	0.96965	0.85620284	0.91921	0.9403019	0.95278	0.8663411	0.92614	-8.507	0.83667	D	0.7588981264196322	0.84077	0.725	0.74013	P	.;.	.;.	5.950785	0.94160	33	0.99950865262535638	0.99944	0.97901	0.77985	D	AEFDBI	0.908559	0.86402	D	0.939309569708445	0.93549	12.113	0.833929403664002	0.92042	11.20547	0.999999962930959	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.83	4.76	0.60189	8.939000	0.92475	11.688000	0.94314	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.8504:0.1496	14.176	0.65077	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4760.08	37	chr19	13768642	.	G	A	4760.08	.	AC=2;AF=0.048;AN=42;DP=1000;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.32;SOR=0.719	GT:AD:DP:GQ:PL	1/1:0,152:152:99:4788,455,0	20	1	0	0
chr19	13918779	13918779	C	T	exonic	CC2D1A	.	nonsynonymous SNV	CC2D1A:NM_017721:exon9:c.C980T:p.S327L,	Mental retardation, autosomal recessive 3, Autosomal recessive	YES	3	1438	77	4	0	85	0.0287065	.	.	134073	CC2D1A-related_disorder|Inborn_genetic_diseases|Intellectual_disability,_autosomal_recessive_3|not_specified|not_provided	.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012037,MedGen:C1838023,OMIM:608443,Orphanet:88616|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.32	T	0.0	B	0.0	B	0.811	N	1.000	N	-0.35	N	1.21	T	-1.017	T	0.027	T	0.073	1.140	9.645	1.51	0.616	-0.599	6.921	0.052	.	0.0055	0.00539137	0.0094	0.0013	0.0074	0.0006	0.0015	0.0109	0.0116	0.0176	0.0089908	1390	154602	rs200121704	0.0088	0.0088	0.0084	0.0093	0.0180	0.0087	0.0086	0.0166	0.0163	0.0011	0.0074	0.0222	0.0001	0.0022	0.0180	0.0087	0.0091	0.0173	0.0069	0.0069	0.0067	0.0071	0.0139	0.0066	0.0064	0.0112	0.0102	0.0016	0.0175	0.0104	0.0196	0	0.0019	0.0204	0.0093	0.0085	0.0139	0.331	0.13088	T	0.625	0.07316	T	0.0	0.02946	B	0.0	0.01387	B	0.810813	0.09252	N	0.915333	1	0.08975	N	-1.39	0.00611	N	1.21	0.37230	T	-0.62	0.18248	N	0.072	0.04547	-1.0167	0.24787	T	0.027	0.11618	T	10	0.004861355	0.00104	T	.	.	.	0.052	0.14661	.	.	0.19670166235	0.19296	0.11669279904069872	0.11597	0.186972255489	0.21008	0.30116713047	0.10575	T	0.039772	0.25304	T	-0.653363	0.00069	T	-0.697661	0.05954	T	0.0041007881650206	0.00044	T	0.284172	0.05010	T	0.024865195	0.01361	0.022541357	0.00277	0.022227304	0.00870	0.023826808	0.00396	-4.605	0.32234	T	.	.	0.065	0.01810	B	.;.	.;.	0.654653	0.10228	6.968	0.85560260078759576	0.15969	0.03524	0.08710	N	AEFBI	0.041663	0.06363	N	-1.08191448286278	0.06976	0.3227283	-1.04708614803974	0.08767	0.4327007	7.93846808118909E-5	0.04552	0.718356	0.82227	0	0.577304	0.33150	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	5.05	1.51	0.22094	-0.177000	0.09789	-0.366000	0.09640	-0.180000	0.10397	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6775:0.0:0.3225	6.921	0.23569	934	0.15400	.;.	STX10	Artery_Tibial	.	.	.	Likely benign	0	0	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	2868.08	37	chr19	13918779	.	C	T	2868.08	.	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=33.74;SOR=1.528	GT:AD:DP:GQ:PL	1/1:0,85:85:99:2896,255,0	20	1	0	0
chr19	17286684	17286684	G	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	4780.38	36	chr19	17286684	.	G	T,*	4780.38	.	AC=7,9;AF=0.175,0.225;AN=40;BaseQRankSum=-8.400e-01;DP=1119;ExcessHet=4.5793;FS=8.883;InbreedingCoeff=-0.2478;MLEAC=7,9;MLEAF=0.175,0.225;MQ=59.96;MQRankSum=0.00;QD=8.55;ReadPosRankSum=0.894;SOR=0.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:20,10,0:30:99:.:.:181,0,471,241,502,742	6	0	6	1
chr19	17286686	17286692	GTGTGTT	0	exonic	ANKLE1	.	.	.	.	.	513	567	132	0	310	442	0.104265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1476.26	36	chr19	17286686	.	GTGTGTT	*,G,TTGTGTT	1476.26	.	AC=9,2,4;AF=0.214,0.048,0.095;AN=42;BaseQRankSum=0.195;DP=1111;ExcessHet=3.1640;FS=2.719;InbreedingCoeff=-0.1486;MLEAC=9,2,4;MLEAF=0.214,0.048,0.095;MQ=60.00;MQRankSum=0.00;QD=2.88;ReadPosRankSum=0.928;SOR=0.500	GT:AD:DP:GQ:PGT:PID:PL:PS	2/3:1,0,10,12:23:99:.:.:631,617,732,288,412,427,207,303,0,272	8	1	7	0
chr19	17286688	17286692	GTGTT	0	exonic	ANKLE1	.	.	.	.	.	525	471	333	8	185	534	0.270333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	4769.66	36	chr19	17286688	.	GTGTT	*,G,TTGTT	4769.66	.	AC=11,10,1;AF=0.262,0.238,0.024;AN=42;BaseQRankSum=0.035;DP=1122;ExcessHet=8.0185;FS=14.083;InbreedingCoeff=-0.3339;MLEAC=11,10,1;MLEAF=0.262,0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=7.34;ReadPosRankSum=0.733;SOR=0.210	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:1,10,12,0:23:99:.:.:634,288,402,210,0,275,617,398,303,722	3	1	6	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	2703.98	18	chr19	17286690	.	GTT	*,G	2703.98	.	AC=19,8;AF=0.452,0.190;AN=42;BaseQRankSum=-1.400e-01;DP=1116;ExcessHet=3.1640;FS=12.346;InbreedingCoeff=-0.0816;MLEAC=19,7;MLEAF=0.452,0.167;MQ=59.97;MQRankSum=0.00;QD=4.53;ReadPosRankSum=0.510;SOR=0.209	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,12,0:23:65:.:.:424,0,65,407,93,512	2	3	9	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	2556.62	16	chr19	17286692	.	T	*,G	2556.62	.	AC=29,9;AF=0.690,0.214;AN=42;BaseQRankSum=-3.190e-01;DP=1109;ExcessHet=0.6776;FS=2.075;InbreedingCoeff=-0.1052;MLEAC=29,9;MLEAF=0.690,0.214;MQ=59.98;MQRankSum=0.00;QD=3.57;ReadPosRankSum=1.19;SOR=0.451	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,22,0:23:87:.:.:1314,87,0,1141,145,1328	0	10	3	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	1|1:0,91,0:91:99:1|1:20624371_G_GA:4000,274,0,4000,274,4000:20624371	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	1|1:0,91,0:91:99:1|1:20624371_G_GA:3828,263,0,3828,263,3828:20624371	0	4	3	7
chr19	20624804	20624804	G	C	exonic	ZNF626	.	nonsynonymous SNV	ZNF626:NM_001076675:exon4:c.C1073G:p.T358R,	.	.	423	1030	69	0	0	69	0.0324096	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.049	B	0.026	B	.	.	1.000	N	-0.515	N	.	.	-0.994	T	0.023	T	0.213	-2.109	0.006	-1.8	-0.794	-12.371	2.796	0.010	0.00052238757973	.	.	0.0029	0.0034	0.0017	0.0005	0.0015	0.0031	0.0022	0.0044	3.84e-05	1	26028	rs201684374	2.334e-05	0.0006	2.869e-05	1.794e-05	2.521e-05	1.68e-05	1.482e-05	3e-07	1.1e-07	0	0	3.839e-05	2.521e-05	0.0006	0	1.803e-06	0	1.162e-05	0.0005	0.0094	0.0004	0.0006	0.0009	0.0004	0.0004	0.0003	0.0003	0.0005	0.0036	0.0005	0.0003	0.0006	0.0005	0	0.0004	0.0010	0.0009	.	.	.	0.898	0.04587	T	0.049	0.22227	B	0.026	0.20792	B	.	.	.	.	1	0.08975	N	-1.33	0.00679	N	3.18	0.07478	T	.	.	.	0.078	0.05287	-0.9935	0.31696	T	0.023	0.09696	T	8	0.010496229	0.00233	T	5.22E-4	0.00174	T	.	.	.	.	0.124217242631	0.12060	0.014608698947642334	0.01417	0.253056736109	0.27872	.	.	.	0.00116	0.00668	T	-0.335464	0.05708	T	-0.719647	0.04813	T	0.0263409838080406	0.01452	T	0.0307969	0.00205	T	0.05529088	0.10726	0.041683216	0.04792	0.05529088	0.10725	0.041683216	0.04792	-5.04	0.37271	T	.	.	0.180	0.44201	B	.;.	.;.	-0.312537	0.02564	0.311	0.10407538250522598	0.00130	0.00409	0.02034	N	AEFBHCI	0.029335	0.02749	N	-2.04734225397827	0.00167	0.007157553	-2.12141737029828	0.00167	0.007357579	4.19159266624134E-6	0.01202	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.620846	0.47308	0	.	.	0.898	-1.8	0.07480	-9.429000	0.00015	.	.	-0.591000	0.04649	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4716:0.2552:0.2732:0.0	2.796	0.05071	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0.05	453.8	150	chr19	20624804	.	G	C	453.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=3.17;DP=2963;ExcessHet=0.1072;FS=15.904;InbreedingCoeff=-0.0633;MLEAC=2;MLEAF=0.050;MQ=58.80;MQRankSum=-4.323e+00;QD=1.79;ReadPosRankSum=0.994;SOR=2.055	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,19:205:99:0|1:20624804_G_C:238,0,7451:20624804	18	0	2	1
chr19	20624831	20624831	G	T	exonic	ZNF626	.	nonsynonymous SNV	ZNF626:NM_001076675:exon4:c.C1046A:p.A349D,	.	.	431	1026	65	0	0	65	0.0307038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.35	B	0.521	P	.	.	1.000	N	2	M	.	.	-0.798	T	0.160	T	0.137	1.212	9.921	-0.351	0.284	-0.266	2.164	0.053	0.0029372711923	.	.	0.0007	0.0012	0.0005	0.0001	0.0002	0.0008	0.0011	0.0004	.	.	.	rs200037994	5.483e-06	0.0004	6.82e-06	4.133e-06	2.521e-05	2.36e-06	1.71e-06	.	.	0	0	0	2.521e-05	0.0001	0	0	0	0	0.0003	0.0086	0.0002	0.0004	0.0008	0.0002	0.0002	0.0003	0.0002	0.0004	0.0012	0.0003	0.0003	0.0008	0.0002	0	0.0002	0.0010	0.0004	.	.	.	0.028	0.63109	D	0.35	0.33644	B	0.521	0.48239	P	.	.	.	.	1	0.08975	N	1.76	0.45711	L	1.26	0.36330	T	.	.	.	0.083	0.06990	-0.7977	0.55280	T	0.160	0.49413	T	8	0.047144234	0.03994	T	0.002937	0.06250	T	.	.	.	.	0.379881503574	0.37595	0.016107731133111286	0.01566	0.344841452812	0.36407	.	.	.	0.030734	0.21715	T	-0.280055	0.10662	T	-0.640056	0.09664	T	0.143846975603257	0.16602	T	0.0109989	0.00062	T	0.5628548	0.70667	0.3956977	0.64231	0.5628548	0.70668	0.3956977	0.64231	-8.255	0.62794	D	.	.	0.468	0.63076	A	.;.	.;.	1.739355	0.22131	15.49	0.97389007560457919	0.33711	0.02848	0.07604	N	AEFBHCI	0.039414	0.05722	N	-0.725798739957691	0.15299	0.7697871	-0.964231783067838	0.10595	0.5346012	1.29106194834359E-6	0.01202	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.620846	0.47308	0	.	.	0.898	-0.351	0.11976	-2.347000	0.01175	.	.	-0.672000	0.04293	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.3015:0.3473:0.3512:0.0	2.164	0.03599	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	414.11	150	chr19	20624831	.	G	T	414.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.26;DP=2918;ExcessHet=0.1072;FS=21.280;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.99;MQRankSum=-4.476e+00;QD=1.60;ReadPosRankSum=-2.217e+00;SOR=2.387	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,19:213:99:0|1:20624804_G_C:214,0,8089:20624804	19	0	2	0
chr19	35787444	35787444	G	C	exonic	ARHGAP33	.	nonsynonymous SNV	ARHGAP33:NM_001172630:exon20:c.G2471C:p.G824A	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.004	B	0.006	B	0.095	N	1.000	N	0.55	N	3.24	T	-0.962	T	0.005	T	0.119	-0.318	2.488	1.72	0.517	0.863	5.339	0.013	.	.	0.00579073	0.0022	0	9.151e-05	0.0292	0	5.002e-05	0	0.0001	0.0018434	285	154602	rs78210368	0.0009	0.0009	0.0010	0.0009	0.0321	0.0009	0.0009	0.0307	0.0301	0	2.243e-05	0	0.0321	0	0.0002	8.098e-06	0.0007	0.0002	0.0009	0.0009	0.0008	0.0010	0.0261	0.0008	0.0007	0.0225	0.0212	0	0	0	0	0.0261	0	0	2.944e-05	0	0.0006	0.006	0.61437	D	0.793	0.04155	T	0.003	0.11197	B	0.006	0.12133	B	0.095311	0.20130	N	0.420286	1	0.08975	N	.	.	.	3.24	0.11298	T	-0.47	0.15178	N	0.193	0.24510	-0.9622	0.38761	T	0.005	0.01833	T	10	0.00358513	0.00065	T	.	.	.	0.013	0.01715	.	.	0.0716867268079	0.06686	0.20242639843409016	0.20159	0.282364650884	0.30698	0.510391414165	0.40278	T	.	.	.	-0.672211	0.00053	T	-0.717411	0.04922	T	0.00645812537136067	0.00072	T	0.791921	0.43319	T	.	.	.	.	.	.	.	.	-3.866	0.21794	T	.	.	0.078	0.06896	B	.;.	.;.	1.124924	0.15109	11.60	0.90623164925966315	0.19876	0.12745	0.17454	N	AEFDBI	0.100505	0.20207	N	-0.955956129893583	0.09559	0.4529669	-0.946650778815864	0.11000	0.5577539	0.0427636686848781	0.14540	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.07	1.72	0.23498	-1.456000	0.02483	4.996000	0.46562	-0.113000	0.14837	0.000000	0.06391	0.999000	0.35428	0.014000	0.10232	0.2436:0.1576:0.5987:0.0	5.339	0.15278	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2303.08	35	chr19	35787444	.	G	C	2303.08	.	AC=2;AF=0.048;AN=42;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.12;SOR=0.927	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2331,221,0	20	1	0	0
chr19	36876931	36876931	A	G	exonic	ZNF345	.	nonsynonymous SNV	ZNF345:NM_001242472:exon3:c.A101G:p.H34R	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.099	B	0.023	B	.	.	1.000	N	1.39	L	5.5	T	-0.991	T	0.003	T	0.361	1.098	9.481	2.68	0.967	0.254	5.144	0.046	.	7.7e-05	0.0123802	0.0049	0.0002	8.64e-05	0.0645	0	0.0002	0.0066	0.0007	0.0046118	713	154602	rs76873965	0.0023	0.0023	0.0024	0.0022	0.0712	0.0023	0.0022	0.0690	0.0681	0.0001	0.0003	0.0028	0.0712	0	0.0007	8.274e-05	0.0054	0.0005	0.0026	0.0026	0.0024	0.0027	0.0650	0.0024	0.0023	0.0593	0.0570	0.0003	0	0.0008	0.0037	0.0650	0	0.0034	2.94e-05	0.0047	0.0006	0.056	0.38185	T	0.022	0.57587	D	0.099	0.25639	B	0.023	0.19966	B	.	.	.	.	1	0.81001	D	1.61	0.41143	L	3.32	0.08014	T	-4.78	0.81675	D	0.118	0.22486	-0.9906	0.32449	T	0.003	0.00800	T	9	0.0019909441	0.00031	T	.	.	.	0.046	0.12618	.	.	0.346768085243	0.34289	0.07001407372180081	0.06938	0.263554880307	0.28907	0.310773998499	0.12024	T	0.169008	0.51623	T	-0.552404	0.00282	T	-0.512005	0.21110	T	0.0115437652333234	0.00174	T	0.60264	0.22576	T	0.114675306	0.27070	0.13499019	0.32333	0.114675306	0.27070	0.13499019	0.32332	-4.314	0.28373	T	.	.	0.091	0.12891	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	0.701233	0.10700	7.394	0.94274704896020056	0.24565	0.07188	0.13213	N	AEFGBHCI	0.095353	0.19267	N	-0.406527743112467	0.25240	1.368697	-0.337365764649784	0.26903	1.489072	0.0024510503425142	0.09436	0.638212	0.43195	0	0.670034	0.63936	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	4.96	2.68	0.30839	-0.343000	0.07838	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.962000	0.52141	0.6273:0.1902:0.0:0.1825	5.144	0.14305	584	0.69381	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2877.08	35	chr19	36876931	.	A	G	2877.08	.	AC=2;AF=0.048;AN=42;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.21;SOR=0.905	GT:AD:DP:GQ:PL	1/1:0,102:102:99:2905,306,0	20	1	0	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.001	B	.	.	1.000	N	0.55	N	-0.28	T	-0.989	T	0.121	T	0.114	1.268	10.14	-4.52	-1.174	-2.695	8.886	0.030	0.0455139123668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.853e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.693	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	-0.07	0.08033	N	0.067	0.03956	-0.9885	0.32978	T	0.121	0.42208	T	9	0.0735006	0.11114	T	0.045514	0.62018	D	0.030	0.07022	0.322	0.30226	0.0551355673512	0.04727	0.019455290587693495	0.01899	.	.	0.366222500801	0.20289	T	.	.	.	-0.271564	0.11583	T	-0.627859	0.10578	T	0.0769434833446011	0.09592	T	0.353365	0.07952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37293	B	.;.	.;.	-1.370848	0.00382	0.007	0.78222985595802419	0.12208	0.01418	0.04786	N	AEFGBI	0.030388	0.03052	N	-1.5918959215929	0.01305	0.05684392	-1.65151224496589	0.01368	0.06179205	0.00476714215870287	0.10704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-4.52	0.03227	-2.190000	0.01332	.	.	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3557:0.1261:0.5182:0.0	8.886	0.34564	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3438	3239.79	87	chr19	37887093	.	A	G	3239.79	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-3.813e+00;DP=2213;ExcessHet=7.7275;FS=216.184;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=2.67;ReadPosRankSum=1.38;SOR=11.319	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,32:98:99:0|1:37887093_A_G:671,0,2357:37887093	5	0	11	5
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.001	B	.	.	1.000	N	0	N	1.1	T	-1.038	T	0.044	T	0.146	0.505	6.738	0.383	0.403	-0.759	2.678	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	6132.23	64	chr19	37887095	.	C	T	6132.23	.	AC=15;AF=0.500;AN=30;BaseQRankSum=-4.055e+00;DP=2145;ExcessHet=17.4423;FS=296.629;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.600;MQ=60.00;MQRankSum=0.00;QD=3.74;ReadPosRankSum=1.29;SOR=12.164	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,33:99:99:0|1:37887093_A_G:694,0,2354:37887093	0	0	15	6
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.213	B	0.033	B	.	.	1.000	N	0	N	1.06	T	-1.038	T	0.045	T	0.239	-0.012	3.951	2.35	0.269	1.921	5.276	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	5559.48	64	chr19	37887096	.	A	G	5559.48	.	AC=15;AF=0.469;AN=32;BaseQRankSum=-3.174e+00;DP=2173;ExcessHet=17.4423;FS=266.005;InbreedingCoeff=-0.7148;MLEAC=18;MLEAF=0.563;MQ=60.00;MQRankSum=0.00;QD=3.41;ReadPosRankSum=1.27;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,31:96:99:0|1:37887093_A_G:661,0,2338:37887093	1	0	15	5
chr19	37892670	37892670	G	C	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon4:c.C3033G:p.I1011M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.01	B	0.016	B	0.002	N	1.000	N	0	N	-0.15	T	-0.976	T	0.119	T	0.054	-1.252	0.050	-1.22	-0.208	-0.027	5.556	0.033	0.0352285146626	.	.	4.58e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs746697547	2.858e-06	2.736e-06	1.41e-06	4.347e-06	2.78e-06	6.7e-07	4.5e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.78e-06	1.723e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28271	T	0.071	0.43531	T	0.01	0.15535	B	0.016	0.17743	B	0.001750	0.00822	N	2.854230	1	0.08975	N	.	.	.	-0.15	0.65192	T	0.25	0.04456	N	0.053	0.03069	-0.9755	0.36015	T	0.119	0.41713	T	10	0.035098553	0.01743	T	0.035229	0.56205	D	0.033	0.08068	0.304	0.27325	0.0846915920261	0.08053	0.06097374764353501	0.06037	.	.	0.278730064631	0.07316	T	.	.	.	-0.289127	0.09724	T	-0.642269	0.09505	T	0.0385010502990379	0.03421	T	0.521748	0.17009	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06205	B	.;.	.;.	0.545763	0.09141	5.926	0.20938344275431103	0.00776	0.01829	0.05679	N	AEFBI	0.045843	0.07542	N	-1.2648500468362	0.04106	0.1847188	-1.26905743914984	0.04855	0.2300104	0.112683396952031	0.16690	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.27	-1.22	0.09005	-0.108000	0.10827	.	.	-0.127000	0.13314	0.004000	0.16614	0.001000	0.17328	0.008000	0.08271	0.3084:0.1903:0.5012:0.0	5.556	0.16405	646	0.63441	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4090.08	36	chr19	37892670	.	G	C	4090.08	.	AC=2;AF=0.048;AN=42;DP=871;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.46;SOR=1.085	GT:AD:DP:GQ:PL	1/1:0,130:130:99:4118,390,0	20	1	0	0
chr19	38815889	38815889	C	T	exonic	ECH1	.	nonsynonymous SNV	ECH1:NM_001398:exon9:c.G850A:p.D284N,	.	.	426	1062	32	2	0	36	0.0166667	.	.	549788	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.06	T	0.58	P	0.232	B	0.001	N	0.996	D	1.61	L	-0.34	T	-1.097	T	0.016	T	0.023	2.492	14.29	1.52	0.230	2.665	8.821	0.184	.	0.0007	0.0439297	0.0217	0.0015	0.0138	0.1011	0.0108	0.0010	0.0111	0.0872	0.0196634	3040	154602	rs58750431	0.0088	0.0088	0.0069	0.0108	0.0926	0.0087	0.0087	0.0902	0.0891	0.0005	0.0126	0.0042	0.0926	0.0111	0.0066	0.0003	0.0128	0.0790	0.0086	0.0086	0.0065	0.0109	0.1036	0.0082	0.0081	0.0963	0.0934	0.0008	0	0.0086	0.0026	0.1036	0.0105	0	0.0006	0.0080	0.0901	0.052	0.39097	T	0.043	0.49942	D	0.58	0.38813	P	0.232	0.38314	B	0.000557	0.43413	N	0.224693	0.995888	0.42905	D	1.96	0.53105	M	-0.34	0.68474	T	-3.92	0.73151	D	0.127	0.12055	-1.0969	0.04487	T	0.016	0.06425	T	10	0.003258437	0.00056	T	.	.	.	0.184	0.45763	.	.	.	.	0.5948108593860878	0.59411	0.210675352167	0.23564	.	.	.	0.126685	0.45322	T	-0.608825	0.00129	T	-0.560458	0.16333	T	0.0442205592395221	0.04461	T	.	.	.	0.0875064	0.20380	0.08958698	0.20957	0.0875064	0.20379	0.08958698	0.20957	-7.382	0.56778	T	.	.	0.113	0.22464	B	.	.	1.427526	0.18454	13.74	0.99155882767163839	0.53959	0.76974	0.37797	D	AEFDBHCI	0.564811	0.57144	D	-0.363951650050263	0.26763	1.463097	-0.386532372428914	0.25398	1.396471	0.934234573778894	0.27162	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.85	1.52	0.22158	2.858000	0.48055	-0.124000	0.11690	-0.260000	0.06918	0.990000	0.36992	0.000000	0.08366	0.009000	0.08673	0.0:0.7388:0.0:0.2612	8.821	0.34186	583	0.69484	.	.	.	.	.	rs58750431	Likely benign	0	0	0	0	0	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	5404.66	35	chr19	38815889	.	C	T	5404.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.670e-01;DP=954;ExcessHet=0.0000;FS=2.851;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=22.90;ReadPosRankSum=-9.660e-01;SOR=0.504	GT:AD:DP:GQ:PL	1/1:0,129:129:99:4067,387,0	19	1	1	0
chr19	40321974	40321974	G	A	exonic	C19orf47	.	nonsynonymous SNV	C19orf47:NM_001256440:exon9:c.C1177T:p.R393W	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.008	B	0.004	B	0.001	N	0.701	N	1.1	L	.	.	-0.961	T	0.090	T	0.182	3.913	19.90	3.02	1.255	1.152	7.834	0.032	0.00771445680627	0.0003	0.000599042	0.0005	0.0003	0	0.0014	0.0002	0.0005	0.0023	0.0004	0.0004075	63	154602	rs144463824	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0002	0.0005	0.0005	0.0001	0	0.0049	0.0008	0.0003	0	6.296e-05	0.0006	0.0004	0.0003	0.0003	0.0003	0.0003	0.0019	0.0002	0.0002	0.0010	0.0008	0.0002	0	0	0.0040	0.0019	0.0005	0	5.88e-05	0	0.0008	0.007	0.59928	D	0.004	0.74150	D	0.008	0.14655	B	0.004	0.10090	B	0.000894	0.41231	N	0.237591	0.700507	0.30108	N	1.87	0.49600	L	.	.	.	-2.46	0.53736	N	0.121	0.15609	-0.9613	0.38936	T	0.090	0.34628	T	9	0.0066946745	0.00152	T	0.007714	0.20457	T	0.032	0.07718	.	.	0.082315109003	0.07666	0.3805272973163311	0.37967	0.314831118833	0.33766	.	.	.	0.022581	0.17383	T	-0.376029	0.03300	T	-0.402071	0.33143	T	0.0533019064023597	0.06071	T	0.90061	0.65471	D	0.08812199	0.20546	0.12644067	0.30453	0.08812199	0.20546	0.12644067	0.30452	-6.06	0.46778	T	.	.	0.085	0.13737	B	.;.	.;.	4.457302	0.69343	25.4	0.9991765125091977	0.98518	0.87015	0.46431	D	AEFBI	0.488319	0.52670	N	-0.200054493944892	0.33132	1.876289	-0.0497881220512179	0.37500	2.196456	1.83421554705185E-4	0.05844	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.36	3.02	0.33970	1.259000	0.32559	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0911:0.0:0.658:0.2508	7.834	0.28521	725	0.54935	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2426.08	34	chr19	40321974	.	G	A	2426.08	.	AC=2;AF=0.048;AN=42;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.59;SOR=1.367	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2454,246,0	20	1	0	0
chr19	42868780	42868780	C	T	exonic	PSG1	.	nonsynonymous SNV	PSG1:NM_001330524:exon3:c.G685A:p.D229N	.	.	10	1474	36	0	2	38	0.0120643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.022	B	0.134	B	.	.	1.000	N	2.745	M	2.84	T	-0.902	T	0.035	T	0.134	-1.253	0.050	0.676	0.080	1.980	4.490	0.086	.	.	.	0.0020	0.0213	0.0006	0	0	6.284e-05	0.0012	0.0003	0.0014683	227	154602	rs17420655	0.0007	0.0039	0.0004	0.0010	0.0011	0.0006	0.0006	0.0008	0.0008	0.0009	0.0011	0.0019	0	0.0002	0.0007	0.0007	0.0007	0.0010	0.0031	0.0056	0.0030	0.0032	0.0110	0.0029	0.0028	0.0101	0.0098	0.0110	0	0.0008	0	0	0	0	0.0001	0.0005	0.0002	0.845	0.44029	T	0.361	0.32355	T	0.001	0.18677	B	0.029	0.27321	B	.	.	.	.	0.999996	0.08975	N	2.025	0.55430	M	2.84	0.10674	T	-2.75	0.71639	D	0.347	0.42050	-0.9024	0.47739	T	0.035	0.15117	T	9	0.007892251	0.00179	T	.	.	.	0.086	0.25016	.	.	0.126345400529	0.12197	0.03387732316318568	0.03335	0.00987268019295	0.00898	.	.	.	0.010277	0.10839	T	-0.307771	0.07946	T	-0.679868	0.06991	T	0.00946674713678386	0.00122	T	0.729327	0.49484	T	0.08315202	0.19188	0.08771763	0.20407	0.08315202	0.19188	0.08771763	0.20406	-6.515	0.50425	T	.	.	0.082	0.20741	B	.;.;.;.;.;.	.;.;.;.;.;.	1.353802	0.17619	13.27	0.20392931264867589	0.00731	0.33297	0.24794	N	AEFI	0.037230	0.05088	N	-0.909708983635535	0.10614	0.508056	-0.994187267957953	0.09914	0.4961313	1.20336686153666E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.79	0.676	0.17125	0.384000	0.20396	0.453000	0.18541	-0.806000	0.03109	0.859000	0.30595	0.001000	0.17328	0.012000	0.09680	0.0:0.7829:0.0:0.2171	4.490	0.11220	326	0.86709	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;.;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	491.14	35	chr19	42868780	.	C	T	491.14	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.482e+00;DP=2491;ExcessHet=0.1072;FS=2.717;InbreedingCoeff=-0.0513;MLEAC=2;MLEAF=0.048;MQ=51.06;MQRankSum=-1.102e+01;QD=0.61;ReadPosRankSum=-2.533e+00;SOR=1.053	GT:AD:DP:GQ:PL	0/1:364,47:472:99:356,0,10215	19	0	2	0
chr19	43176069	43176069	T	G	exonic	PSG5	.	nonsynonymous SNV	PSG5:NM_001130014:exon3:c.A510C:p.E170D	.	.	11	1445	66	0	0	66	0.0223275	.	.	2340841	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.948	P	0.911	D	.	.	1.000	N	1.405	L	2.67	T	-1.031	T	0.038	T	0.182	0.369	6.004	0.1	0.527	-1.036	2.779	0.066	0.000670184073519	.	.	2.475e-05	9.716e-05	0	0	0	3.001e-05	0	0	3.84e-05	1	26028	rs200537553	2.743e-06	0.0003	1.365e-06	4.136e-06	9.005e-07	6.4e-07	4.3e-07	.	.	0	0	0	0	5.652e-05	0	9.005e-07	0	0	2.651e-05	0.0007	3.885e-05	1.358e-05	6.632e-05	8.2e-06	5.18e-06	4.91e-06	1.84e-06	0	0	6.632e-05	0	0	0	0	2.958e-05	0.0005	0	0.826	0.02913	T	0.283	0.21612	T	0.0	0.02946	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.71	0.44315	L	2.67	0.12473	T	-0.85	0.23156	N	0.162	0.25377	-1.0311	0.20099	T	0.038	0.16548	T	9	0.05737266	0.06580	T	6.7E-4	0.00383	T	0.066	0.19193	0.698	0.83499	0.16115917748	0.15686	0.10525158950099638	0.10455	0.0238137571014	0.02414	.	.	.	0.002523	0.01914	T	-0.313722	0.07424	T	-0.688417	0.06481	T	0.120045120196503	0.14434	T	0.564843	0.19943	T	0.06523243	0.13921	0.056585502	0.10137	0.06523243	0.13920	0.056585502	0.10137	-5.305	0.39993	T	.	.	0.203	0.44682	B	.;.;.;.;.	.;.;.;.;.	0.243443	0.06232	2.687	0.96375077285061395	0.29597	0.00284	0.01530	N	AEFI	0.034589	0.04311	N	-0.999019992406806	0.08625	0.4051179	-1.174052176649	0.06346	0.3051872	1.09731146299496E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.23	0.1	0.13817	-0.869000	0.04340	.	.	0.476000	0.22017	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.3406:0.0:0.6594	2.779	0.05026	798	0.45050	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2897.11	56	chr19	43176069	.	T	G	2897.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.991e+00;DP=3442;ExcessHet=0.1072;FS=0.793;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=52.47;MQRankSum=-1.000e+01;QD=2.76;ReadPosRankSum=4.81;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:456,68:524:99:0|1:43176063_C_T:1483,0,18611:43176063	19	0	2	0
chr19	43176083	43176083	C	G	exonic	PSG5	.	nonsynonymous SNV	PSG5:NM_001130014:exon3:c.G496C:p.A166P	.	.	12	1476	34	0	0	34	0.0113865	.	.	2330906	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.664	P	0.71	P	.	.	1.000	N	2.47	M	2.66	T	-1.058	T	0.073	T	0.491	1.192	9.844	0.652	0.630	-1.921	.	0.125	0.00113651897482	.	.	1.649e-05	0	8.642e-05	0	0	1.5e-05	0	0	3.84e-05	1	26028	rs142461950	1.783e-05	0.0002	1.91e-05	1.654e-05	8.955e-05	1.24e-05	1.054e-05	2.987e-05	1.806e-05	0	8.955e-05	0	0	3.762e-05	0	1.621e-05	1.661e-05	1.161e-05	5.961e-05	0.0003	7.765e-05	4.07e-05	0.0002	3.1e-05	2.226e-05	2.288e-05	9.17e-06	4.887e-05	0	0.0001	0	0	0	0	4.433e-05	0.0005	0.0002	0.116	0.28395	T	0.182	0.29740	T	0.152	0.28062	B	0.303	0.41149	B	.	.	.	.	1	0.08975	N	2.47	0.71715	M	2.66	0.12575	T	-2.32	0.51478	N	0.245	0.35301	-1.0577	0.12337	T	0.073	0.29451	T	8	0.12919632	0.24581	T	0.001137	0.01410	T	0.125	0.34456	.	.	0.101711395817	0.09552	0.3601559712871728	0.35929	0.0801815698632	0.09021	.	.	.	0.010933	0.09820	T	-0.35202	0.04601	T	-0.546457	0.17668	T	0.234928263496648	0.22185	T	0.787421	0.42665	T	0.6860694	0.77298	0.6370779	0.78808	0.6860694	0.77299	0.6370779	0.78809	-8.509	0.64488	D	.	.	0.227	0.47535	B	.;.;.;.;.	.;.;.;.;.	-0.007313	0.04232	1.041	0.98644097184687929	0.44096	0.00577	0.02607	N	AEFI	0.057581	0.10738	N	-0.726610116541622	0.15276	0.7684609	-0.977350988520557	0.10295	0.5175824	1.48299913005432E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.652	0.652	0.16995	-1.711000	0.01987	.	.	-1.404000	0.01138	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	798	0.45050	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1652.11	56	chr19	43176083	.	C	G	1652.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.196e+00;DP=3377;ExcessHet=0.1072;FS=0.777;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=54.11;MQRankSum=-1.170e+01;QD=1.72;ReadPosRankSum=0.211;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:417,64:481:99:0|1:43176063_C_T:1432,0,16960:43176063	19	0	2	0
chr19	44814191	44814191	C	T	exonic	BCAM	.	nonsynonymous SNV	BCAM:NM_001013257:exon7:c.C824T:p.S275F	.	.	415	1101	6	0	0	6	0.00271739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.944	D	.	.	1.000	N	0.55	N	2.65	T	-1.075	T	0.044	T	0.396	1.445	10.77	2.95	2.159	2.249	6.602	0.121	0.0199055840572	0.0018	0.00159744	0.0016	0.0013	0.0003	0	0.0002	0.0017	0.0023	0.0041	0.0016106	249	154602	rs139610351	0.0021	0.0020	0.0020	0.0021	0.0033	0.0020	0.0020	0.0029	0.0028	0.0003	0.0003	0.0031	7.69e-05	0.0004	0.0018	0.0022	0.0016	0.0033	0.0012	0.0012	0.0011	0.0014	0.0048	0.0011	0.0010	0.0033	0.0028	0.0004	0	0.0002	0.0032	0	0.0004	0	0.0019	0.0009	0.0048	0.006	0.61437	D	0.013	0.69154	D	0.995	0.67487	D	0.944	0.68059	D	.	.	.	.	1	0.08975	N	2.79	0.81396	M	2.65	0.68892	T	-2.21	0.49684	N	0.434	0.47301	-1.0751	0.08328	T	0.044	0.18824	T	9	0.0076416135	0.00174	T	0.019906	0.42389	T	0.121	0.33580	.	.	0.498387242485	0.49473	0.3604593471763995	0.35959	0.669328087364	0.59342	0.529243946075	0.42927	T	0.132674	0.46291	T	-0.325482	0.06459	T	-0.242099	0.50594	T	0.0334224699105504	0.02541	T	0.810419	0.46176	T	0.08789899	0.20485	0.14533965	0.34472	0.08694026	0.20226	0.1703657	0.39140	-9.118	0.68453	D	.	.	0.200	0.42302	B	.;.;.	.;.;.	3.820635	0.55160	23.6	0.99645249689230986	0.76943	0.05805	0.11742	N	AEFDBI	0.090954	0.18427	N	-0.147241788161712	0.35351	2.029492	-0.311621938858244	0.27723	1.540347	0.86132319466983	0.25231	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.98	2.95	0.33285	1.706000	0.37497	.	.	0.599000	0.40250	0.003000	0.16062	0.891000	0.27831	0.222000	0.22517	0.0:0.8718:0.0:0.1282	6.602	0.21901	616	0.66398	Immunoglobulin-like domain;Immunoglobulin-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1283.98	34	chr19	44814191	.	C	T	1283.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.281e+00;DP=807;ExcessHet=0.0000;FS=0.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=0.671;SOR=0.616	GT:AD:DP:GQ:PL	0/1:48,54:102:99:1298,0,1222	20	0	1	0
chr19	46412517	46412517	G	T	exonic	CCDC8	.	nonsynonymous SNV	CCDC8:NM_032040:exon1:c.C294A:p.D98E,	3-M syndrome 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1327237	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.31	T	0.999	D	0.992	D	0.000	D	0.948	N	1.995	M	2.17	T	-1.095	T	0.068	T	0.316	3.939	20.1	2.8	1.203	1.957	7.261	0.059	.	.	0.00559105	0.0018	0	0	0.0027	0	0	0.0011	0.0120	0.0016688	258	154602	rs201941979	0.0008	0.0008	0.0005	0.0010	0.0105	0.0007	0.0007	0.0099	0.0097	0	8.945e-05	0	0.0031	0	0.0002	7.195e-06	0.0009	0.0105	0.0006	0.0006	0.0004	0.0009	0.0127	0.0005	0.0005	0.0102	0.0092	0	0	6.541e-05	0	0.0058	0	0	0	0.0005	0.0127	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.992	0.80445	D	0.000417	0.44736	D	0.000000	0.947751	0.26590	N	0.69	0.16971	N	2.17	0.19020	T	-0.61	0.18042	N	0.382	0.42345	-1.0953	0.04709	T	0.068	0.28047	T	10	0.006514758	0.00148	T	.	.	.	0.059	0.16972	0.266	0.21261	0.321951552304	0.31805	0.09031553929312675	0.08964	0.843357692643	0.68169	0.6851734519	0.65012	T	0.023709	0.18049	T	-0.459584	0.00989	T	-0.431156	0.29805	T	0.0903419400259183	0.11259	T	0.608539	0.22995	T	0.45420924	0.64308	0.26352015	0.52159	0.32195267	0.54804	0.2936363	0.55392	-3.596	0.17799	T	.	.	0.895	0.82428	P	.;.	.;.	4.227708	0.63999	24.6	0.99698115249184127	0.80453	0.70298	0.34533	D	AEFDBCI	0.258411	0.37696	N	0.363973736766343	0.59482	4.127901	0.278124653178453	0.54264	3.591972	0.999990114094746	0.74766	0.72623	0.87236	0	0.547309	0.14657	0	0.594344	0.31042	0	0.530356	0.10902	0	.	.	3.84	2.8	0.31881	1.530000	0.35613	5.508000	0.48790	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.1197:0.0:0.8803:0.0	7.261	0.25379	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2061.98	34	chr19	46412517	.	G	T	2061.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.45;DP=914;ExcessHet=0.0000;FS=2.719;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=-3.190e-01;SOR=0.510	GT:AD:DP:GQ:PL	0/1:92,79:171:99:2076,0,2281	20	0	1	0
chr19	47695060	47695060	C	T	exonic	BICRA	.	nonsynonymous SNV	BICRA:NM_015711:exon9:c.C3056T:p.P1019L,	.	.	424	1087	10	1	0	12	0.00548948	.	.	2818506	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.015	B	0.004	B	.	.	0.984	N	0.55	N	1.51	T	-1.054	T	0.042	T	0.206	1.436	10.74	2.36	1.633	0.372	3.742	0.025	0.253149797867	.	0.000399361	0.0023	0	0	0	0	0.0004	0	0.0032	0.0002587	40	154602	rs566879134	0.0004	0.0004	0.0004	0.0005	0.0019	0.0004	0.0004	0.0013	0.0012	0.0002	0.0004	0.0004	2.809e-05	2.901e-05	0.0019	0.0004	0.0006	0.0016	0.0005	0.0005	0.0004	0.0005	0.0012	0.0004	0.0003	0.0006	0.0005	0.0004	0	0.0010	0.0009	0.0002	0	0	0.0004	0.0009	0.0012	0.004	0.65419	D	0.01	0.65728	D	0.015	0.17086	B	0.004	0.10090	B	.	.	.	.	0.983767	0.24857	N	.	.	.	1.51	0.30937	T	-1.2	0.30555	N	0.271	0.33469	-1.0544	0.13198	T	0.042	0.17952	T	9	0.012189627	0.00263	T	0.25315	0.89200	D	0.025	0.05312	0.245	0.17984	0.043077524339	0.03247	0.3517732396465989	0.35091	0.227543361675	0.25305	0.709222197533	0.68480	T	0.010615	0.09570	T	-0.54006	0.00335	T	-0.56755	0.15675	T	0.0198505725061431	0.00687	T	0.691431	0.30091	T	0.05061061	0.09171	0.053140286	0.08894	0.05061061	0.09171	0.053140286	0.08893	-5.312	0.40062	T	.	.	0.084	0.12181	B	.;.	.;.	2.628707	0.34181	19.55	0.98929420217650343	0.48713	0.14624	0.18501	N	AEFBI	0.025813	0.01832	N	-0.615495391132795	0.18479	0.9596747	-0.554452174077509	0.20687	1.115737	0.0737832675596922	0.15645	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	3.43	2.36	0.28258	0.183000	0.16729	4.263000	0.42814	0.450000	0.21304	0.030000	0.20431	0.957000	0.29195	0.013000	0.09966	0.2443:0.6208:0.0:0.1349	3.742	0.08061	695	0.58372	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	730.11	33	chr19	47695060	.	C	T	730.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.51;DP=667;ExcessHet=0.1072;FS=1.065;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-3.600e-01;SOR=0.894	GT:AD:DP:GQ:PL	0/1:18,10:28:99:226,0,477	19	0	2	0
chr19	47754612	47754612	C	T	exonic	NOP53	.	nonsynonymous SNV	NOP53:NM_015710:exon7:c.C851T:p.T284M,	.	.	442	1024	49	7	0	63	0.0298437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.927	P	0.498	P	0.168	N	1.000	N	1.04	L	1.1	T	-1.017	T	0.073	T	0.093	1.993	12.62	1.65	0.910	0.373	4.672	0.041	.	0.0048	0.00279553	0.0136	0.0016	0.0076	0	0	0.0152	0.0192	0.0152	0.0034217	529	154602	rs200463741	0.0066	0.0065	0.0063	0.0069	0.0262	0.0065	0.0064	0.0222	0.0207	0.0011	0.0041	0.0135	2.791e-05	0.0013	0.0262	0.0065	0.0078	0.0135	0.0047	0.0048	0.0048	0.0046	0.0126	0.0044	0.0043	0.0101	0.0092	0.0007	0	0.0045	0.0121	0.0002	0.0008	0.0238	0.0071	0.0090	0.0126	0.108	0.29420	T	0.025	0.56192	D	0.927	0.51527	P	0.498	0.47596	P	0.168490	0.03092	N	1.781030	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.21	0.10308	N	0.163	0.17140	-1.0168	0.24755	T	0.073	0.29675	T	10	0.009180903	0.00207	T	.	.	.	0.041	0.10877	.	.	0.341696514166	0.33777	0.12463098791776257	0.12389	0.469969455627	0.46289	0.332075119019	0.15247	T	0.025983	0.19322	T	-0.613896	0.00120	T	-0.643564	0.09412	T	0.0283586252326964	0.01741	T	0.693531	0.30321	T	0.013671488	0.00066	0.027146567	0.00847	0.013671488	0.00066	0.027146567	0.00847	-5.807	0.44635	T	.	.	0.082	0.08657	B	.	.	1.784252	0.22686	15.72	0.99572906523437688	0.72501	0.08317	0.14262	N	AEFDBHCI	0.136783	0.25756	N	-0.494089786967939	0.22273	1.188187	-0.652737263232716	0.18147	0.9681613	0.0370203101049433	0.14274	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.87	1.65	0.23015	-0.020000	0.12466	-1.828000	0.04652	-0.376000	0.05418	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.6466:0.2284:0.125	4.672	0.12077	889	0.27310	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	470.98	39	chr19	47754612	.	C	T	470.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.971;DP=734;ExcessHet=0.0000;FS=4.531;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=-4.550e-01;SOR=0.799	GT:AD:DP:GQ:PL	0/1:23,19:42:99:485,0,567	20	0	1	0
chr19	48498017	48498017	G	T	exonic	LMTK3	.	nonsynonymous SNV	LMTK3:NM_001080434:exon12:c.C3139A:p.P1047T,	.	.	382	1139	1	0	0	1	0.000438789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.001	B	0.002	B	0.447	N	1.000	N	0.55	N	-1.1	T	-0.906	T	0.235	T	0.105	1.534	11.08	2.95	2.041	0.410	8.888	0.154	0.0991348850372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.34982	T	0.186	0.31730	T	0.001	0.07471	B	0.002	0.06944	B	0.446559	0.12561	N	0.676525	0.999989	0.18198	N	0.755	0.19153	N	-1.09	0.77336	T	-1.83	0.42957	N	0.086	0.06322	-0.9064	0.47285	T	0.235	0.60209	T	10	0.07843387	0.12499	T	0.099135	0.77058	D	0.154	0.40340	0.258	0.20002	0.399889258716	0.39604	.	.	.	.	0.378645479679	0.22064	T	0.013296	0.11527	T	-0.144582	0.29163	T	-0.445458	0.28198	T	0.10729899635362	0.13141	T	0.572243	0.20426	T	0.07401325	0.16579	0.10779545	0.25956	0.07401325	0.16579	0.10779545	0.25955	-2.054	0.03392	T	.	.	0.110	0.21011	B	.;.;.	.;.;.	2.182308	0.27816	17.59	0.98145929099690643	0.38647	0.05274	0.11115	N	AEFDBI	0.034099	0.04165	N	-0.566988768148765	0.19953	1.048362	-0.451328774919717	0.23511	1.282528	0.999924831275694	0.46280	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.63947	0.58350	0	.	.	4.14	2.95	0.33285	0.710000	0.25421	5.164000	0.47803	0.614000	0.49286	0.000000	0.06391	1.000000	0.68203	0.928000	0.46473	0.0:0.3044:0.6956:0.0	8.888	0.34573	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	1388.98	34	chr19	48498017	.	G	T	1388.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.190e-01;DP=824;ExcessHet=0.0000;FS=0.795;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=0.511;SOR=0.542	GT:AD:DP:GQ:PL	0/1:47,53:100:99:1403,0,1220	20	0	1	0
chr19	48703267	48703267	C	T	exonic	FUT2	.	nonsynonymous SNV	FUT2:NM_000511:exon2:c.C311T:p.A104V	.	.	419	1054	48	1	0	50	0.0231696	.	.	984434	Familial_Otitis_Media	.	no_assertion_criteria_provided	confers_sensitivity	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.982	D	.	.	0.941	D	3.02	M	-4.16	D	1.135	D	0.939	D	0.79	2.857	15.52	4.19	2.037	4.733	14.405	0.779	.	0.0006	0.00319489	0.0039	0.0002	0.0015	0.0001	0	0.0014	0.0080	0.0210	0.0032923	509	154602	rs149356814	0.0019	0.0019	0.0013	0.0025	0.0206	0.0019	0.0018	0.0198	0.0195	0.0001	0.0010	0.0028	7.557e-05	1.892e-05	0.0116	0.0006	0.0025	0.0206	0.0013	0.0013	0.0012	0.0014	0.0194	0.0012	0.0011	0.0162	0.0150	9.624e-05	0	0.0011	0.0037	0	0	0.0102	0.0010	0.0019	0.0194	0.039	0.42487	D	0.019	0.59159	D	0.999	0.77913	D	0.982	0.75477	D	.	.	.	.	0.941004	0.37318	D	2.965	0.85198	M	-4.16	0.96826	D	-3.22	0.64939	D	0.558	0.81360	1.135	0.99931	D	0.939	0.97982	D	9	0.01712045	0.00364	T	.	.	.	0.779	0.92623	.	.	0.982550369732	0.98236	0.44415395212301567	0.44333	0.733435026441	0.62845	0.430974453688	0.29342	T	0.131596	0.46118	T	0.0547111	0.58947	T	0.265279	0.86341	D	0.0505083253708795	0.05590	T	0.894311	0.63332	D	0.28840944	0.51844	0.36057407	0.61497	0.36899018	0.58511	0.33836746	0.59615	-8.024	0.61234	D	.	.	0.322	0.54638	B	.;.;.	.;.;.	3.915589	0.57135	23.8	0.99915014806242197	0.98309	0.97369	0.74314	D	AEFGBI	0.579516	0.58029	D	0.583976673298565	0.72176	5.764432	0.441392951124102	0.64165	4.665643	0.532866957730309	0.21190	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.622129	0.49086	0	.	.	4.19	4.19	0.48645	4.729000	0.61702	4.155000	0.42174	0.589000	0.31548	0.994000	0.38300	0.999000	0.35428	0.091000	0.17840	0.0:1.0:0.0:0.0	14.405	0.66645	878	0.29785	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1170.98	69	chr19	48703267	.	C	T	1170.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.182;DP=1539;ExcessHet=0.0000;FS=1.530;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.21;MQRankSum=0.392;QD=10.46;ReadPosRankSum=-6.120e-01;SOR=0.874	GT:AD:DP:GQ:PL	0/1:66,46:112:99:1185,0,1788	20	0	1	0
chr19	49154456	49154456	-	CATCAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.781_782insATGATG:p.D261_V262insDD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	20926.44	44	chr19	49154453	.	ACAT	A,ACATCATCAT,ACATCAT	20926.44	.	AC=17,1,3;AF=0.405,0.024,0.071;AN=42;BaseQRankSum=0.276;DP=1607;ExcessHet=2.0051;FS=3.406;InbreedingCoeff=-0.0476;MLEAC=17,1,3;MLEAF=0.405,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=23.81;ReadPosRankSum=0.061;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:33,30,0,0:63:99:.:.:1057,0,1140,1156,1231,2387,1156,1231,2387,2387	5	4	8	0
chr19	49154456	49154456	-	CAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.781_782insATG:p.D261_V262insD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	20926.44	44	chr19	49154453	.	ACAT	A,ACATCATCAT,ACATCAT	20926.44	.	AC=17,1,3;AF=0.405,0.024,0.071;AN=42;BaseQRankSum=0.276;DP=1607;ExcessHet=2.0051;FS=3.406;InbreedingCoeff=-0.0476;MLEAC=17,1,3;MLEAF=0.405,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=23.81;ReadPosRankSum=0.061;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:33,30,0,0:63:99:.:.:1057,0,1140,1156,1231,2387,1156,1231,2387,2387	5	4	8	0
chr19	49200318	49200318	C	-	exonic	TRPM4	.	frameshift deletion	TRPM4:NM_001321285:exon13:c.1602delC:p.H535Tfs*35	Progressive familial heart block, type IB, Autosomal dominant	.	1	1517	4	0	0	4	0.00131666	.	.	410647	Progressive_familial_heart_block_type_IB|Erythrokeratodermia_variabilis_et_progressiva_6|Cardiovascular_phenotype|not_provided|Long_QT_syndrome	MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871|MONDO:MONDO:0032801,MedGen:C5193144,OMIM:618531|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0042	.	0.0001	0	0	0	0	0.0002	0	6.056e-05	0.00011	17	154602	rs1064796006	0.0002	0.0002	0.0002	0.0001	0.0012	0.0002	0.0001	0.0006	0.0004	0	0	0	0	0	0.0012	0.0002	0.0001	3.478e-05	0.0001	0.0001	0.0002	6.726e-05	0.0002	8.175e-05	6.73e-05	0.0001	0.0001	4.82e-05	0	6.552e-05	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2899.94	36	chr19	49200317	.	AC	A	2899.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.274e+00;DP=837;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.57;ReadPosRankSum=0.071;SOR=0.667	GT:AD:DP:GQ:PL	0/1:51,90:141:99:2914,0,1482	20	0	1	0
chr19	49652713	49652713	G	A	exonic	SCAF1	.	nonsynonymous SNV	SCAF1:NM_021228:exon7:c.G2324A:p.G775E,	.	.	265	1247	10	0	0	10	0.00399361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	B	0.004	B	0.209	N	1.000	N	-0.205	N	1.64	T	-1.020	T	0.016	T	0.176	0.808	8.245	-3.07	-0.189	1.742	2.432	0.039	0.0303033595875	0.0007	0.000998403	0.0031	0.0007	0.0022	0	0.0039	0.0031	0.0065	0.0045	0.0009508	147	154602	rs182682442	0.0010	0.0010	0.0009	0.0011	0.0030	0.0009	0.0009	0.0027	0.0025	0.0005	0.0006	7.802e-05	2.619e-05	0.0010	0.0028	0.0009	0.0010	0.0030	0.0010	0.0010	0.0010	0.0010	0.0031	0.0009	0.0008	0.0019	0.0015	0.0002	0.0175	0.0011	0	0	0.0009	0	0.0013	0.0014	0.0031	0.017	0.51248	D	0.489	0.11586	T	0.005	0.12996	B	0.004	0.10090	B	0.209092	0.16409	N	0.445392	1	0.08975	N	0	0.06538	N	1.64	0.27822	T	-1.08	0.28084	N	0.254	0.28732	-1.0202	0.23649	T	0.016	0.06425	T	9	0.00406155	0.00079	T	0.030303	0.52646	D	0.039	0.10176	.	.	0.043077524339	0.03247	0.05533791047632273	0.05474	0.820147628991	0.67127	0.750120520592	0.74464	T	0.023764	0.18084	T	-0.560982	0.00250	T	-0.581953	0.14371	T	0.00361394179660227	0.00038	T	0.49875	0.15541	T	0.0573767	0.11411	0.06755219	0.13991	0.0573767	0.11411	0.06755219	0.13990	-4.766	0.34192	T	.	.	0.334	0.55508	B	.	.	2.210627	0.28203	17.72	0.96242393558321571	0.29154	0.24372	0.22373	N	AEFDGBI	0.071491	0.14234	N	-1.08199010070539	0.06975	0.3226574	-1.04895430595164	0.08729	0.4305904	0.889282149890082	0.25809	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.03	-3.07	0.05038	0.208000	0.17212	2.016000	0.30187	-0.148000	0.12190	0.006000	0.17386	1.000000	0.68203	0.974000	0.55675	0.0982:0.2786:0.341:0.2822	2.432	0.04200	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	0.02381	1388.98	36	chr19	49652713	.	G	A	1388.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=879;ExcessHet=0.0000;FS=4.785;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=-6.620e-01;SOR=0.354	GT:AD:DP:GQ:PL	0/1:64,51:115:99:1403,0,1738	20	0	1	0
chr19	49889673	49889673	A	T	exonic	IL4I1	.	nonsynonymous SNV	IL4I1:NM_001385639:exon8:c.T1590A:p.H530Q	.	.	424	1096	1	1	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.021	B	0.006	B	.	.	1.000	N	0.345	N	1.53	T	-1.017	T	0.039	T	0.216	2.008	12.67	-2.5	-0.665	1.278	7.686	0.084	0.0239828868381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.009e-06	2.736e-06	2.933e-06	3.089e-06	3.824e-06	7e-07	4.8e-07	9e-07	6e-07	0	0	0	0	0	0	3.824e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.57480	D	0.019	0.61642	D	0.003	0.18474	B	0.002	0.12133	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.53	0.31731	T	-1.27	0.31981	N	0.169	0.17966	-1.0174	0.24560	T	0.039	0.16978	T	9	0.08257532	0.13645	T	0.023983	0.46960	T	0.084	0.24469	0.168	0.07302	0.0297737177859	0.01360	0.42910966158426445	0.42827	1.43871519606	0.85933	0.337653070688	0.16086	T	0.144977	0.48187	T	-0.214407	0.18763	T	-0.545757	0.17735	T	0.109401460489958	0.13361	T	0.249275	0.03729	T	0.12735322	0.29803	0.17029406	0.39127	0.12735322	0.29803	0.17029406	0.39126	-3.077	0.11319	T	.	.	0.076	0.07793	B	.;.;.	.;.;.	2.466778	0.31786	18.85	0.87569305785542306	0.17322	0.32680	0.24644	N	AEGBCI	0.061127	0.11665	N	-0.938411700697504	0.09955	0.4734603	-0.969579711767672	0.10473	0.5276589	0.999999184443986	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.596491	0.31596	0	0.699875	0.68795	0	.	.	3.09	-2.5	0.06015	1.312000	0.33179	2.824000	0.34981	0.740000	0.86194	0.989000	0.36753	1.000000	0.68203	0.565000	0.30531	0.348:0.0:0.0:0.652	7.686	0.27704	633	0.64743	.;.;.	.	.	.	.	.	Uncertain significance	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	1581.98	33	chr19	49889673	.	A	T	1581.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.700e-01;DP=863;ExcessHet=0.0000;FS=1.346;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=1.61;SOR=0.557	GT:AD:DP:GQ:PL	0/1:96,61:157:99:1596,0,2701	20	0	1	0
chr19	52115230	52115230	C	T	exonic	ZNF616	.	nonsynonymous SNV	ZNF616:NM_178523:exon4:c.G1934A:p.R645H,	.	.	406	1111	3	2	0	7	0.00314042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.203	B	0.005	B	.	.	1.000	N	-0.335	N	.	.	-0.989	T	0.017	T	0.165	1.229	9.985	-3.24	-0.362	-2.198	5.885	0.053	0.00113530573844	0.0052	0.00299521	0.0049	0.0018	0.0041	0	0.0017	0.0071	0.0088	0.0018	0.0048641	752	154602	rs115812880	0.0054	0.0054	0.0055	0.0054	0.0063	0.0053	0.0053	0.0062	0.0062	0.0020	0.0036	0.0051	2.519e-05	0.0019	0.0019	0.0063	0.0051	0.0016	0.0042	0.0042	0.0047	0.0038	0.0064	0.0040	0.0039	0.0059	0.0057	0.0023	0	0.0045	0.0029	0.0004	0.0017	0.0034	0.0064	0.0052	0.0012	.	.	.	0.332	0.18449	T	0.203	0.29776	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.67	0.16346	N	3.1	0.08283	T	.	.	.	0.081	0.05670	-0.9885	0.32978	T	0.017	0.06759	T	8	0.0052120388	0.00113	T	0.001135	0.01385	T	.	.	.	.	0.128392430309	0.12331	0.024378407866257255	0.02388	0.0819614160384	0.09232	0.277630388737	0.07164	T	0.008494	0.07800	T	-0.6426	0.00080	T	-0.692101	0.06268	T	0.00408076701414358	0.00043	T	0.909009	0.67793	D	0.016966546	0.00236	0.02800055	0.00997	0.016966546	0.00235	0.02800055	0.00996	-6.181	0.47769	T	.	.	0.175	0.38245	B	.	.	0.449120	0.08191	4.928	0.96342880096096528	0.29490	0.00001	0.00044	N	AEFBHCI	0.048245	0.08212	N	-1.39992508578575	0.02640	0.1168514	-1.4883859324187	0.02439	0.1121814	0.00108969258068814	0.08206	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	2.08	-3.24	0.04779	-1.417000	0.02571	.	.	-0.425000	0.05218	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2414:0.5603:0.1983	5.885	0.18125	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1731.98	33	chr19	52115230	.	C	T	1731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.540;DP=952;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.08;ReadPosRankSum=0.177;SOR=0.643	GT:AD:DP:GQ:PL	0/1:58,65:123:99:1746,0,1477	20	0	1	0
chr19	53267316	53267316	G	C	exonic	VN1R4	.	nonsynonymous SNV	VN1R4:NM_173857:exon1:c.C350G:p.A117G,	.	.	429	996	97	0	0	97	0.0464337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.27	B	0.303	B	0.544	N	1.000	N	2.14	M	1.22	T	-0.992	T	0.002	T	0.033	-0.469	1.836	-0.254	0.038	0.522	5.387	0.048	.	0.0745	.	0.0723	0.1661	0.0578	0.1678	0.0343	0.0512	0.0526	0.0748	0.0574507	8882	154602	rs74359534	0.0001	0.0012	0.0001	0.0001	0.0005	0.0001	0.0001	0.0003	0.0002	0.0005	2.243e-05	3.834e-05	0.0003	0.0005	0	8.66e-05	0.0002	0.0002	0.0005	0.0022	0.0004	0.0006	0.0016	0.0004	0.0004	0.0008	0.0007	0.0011	0	0.0002	0.0003	0.0016	0.0002	0	0.0002	0.0005	0.0013	0.022	0.48642	D	0.031	0.53788	D	.	.	.	.	.	.	0.544248	0.05332	N	1.356640	1	0.08975	N	.	.	.	1.22	0.37052	T	-2.67	0.57110	D	0.067	0.03956	-0.9924	0.31985	T	0.002	0.00526	T	10	0.0025487542	0.00039	T	.	.	.	0.048	0.13305	.	.	.	.	0.05313922711391094	0.05255	0.384759530948	0.39774	0.249634504318	0.03729	T	.	.	.	-0.723375	0.00026	T	-0.704733	0.05570	T	0.0342202795027098	0.02675	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12084	B	.	.	1.325632	0.17306	13.08	0.87963315563257027	0.17613	0.00907	0.03546	N	AEFGBI	0.029181	0.02709	N	-0.884326474785515	0.11215	0.5400046	-1.06817902281054	0.08332	0.4092313	4.69142761911595E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.28	-0.254	0.12350	0.747000	0.25956	.	.	-0.917000	0.02218	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.4302:0.3517:0.2182	5.387	0.15525	994	0.00715	.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.09524	1222.92	63	chr19	53267316	.	G	C	1222.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.947e+00;DP=1756;ExcessHet=0.6776;FS=0.701;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=51.46;MQRankSum=-9.148e+00;QD=1.35;ReadPosRankSum=1.32;SOR=0.598	GT:AD:DP:GQ:PL	0/1:202,30:232:46:46,0,5849	17	0	4	0
chr19	54074944	54074944	C	T	exonic	TARM1	.	nonsynonymous SNV	TARM1:NM_001135686:exon3:c.G241A:p.E81K	.	.	431	1080	11	0	0	11	0.00506679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.005	B	0.01	B	.	.	1.000	N	1.475	L	5.73	T	-0.895	T	0.002	T	0.217	1.221	9.955	0.242	0.156	-0.557	6.107	0.030	.	0.0002	0.00239617	0.0037	0	0	0	0	0.0001	0.0053	0.0090	0.0006598	102	154602	rs2361558	0.0010	0.0010	0.0008	0.0012	0.0092	0.0009	0.0009	0.0086	0.0084	0.0001	0.0002	0	0.0002	6.088e-05	0.0037	0.0005	0.0009	0.0092	0.0007	0.0007	0.0006	0.0008	0.0106	0.0006	0.0005	0.0083	0.0075	0.0002	0	0.0002	0.0003	0.0008	0	0	0.0004	0.0019	0.0106	0.331	0.13088	T	0.188	0.28669	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.73	0.00718	T	-2.44	0.53420	N	0.114	0.10198	-0.8948	0.48502	T	0.002	0.00769	T	9	0.00880295	0.00199	T	.	.	.	0.030	0.07022	.	.	0.0138822411134	0.00435	0.42401353879973813	0.42318	.	.	0.301901340485	0.10684	T	.	.	.	-0.642795	0.00080	T	-0.690275	0.06373	T	0.00751033893248963	0.00087	T	0.555444	0.19245	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.41495	B	.;.	.;.	0.687277	0.10558	7.267	0.86566229100844183	0.16622	0.03546	0.08744	N	AEFBI	0.037680	0.05218	N	-1.41366592332775	0.02518	0.1113028	-1.45502494045766	0.02725	0.1258528	1.67188451860623E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	3.6	0.242	0.14759	-0.482000	0.06623	.	.	-2.859000	0.00171	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6639:0.0:0.3361	6.107	0.19301	994	0.00715	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	0.07143	3807.66	36	chr19	54074944	.	C	T	3807.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.56;DP=1011;ExcessHet=0.0000;FS=2.697;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=19.53;ReadPosRankSum=-8.860e-01;SOR=0.919	GT:AD:DP:GQ:PL	0/1:61,53:114:99:1383,0,1400	19	1	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|1:38,6:44:99:0|1:54221256_T_C:138,0,1578:54221256	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|1:43,4:47:38:0|1:54221256_T_C:38,0,1759:54221256	19	0	2	0
chr19	54596327	54596327	C	T	exonic	LILRA1	.	nonsynonymous SNV	LILRA1:NM_001278319:exon6:c.C1097T:p.P366L	.	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.25	B	0.35	B	0.126	N	1.000	N	0.99	L	3.83	T	-0.968	T	0.013	T	0.262	0.518	6.809	-3.24	-1.268	-0.465	0.665	0.034	0.00143591266325	.	0.000399361	7.413e-05	0	0	0	0	1.498e-05	0	0.0005	7.12e-05	11	154602	rs554043948	2.257e-05	2.257e-05	1.497e-05	3.025e-05	0.0003	1.61e-05	1.416e-05	0.0002	0.0002	0	2.236e-05	0	0	1.872e-05	0.0002	1.799e-06	4.967e-05	0.0003	3.285e-05	3.281e-05	1.285e-05	5.376e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.032	0.44694	D	0.048	0.48594	D	0.25	0.31189	B	0.35	0.42815	B	0.126013	0.02767	N	1.974330	1	0.08975	N	1.485	0.37223	L	3.83	0.03702	T	-7.4	0.94758	D	0.198	0.21839	-0.9684	0.37530	T	0.013	0.05081	T	10	0.035336643	0.01777	T	0.001436	0.02139	T	0.034	0.08419	0.464	0.53404	0.134241683229	0.13084	0.04199131306620813	0.04144	0.0697144865559	0.07804	0.29186630249	0.09194	T	0.007355	0.06771	T	-0.495442	0.00606	T	-0.644897	0.09315	T	0.157549326576416	0.17688	T	.	.	.	0.090210214	0.21101	0.09430834	0.22317	0.090210214	0.21101	0.09430834	0.22316	-6.314	0.48832	T	.	.	0.123	0.25850	B	.	.	-0.326753	0.02501	0.295	0.83458911366496524	0.14737	0.00934	0.03615	N	AEFDBI	0.066251	0.12965	N	-1.35253412737204	0.03099	0.1378836	-1.53996371092757	0.02045	0.0935204	0.234367325899888	0.18501	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.62	-3.24	0.04779	-2.998000	0.00718	.	.	-0.268000	0.06776	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3963:0.247:0.1972:0.1594	0.665	0.00795	946	0.12043	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4901.98	37	chr19	54596327	.	C	T	4901.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.922;DP=1141;ExcessHet=0.0000;FS=1.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.97;MQRankSum=1.03;QD=12.83;ReadPosRankSum=1.74;SOR=0.779	GT:AD:DP:GQ:PL	0/1:187,195:382:99:4916,0,4741	20	0	1	0
chr19	54633108	54633108	T	C	exonic	LILRB1	.	nonsynonymous SNV	LILRB1:NM_001081637:exon7:c.T1051C:p.W351R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.005	B	0.000	N	1.000	N	0.64	N	4.11	T	-0.937	T	0.006	T	0.074	-0.437	1.968	-4.16	-1.178	-4.299	2.666	0.016	0.000983764574232	.	.	3.295e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs765206177	1.262e-05	1.321e-05	1.117e-05	1.408e-05	0.0002	7.89e-06	6.51e-06	0.0001	8.812e-05	3.147e-05	0	0	0	0	0	0	3.399e-05	0.0002	2.098e-05	2.088e-05	2.735e-05	1.431e-05	0.0007	5.58e-06	2.55e-06	0.0002	9.61e-05	0	0	0	0	0	0	0	0	0	0.0007	0.426	0.09746	T	0.473	0.12281	T	0.0	0.02946	B	0.002	0.06944	B	0.000057	0.00387	N	14.826600	1	0.08975	N	.	.	.	4.11	0.02916	T	-1.47	0.45042	N	0.058	0.03175	-0.9373	0.43041	T	0.006	0.02168	T	10	0.032902986	0.01452	T	9.84E-4	0.01026	T	0.016	0.02506	0.42	0.46200	0.355658859761	0.35178	0.06504777047916012	0.06443	0.0951957454739	0.10748	0.260372936726	0.04935	T	0.003953	0.03423	T	-0.602758	0.00140	T	-0.799049	0.01926	T	0.0297089204965355	0.01945	T	0.0123321	0.00111	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.48827	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.464652	0.01982	0.173	0.27383360219759167	0.01357	0.00158	0.00946	N	AEFDBHCI	0.036166	0.04774	N	-2.07763132330582	0.00143	0.006134361	-2.16231796484525	0.00136	0.005972342	0.998419139002024	0.36924	0.645754	0.44609	0	0.696144	0.67643	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	2.25	-4.16	0.03606	-3.674000	0.00445	.	.	-1.333000	0.01212	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3566:0.2413:0.0:0.4021	2.666	0.04739	809	0.43032	Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	75915.23	337	chr19	54633108	.	T	G,C	75915.23	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=1.38;DP=7609;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.452,0.024;MQ=57.07;MQRankSum=-1.416e+01;QD=10.13;ReadPosRankSum=3.92;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:301,131,0:432:99:0|1:54633108_T_G:4595,0,12045,5501,12439,17940:54633108	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	0/1:348,107:455:99:1725,0,10064	4	0	16	1
chr19	54742019	54742019	C	T	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon3:c.C110T:p.P37L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.181	B	0.069	B	.	.	1.000	N	2.52	M	5.76	T	-1.016	T	0.017	T	0.347	0.259	5.400	0.507	0.253	1.801	5.886	0.076	0.00102173653182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.394e-07	7.092e-07	0	1.485e-06	2.396e-05	0	0	.	.	0	2.396e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.01	0.65728	D	0.181	0.29111	B	0.041	0.23986	B	.	.	.	.	1	0.08975	N	2.56	0.74772	M	3.95	0.03382	T	-6.54	0.91786	D	0.223	0.25006	-1.0164	0.24884	T	0.017	0.06807	T	9	0.12389034	0.23525	T	0.001022	0.01120	T	0.076	0.22200	0.37	0.38013	0.335164054921	0.33125	0.19209035572317168	0.19127	1.791941562	0.91524	.	.	.	0.020233	0.15966	T	-0.175002	0.24481	T	-0.489154	0.23479	T	0.20912588440861	0.20907	T	.	.	.	0.17275815	0.37985	0.1681736	0.38757	0.17275815	0.37985	0.1681736	0.38756	-8.822	0.66544	D	.	.	0.125	0.26514	B	.	.	1.590162	0.20337	14.70	0.57320471306848364	0.05743	0.01560	0.05104	N	AEFI	0.030433	0.03063	N	-1.06537834965913	0.07289	0.338164	-1.21954413589658	0.05596	0.2670848	1.74798417143001E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.6	0.507	0.16168	1.859000	0.39058	.	.	0.303000	0.18983	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.0:0.6648:0.3352:0.0	5.886	0.18127	964	0.07719	Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	38391.65	39	chr19	54742019	.	C	G,T	38391.65	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-4.248e+00;DP=5023;ExcessHet=10.5502;FS=2.011;InbreedingCoeff=-0.4135;MLEAC=15,1;MLEAF=0.357,0.024;MQ=49.81;MQRankSum=0.016;QD=8.38;ReadPosRankSum=0.547;SOR=0.509	GT:AD:DP:GQ:PL	0/1:205,112,0:317:99:2495,0,6325,3111,6661,9773	6	0	14	0
chr19	54752378	54752378	A	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.A885T:p.E295D,	.	.	438	644	313	127	0	567	0.30566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.927	P	0.953	D	.	.	1.000	N	1.66	L	7.17	T	-0.907	T	0.003	T	0.251	0.161	4.868	-1.94	-0.713	0.615	4.008	0.053	0.000595427967978	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs76449138	0.0004	0.0045	0.0003	0.0006	0.0014	0.0004	0.0004	0.0012	0.0011	0.0009	0.0007	0.0004	0.0002	0.0006	0	0.0003	0.0006	0.0014	0.0004	0.0045	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0.0006	0.017	0.51248	D	0.362	0.16865	T	0.009	0.15093	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	7.17	0.00438	T	-1.3	0.32590	N	0.03	0.00717	-0.9072	0.47191	T	0.003	0.00800	T	9	0.06407854	0.08444	T	5.95E-4	0.00260	T	0.053	0.14996	0.345	0.33950	0.315609569513	0.31162	0.055351736594923893	0.05476	0.156621518827	0.17680	.	.	.	0.006609	0.06037	T	-0.243919	0.14853	T	-0.588149	0.13826	T	0.1719860881567	0.18714	T	.	.	.	0.072928816	0.16260	0.055293426	0.09672	0.072928816	0.16260	0.055293426	0.09672	-5.957	0.45918	T	.	.	0.102	0.17785	B	.	.	0.393611	0.07651	4.319	0.83992659330197972	0.15036	0.00398	0.01994	N	AEFI	0.034546	0.04300	N	-1.14210111889885	0.05910	0.2707387	-1.35039455156555	0.03801	0.1780508	3.36295698448585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-1.94	0.07158	0.608000	0.23921	.	.	0.538000	0.25075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3959:0.0:0.0:0.6041	4.008	0.09100	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	21150.31	340	chr19	54752378	.	A	T	21150.31	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-3.320e+00;DP=5262;ExcessHet=5.2939;FS=0.000;InbreedingCoeff=-0.2512;MLEAC=17;MLEAF=0.425;MQ=55.87;MQRankSum=-1.639e+01;QD=5.39;ReadPosRankSum=2.32;SOR=0.699	GT:AD:DP:GQ:PL	0/1:238,68:306:99:896,0,6870	6	2	12	1
chr19	54752434	54752434	G	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G941C:p.R314T,	.	.	440	676	290	116	0	522	0.278549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.137	B	0.073	B	.	.	1.000	N	1.885	L	7.21	T	-0.958	T	0.001	T	0.079	-0.731	0.875	-2.12	-2.428	-1.068	4.380	0.018	0.000504783109797	.	.	9.107e-06	0	0	0	0	1.648e-05	0	0	0	0	26028	rs369659451	0.0001	0.0011	8.786e-05	0.0001	0.0006	0.0001	9.738e-05	0.0005	0.0004	0.0003	0.0001	0	0	0.0002	0.0002	8.061e-05	0.0001	0.0006	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.336	0.18232	T	0.038	0.21002	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	7.21	0.00433	T	-1.76	0.41618	N	0.15	0.15328	-0.9578	0.39589	T	0.001	0.00438	T	9	0.055743694	0.06139	T	5.05E-4	0.00153	T	0.018	0.03083	0.358	0.36060	0.197625483188	0.19356	0.07934385317345088	0.07869	0.381999604534	0.39540	.	.	.	0.008653	0.07927	T	-0.372433	0.03472	T	-0.772751	0.02679	T	0.0711279924993857	0.08808	T	.	.	.	0.058790613	0.11869	0.056505527	0.10109	0.058790613	0.11869	0.056505527	0.10109	-8.83	0.66596	D	.	.	0.103	0.18456	B	.	.	-0.693291	0.01336	0.074	0.50922294396745071	0.04470	0.00271	0.01473	N	AEFI	0.037209	0.05083	N	-1.83575514742651	0.00463	0.01994319	-2.00237195100838	0.00303	0.01337074	0.00114747052574219	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.12	0.06766	-2.589000	0.00974	.	.	-2.077000	0.00405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2846:0.2349:0.4805:0.0	4.380	0.10722	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	28617.15	340	chr19	54752434	.	G	C	28617.15	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-1.210e+00;DP=6144;ExcessHet=5.2939;FS=7.479;InbreedingCoeff=-0.2500;MLEAC=17;MLEAF=0.425;MQ=56.79;MQRankSum=-1.832e+01;QD=6.00;ReadPosRankSum=1.58;SOR=1.014	GT:AD:DP:GQ:PL	0/1:314,63:377:99:1539,0,8819	6	2	12	1
chr19	54752445	54752445	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C952T:p.R318C,	.	.	444	649	317	112	0	541	0.294182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.006	B	0.003	B	.	.	1.000	N	1.1	L	7.14	T	-0.946	T	0.001	T	0.168	-0.325	2.456	-1.82	-2.219	0.300	4.091	0.046	0.000730226801608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372921221	7.35e-05	0.0008	5.213e-05	9.518e-05	0.0004	6.171e-05	5.67e-05	0.0003	0.0002	0.0004	0.0001	4.416e-05	2.548e-05	0.0001	0	4.228e-05	3.658e-05	0.0004	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.101	0.38596	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.14	0.00441	T	-1.73	0.41046	N	0.081	0.05670	-0.9462	0.41615	T	0.001	0.00318	T	9	0.07376027	0.11187	T	7.3E-4	0.00491	T	0.046	0.12618	.	.	0.190952846119	0.18690	0.08507494458604588	0.08441	0.272347824251	0.29747	.	.	.	0.006919	0.06344	T	-0.301136	0.08553	T	-0.670337	0.07586	T	0.0816786993696317	0.10202	T	.	.	.	0.06286794	0.13178	0.048082765	0.07066	0.06286794	0.13177	0.048082765	0.07066	-8.692	0.65693	D	.	.	0.085	0.10159	B	.	.	0.663279	0.10314	7.048	0.77161828724750081	0.11761	0.00606	0.02697	N	AEFI	0.056180	0.10365	N	-1.90787109037655	0.00331	0.01420744	-2.03030551184277	0.00264	0.01165071	5.65618134037242E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-0.238000	0.08995	.	.	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2329:0.4799:0.2873:0.0	4.091	0.09446	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	33791.15	340	chr19	54752445	.	C	T	33791.15	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.020e-01;DP=6238;ExcessHet=5.2939;FS=10.711;InbreedingCoeff=-0.2500;MLEAC=17;MLEAF=0.425;MQ=56.95;MQRankSum=-1.853e+01;QD=6.90;ReadPosRankSum=-2.400e-01;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:329,59:388:99:0|1:54752445_C_T:1487,0,13543:54752445	6	2	12	1
chr19	54752485	54752485	T	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.T992C:p.I331T,	.	.	458	776	181	107	0	395	0.202876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.001	B	0.004	B	.	.	1.000	N	0.74	N	7.07	T	-0.942	T	0.001	T	0.034	-1.003	0.256	-0.268	-0.552	-0.743	3.096	0.014	0.000598353408358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781524573	5.305e-06	0.0001	4.511e-06	6.112e-06	2.86e-05	2.21e-06	1.42e-06	4.75e-06	1.78e-06	0	0	0	0	5.995e-05	0	1.979e-06	0	2.86e-05	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.744	0.03653	T	0.196	0.27943	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	7.07	0.00449	T	1.38	0.00857	N	0.023	0.00407	-0.9420	0.42298	T	0.001	0.00318	T	9	0.04724872	0.04019	T	5.98E-4	0.00274	T	0.014	0.01968	0.471	0.54537	0.15556083564	0.15200	0.03272981040342714	0.03220	0.11650274929	0.13144	.	.	.	0.002103	0.01509	T	-0.435909	0.01367	T	-0.863929	0.00802	T	0.0462318255409502	0.04826	T	.	.	.	0.029743398	0.02519	0.04760247	0.06891	0.029743398	0.02518	0.04760247	0.06890	-0.729	0.00744	T	.	.	0.056	0.00487	B	.	.	-0.452449	0.02024	0.181	0.28219194255820729	0.01438	0.00196	0.01131	N	AEFI	0.020637	0.00835	N	-1.78857713604755	0.00574	0.02471146	-1.87148925175353	0.00557	0.02469536	2.05976653641204E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-0.268	0.12295	-0.692000	0.05228	.	.	-3.068000	0.00129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3083:0.394:0.2977	3.096	0.05931	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.375	17127.06	73	chr19	54752485	.	T	C	17127.06	.	AC=15;AF=0.375;AN=40;BaseQRankSum=1.81;DP=4524;ExcessHet=3.6553;FS=28.218;InbreedingCoeff=-0.1733;MLEAC=16;MLEAF=0.400;MQ=57.11;MQRankSum=-1.853e+01;QD=4.19;ReadPosRankSum=-2.676e+00;SOR=2.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:330,32:362:99:0|1:54752482_T_C:350,0,13655:54752482	7	2	11	1
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	10320.24	37	chr19	54760643	.	A	G	10320.24	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.066e+00;DP=4116;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4489;MLEAC=13;MLEAF=0.310;MQ=53.53;MQRankSum=-6.940e+00;QD=3.09;ReadPosRankSum=-1.857e+00;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,26:177:99:0|1:54760643_A_G:597,0,6077:54760643	8	0	13	0
chr19	54760651	54760651	G	C	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	415	680	427	0	0	427	0.238948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341664073	1.26e-05	0.0001	6.969e-06	1.828e-05	0.0002	7.87e-06	6.5e-06	7.234e-05	5.562e-05	0.0002	2.285e-05	0	0	0	0	9.212e-07	0	0.0001	2.732e-05	0.0006	1.334e-05	4.198e-05	0.0001	8.38e-06	5.3e-06	3.332e-05	1.97e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	11917.16	37	chr19	54760651	.	G	C	11917.16	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.207e+00;DP=4125;ExcessHet=11.8493;FS=0.785;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=54.02;MQRankSum=-7.539e+00;QD=3.52;ReadPosRankSum=-5.850e-01;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,28:176:99:0|1:54760643_A_G:649,0,6011:54760643	8	0	13	0
chr19	54760665	54760665	T	C	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	418	625	479	0	0	479	0.277039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162810689	1.118e-05	5.691e-05	8.35e-06	1.404e-05	0.0002	6.62e-06	5.36e-06	0.0001	8.77e-05	0	2.281e-05	0	0	0	0	0	0	0.0002	0	7.312e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	14816.48	37	chr19	54760665	.	T	C	14816.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.128e+00;DP=4120;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=54.82;MQRankSum=-8.959e+00;QD=3.99;ReadPosRankSum=1.59;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,29:181:99:0|1:54760665_T_C:760,0,6216:54760665	7	0	14	0
chr19	54760676	54760676	T	A	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	427	600	495	0	0	495	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252325157	1.398e-05	8.023e-05	9.746e-06	1.826e-05	0.0002	9.13e-06	7.42e-06	0.0001	0.0001	0	2.283e-05	0	0	0	0	0	1.692e-05	0.0002	0	7.986e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15285.48	37	chr19	54760676	.	T	A	15285.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.658e+00;DP=4024;ExcessHet=14.4320;FS=0.732;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=55.58;MQRankSum=-9.713e+00;QD=4.21;ReadPosRankSum=2.84;SOR=0.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,29:175:99:0|1:54760665_T_C:778,0,6023:54760665	7	0	14	0
chr19	54760692	54760692	A	G	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	419	580	521	2	0	525	0.311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411892976	4.767e-05	0.0002	3.349e-05	6.197e-05	0.0006	3.82e-05	3.496e-05	0.0004	0.0004	0	2.29e-05	0	0	0	0.0002	1.384e-05	6.786e-05	0.0006	0	9.992e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15714.52	37	chr19	54760692	.	A	G	15714.52	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.369e+00;DP=3836;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5003;MLEAC=14;MLEAF=0.333;MQ=56.22;MQRankSum=-1.158e+01;QD=4.47;ReadPosRankSum=4.04;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,29:184:99:0|1:54760692_A_G:751,0,6330:54760692	7	0	14	0
chr19	54760695	54760695	T	C	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	420	579	521	2	0	525	0.311943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406047822	3.998e-05	0.0001	2.094e-05	5.918e-05	0.0006	3.124e-05	2.853e-05	0.0005	0.0004	0	2.291e-05	0	0	0	0	0	5.092e-05	0.0006	0	9.996e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15927.52	37	chr19	54760695	.	T	C	15927.52	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.378e+00;DP=3798;ExcessHet=14.4320;FS=0.728;InbreedingCoeff=-0.5003;MLEAC=14;MLEAF=0.333;MQ=56.26;MQRankSum=-1.138e+01;QD=4.62;ReadPosRankSum=4.12;SOR=0.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,29:176:99:0|1:54760692_A_G:775,0,6085:54760692	7	0	14	0
chr19	54769866	54769866	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon1:c.G16A:p.V6I	.	.	423	1018	81	0	0	81	0.0382617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.013	B	0.009	B	.	.	1.000	N	0.72	N	7.18	T	-0.961	T	0.001	T	0.161	-0.160	3.220	-1.03	-0.402	-0.324	.	0.017	0.0082991101408	.	.	4.241e-05	0.0002	8.884e-05	0	0	3.095e-05	0	0	0.0005692	88	154602	rs375195215	0.0002	0.0019	0.0002	0.0003	0.0009	0.0002	0.0002	0.0007	0.0006	0.0006	0.0009	0.0007	2.545e-05	0.0004	0.0002	0.0002	0.0002	0.0004	0.0005	0.0063	0.0005	0.0005	0.0011	0.0004	0.0004	0.0008	0.0007	0.0011	0	0.0004	0	0	0.0005	0	0.0003	0	0.0010	0.112	0.30235	T	0.681	0.10245	T	0.013	0.16609	B	0.009	0.14300	B	.	.	.	.	0.999974	0.81001	N	.	.	.	7.18	0.00438	T	-0.52	0.16393	N	0.078	0.05287	-0.9611	0.38974	T	0.001	0.00287	T	8	0.042778373	0.03059	T	0.008299	0.21979	T	0.017	0.02790	.	.	0.163833314356	0.15978	0.07523266231580931	0.07459	0.258293071172	0.28385	0.446146994829	0.31418	T	0.011846	0.10509	T	-0.454054	0.01069	T	-0.653325	0.08723	T	0.0061362524239717	0.00068	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.15564	B	.;.	.;.	0.228841	0.06102	2.548	0.76514937681009665	0.11499	0.00123	0.00769	N	AEFBI	0.020265	0.00784	N	-1.40368950837253	0.02606	0.1153194	-1.52506351735761	0.02152	0.098572	2.19688426057424E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	0.514	-1.03	0.09586	0.333000	0.19512	.	.	-1.352000	0.01191	0.021000	0.19753	0.000000	0.08366	0.002000	0.04165	.	.	.	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	0.1053	440.06	36	chr19	54769866	.	G	A	440.06	.	AC=4;AF=0.105;AN=38;BaseQRankSum=4.52;DP=3805;ExcessHet=0.6776;FS=4.677;InbreedingCoeff=-0.1398;MLEAC=4;MLEAF=0.105;MQ=57.10;MQRankSum=-7.783e+00;QD=0.54;ReadPosRankSum=-2.840e+00;SOR=1.382	GT:AD:DP:GQ:PL	0/1:166,18:184:61:61,0,6524	15	0	4	2
chr19	54773464	54773464	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.G202C:p.D68H	.	.	425	856	241	0	0	241	0.1234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.444	B	0.198	B	.	.	1.000	N	1.695	L	2.03	T	-1.006	T	0.041	T	0.396	0.186	5.000	-1.93	-0.374	-0.063	2.604	0.038	0.000804883088689	.	.	.	.	.	.	.	.	.	.	.	.	.	rs745536485	6.26e-06	0.0002	5.539e-06	6.987e-06	2.264e-05	2.95e-06	2.13e-06	3.15e-06	2.28e-06	0	2.264e-05	0	0	0	0	7.325e-06	0	0	0.0001	0.0024	0.0001	0.0001	0.0004	7.39e-05	6.091e-05	8.225e-05	5.802e-05	0.0002	0	0.0002	0	0	0	0	7.634e-05	0	0.0004	0.064	0.38407	T	0.247	0.23914	T	0.444	0.35956	B	0.198	0.36766	B	.	.	.	.	1	0.08975	N	.	.	.	2.03	0.20959	T	-2.52	0.54702	D	0.188	0.25130	-1.0056	0.28277	T	0.041	0.17657	T	9	0.1068652	0.19824	T	8.05E-4	0.00629	T	0.038	0.09825	0.276	0.22845	0.283761946502	0.27984	0.08192545392014942	0.08127	0.476618817085	0.46789	0.428809553385	0.29046	T	0.010046	0.09105	T	-0.210968	0.19242	T	-0.540818	0.18217	T	0.0742162314790902	0.09230	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.29833	B	.;.	.;.	0.494158	0.08635	5.403	0.86631705629094091	0.16667	0.00709	0.03002	N	AEFDBI	0.050506	0.08834	N	-0.947669841844548	0.09745	0.4625647	-1.15399594513377	0.06696	0.3231991	1.94292267281438E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	-1.93	0.07180	-0.459000	0.06805	.	.	-0.401000	0.05297	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2328:0.3114:0.4559:0.0	2.604	0.04579	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	14619.01	48	chr19	54773464	.	G	C	14619.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=4.28;DP=7976;ExcessHet=4.7172;FS=6.777;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=57.69;MQRankSum=-1.747e+01;QD=2.88;ReadPosRankSum=-1.077e+00;SOR=1.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:402,95:497:99:0|1:54773456_T_C:2643,0,15986:54773456	12	0	9	0
chr19	54773510	54773510	C	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.C248G:p.A83G	.	.	428	768	326	0	0	326	0.175081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.1	B	0.33	B	.	.	1.000	N	2.97	M	2.06	T	-0.864	T	0.092	T	0.345	0.514	6.788	0.116	0.106	0.120	3.815	0.067	0.00119558056772	.	.	.	.	.	.	.	.	.	.	.	.	.	rs530076007	0.0001	0.0040	0.0002	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0.0002	0	2.556e-05	1.91e-05	0	0.0002	0.0001	0.0001	4.77e-05	0.0026	2.662e-05	6.981e-05	0.0002	2.18e-05	1.572e-05	1.992e-05	1.052e-05	7.514e-05	0	0	0	0.0002	0	0	4.565e-05	0	0	0.053	0.40832	T	0.104	0.38160	T	0.1	0.25713	B	0.33	0.42079	B	.	.	.	.	1	0.08975	N	.	.	.	2.06	0.20523	T	-2.38	0.52451	N	0.208	0.23758	-0.8637	0.50995	T	0.092	0.35119	T	9	0.13614216	0.25903	T	0.001196	0.01533	T	0.067	0.19503	0.605	0.73706	0.405150804464	0.40131	0.04592118071307132	0.04536	0.346524564405	0.36559	0.357214689255	0.18980	T	0.045691	0.27199	T	-0.175925	0.24344	T	-0.490481	0.23340	T	0.2225591391325	0.21591	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.32922	B	.;.	.;.	1.122996	0.15092	11.58	0.93936832440862883	0.23989	0.00979	0.03733	N	AEFDBI	0.047211	0.07926	N	-0.935946201820849	0.10011	0.4763772	-1.14448522620441	0.06868	0.3320446	1.159795150757E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	0.116	0.13953	0.259000	0.18174	.	.	-0.444000	0.05162	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.7435:0.0:0.2565	3.815	0.08327	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	25978.01	48	chr19	54773510	.	C	G	25978.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.190e+00;DP=8922;ExcessHet=4.7172;FS=3.446;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=57.57;MQRankSum=-2.189e+01;QD=4.42;ReadPosRankSum=1.88;SOR=1.040	GT:AD:DP:GQ:PL	0/1:441,143:584:99:4207,0,12321	12	0	9	0
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	0/1:135,96,10:241:99:.:.:2335,0,3459,2549,3675,9478	8	1	9	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V	.	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.011	B	0.009	B	0.168	N	1.000	N	0.08	N	2.74	T	-1.017	T	0.015	T	0.072	-2.393	0.003	-0.275	-0.112	-0.220	3.173	0.014	0.000896150500463	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs377158496	7.372e-05	0.0003	4.11e-05	0.0001	0.0004	6.225e-05	5.782e-05	6.542e-05	6.1e-05	0	0	3.935e-05	7.58e-05	0.0001	0.0004	7.939e-05	8.332e-05	3.521e-05	1.994e-05	0.0009	1.3e-05	2.72e-05	0.0004	5.3e-06	2.47e-06	7.542e-05	3.122e-05	0	0	0	0	0	9.517e-05	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.167963	0.03088	N	2.088310	1	0.08975	N	-0.475	0.02701	N	2.74	0.11730	T	0.19	0.06868	N	0.074	0.06587	-1.0167	0.24787	T	0.015	0.06282	T	10	0.027635008	0.00906	T	8.96E-4	0.00822	T	0.014	0.01968	.	.	0.143184338766	0.13958	0.03977817011760987	0.03923	1.56059685374	0.88033	.	.	.	.	.	.	-0.414852	0.01846	T	-0.833683	0.01198	T	0.0837077051401138	0.10455	T	.	.	.	.	.	.	.	.	.	.	.	-1.865	0.02998	T	.	.	0.077	0.08899	B	.;.;.;.	.;.;.;.	-0.512683	0.01826	0.145	0.81087781055770536	0.13513	0.00133	0.00820	N	AEFDBI	0.025271	0.01704	N	-1.41486537055219	0.02508	0.1108357	-1.45837055724275	0.02695	0.1244398	1.6772618897357E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-0.275	0.12268	-1.056000	0.03600	.	.	-1.196000	0.01368	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.6062:0.0:0.3938:0.0	3.173	0.06167	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3421	12807.67	37	chr19	54805068	.	A	G	12807.67	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.640e+00;DP=4275;ExcessHet=11.8493;FS=4.752;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.368;MQ=58.95;MQRankSum=-1.149e+01;QD=3.70;ReadPosRankSum=0.620;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:236,27:263:99:.:.:426,0,6527	6	0	13	2
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F	.	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.198	B	0.327	B	.	.	1.000	N	2.125	M	5.76	T	-0.946	T	0.005	T	0.221	0.808	8.245	-0.172	-0.120	0.024	3.728	0.026	0.000412457697702	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs548305067	6.874e-07	4.789e-06	0	1.382e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	0	2.635e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.083	0.33091	T	0.185	0.45744	T	0.029	0.25941	B	0.11	0.35187	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	5.76	0.00695	T	-2.94	0.62863	D	0.143	0.19055	-0.9456	0.41715	T	0.005	0.01651	T	9	0.09953773	0.18069	T	4.12E-4	0.00078	T	0.026	0.05648	.	.	0.0934897674506	0.08844	0.027781850178691565	0.02728	1.64456428975	0.89413	.	.	.	.	.	.	-0.296197	0.09024	T	-0.663243	0.08049	T	0.040030807459604	0.03696	T	.	.	.	.	.	.	.	.	.	.	.	-6.322	0.59734	T	.	.	0.166	0.39731	B	.;.;.;.;.;.	.;.;.;.;.;.	1.365047	0.17746	13.34	0.8690361499563457	0.16852	0.00313	0.01653	N	AEFDBI	0.037221	0.05085	N	-0.949558894302633	0.09702	0.4603585	-1.11896342680627	0.07338	0.3565461	1.17956831403963E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.172	0.12673	-0.279000	0.08512	.	.	-0.540000	0.04934	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5945:0.4055:0.0:0.0	3.728	0.08011	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	9084.15	108	chr19	54805957	.	A	T	9084.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=5.15;DP=4262;ExcessHet=11.8493;FS=0.848;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.77;MQRankSum=-1.667e+01;QD=2.69;ReadPosRankSum=1.69;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:295,26:321:99:0|1:54805940_TCTC_T:204,0,12309:54805940	8	0	13	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G	.	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.007	B	0.006	B	.	.	1.000	N	0.675	N	5.81	T	-0.937	T	0.002	T	0.192	0.190	5.025	-1.55	-0.654	-0.494	4.324	0.010	0.000765021981206	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs796298317	6.871e-07	4.789e-06	0	1.381e-06	9.009e-07	0	0	.	.	0	0	0	0	0	0	9.009e-07	0	0	0	2.634e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.122	0.27663	T	0.119	0.39190	T	0.007	0.14184	B	0.002	0.12133	B	.	.	.	.	1	0.08975	N	-0.045	0.04980	N	2.62	0.12988	T	-3.74	0.71042	D	0.211	0.23506	-0.9370	0.43088	T	0.002	0.00676	T	9	0.05600232	0.06209	T	7.65E-4	0.00549	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.06409426405292065	0.06348	1.75526258725	0.91031	.	.	.	.	.	.	-0.331698	0.05984	T	-0.714237	0.05079	T	0.0368346457453638	0.03126	T	.	.	.	.	.	.	.	.	.	.	.	-2.952	0.34463	T	.	.	0.072	0.17103	B	.;.;.;.;.;.	.;.;.;.;.;.	0.634502	0.10029	6.781	0.88093227450565881	0.17711	0.00125	0.00780	N	AEFDBI	0.028794	0.02603	N	-1.26647521352365	0.04087	0.1837661	-1.38178856189957	0.03446	0.1607592	2.06444612407306E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.55	0.08105	-0.492000	0.06547	.	.	-1.507000	0.01020	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5179:0.0:0.4821:0.0	4.324	0.10473	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	9747.15	108	chr19	54805960	.	A	G	9747.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.407;DP=4341;ExcessHet=11.8493;FS=1.800;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.74;MQRankSum=-1.688e+01;QD=2.82;ReadPosRankSum=1.56;SOR=0.860	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:297,28:325:99:0|1:54805940_TCTC_T:282,0,12387:54805940	8	0	13	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S	.	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.001	B	0.001	N	1.000	N	-2.79	N	2.73	T	-0.875	T	0.006	T	0.022	-2.303	0.004	-0.047	-0.086	0.239	3.134	0.102	0.00369938800555	.	.	5.567e-05	0	0.0007	0	0	0	0	0	.	.	.	rs748394765	3.431e-06	1.3e-05	4.096e-06	2.759e-06	2.701e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	3.326e-05	0	6.662e-06	6.588e-05	1.3e-05	0	6.616e-05	0	0	.	.	0	0	6.616e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.001108	0.00740	N	7.200430	1	0.08975	N	-3.165	0.00009	N	2.73	0.11839	T	1.22	0.01712	N	0.056	0.03613	-0.8748	0.50166	T	0.006	0.01870	T	10	0.013647258	0.00289	T	0.003699	0.08558	T	0.102	0.29158	.	.	0.143184338766	0.13958	0.027044094549388754	0.02654	1.39109223815	0.85005	.	.	.	.	.	.	-0.462046	0.00955	T	-0.901474	0.00492	T	0.0748926305845455	0.09321	T	.	.	.	.	.	.	.	.	.	.	.	-0.763	0.00889	T	.	.	0.064	0.05845	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.834838	0.01040	0.044	0.53029054606884674	0.04860	0.00012	0.00170	N	AEFDBI	0.015392	0.00291	N	-2.01882774161932	0.00193	0.008257516	-1.94356271259806	0.00400	0.01770385	1.17063954684405E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.0469	0.13174	0.292000	0.18766	.	.	-0.624000	0.04539	0.002000	0.15269	0.000000	0.08366	0.005000	0.06747	0.3872:0.0:0.0:0.6128	3.134	0.06046	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	15353.15	108	chr19	54805974	.	A	T	15353.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=5.50;DP=4725;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.65;MQRankSum=-1.628e+01;QD=4.01;ReadPosRankSum=0.664;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:320,50:370:99:0|1:54805940_TCTC_T:1136,0,13286:54805940	8	0	13	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q	.	.	421	659	441	1	0	443	0.251562	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.02	B	0.001	B	0.465	N	1.000	N	-2.62	N	2.75	T	-0.952	T	0.004	T	0.043	-2.074	0.006	-1.94	-0.822	-1.007	1.446	0.013	0.000941604155589	.	.	0.0003	0	0.0013	0	0	0.0002	0	0.0016	0.001921	50	26028	rs202246882	5.279e-05	6.294e-05	3.955e-05	6.616e-05	0.0003	4.287e-05	3.961e-05	0.0002	0.0002	0	0.0001	0	7.564e-05	0	0.0002	3.51e-05	6.642e-05	0.0003	0.0001	0.0002	0.0001	0.0001	0.0008	8.284e-05	6.82e-05	0.0005	0.0004	7.44e-05	0	0.0008	0	0	0	0	2.956e-05	0	0.0004	1.0	0.00964	T	1.0	0.03910	T	0.0	0.13644	B	0.0	0.04355	B	0.464890	0.04891	N	1.542390	1	0.08975	N	-2.565	0.00047	N	2.75	0.11622	T	2.25	0.00472	N	0.04	0.03069	-0.9519	0.40643	T	0.004	0.01295	T	10	0.015721977	0.00330	T	9.42E-4	0.00934	T	0.013	0.01715	.	.	0.174091166621	0.17034	0.021095889007445256	0.02062	1.71924122415	0.90548	.	.	.	.	.	.	-0.714436	0.00030	T	-0.905433	0.00465	T	0.0501607574657884	0.05529	T	.	.	.	.	.	.	.	.	.	.	.	-0.217	0.00435	T	.	.	0.065	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.525354	0.01788	0.138	0.73410874544489724	0.10318	0.00030	0.00276	N	AEFDBI	0.021298	0.00932	N	-2.17374974192811	0.00088	0.003751786	-2.12833273597635	0.00161	0.007103925	2.59535722897861E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.94	0.07158	-1.595000	0.02196	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4314:0.0:0.2508:0.3177	1.446	0.02221	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	19196.15	108	chr19	54805981	.	G	A	19196.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=2.63;DP=5055;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.67;MQRankSum=-1.608e+01;QD=4.63;ReadPosRankSum=-2.990e-01;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:338,61:399:99:0|1:54805940_TCTC_T:1513,0,13909:54805940	8	0	13	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K	.	.	416	603	500	3	0	506	0.295561	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.077	B	0.073	B	0.219	U	1.000	N	2.025	M	2.69	T	-1.014	T	0.041	T	0.15	-0.307	2.540	-2.07	-1.920	-1.601	4.213	0.027	0.000600995199084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796139593	2.054e-06	2.189e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	6.586e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.466	0.21545	T	0.028	0.19712	B	0.019	0.26717	B	0.218530	0.03437	U	2.191760	1	0.08975	N	1.17	0.29769	L	2.69	0.12268	T	-0.65	0.22944	N	0.106	0.13484	-1.0136	0.25784	T	0.041	0.17446	T	10	0.07830647	0.12465	T	6.01E-4	0.00274	T	0.027	0.05988	.	.	0.15499578495	0.15088	0.030426962936334883	0.02991	1.86795582778	0.92482	.	.	.	.	.	.	-0.327326	0.06316	T	-0.707957	0.05402	T	0.07779072841769	0.09702	T	.	.	.	.	.	.	.	.	.	.	.	-3.072	0.14113	T	.	.	0.095	0.16143	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.261443	0.00472	0.010	0.57104873323543892	0.05696	0.00143	0.00871	N	AEFDBI	0.036756	0.04948	N	-1.49293136850256	0.01900	0.08334951	-1.67917428157046	0.01232	0.05552245	1.96384650934533E-4	0.05898	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-2.07	0.06873	-1.932000	0.01645	.	.	-5.196000	0.00013	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4754:0.2961:0.2285	4.213	0.09977	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3	25116.68	292	chr19	54806034	.	C	A	25116.68	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-1.535e+00;DP=7277;ExcessHet=9.6308;FS=2.369;InbreedingCoeff=-0.4237;MLEAC=12;MLEAF=0.300;MQ=57.67;MQRankSum=-1.709e+01;QD=5.20;ReadPosRankSum=1.71;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:401,91:492:99:0|1:54806034_C_A:2583,0,16474:54806034	8	0	12	1
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R	.	.	417	602	500	3	0	506	0.295906	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.004	B	0.02	B	0.219	N	1.000	N	-0.195	N	2.67	T	-0.982	T	0.015	T	0.086	-2.553	0.003	-1.76	-1.632	0.104	6.415	0.005	0.000698231574451	.	.	0	0	0	0	0	0	0	0	.	.	.	rs746343340	2.328e-05	5.747e-05	1.226e-05	3.441e-05	0.0003	1.676e-05	1.479e-05	0.0003	0.0002	0	0	0	0	0	0	2.699e-06	1.658e-05	0.0003	1.998e-05	0.0002	0	4.097e-05	0.0006	5.31e-06	2.47e-06	0.0002	9.372e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	0.716	0.08505	T	0.0	0.07471	B	0.002	0.19048	B	0.218530	0.03437	N	2.191760	1	0.08975	N	-0.41	0.02942	N	2.67	0.12473	T	0.01	0.11185	N	0.051	0.02861	-0.9819	0.34561	T	0.015	0.05849	T	10	0.022258013	0.00551	T	6.98E-4	0.00435	T	0.005	0.00259	.	.	0.20808081866	0.20439	0.018312308498273373	0.01785	1.62690945155	0.89163	.	.	.	.	.	.	-0.395299	0.02485	T	-0.805596	0.01766	T	0.0361073549231356	0.02999	T	.	.	.	.	.	.	.	.	.	.	.	-0.457	0.00626	T	.	.	0.059	0.01645	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.548845	0.01717	0.126	0.1435906815429033	0.00314	0.00175	0.01031	N	AEFDBI	0.030820	0.03175	N	-2.16967246651284	0.00090	0.003831711	-2.20712287736297	0.00108	0.004744652	1.07926449648836E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.76	0.07574	-0.066000	0.11556	.	.	-3.284000	0.00100	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7891:0.0:0.2109:0.0	6.415	0.20912	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3	25188.68	292	chr19	54806035	.	A	G	25188.68	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-1.795e+00;DP=7269;ExcessHet=9.6308;FS=2.369;InbreedingCoeff=-0.4237;MLEAC=12;MLEAF=0.300;MQ=57.69;MQRankSum=-1.721e+01;QD=5.19;ReadPosRankSum=1.92;SOR=0.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:404,92:496:99:0|1:54806034_C_A:2616,0,16597:54806034	8	0	12	1
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M	.	.	413	617	488	4	0	496	0.286705	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.022	B	0.06	B	0.022	N	1.000	N	-0.28	N	2.71	T	-0.951	T	0.016	T	0.09	-4.753	0.001	-2.09	-4.463	-0.751	4.6	0.009	0.000542649328314	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs112266387	6.846e-07	1.916e-05	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.643e-06	3.949e-05	0	1.361e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.265	0.28300	T	0.001	0.13644	B	0.005	0.26717	B	0.021564	0.01555	N	4.036070	1	0.08975	N	-1.185	0.00856	N	2.71	0.12055	T	0.58	0.03824	N	0.052	0.04913	-0.9508	0.40833	T	0.016	0.06329	T	10	0.01567614	0.00329	T	5.43E-4	0.00196	T	0.009	0.00846	.	.	0.158540857583	0.15491	0.022625134842526706	0.02214	1.56269628182	0.88057	.	.	.	.	.	.	-0.406495	0.02098	T	-0.821678	0.01419	T	0.0491104212058717	0.05343	T	.	.	.	.	.	.	.	.	.	.	.	-3.48	0.28982	T	.	.	0.069	0.06617	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.681431	0.00202	0.003	0.30573155537778873	0.01679	0.00033	0.00296	N	AEFDBI	0.022408	0.01117	N	-2.59438172759116	0.00009	0.0004174465	-2.64788836212231	0.00010	0.0004634108	0.947304446228941	0.27746	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-2.09	0.06831	-1.305000	0.02846	.	.	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4374:0.2279:0.3346	4.6	0.11740	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3158	22542.15	292	chr19	54806051	.	C	G	22542.15	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.004e+00;DP=7737;ExcessHet=9.6308;FS=2.445;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.342;MQ=57.95;MQRankSum=-1.708e+01;QD=4.53;ReadPosRankSum=3.86;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:400,86:486:99:0|1:54806034_C_A:2407,0,16537:54806034	7	0	12	2
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon4:c.484_485del:p.E162Sfs*3	.	.	409	636	474	3	0	480	0.273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.63e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	24607.11	292	chr19	54806072	.	GGA	G	24607.11	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.628;DP=7660;ExcessHet=11.8493;FS=3.525;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.97;MQRankSum=-1.728e+01;QD=4.45;ReadPosRankSum=2.39;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:417,84:501:99:0|1:54806034_C_A:2272,0,17257:54806034	8	0	13	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78	.	.	415	630	474	3	0	480	0.275862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	28945.47	292	chr19	54806075	.	A	AGG	28945.47	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-5.960e-01;DP=7796;ExcessHet=14.4320;FS=3.507;InbreedingCoeff=-0.5273;MLEAC=14;MLEAF=0.350;MQ=57.86;MQRankSum=-1.730e+01;QD=4.78;ReadPosRankSum=2.42;SOR=0.985	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:414,85:499:99:0|1:54806034_C_A:2323,0,17128:54806034	6	0	14	1
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P	.	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.024	B	0.044	B	.	.	1.000	N	0.83	L	5.72	T	-0.892	T	0.002	T	0.193	-1.464	0.019	-1.46	-2.181	-4.220	0.244	0.084	0.00126561986838	.	.	.	.	.	.	.	.	.	.	0.0108345	282	26028	rs112694450	2.054e-06	2.668e-05	1.362e-06	2.752e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.176	0.28772	T	0.247	0.31026	T	0.008	0.14655	B	0.01	0.16012	B	.	.	.	.	1	0.08975	N	0.96	0.23930	L	5.72	0.00726	T	-3.32	0.68764	D	0.048	0.08088	-0.8920	0.48758	T	0.002	0.00676	T	9	0.05647248	0.06334	T	0.001266	0.01708	T	0.084	0.24469	.	.	0.043077524339	0.03247	0.029543096631376373	0.02903	2.22587521974	0.95901	.	.	.	.	.	.	-0.333176	0.05874	T	-0.71636	0.04974	T	0.06923972269659	0.08545	T	.	.	.	.	.	.	.	.	.	.	.	-6.488	0.50992	T	.	.	0.125	0.36889	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.541643	0.01739	0.130	0.30546163533684245	0.01676	0.00084	0.00566	N	AEFDBI	0.040908	0.06150	N	-1.75954112441418	0.00652	0.02811985	-1.89857749402206	0.00493	0.0218348	4.00468085139758E-4	0.06820	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-4.522000	0.00254	.	.	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2448:0.2837:0.2446:0.2269	0.244	0.00182	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	29384.38	292	chr19	54806086	.	T	C	29384.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-1.199e+00;DP=7767;ExcessHet=17.4423;FS=4.575;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.83;MQRankSum=-1.735e+01;QD=4.51;ReadPosRankSum=0.065;SOR=1.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:410,85:495:99:0|1:54806034_C_A:2335,0,16960:54806034	6	0	15	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V	.	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.000	N	1.000	N	-1.53	N	2.72	T	-0.970	T	0.008	T	0.063	-3.538	0.001	-0.854	-3.514	-0.448	.	0.047	0.00150018900562	.	.	.	.	.	.	.	.	.	.	0.0017673	46	26028	rs200435373	4.107e-06	8.21e-06	4.086e-06	4.128e-06	8.986e-05	1.48e-06	9.7e-07	2.381e-05	1.26e-05	8.986e-05	4.474e-05	0	0	0	0	8.995e-07	0	0	3.982e-05	6.581e-05	5.185e-05	2.72e-05	9.852e-05	1.73e-05	1.139e-05	3.296e-05	1.946e-05	9.852e-05	0	0	0	0	0	0	2.95e-05	0	0	1.0	0.00964	T	0.716	0.08273	T	0.0	0.02946	B	0.0	0.04355	B	0.000015	0.00162	N	21.575300	1	0.08975	N	-1.765	0.00315	N	2.72	0.11947	T	0.4	0.04022	N	0.064	0.09349	-0.9697	0.37262	T	0.008	0.02968	T	9	0.026097596	0.00785	T	0.002	0.02318	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.009202094420106284	0.00883	1.30891436969	0.83166	.	.	.	.	.	.	-0.448991	0.01145	T	-0.882721	0.00632	T	0.0586992040478046	0.06962	T	.	.	.	.	.	.	.	.	.	.	.	-0.517	0.02545	T	.	.	0.065	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.275204	0.00054	0.001	0.16757461822379344	0.00462	0.00104	0.00666	N	AEFDBI	0.027275	0.02201	N	-2.5106296527513	0.00015	0.0006516505	-2.51493381181123	0.00021	0.0009431019	0.0431614665892215	0.14558	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.854	0.10163	-0.997000	0.03816	.	.	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	24913.38	292	chr19	54806109	.	A	G	24913.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-1.236e+00;DP=7520;ExcessHet=17.4423;FS=7.542;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=58.03;MQRankSum=-1.656e+01;QD=3.98;ReadPosRankSum=-3.141e+00;SOR=1.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:378,82:460:99:0|1:54806034_C_A:2305,0,15625:54806034	6	0	15	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S	.	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.006	B	0.003	B	0.046	U	1.000	N	0.13	N	7.15	T	-0.925	T	0.001	T	0.11	-1.679	0.012	-1.7	-1.068	-0.084	2.159	0.018	0.000621740094912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.39e-06	2.737e-06	0	2.789e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.144e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.21968	T	0.279	0.21745	T	0.006	0.13644	B	0.003	0.08700	B	0.046212	0.01956	U	5.272780	1	0.08975	N	0.045	0.08109	N	7.05	0.00450	T	-2.36	0.55025	N	0.061	0.06587	-0.9252	0.44829	T	0.001	0.00255	T	10	0.058746576	0.06953	T	6.22E-4	0.00303	T	0.018	0.03083	.	.	0.0675242888579	0.06100	0.02819159353811284	0.02769	1.54876453167	0.87867	.	.	.	.	.	.	-0.366904	0.03753	T	-0.764809	0.02943	T	0.114286564290524	0.13862	T	.	.	.	.	.	.	.	.	.	.	.	-4.184	0.26519	T	.	.	0.104	0.18950	B	.;.;.;.	.;.;.;.	-0.289144	0.02665	0.341	0.41441202538805488	0.02990	0.00018	0.00208	N	AEFBI	0.019551	0.00689	N	-1.61870495931056	0.01174	0.05102983	-1.71290992187964	0.01081	0.04855486	3.23883740516504E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-0.587000	0.05874	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2772:0.3273:0.3955	2.159	0.03587	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	25713.48	41	chr19	54808838	.	C	T	25713.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=3.86;DP=5771;ExcessHet=14.4320;FS=0.714;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.82;MQRankSum=-1.875e+01;QD=4.71;ReadPosRankSum=0.460;SOR=0.848	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:414,59:473:99:0|1:54808838_C_T:1231,0,17036:54808838	7	0	14	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5	.	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	28348.44	41	chr19	54808850	.	TGG	T	28348.44	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.40;DP=6077;ExcessHet=14.4320;FS=0.703;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.95;MQRankSum=-1.810e+01;QD=4.95;ReadPosRankSum=0.095;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:420,65:485:99:0|1:54808838_C_T:1465,0,17361:54808838	7	0	14	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15	.	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	28654.44	41	chr19	54808853	.	C	CAT	28654.44	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.62;DP=6070;ExcessHet=14.4320;FS=0.703;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.95;MQRankSum=-1.810e+01;QD=5.01;ReadPosRankSum=-1.110e-01;SOR=0.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:415,66:481:99:0|1:54808838_C_T:1522,0,17159:54808838	7	0	14	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S	.	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.002	B	0.491	U	1.000	N	-1.24	N	7.38	T	-0.982	T	0.000	T	0.081	-2.864	0	-1.7	-0.659	-3.350	3.991	0.009	0.000447511138945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465997687	1.376e-06	1.368e-06	1.37e-06	1.382e-06	6.075e-05	2.3e-07	9e-08	1.006e-05	3.76e-06	6.075e-05	0	0	0	0	0	0	0	0	1.993e-05	1.974e-05	1.297e-05	2.724e-05	7.415e-05	5.3e-06	2.47e-06	1.966e-05	1.045e-05	7.415e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.506	0.10967	T	0.0	0.07471	B	0.002	0.06944	B	0.491149	0.05037	U	1.930170	1	0.08975	N	-1.515	0.00494	N	7.25	0.00433	T	2.25	0.00307	N	0.14	0.13911	-0.9819	0.34561	T	0.000	0.00152	T	10	0.028942287	0.01023	T	4.48E-4	0.00107	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.02708054647761313	0.02658	2.35642927456	0.96844	.	.	.	.	.	.	-0.409861	0.01992	T	-0.826513	0.01325	T	0.0655447216952588	0.08011	T	.	.	.	.	.	.	.	.	.	.	.	-0.475	0.00568	T	.	.	0.070	0.03887	B	.;.;.;.	.;.;.;.	-0.295392	0.02636	0.333	0.47455017389395787	0.03881	0.00276	0.01495	N	AEFBCI	0.026542	0.02011	N	-2.02046759288525	0.00191	0.008189703	-2.03483107511558	0.00258	0.01138985	2.16622587642089E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-2.798000	0.00832	.	.	-2.007000	0.00444	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.4355:0.0:0.5645	3.991	0.09026	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	29056.48	41	chr19	54808875	.	T	C	29056.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=0.156;DP=6159;ExcessHet=14.4320;FS=1.502;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=58.16;MQRankSum=-1.759e+01;QD=5.05;ReadPosRankSum=-6.680e-01;SOR=0.766	GT:AD:DP:GQ:PL	0/1:410,72:482:99:1758,0,11152	7	0	14	0
chr19	54830166	54830166	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1226C:p.R409T	.	.	489	977	43	13	0	69	0.0341078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.017	B	0.016	B	.	.	1.000	N	1.91	M	7.22	T	-0.957	T	0.001	T	0.113	-0.230	2.891	-1.44	-0.785	-0.866	.	0.014	0.00280289760826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402897436	0	6.612e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.13e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.09	0.63226	T	0.404	0.21545	T	0.008	0.14655	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	2.205	0.62170	M	7.22	0.00442	T	-2.14	0.48523	N	0.155	0.19861	-0.9566	0.39807	T	0.001	0.00438	T	8	0.05749756	0.06613	T	0.002803	0.05840	T	0.014	0.01968	0.257	0.19845	0.0611884634855	0.05136	0.14103244144494176	0.14026	0.341241828603	0.36058	.	.	.	0.005761	0.05208	T	-0.327897	0.06272	T	-0.708778	0.05358	T	0.0654255235430696	0.07993	T	.	.	.	0.077683635	0.17647	0.09936527	0.23722	0.077683635	0.17647	0.09936527	0.23722	-8.799	0.66394	D	.	.	0.112	0.22573	B	.;.;.	.;.;.	-0.127859	0.03478	0.649	0.55859222650876794	0.05430	0.00622	0.02746	N	AEFBI	0.041929	0.06440	N	-1.14611797788255	0.05843	0.2674817	-1.32606166375958	0.04096	0.1925055	3.25109135686022E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.719	-1.44	0.08391	-0.857000	0.04394	.	.	0.254000	0.18348	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	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	0.15	3117.3	35	chr19	54830166	.	G	C	3117.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-4.161e+00;DP=4417;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.67;MQRankSum=-1.789e+01;QD=1.56;ReadPosRankSum=-1.700e-02;SOR=0.650	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:354,32:386:99:0|1:54830166_G_C:278,0,14768:54830166	14	0	6	1
chr19	54830177	54830177	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1237T:p.R413C	.	.	487	975	47	13	0	73	0.036085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.016	B	0.004	B	.	.	1.000	N	1.505	L	7.16	T	-0.972	T	0.001	T	0.117	-0.254	2.778	0.569	0.567	0.678	.	0.019	0.00205586965996	.	0.000199681	2.628e-05	0.0002	9.156e-05	0	0	0	0	0	3.84e-05	1	26028	rs573252093	1.446e-05	8.441e-05	1.723e-05	1.165e-05	0.0002	9.44e-06	7.68e-06	4.146e-05	2.416e-05	0.0001	9.576e-05	0	0	0	0.0002	7.555e-06	1.754e-05	2.641e-05	4.289e-05	0.0001	5.533e-05	2.959e-05	0.0002	1.84e-05	1.211e-05	6.588e-05	4.499e-05	0.0002	0	0	0	0	0	0	0	0	0	0.116	0.49117	T	0.123	0.35970	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.15	0.00445	T	-2.1	0.47852	N	0.103	0.14196	-0.9722	0.36734	T	0.001	0.00408	T	8	0.05926463	0.07096	T	0.002056	0.03748	T	0.019	0.03383	.	.	0.124217242631	0.12060	0.14280557230036842	0.14203	0.306309179821	0.32927	.	.	.	0.004918	0.04343	T	-0.530801	0.00380	T	-0.694259	0.06145	T	0.0218732288632759	0.00894	T	.	.	.	0.11626438	0.27425	0.10402554	0.24975	0.11626438	0.27425	0.10402554	0.24975	-8.101	0.62445	D	.	.	0.106	0.21541	B	.;.;.	.;.;.	1.217707	0.16111	12.33	0.46755602533799501	0.03769	0.01115	0.04074	N	AEFBI	0.054109	0.09809	N	-1.01848295800702	0.08221	0.384663	-1.15555151539374	0.06668	0.3217553	2.10729526415108E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	0.650000	0.24544	.	.	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.15	3228.3	35	chr19	54830177	.	C	T	3228.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.737e+00;DP=4472;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.63;MQRankSum=-1.794e+01;QD=1.57;ReadPosRankSum=1.91;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:363,32:395:99:0|1:54830166_G_C:251,0,15146:54830166	14	0	6	1
chr19	54830178	54830178	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1238C:p.R413P	.	.	488	973	48	13	0	74	0.0366337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.003	B	.	.	1.000	N	0.605	N	7.24	T	-0.908	T	0.001	T	0.094	-2.412	0.003	-1.14	-1.579	-0.469	.	0.016	0.00338705456639	.	.	.	.	.	.	.	.	.	.	.	.	.	rs984592565	2.892e-06	0.0003	0	5.825e-06	1.321e-05	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	0	1.321e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.075	0.38407	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.215	0.09537	N	7.23	0.00430	T	-0.45	0.24676	N	0.05	0.04072	-0.9082	0.47073	T	0.001	0.00255	T	8	0.05937442	0.07126	T	0.003387	0.07603	T	0.016	0.02506	0.366	0.37361	0.0401082797425	0.02173	0.09140339593159023	0.09073	0.323214894628	0.34489	.	.	.	0.001071	0.00595	T	-0.371148	0.03536	T	-0.770905	0.02738	T	0.0905973222850487	0.11288	T	.	.	.	0.09353458	0.21971	0.14968953	0.35334	0.09353458	0.21970	0.14968953	0.35333	-5.275	0.49736	T	.	.	0.093	0.14797	B	.;.;.	.;.;.	-0.439146	0.02071	0.191	0.43628759508592302	0.03298	0.00008	0.00134	N	AEFBI	0.019406	0.00671	N	-1.59627941012569	0.01283	0.05585422	-1.71860603525739	0.01058	0.04746591	9.63160874456533E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.14	0.09241	-0.491000	0.06555	.	.	-0.821000	0.02958	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.15	3252.3	35	chr19	54830178	.	G	C	3252.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.995e+00;DP=4479;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.62;MQRankSum=-1.808e+01;QD=1.58;ReadPosRankSum=2.10;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:365,32:397:99:0|1:54830166_G_C:245,0,15230:54830166	14	0	6	1
chr19	54830217	54830217	T	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1277C:p.I426T	.	.	490	959	60	13	0	86	0.0429142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.002	B	0.007	B	.	.	1.000	N	0.895	L	7.02	T	-0.948	T	0.001	T	0.085	-3.212	0.001	-0.727	-0.235	-0.860	.	0.031	0.00252436282351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs199822561	1.447e-06	6.26e-05	1.437e-06	1.458e-06	1.89e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.89e-06	0	0	0	8.482e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.053	0.38863	T	0.707	0.18732	T	0.001	0.07471	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.51	0.38214	L	7.01	0.00465	T	1.33	0.01107	N	0.136	0.15469	-0.9482	0.41279	T	0.001	0.00378	T	8	0.053025752	0.05429	T	0.002524	0.05037	T	0.031	0.07369	0.329	0.31357	0.0138822411134	0.00435	0.05436384389562955	0.05378	0.2842650222	0.30852	.	.	.	0.00346	0.02869	T	-0.377913	0.03211	T	-0.780622	0.02435	T	0.109476455881908	0.13368	T	.	.	.	0.060243543	0.12340	0.12511967	0.30151	0.060243543	0.12340	0.12511967	0.30150	-2.004	0.06104	T	.	.	0.127	0.34160	B	.;.;.	.;.;.	-0.422644	0.02129	0.203	0.1578796069653349	0.00399	0.00213	0.01210	N	AEFBI	0.035053	0.04446	N	-1.5374920893244	0.01609	0.07032718	-1.65054767699224	0.01373	0.06202174	1.82473746354949E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-0.727	0.10603	-0.855000	0.04403	.	.	-2.187000	0.00360	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.15	3351.3	35	chr19	54830217	.	T	C	3351.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.492e+00;DP=4457;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.63;MQRankSum=-1.828e+01;QD=1.65;ReadPosRankSum=4.76;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:349,32:381:99:0|1:54830166_G_C:293,0,14558:54830166	14	0	6	1
chr19	54830219	54830219	T	A	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1279A:p.L427M	.	.	490	958	61	13	0	87	0.0434348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.015	B	0.004	B	.	.	1.000	N	0.05	N	7.16	T	-0.949	T	0.001	T	0.116	-0.161	3.214	0.569	-0.221	-0.021	.	0.033	0.00220836784564	.	.	1.752e-05	0	0	0	0	3.156e-05	0	0	1.29e-05	2	154602	rs200821495	2.17e-06	0.0009	0	4.372e-06	9.449e-07	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0	9.449e-07	3.512e-05	0	7.376e-06	0.0005	1.429e-05	0	1.625e-05	0	0	.	.	0	0	0	0	0	0	0	1.625e-05	0	0	0.036	0.43708	D	0.044	0.49942	D	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	7.15	0.00440	T	0.02	0.07155	N	0.097	0.09066	-0.9488	0.41177	T	0.001	0.00255	T	8	0.059903473	0.07273	T	0.002208	0.04178	T	0.033	0.08068	0.343	0.33626	0.0611884634855	0.05136	0.06365489919836881	0.06304	0.217370059748	0.24259	.	.	.	0.001032	0.00564	T	-0.359885	0.04136	T	-0.754727	0.03305	T	0.0475029693969738	0.05054	T	.	.	.	0.12672478	0.29674	0.09114859	0.21413	0.12672478	0.29673	0.09114859	0.21413	-2.726	0.11147	T	.	.	0.087	0.11027	B	.;.;.	.;.;.	-0.079285	0.03768	0.787	0.57251924956472933	0.05728	0.00098	0.00638	N	AEFBI	0.020111	0.00761	N	-1.48858900803104	0.01930	0.08470691	-1.56128690325375	0.01899	0.08661785	1.77709840166136E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	-0.346000	0.07809	.	.	-2.056000	0.00415	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.15	3297.3	35	chr19	54830219	.	T	A	3297.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.982e+00;DP=4460;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.66;MQRankSum=-1.825e+01;QD=1.62;ReadPosRankSum=4.19;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:346,31:377:99:0|1:54830166_G_C:260,0,14435:54830166	14	0	6	1
chr19	54830226	54830226	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1286T:p.T429M	.	.	491	956	62	13	0	88	0.044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.226	B	0.042	B	.	.	1.000	N	0.66	N	7.16	T	-0.970	T	0.001	T	0.116	-0.776	0.741	-1.01	-0.398	-1.561	.	0.003	0.00266394809513	7.9e-05	.	4.38e-05	0.0004	0	0	0	1.578e-05	0	0	7.12e-05	11	154602	rs72629105	2.892e-06	0.0008	1.435e-06	4.369e-06	2.833e-06	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	1.754e-05	0	2.894e-05	0.0005	4.202e-05	1.496e-05	7.701e-05	9.76e-06	5.56e-06	2.041e-05	1.066e-05	7.701e-05	0	0	0	0	0	0	1.605e-05	0	0	0.054	0.52492	T	0.299	0.22359	T	0.122	0.26746	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	0.95	0.23787	L	7.16	0.00445	T	0.53	0.04022	N	0.061	0.03726	-0.9699	0.37220	T	0.001	0.00287	T	8	0.04146093	0.02803	T	0.002664	0.05434	T	0.003	0.00094	.	.	0.0482279557977	0.04254	0.1972985884992638	0.19646	0.240531653146	0.26595	.	.	.	0.001518	0.00960	T	-0.551009	0.00288	T	-0.749827	0.03492	T	0.0218708623688418	0.00894	T	.	.	.	0.024346609	0.01257	0.069218	0.14554	0.024346609	0.01257	0.069218	0.14554	-2.712	0.13893	T	.	.	0.079	0.09385	B	.;.;.	.;.;.	-0.578230	0.01633	0.113	0.60277366403116528	0.06425	0.00031	0.00285	N	AEFBI	0.021009	0.00889	N	-1.21141140468678	0.04833	0.218967	-1.35673268790221	0.03727	0.1744511	2.06319095939035E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.01	0.09650	-1.643000	0.02106	.	.	-2.138000	0.00378	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.15	3090.3	35	chr19	54830226	.	C	T	3090.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.236e+00;DP=4472;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.69;MQRankSum=-1.825e+01;QD=1.51;ReadPosRankSum=2.95;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:350,31:381:99:0|1:54830166_G_C:248,0,14603:54830166	14	0	6	1
chr19	54830253	54830253	C	-	exonic	KIR3DL1	.	frameshift deletion	KIR3DL1:NM_001322168:exon9:c.1313delC:p.S438Ffs*6	.	.	484	969	56	13	0	82	0.0405941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.228e-07	4.922e-05	0	1.456e-06	9.442e-07	0	0	.	.	0	0	0	0	0	0	9.442e-07	0	0	0	4.801e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2796.99	35	chr19	54830252	.	TC	T	2796.99	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-2.582e+00;DP=4357;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=58.62;MQRankSum=-1.642e+01;QD=1.45;ReadPosRankSum=-1.343e+00;SOR=0.700	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:322,27:349:99:0|1:54830166_G_C:164,0,13439:54830166	15	0	6	0
chr19	54830256	54830258	AAG	-	exonic	KIR3DL1	.	nonframeshift deletion	KIR3DL1:NM_001322168:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*	.	.	491	962	56	13	0	82	0.0408774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.446e-06	4.922e-05	1.435e-06	1.456e-06	1.888e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.888e-06	0	0	0	4.808e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	2545.27	35	chr19	54830255	.	AAAG	A	2545.27	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-1.717e+00;DP=4318;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.64;MQRankSum=-1.636e+01;QD=1.34;ReadPosRankSum=-1.346e+00;SOR=0.725	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:322,25:347:80:0|1:54830166_G_C:80,0,13445:54830166	14	0	6	1
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	0/2:302,105,81:488:99:.:.:2199,320,9916,0,7332,13970	4	0	11	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F	.	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.957	D	0.987	U	1.000	N	1.885	L	5.76	T	-0.914	T	0.007	T	0.13	2.147	13.14	-0.254	-0.134	-1.675	3.712	0.019	0.000464580640836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs953284565	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.297	0.22084	T	0.998	0.73220	D	0.957	0.69900	D	0.987012	0.08056	U	0.989616	1	0.08975	N	1.825	0.47900	L	5.76	0.00695	T	-2.9	0.60827	D	0.098	0.12770	-0.9144	0.46298	T	0.007	0.02518	T	10	0.1624504	0.30445	T	4.65E-4	0.00116	T	0.019	0.03383	0.518	0.61915	0.336892272479	0.33291	0.018868245159557127	0.01840	1.60845377238	0.88855	0.403694212437	0.25583	T	0.067962	0.33336	T	-0.305796	0.08124	T	-0.677031	0.07167	T	0.537836849689484	0.34024	D	.	.	.	0.19793491	0.41677	0.16741675	0.38624	0.19793491	0.41677	0.16741675	0.38624	-6.639	0.51350	T	.	.	0.148	0.32589	B	.;.	.;.	0.893731	0.12673	9.197	0.95973909104232413	0.28337	0.00299	0.01594	N	AEFBI	0.032299	0.03618	N	-0.732235372597301	0.15120	0.7592366	-0.957408281364291	0.10751	0.5435199	1.67992491567851E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-0.254	0.12350	-0.950000	0.03999	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5937:0.4063:0.0:0.0	3.712	0.07954	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	20296.38	88	chr19	54855625	.	A	T	20296.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-8.030e-01;DP=5048;ExcessHet=17.4423;FS=6.158;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.76;MQRankSum=-1.439e+01;QD=4.26;ReadPosRankSum=0.340;SOR=0.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:316,40:356:99:0|1:54855608_TCTC_T:728,0,13147:54855608	6	0	15	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G	.	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.999	D	0.99	D	0.407	U	1.000	N	0.715	N	5.81	T	-0.864	T	0.005	T	0.109	0.702	7.744	0.993	0.705	-1.951	4.242	0.018	0.0011106169865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985925024	6.844e-07	2.052e-06	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.118	0.28148	T	0.271	0.22291	T	0.999	0.77913	D	0.99	0.78936	D	0.407241	0.04570	U	1.688890	1	0.08975	N	0.38	0.12130	N	5.81	0.00662	T	-1.77	0.41809	N	0.087	0.10769	-0.8640	0.50973	T	0.005	0.01833	T	10	0.0910846	0.15926	T	0.001111	0.01336	T	0.018	0.03083	0.409	0.44395	0.184867976434	0.18130	0.04741152337579393	0.04684	1.9288275753	0.93111	0.312949419022	0.12353	T	0.061579	0.31691	T	-0.358922	0.04191	T	-0.753343	0.03358	T	0.0479596368968487	0.05137	T	.	.	.	0.038775276	0.05231	0.055304885	0.09676	0.038775276	0.05230	0.055304885	0.09675	-4.68	0.36840	T	.	.	0.068	0.03552	B	.;.	.;.	0.681116	0.10498	7.211	0.93748499984386979	0.23687	0.00095	0.00623	N	AEFBI	0.022196	0.01079	N	-0.906883655702748	0.10679	0.5115434	-1.03393035090106	0.09045	0.4478514	2.60640366773723E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.810000	0.04612	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	4.242	0.10106	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	19524.38	88	chr19	54855628	.	A	G	19524.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.458e+00;DP=5081;ExcessHet=17.4423;FS=6.361;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.81;MQRankSum=-1.448e+01;QD=4.07;ReadPosRankSum=0.351;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:318,40:358:99:0|1:54855608_TCTC_T:722,0,13211:54855608	6	0	15	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R	.	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.001	B	.	.	1.000	N	-0.69	N	7.32	T	-0.976	T	0.001	T	0.094	-0.882	0.475	-0.763	-1.126	-1.523	.	0.009	0.00110318286967	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs796466301	7.457e-05	0.0011	7.798e-05	7.115e-05	0.0002	6.259e-05	5.845e-05	9.469e-05	7.503e-05	0.0001	0.0002	0.0002	5.078e-05	0	0	6.593e-05	3.482e-05	0.0002	0	3.285e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.134	0.26300	T	0.451	0.12920	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-1.04	0.01097	N	7.31	0.00423	T	0.16	0.05217	N	0.083	0.10769	-0.9760	0.35904	T	0.001	0.00188	T	8	0.04906112	0.04441	T	0.001103	0.01312	T	0.009	0.00846	0.442	0.49811	0.119812018005	0.11559	0.09452283820028774	0.09384	2.56269628182	0.97972	0.333641290665	0.15483	T	7.89E-4	0.00376	T	-0.415095	0.01840	T	-0.834032	0.01193	T	0.059155964491615	0.07034	T	.	.	.	0.106677674	0.25223	0.1821225	0.41119	0.106677674	0.25223	0.1821225	0.41119	1.528	0.00757	T	.	.	0.054	0.02639	B	.;.	.;.	-0.404554	0.02196	0.218	0.45649119719455972	0.03599	0.00039	0.00329	N	AEFBI	0.015175	0.00277	N	-1.72878488187199	0.00744	0.03215037	-1.79035493063549	0.00791	0.03527497	4.27305037267331E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.609	-0.763	0.10475	-1.665000	0.02067	.	.	-1.747000	0.00693	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	31702.71	90	chr19	54865810	.	T	C	31702.71	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-1.293e+00;DP=3755;ExcessHet=14.4320;FS=1.258;InbreedingCoeff=-0.5016;MLEAC=14;MLEAF=0.333;MQ=58.31;MQRankSum=-9.487e+00;QD=9.30;ReadPosRankSum=1.76;SOR=0.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,67:250:99:0|1:54865794_T_C:2262,0,7482:54865794	7	0	14	0
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I	.	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.259	B	0.269	B	.	.	1.000	N	0.7	N	7.31	T	-0.975	T	0.001	T	0.028	-1.590	0.014	-1.58	-0.698	-0.374	3.986	0.008	0.00055253107299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796782943	6.843e-07	1.368e-06	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.164	0.24468	T	0.419	0.14158	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	7.18	0.00448	T	-0.21	0.10656	N	0.072	0.04547	-0.9746	0.36213	T	0.001	0.00348	T	9	0.07256496	0.10849	T	5.53E-4	0.00208	T	0.008	0.00669	0.367	0.37524	0.241078983079	0.23725	0.04157770004610267	0.04102	0.0027843863192	0.00238	0.408555775881	0.26256	T	0.002608	0.01994	T	-0.428714	0.01509	T	-0.853595	0.00915	T	0.0821466851244207	0.10259	T	.	.	.	0.022919703	0.00990	0.029417474	0.01278	0.022919703	0.00989	0.029417474	0.01278	-3.748	0.20029	T	.	.	0.070	0.08033	B	.;.	.;.	-1.320914	0.00420	0.008	0.32275471755800766	0.01862	0.00127	0.00790	N	AEFBI	0.021088	0.00901	N	-1.46961496636215	0.02067	0.09089394	-1.60118741659373	0.01648	0.07480784	3.08807583727834E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.835000	0.04494	.	.	-0.482000	0.05067	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5465:0.0:0.4535:0.0	3.986	0.09005	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.35	30212.51	90	chr19	54865825	.	G	A	30212.51	.	AC=14;AF=0.350;AN=40;BaseQRankSum=0.417;DP=3951;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5273;MLEAC=14;MLEAF=0.350;MQ=58.36;MQRankSum=-1.018e+01;QD=8.39;ReadPosRankSum=2.06;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,67:262:99:0|1:54865794_T_C:2226,0,7986:54865794	6	0	14	1
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A	.	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.988	D	0.985	D	0.029	N	1.000	N	0.125	N	7.27	T	-0.917	T	0.002	T	0.051	-1.319	0.034	-1.58	-1.598	-0.458	5.878	0.065	0.000400803919065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224475740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.29823	T	0.986	0.02387	T	0.98	0.59353	D	0.966	0.71341	D	0.029014	0.01695	N	4.101880	1	0.08975	N	0.395	0.12235	N	7.27	0.00437	T	-0.92	0.24676	N	0.126	0.11912	-0.9172	0.45931	T	0.002	0.00585	T	10	0.07284033	0.10928	T	4.01E-4	0.00071	T	0.065	0.18881	0.494	0.58206	0.0297737177859	0.01360	0.06284081072503588	0.06223	0.00213134346531	0.00180	0.403696119785	0.25583	T	0.001044	0.00572	T	-0.400058	0.02313	T	-0.812432	0.01611	T	0.139050558209419	0.16193	T	.	.	.	0.031689838	0.03054	0.03537673	0.02778	0.031689838	0.03053	0.03537673	0.02778	-6.306	0.48770	T	.	.	0.101	0.17488	B	.;.	.;.	0.454312	0.08244	4.984	0.26484307624393894	0.01271	0.00052	0.00397	N	AEFBI	0.015930	0.00328	N	-1.33586624352162	0.03274	0.1459584	-1.54872497766398	0.01985	0.0906649	1.28470643324931E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.401000	0.07293	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.5995:0.0:0.4005	5.878	0.18089	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	31525.16	90	chr19	54865847	.	T	C	31525.16	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.74;DP=3983;ExcessHet=14.4320;FS=0.597;InbreedingCoeff=-0.5108;MLEAC=14;MLEAF=0.333;MQ=58.27;MQRankSum=-1.006e+01;QD=8.70;ReadPosRankSum=0.977;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,67:266:99:0|1:54865794_T_C:2214,0,8154:54865794	7	0	14	0
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I	.	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.521	N	1.000	N	-2.6	N	7.41	T	-0.951	T	0.000	T	0.186	-2.169	0.005	-0.556	-1.246	-2.075	1.833	0.025	0.000552976428505	.	.	8.242e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs2915986	3.52e-06	3.467e-06	4.204e-06	2.829e-06	3.699e-06	1.03e-06	7.5e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.699e-06	1.7e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.520826	0.11743	N	0.610798	1	0.08975	N	-2.095	0.00157	N	7.34	0.00418	T	2.41	0.00335	N	0.177	0.19055	-0.9514	0.40730	T	0.000	0.00075	T	10	0.028288513	0.00963	T	5.53E-4	0.00208	T	0.025	0.05312	0.361	0.36548	0.0401082797425	0.02173	0.037563278247634765	0.03702	0.00194719441549	0.00165	0.439581662416	0.30520	T	0.002307	0.01700	T	-0.359524	0.04156	T	-0.754208	0.03325	T	0.102266789170519	0.12604	T	.	.	.	0.029341966	0.02414	0.027775709	0.00957	0.029341966	0.02413	0.027775709	0.00957	1.774	0.00144	T	.	.	0.031	0.00001	B	.;.	.;.	-1.192069	0.00539	0.013	0.21394745277116367	0.00813	0.00027	0.00265	N	AEFBI	0.015044	0.00268	N	-2.17185589876208	0.00089	0.003788383	-2.12745077528888	0.00162	0.00713515	4.11374997373906E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.556	0.11213	-3.473000	0.00511	.	.	-1.423000	0.01123	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3789:0.3119:0.0:0.3092	1.833	0.02945	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	28126.08	90	chr19	54865852	.	T	A	28126.08	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.146e+00;DP=3964;ExcessHet=11.8493;FS=0.602;InbreedingCoeff=-0.4757;MLEAC=13;MLEAF=0.325;MQ=58.29;MQRankSum=-1.050e+01;QD=8.38;ReadPosRankSum=0.494;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:196,66:262:99:0|1:54865794_T_C:2181,0,8031:54865794	7	0	13	1
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I	.	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.01	B	0.021	B	0.026	N	1.000	N	-0.145	N	7.01	T	-0.867	T	0.001	T	0.124	-3.306	0.001	-1.51	-3.388	-1.355	6.404	0.013	0.000772956067362	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296399738	8.417e-06	0.0011	1.256e-05	4.23e-06	7.065e-05	4.49e-06	3.55e-06	1.874e-05	1.019e-05	0	7.065e-05	0	0	1.911e-05	0	3.683e-06	0	4.841e-05	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	1.0	0.01155	T	0.01	0.15535	B	0.009	0.14300	B	0.025651	0.01634	N	972.142000	1	0.08975	N	-0.22	0.03977	N	6.79	0.00488	T	1.13	0.01297	N	0.193	0.21188	-0.8671	0.50746	T	0.001	0.00287	T	10	0.037043363	0.02035	T	7.73E-4	0.00568	T	0.013	0.01715	0.474	0.55020	0.0551355673512	0.04727	0.03483597995631442	0.03430	0.00231030591297	0.00198	0.440028011799	0.30580	T	0.003421	0.02829	T	-0.38056	0.03091	T	-0.784425	0.02323	T	0.24141052365303	0.22484	T	.	.	.	0.02956708	0.02474	0.027299805	0.00872	0.02956708	0.02473	0.027299805	0.00872	-2.832	0.08482	T	.	.	0.067	0.02428	B	.;.	.;.	-1.733188	0.00181	0.003	0.39800349715696198	0.02769	0.00031	0.00285	N	AEFBI	0.015044	0.00268	N	-2.51786959481438	0.00014	0.0006260781	-2.5670260733213	0.00016	0.0007120855	0.00421926217040744	0.10461	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.756	-1.51	0.08207	-0.986000	0.03857	.	.	-4.822000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4531:0.5469:0.0:0.0	6.404	0.20859	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	26881.91	90	chr19	54865864	.	C	A	26881.91	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.450e-01;DP=3884;ExcessHet=11.8493;FS=0.608;InbreedingCoeff=-0.4745;MLEAC=13;MLEAF=0.325;MQ=58.33;MQRankSum=-9.748e+00;QD=8.20;ReadPosRankSum=-7.570e-01;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,60:250:99:0|1:54865794_T_C:1947,0,7797:54865794	7	0	13	1
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F	.	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.999	D	0.997	D	0.959	U	1.000	N	1.445	L	6.74	T	-0.940	T	0.004	T	0.25	0.087	4.467	-1.58	-0.826	-0.444	2.405	0.046	0.000653011748056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338748485	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.05152	T	0.137	0.33894	T	0.999	0.77913	D	0.993	0.81110	D	0.959071	0.07705	U	1.034180	1	0.08975	N	1.67	0.42885	L	6.68	0.00576	T	-0.57	0.19297	N	0.144	0.15888	-0.9404	0.42552	T	0.004	0.01470	T	10	0.067382395	0.09379	T	6.53E-4	0.00350	T	0.046	0.12618	0.447	0.50629	0.0482279557977	0.04254	0.03706772757247262	0.03653	0.00235242544378	0.00204	0.419023424387	0.27702	T	0.010928	0.09812	T	-0.282597	0.10395	T	-0.643707	0.09401	T	0.149730133327665	0.17082	T	.	.	.	0.029493352	0.02453	0.034858517	0.02630	0.029493352	0.02453	0.034858517	0.02630	-4.814	0.34754	T	.	.	0.092	0.13362	B	.;.	.;.	0.692112	0.10608	7.311	0.86832300325457512	0.16803	0.00214	0.01215	N	AEFBI	0.025492	0.01754	N	-1.08763022436649	0.06870	0.3175028	-1.36423289139558	0.03641	0.1702588	3.46547822766471E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.403000	0.07275	.	.	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.414:0.3227:0.2634	2.405	0.04140	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	26642.8	90	chr19	54865870	.	C	T	26642.8	.	AC=13;AF=0.325;AN=40;BaseQRankSum=1.75;DP=3832;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.325;MQ=58.31;MQRankSum=-9.500e+00;QD=8.27;ReadPosRankSum=-1.440e+00;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,60:248:99:0|1:54865794_T_C:1953,0,7713:54865794	7	0	13	1
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H	.	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.008	B	0.001	N	1.000	N	-2.525	N	7.27	T	-0.904	T	0.000	T	0.061	-2.893	0.001	-0.356	-0.649	-0.514	4.953	0.052	0.000928668473944	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2915987	4.899e-06	0.0012	8.359e-06	1.406e-06	6.971e-05	2.04e-06	1.31e-06	1.849e-05	1.012e-05	0	6.971e-05	0	2.532e-05	0	0	1.838e-06	0	1.202e-05	6.588e-06	7.887e-05	0	1.349e-05	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.639	0.06992	T	0.001	0.07471	B	0.004	0.10090	B	0.000834	0.00693	N	964.490000	1	0.08975	N	-1.885	0.00247	N	7.23	0.00430	T	2.95	0.00151	N	0.108	0.11054	-0.9038	0.47583	T	0.000	0.00114	T	10	0.02607575	0.00783	T	9.29E-4	0.00911	T	0.052	0.14661	0.509	0.60540	0.0806252709748	0.07271	0.05856973815727529	0.05797	0.00203136714976	0.00170	0.461200088263	0.33475	T	0.002548	0.01934	T	-0.543293	0.00320	T	-0.842333	0.01064	T	0.055993546621464	0.06523	T	.	.	.	0.01972407	0.00509	0.030124722	0.01429	0.01972407	0.00508	0.030124722	0.01428	-0.36	0.01497	T	.	.	0.058	0.01810	B	.;.	.;.	-1.085193	0.00658	0.018	0.29891803236966757	0.01608	0.00013	0.00170	N	AEFBI	0.013335	0.00174	N	-2.32571740057804	0.00040	0.001704577	-2.25685884815932	0.00083	0.003659575	2.27817266838019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.356	0.11957	-0.520000	0.06338	.	.	-3.331000	0.00095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7076:0.0:0.2924	4.953	0.13373	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	23642.28	90	chr19	54865885	.	T	C	23642.28	.	AC=13;AF=0.325;AN=40;BaseQRankSum=3.17;DP=3617;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4940;MLEAC=14;MLEAF=0.350;MQ=58.28;MQRankSum=-9.078e+00;QD=7.87;ReadPosRankSum=-1.919e+00;SOR=0.730	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,52:225:99:0|1:54865794_T_C:1663,0,7108:54865794	7	0	13	1
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C	.	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.997	D	0.003	U	1.000	N	1.9	L	7.01	T	-0.926	T	0.005	T	0.315	0.191	5.027	0.792	0.706	-0.531	4.875	0.076	0.00070768877162	.	.	8.387e-06	0	0	0	0	1.53e-05	0	0	1.29e-05	2	154602	rs138402445	1.848e-05	1.847e-05	1.635e-05	2.064e-05	2.988e-05	1.266e-05	1.085e-05	1.461e-05	1.227e-05	2.988e-05	0	0	0	1.881e-05	0	2.159e-05	1.656e-05	0	6.58e-06	6.569e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.049	0.50676	D	0.045	0.49390	D	0.998	0.73220	D	0.724	0.55036	P	0.003128	0.00941	U	719.913000	1	0.08975	N	2.18	0.61292	M	7.01	0.00466	T	-3.01	0.62518	D	0.177	0.25253	-0.9256	0.44772	T	0.005	0.01506	T	10	0.2351507	0.40570	T	7.08E-4	0.00454	T	0.076	0.22200	0.608	0.74063	0.377274123778	0.37341	0.04899285126321561	0.04842	0.00201032243671	0.00170	0.345741182566	0.17292	T	0.083108	0.36978	T	-0.280145	0.10652	T	-0.57654	0.14856	T	0.0767469108104706	0.09565	T	.	.	.	0.090401374	0.21151	0.072761305	0.15734	0.090401374	0.21151	0.072761305	0.15734	-5.468	0.41568	T	.	.	0.101	0.17488	B	.;.	.;.	1.700358	0.21659	15.29	0.78131642950480018	0.12168	0.00252	0.01388	N	AEFBI	0.036619	0.04908	N	-0.596483761697517	0.19051	0.9940639	-0.847282888163348	0.13353	0.6922374	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	-0.462000	0.06781	.	.	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	22402.2	90	chr19	54865888	.	C	T	22402.2	.	AC=13;AF=0.325;AN=40;BaseQRankSum=2.84;DP=3561;ExcessHet=11.8493;FS=0.626;InbreedingCoeff=-0.4886;MLEAC=14;MLEAF=0.350;MQ=58.25;MQRankSum=-9.209e+00;QD=7.57;ReadPosRankSum=-1.902e+00;SOR=0.753	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,50:223:99:0|1:54865794_T_C:1579,0,7073:54865794	7	0	13	1
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C	.	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.005	U	1.000	N	2.56	M	7.16	T	-0.938	T	0.005	T	0.423	0.755	7.999	0.792	0.706	0.774	4.875	0.087	0.000545132984031	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs150217832	6.846e-07	6.84e-07	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.055	0.48080	T	0.999	0.77913	D	0.995	0.83170	D	0.004823	0.01046	U	6.630260	0.999999	0.08975	N	2.65	0.77586	M	7.12	0.00449	T	-8.3	0.96976	D	0.417	0.45709	-0.9378	0.42963	T	0.005	0.01578	T	10	0.46326482	0.59415	T	5.45E-4	0.00196	T	0.087	0.25287	0.69	0.82748	0.115124310173	0.11017	0.06623851051609898	0.06562	0.0020945074082	0.00176	0.531311154366	0.43219	T	0.117344	0.43737	T	-0.156731	0.27265	T	-0.46291	0.26281	T	0.919087171554565	0.57763	D	.	.	.	0.27311128	0.50379	0.25889528	0.51629	0.27311128	0.50379	0.25889528	0.51629	-5.179	0.48189	T	.	.	0.297	0.52760	B	.;.	.;.	1.876161	0.23830	16.17	0.96792341091729295	0.31116	0.02255	0.06527	N	AEFBI	0.039311	0.05691	N	-0.326071486107245	0.28160	1.550996	-0.608238508299626	0.19282	1.03379	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	0.848000	0.27362	.	.	0.413000	0.20698	0.222000	0.24557	0.000000	0.08366	0.017000	0.10941	0.0:0.0:1.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	21734.24	90	chr19	54865893	.	G	C	21734.24	.	AC=13;AF=0.325;AN=40;BaseQRankSum=2.60;DP=3482;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4768;MLEAC=13;MLEAF=0.325;MQ=58.20;MQRankSum=-8.978e+00;QD=7.60;ReadPosRankSum=-2.084e+00;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,47:218:99:0|1:54865794_T_C:1459,0,6940:54865794	7	0	13	1
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E	.	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	.	.	1.000	N	-1.735	N	7.23	T	-0.988	T	0.000	T	0.038	-2.832	0	-1.86	-0.450	0.343	6.644	0.019	0.000487258690266	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs973541788	6.841e-07	8.893e-06	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.08	0.01032	N	7.15	0.00440	T	1.42	0.00936	N	0.047	0.01911	-0.9881	0.33077	T	0.000	0.00114	T	9	0.028343678	0.00967	T	4.87E-4	0.00143	T	0.019	0.03383	0.432	0.48171	0.139678290688	0.13603	0.030255114197267258	0.02974	0.00231557063093	0.00198	0.46007502079	0.33320	T	0.001004	0.00540	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.0475666406958597	0.05065	T	.	.	.	0.048541624	0.08476	0.04803189	0.07048	0.048541624	0.08476	0.04803189	0.07048	-3.597	0.17813	T	.	.	0.049	0.00120	B	.;.	.;.	-0.208194	0.03048	0.471	0.46700175483676853	0.03761	0.00016	0.00195	N	AEFBI	0.016061	0.00339	N	-1.82336724726666	0.00490	0.02110744	-1.81317678004361	0.00718	0.0319862	2.83414617026636E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.05	-1.86	0.07340	0.363000	0.20037	.	.	-0.318000	0.05900	0.220000	0.24536	0.000000	0.08366	0.002000	0.04165	0.0:0.5951:0.4049:0.0	6.644	0.22116	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	15435.48	140	chr19	54866420	.	C	G	15435.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-3.889e+00;DP=4431;ExcessHet=14.4320;FS=9.928;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=58.11;MQRankSum=-1.691e+01;QD=3.94;ReadPosRankSum=1.08;SOR=0.395	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:296,39:335:99:0|1:54866416_T_C:747,0,12293:54866416	7	0	14	0
chr19	55117296	55117296	T	C	exonic	PPP1R12C	.	nonsynonymous SNV	PPP1R12C:NM_001271618:exon1:c.A248G:p.D83G	.	.	424	1097	0	1	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.08	B	0.123	B	0.144	U	1.000	D	1.65	L	-0.3	T	-0.677	T	0.206	T	0.344	2.732	15.10	2.07	1.227	0.614	6.145	0.049	0.486215710169	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1030909322	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0005	0.0005	0.0005	4.542e-05	0.0001	0	0	0.0007	0	0.0006	0.0003	0	0.0006	0.0006	0.0007	0.0005	0.0012	0.0005	0.0005	0.0010	0.0009	4.949e-05	0	0	0.0003	0	0.0005	0	0.0012	0	0	0.024	0.47745	D	0.059	0.45961	T	0.08	0.24543	B	0.123	0.32463	B	0.144286	0.18183	U	0.374428	0.634599	0.32820	D	0.615	0.15706	N	-0.3	0.67874	T	-1.58	0.38151	N	0.178	0.19190	-0.6770	0.61511	T	0.206	0.56471	T	10	0.15235806	0.28780	T	0.486216	0.94923	D	0.049	0.13647	.	.	0.57371630461	0.57039	0.3067000379226747	0.30583	0.440978841231	0.44093	0.894014835358	0.95750	D	0.021896	0.16976	T	-0.39564	0.02473	T	-0.343507	0.39946	T	0.105951467145057	0.13000	T	0.618838	0.23746	T	0.16016439	0.35938	0.18701905	0.41909	0.16016439	0.35937	0.18701905	0.41908	-2.16	0.03851	T	.	.	0.199	0.42244	B	.	.	3.379170	0.46730	22.3	0.99250480525136475	0.56858	0.14665	0.18522	N	AEFDBHCI	0.040906	0.06148	N	-0.642772247007584	0.17672	0.9113006	-0.68034323455313	0.17452	0.9280738	0.999999488392896	0.74766	0.766844	0.99359	0	0.484254	0.07192	0	0.851219	0.99655	0	0.492483	0.08430	1	.	.	2.07	2.07	0.26004	0.413000	0.20869	3.848000	0.40075	0.419000	0.20781	0.000000	0.06391	1.000000	0.68203	0.054000	0.15518	0.0:0.0:0.0:1.0	6.145	0.19497	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	303.99	17	chr19	55117296	.	T	C	303.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.520e+00;DP=350;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0253;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.48;ReadPosRankSum=0.633;SOR=0.804	GT:AD:DP:GQ:PL	0/1:14,15:29:99:318,0,360	20	0	1	0
chr19	55312021	55312021	C	G	exonic	BRSK1	.	nonsynonymous SNV	BRSK1:NM_032430:exon19:c.C2290G:p.P764A,	.	.	436	1080	6	0	0	6	0.00277008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.0	B	0.001	B	0.302	N	1.000	N	0	N	2.12	T	-1.033	T	0.107	T	0.288	0.718	7.822	2.77	0.593	0.785	5.018	0.054	.	0.0016	0.00139776	0.0087	0.0020	0.0050	0	0.0349	0.0159	0	0.0022	0.0021927	339	154602	rs55796422	0.0040	0.0038	0.0040	0.0040	0.0042	0.0039	0.0038	0.0041	0.0040	0.0006	0.0016	0.0027	0	0.0124	0.0030	0.0042	0.0030	0.0006	0.0041	0.0041	0.0042	0.0041	0.0058	0.0039	0.0038	0.0054	0.0052	0.0006	0.0186	0.0020	0.0020	0	0.0133	0	0.0058	0.0043	0.0004	0.431	0.09514	T	0.459	0.12632	T	0.0	0.02946	B	0.001	0.04355	B	0.301641	0.14588	N	0.642454	0.995987	0.23147	N	0	0.06538	N	-0.4	0.69287	T	-0.6	0.22944	N	0.163	0.17140	-1.0330	0.19490	T	0.107	0.38857	T	10	0.0058009923	0.00129	T	.	.	.	0.054	0.15330	.	.	0.567312283712	0.56396	0.06713193391897504	0.06651	0.850350720984	0.68505	0.66813325882	0.62571	T	0.063974	0.32315	T	-0.460073	0.00982	T	-0.424245	0.30588	T	0.000272591460729705	0.00002	T	0.646135	0.25753	T	0.017005345	0.00239	0.021391267	0.00192	0.017005345	0.00239	0.021391267	0.00192	-3.621	0.18161	T	.	.	0.051	0.00248	B	.;.;.	.;.;.	1.685801	0.21482	15.22	0.79762642768768188	0.12889	0.34911	0.25178	N	AEFDBI	0.123063	0.23849	N	-0.600485232704677	0.18930	0.9867774	-0.425875979452659	0.24241	1.32635	0.00128282869070115	0.08410	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.567892	0.33627	0	.	.	4.99	2.77	0.31614	0.802000	0.26730	2.817000	0.34941	0.587000	0.30956	0.801000	0.29734	0.997000	0.33255	0.949000	0.49496	0.0:0.5809:0.1687:0.2504	5.018	0.13687	988	0.01987	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	775.98	34	chr19	55312021	.	C	G	775.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.000e-01;DP=795;ExcessHet=0.0000;FS=1.812;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.35;ReadPosRankSum=-1.480e+00;SOR=0.984	GT:AD:DP:GQ:PL	0/1:46,37:83:99:790,0,1094	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	1/1:0,83,0:83:99:.:.:3642,256,0,3642,256,3642	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	1/1:0,83,0:83:99:.:.:3642,256,0,3642,256,3642	0	18	2	0
chr19	55358733	55358733	G	A	exonic	FAM71E2	.	nonsynonymous SNV	FAM71E2:NM_001145402:exon9:c.C2135T:p.S712L,	.	.	409	1112	1	0	0	1	0.000449438	.	.	3251343	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.0	B	.	.	1.000	N	0	N	2.98	T	-0.941	T	0.012	T	0.033	0.840	8.393	-5.81	-1.407	-0.352	8.800	0.007	0.0066955764549	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1456530912	2.862e-05	2.805e-05	2.682e-05	3.048e-05	3.34e-05	2.157e-05	1.899e-05	2.445e-05	2.17e-05	0	0	0	0	0	0	3.34e-05	3.453e-05	2.53e-05	3.285e-05	3.283e-05	5.138e-05	1.344e-05	4.409e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.409e-05	0.0005	0	1.0	0.00964	T	0.435	0.13518	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.115	0.04602	N	2.98	0.09356	T	-0.18	0.09796	N	0.021	0.00339	-0.9411	0.42442	T	0.012	0.04747	T	9	0.021095276	0.00498	T	0.006696	0.17671	T	0.007	0.00512	.	.	0.0138822411134	0.00435	0.007520596027998496	0.00718	.	.	0.231614053249	0.02090	T	0.001159	0.00660	T	-0.460913	0.00970	T	-0.88436	0.00619	T	0.0374858414509292	0.03241	T	0.417958	0.11033	T	0.02120233	0.00711	0.043344103	0.05370	0.02120233	0.00710	0.043344103	0.05369	-3.276	0.13429	T	.	.	0.087	0.11269	B	.	.	-0.912300	0.00906	0.033	0.84054016894143413	0.15070	0.01094	0.04022	N	AEFGBI	0.060190	0.11422	N	-1.74994518293771	0.00680	0.02932219	-1.82054744807843	0.00696	0.03097456	0.00590163707132853	0.11075	0.516011	0.20929	0	0.610034	0.51514	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.61	-5.81	0.02148	-1.107000	0.03427	-3.064000	0.03093	-0.682000	0.04210	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1883:0.0:0.6673:0.1445	8.800	0.34064	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	1	0	0	0	0.02381	2041.98	100	chr19	55358733	.	G	A	2041.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=1992;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=0.738;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,75:147:99:0|1:55358733_G_A:2056,0,1770:55358733	20	0	1	0
chr19	57328552	57328552	G	T	exonic	ZNF543	.	nonsynonymous SNV	ZNF543:NM_213598:exon4:c.G1090T:p.V364L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.536	P	0.497	P	.	.	0.849	N	0.54	N	2.23	T	-1.034	T	0.045	T	0.135	3.397	17.47	3.14	1.750	.	13.512	0.139	0.00612646553446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.472e-06	5.472e-06	4.084e-06	6.875e-06	7.194e-06	2.35e-06	1.7e-06	3.09e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.002	0.79402	D	0.536	0.37827	P	0.497	0.47562	P	.	.	.	.	0.849142	0.28522	N	0.405	0.12330	N	2.23	0.18083	T	-1.21	0.30762	N	0.062	0.03392	-1.0344	0.19046	T	0.045	0.19275	T	9	0.13038427	0.24813	T	0.006126	0.16023	T	0.139	0.37390	0.534	0.64293	0.33110744837	0.32714	0.018405524630555507	0.01794	0.039798405049	0.04256	0.326663017273	0.14430	T	0.015764	0.13159	T	-0.255133	0.13476	T	-0.604257	0.12456	T	0.463809311389923	0.31304	T	0.172883	0.01650	T	0.21314487	0.43686	0.18536848	0.41645	0.21314487	0.43686	0.18536848	0.41644	-5.878	0.45247	T	.	.	0.217	0.44656	B	.	.	3.297845	0.45254	22.1	0.99350871939962926	0.60574	0.93247	0.57710	D	AEFGBCI	0.268026	0.38461	N	-0.225342208873437	0.32095	1.806519	-0.272509101133729	0.29008	1.621806	0.999992836240589	0.74766	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	3.14	3.14	0.35196	2.710000	0.46837	.	.	0.676000	0.76740	0.177000	0.24026	0.000000	0.08366	0.170000	0.20979	0.0:0.0:1.0:0.0	13.512	0.60973	541	0.72942	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3020.98	33	chr19	57328552	.	G	T	3020.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.750e-01;DP=1384;ExcessHet=0.0000;FS=3.724;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=0.476;SOR=0.498	GT:AD:DP:GQ:PL	0/1:115,117:232:99:3035,0,3148	20	0	1	0
chr19	57493824	57493824	G	-	exonic	ZNF419	.	frameshift deletion	ZNF419:NM_001098495:exon3:c.1132delG:p.G378Efs*164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.264e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs773430746	8.893e-06	8.893e-06	8.168e-06	9.626e-06	1.169e-05	4.96e-06	3.82e-06	6.52e-06	5.03e-06	0	0	0	0	0	0	1.169e-05	0	0	6.569e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2177.94	42	chr19	57493823	.	TG	T	2177.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.962;DP=985;ExcessHet=0.0000;FS=2.096;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.23;ReadPosRankSum=2.07;SOR=0.523	GT:AD:DP:GQ:PL	0/1:73,70:143:99:2192,0,2272	20	0	1	0
chr19	57572870	57572870	C	G	exonic	ZNF416	.	nonsynonymous SNV	ZNF416:NM_001353405:exon3:c.G818C:p.C273S	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.325	B	0.14	B	.	.	1.000	N	-0.775	N	2.31	T	-0.959	T	0.016	T	0.226	3.542	18.07	-3.82	-0.481	-1.866	10.534	0.045	0.00268426695289	.	0.000199681	5.766e-05	0	0.0003	0	0	0	0	0.0002	9.7e-05	15	154602	rs529743529	3.694e-05	3.694e-05	2.995e-05	4.401e-05	0.0007	2.894e-05	2.592e-05	0.0005	0.0004	0	0.0007	0	0	0	0	4.497e-06	1.656e-05	0.0002	3.293e-05	3.285e-05	5.153e-05	1.348e-05	0.0004	1.263e-05	8e-06	7.318e-05	3.039e-05	0	0	0.0002	0	0	0	0	0	0	0.0004	0.168	0.23007	T	0.126	0.35205	T	0.325	0.33132	B	0.14	0.33554	B	.	.	.	.	1	0.08975	N	-0.575	0.02294	N	2.31	0.16794	T	0.83	0.01787	N	0.101	0.08366	-0.9590	0.39368	T	0.016	0.06473	T	9	0.022625625	0.00570	T	0.002684	0.05492	T	0.045	0.12272	0.596	0.72617	0.0716867268079	0.06686	0.0323138976205663	0.03179	0.472728957229	0.46508	0.341736406088	0.16698	T	0.023465	0.17908	T	-0.560514	0.00252	T	-0.681006	0.06922	T	0.050805456889717	0.05640	T	0.119588	0.00922	T	0.027959136	0.02064	0.08357865	0.19163	0.027959136	0.02063	0.08357865	0.19163	-4.716	0.33598	T	.	.	0.314	0.54064	B	.	.	0.637028	0.10056	6.805	0.97267610869670074	0.33121	0.03717	0.09005	N	AEFDBHCI	0.040856	0.06133	N	-1.06031991385095	0.07387	0.3429775	-1.09925283904658	0.07715	0.3763924	0.115653832677393	0.16760	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.74	-3.82	0.04000	-3.495000	0.00503	.	.	0.544000	0.25403	0.000000	0.06391	0.000000	0.08366	0.426000	0.27362	0.0:0.2599:0.0:0.7401	10.534	0.44178	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	1612.98	35	chr19	57572870	.	C	G	1612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.962e+00;DP=1046;ExcessHet=0.0000;FS=1.340;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=-1.366e+00;SOR=0.855	GT:AD:DP:GQ:PL	0/1:81,61:142:99:1627,0,2296	20	0	1	0
chr19	57909620	57909620	C	T	exonic	ZNF417	.	nonsynonymous SNV	ZNF417:NM_001297734:exon3:c.G655A:p.A219T	.	.	444	1075	3	0	0	3	0.0013934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.421	B	0.037	B	.	.	1.000	N	0.755	N	1.62	T	-1.088	T	0.031	T	0.076	0.493	6.672	-4.84	-2.348	-2.863	0.487	0.023	0.000697404789858	.	.	0.0001	0	0	0	0	0.0003	0	0	3.84e-05	1	26028	rs201920834	9.67e-05	9.645e-05	0.0001	9.24e-05	0.0002	8.331e-05	7.869e-05	7.701e-05	7.188e-05	3.017e-05	8.99e-05	0.0010	0	0	0.0002	9.193e-05	8.301e-05	1.162e-05	8.27e-05	7.911e-05	0.0001	5.678e-05	0.0001	4.701e-05	3.673e-05	8.035e-05	6.086e-05	0	0	0	0.0006	0	0	0	0.0001	0	0	0.229	0.18371	T	0.246	0.23984	T	0.421	0.35387	B	0.037	0.23121	B	.	.	.	.	1	0.08975	N	0.735	0.18861	N	1.62	0.28189	T	-1.31	0.32791	N	0.033	0.01740	-1.0876	0.05943	T	0.031	0.13374	T	9	0.025467783	0.00740	T	6.97E-4	0.00435	T	0.023	0.04649	.	.	0.282575091529	0.27877	0.0034047918738117147	0.00318	.	.	0.19031265378	0.00231	T	0.005445	0.16988	T	-0.3513	0.04646	T	-0.742394	0.03790	T	0.016194158638633	0.00394	T	0.036263	0.00262	T	0.015289697	0.00131	0.045671638	0.06197	0.015289697	0.00131	0.045671638	0.06196	-4.43	0.29961	T	.	.	0.071	0.04277	B	.;.	.;.	-0.664955	0.01404	0.082	0.69765217831698656	0.09077	0.00335	0.01744	N	AEFGBI	0.028117	0.02418	N	-1.36917056272296	0.02931	0.1301767	-1.52911053336963	0.02123	0.09717009	0.141770680213418	0.17286	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	2.42	-4.84	0.02920	-1.709000	0.01990	.	.	0.448000	0.21234	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.3868:0.1752:0.1285:0.3095	0.487	0.00520	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2196.98	33	chr19	57909620	.	C	T	2196.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.559e+00;DP=1185;ExcessHet=0.0000;FS=82.623;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=34.02;MQRankSum=2.81;QD=19.44;ReadPosRankSum=-6.660e-01;SOR=0.872	GT:AD:DP:GQ:PL	0/1:31,82:113:99:2211,0,674	20	0	1	0
chr20	3758560	3758560	C	A	exonic	C20orf27	.	nonsynonymous SNV	C20orf27:NM_001039140:exon3:c.G213T:p.E71D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.997	D	0.941	D	0.000	U	0.997	D	0.695	N	.	.	-1.055	T	0.116	T	0.394	2.138	13.11	3.03	0.825	1.835	9.345	0.039	0.00652344141036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.20230	T	0.093	0.39799	T	0.069	0.23796	B	0.031	0.21939	B	0.000030	0.55875	U	0.068212	0.996872	0.43474	D	1.545	0.39105	L	.	.	.	-1.37	0.36586	N	0.418	0.45803	-1.0551	0.13013	T	0.116	0.41120	T	9	0.11211845	0.21020	T	0.006523	0.17186	T	0.089	0.25827	0.378	0.39319	0.236278675362	0.23226	0.4044629939666619	0.40362	0.219943266305	0.24538	.	.	.	0.043469	0.26512	T	-0.0475091	0.44826	T	-0.30602	0.44086	T	0.484621047973633	0.32067	T	0.671933	0.28057	T	0.061830804	0.12847	0.06956585	0.14674	0.061830804	0.12846	0.06956585	0.14674	-3.219	0.14537	T	.	.	0.182	0.39494	B	.;.;.	.;.;.	2.318434	0.29686	18.20	0.99271868779899008	0.57593	0.91736	0.54154	D	AEFBI	0.490974	0.52823	N	-0.166215584547436	0.34547	1.973217	-0.0956811214337003	0.35568	2.059353	0.894322025121912	0.25927	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.96	3.03	0.34070	2.030000	0.40728	1.408000	0.26256	-0.182000	0.10109	0.994000	0.38300	1.000000	0.68203	0.911000	0.44643	0.0:0.826:0.0:0.174	9.345	0.37265	744	0.52588	.;.;.	.	.	.	.	.	Uncertain significance	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	1190.98	39	chr20	3758560	.	C	A	1190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.809e+00;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=0.685;SOR=0.662	GT:AD:DP:GQ:PL	0/1:55,54:109:99:1205,0,1334	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	0/1:67,40:116:99:379,0,1114	5	0	16	0
chr20	5069330	5069330	C	A	exonic	TMEM230	.	nonsynonymous SNV	TMEM230:NM_001330987:exon4:c.G242T:p.R81L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.233e-07	3.42e-06	0	1.466e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.728e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.23253	.	.	.	.	.	.	.	0.086243	0.14639	T	.	.	.	.	.	.	.	0.195762928549	0.19159	.	.	.	.	.	.	.	0.006993	0.06413	T	-0.439054	0.01310	T	-0.868447	0.00757	T	.	.	.	0.347365	0.07649	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.19958	B	.;.	.;.	-0.222496	0.02979	0.445	0.70096944835184782	0.09185	0.00979	0.03733	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.80073855429872	0.24181	0.120566	0.03089	0	0.121304	0.03410	0	0.083675	0.02720	0	0.092715	0.02821	0	0.062361	0.14921	1.53	1.53	0.22224	-0.507000	0.06434	-1.482000	0.05340	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.2233:0.0:0.7767	3.499	0.07226	922	0.19044	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	868.98	34	chr20	5069330	.	C	A	868.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.832;DP=747;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=-5.580e-01;SOR=0.823	GT:AD:DP:GQ:PL	0/1:34,34:68:99:883,0,819	20	0	1	0
chr20	10049705	10049705	C	T	exonic	ANKEF1	.	nonsynonymous SNV	ANKEF1:NM_198798:exon6:c.C1136T:p.A379V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.954	P	0.437	B	0.000	D	0.977	D	1.67	L	-0.15	T	-0.803	T	0.214	T	0.653	0.153	4.825	5.6	2.788	3.864	15.463	0.233	0.0507228094859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	0.08237	T	1.0	0.01155	T	0.954	0.54400	P	0.437	0.45591	B	0.000426	0.44522	D	0.248859	0.976597	0.39290	D	1.79	0.46772	L	-0.15	0.65192	T	-0.22	0.10480	N	0.581	0.60241	-0.8033	0.54950	T	0.214	0.57560	T	10	0.6874958	0.71651	D	0.050723	0.64362	D	0.233	0.53499	0.619	0.75347	0.7457264781	0.74343	0.5138078995225664	0.51302	0.716833638651	0.62019	0.534552574158	0.43675	T	0.008667	0.07944	T	0.0446227	0.57649	T	-0.173679	0.57107	T	0.755097210407257	0.43572	D	0.757524	0.38090	T	0.07955835	0.18183	0.08178266	0.18613	0.07955835	0.18183	0.08178266	0.18613	-2.095	0.03562	T	.	.	0.28	0.51419	B	.;.	.;.	2.403080	0.30876	18.57	0.86540061954191816	0.16604	0.82540	0.41753	D	AEFDIJ	0.161342	0.28738	N	0.245821332840929	0.53431	3.512139	0.260173255748146	0.53229	3.492999	0.0330069554246567	0.14084	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.6	5.6	0.84997	3.887000	0.55910	5.937000	0.51416	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.135000	0.19760	0.0:0.862:0.138:0.0	15.463	0.75106	949	0.11373	Ankyrin repeat-containing domain;Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.125	207.1	75	chr20	10049705	.	C	T	207.1	.	AC=4;AF=0.125;AN=32;BaseQRankSum=-4.013e+00;DP=1811;ExcessHet=0.6776;FS=252.919;InbreedingCoeff=-0.1874;MLEAC=4;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=0.56;ReadPosRankSum=1.59;SOR=10.021	GT:AD:DP:GQ:PL	0/1:72,30:112:66:66,0,1721	12	0	4	5
chr20	10408774	10408774	T	C	exonic	MKKS	.	nonsynonymous SNV	MKKS:NM_018848:exon4:c.A1015G:p.I339V	Bardet-Biedl syndrome 6, Autosomal recessive;McKusick-Kaufman syndrome, Autosomal recessive	YES	3	1496	21	2	0	25	0.00828638	.	.	106463	not_provided|McKusick-Kaufman_syndrome|Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_6|not_specified	MedGen:C3661900|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700,Orphanet:2473|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231,Orphanet:110|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.13	T	0.008	B	0.042	B	0.977	N	1.000	N	0.515	N	-1.3	T	-0.868	T	0.258	T	0.662	0.374	6.028	-4.87	-0.854	-2.046	7.534	0.489	0.0291197997771	0.0030	0.00219649	0.0044	0.0002	0.0023	0	0.0063	0.0054	0.0044	0.0060	0.0042173	652	154602	rs137853909	0.0042	0.0042	0.0041	0.0043	0.0090	0.0041	0.0041	0.0071	0.0064	0.0005	0.0024	0.0023	2.521e-05	0.0081	0.0090	0.0043	0.0040	0.0056	0.0036	0.0036	0.0036	0.0036	0.0050	0.0034	0.0033	0.0046	0.0044	0.0004	0	0.0048	0.0029	0	0.0074	0.0102	0.0050	0.0057	0.0039	0.421	0.09806	T	0.821	0.03817	T	0.008	0.14655	B	0.042	0.24114	B	0.977114	0.07816	N	1.008790	0.999634	0.20820	N	0.575	0.15311	N	-1.3	0.79571	T	-0.52	0.16187	N	0.663	0.68950	-0.8682	0.50664	T	0.258	0.62823	T	10	0.009791404	0.00220	T	0.02912	0.51684	D	0.489	0.77656	.	.	0.455816718377	0.45207	0.266399546238906	0.26552	0.09311429178	0.10522	0.252166539431	0.03999	T	0.322819	0.69379	T	-0.28378	0.10270	T	-0.17528	0.56960	T	0.012114446485306	0.00193	T	0.593441	0.21910	T	0.02074044	0.00644	0.028641589	0.01119	0.020595802	0.00623	0.02819071	0.01033	-3.188	0.12334	T	0.09513167477338763	0.06441	0.064	0.01645	B	.;.	.;.	-0.691902	0.01340	0.074	0.63355510148389349	0.07202	0.08530	0.14447	N	AEFBI	0.132921	0.25241	N	-1.10111141240403	0.06624	0.3054509	-1.12856201002048	0.07158	0.3471643	0.999987309373211	0.51787	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.87	-4.87	0.02893	-1.552000	0.02280	-2.097000	0.04217	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.965000	0.52897	0.088:0.5145:0.0829:0.3146	7.534	0.26871	861	0.33516	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	5703.08	34	chr20	10408774	.	T	C	5703.08	.	AC=2;AF=0.048;AN=42;DP=1082;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.04;SOR=1.650	GT:AD:DP:GQ:PL	1/1:0,178:178:99:5731,534,0	20	1	0	0
chr20	13279833	13279833	C	G	exonic	ISM1	.	nonsynonymous SNV	ISM1:NM_080826:exon3:c.C578G:p.P193R,	.	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.177	B	0.1	B	0.001	D	1.000	D	0.895	L	0.99	T	-1.084	T	0.009	T	0.384	1.849	12.14	6.07	2.884	4.206	7.985	0.106	.	0.0007	0.0207668	0.0153	0.0022	0.0990	0.0432	0.0226	0.0016	0.0134	0.0021	0.0139131	2151	154602	rs3747933	0.0050	0.0050	0.0055	0.0045	0.0843	0.0049	0.0048	0.0821	0.0811	0.0011	0.0843	0.0007	0.0305	0.0236	0.0012	0.0003	0.0070	0.0023	0.0082	0.0082	0.0073	0.0090	0.0423	0.0078	0.0076	0.0377	0.0365	0.0020	0	0.0402	0.0023	0.0423	0.0219	0	0.0007	0.0081	0.0037	0.508	0.07545	T	0.648	0.06788	T	0.177	0.28923	B	0.1	0.30674	B	0.000770	0.41888	D	0.269523	0.615054	0.81001	D	1.355	0.33814	L	0.98	0.42122	T	-1.41	0.34795	N	0.144	0.14480	-1.0838	0.06628	T	0.009	0.03448	T	10	0.0027338564	0.00043	T	.	.	.	0.106	0.30130	.	.	.	.	0.47255277218773234	0.47174	0.160431110887	0.18105	0.377574324608	0.21911	T	0.01391	0.11944	T	-0.500488	0.00568	T	-0.422274	0.30815	T	0.0170706280561544	0.00454	T	0.872113	0.57861	D	0.051312458	0.09403	0.06273739	0.12319	0.051312458	0.09403	0.06273739	0.12319	-3.335	0.14193	T	.	.	0.076	0.05800	B	.	.	2.408556	0.30953	18.59	0.9654291165180402	0.30193	0.98315	0.81549	D	AEFBI	0.728596	0.67657	D	0.0404927520590241	0.43706	2.658343	0.25046004907842	0.52677	3.44082	0.998527050356906	0.37129	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	6.07	6.07	0.98675	3.935000	0.56272	4.922000	0.46051	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.896000	0.43308	0.0:0.8162:0.0:0.1838	7.985	0.29368	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6565.08	40	chr20	13279833	.	C	G	6565.08	.	AC=2;AF=0.048;AN=42;DP=981;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.18;SOR=0.834	GT:AD:DP:GQ:PL	1/1:0,225:225:99:6593,673,0	20	1	0	0
chr20	25079460	25079460	C	A	exonic	VSX1	.	nonsynonymous SNV	VSX1:NM_001256271:exon2:c.G479T:p.G160V	Keratoconus 1, Autosomal dominant	.	0	1520	1	0	1	2	0.000328839	.	.	344823	not_provided|Polymorphous_corneal_dystrophy	MedGen:C3661900|Human_Phenotype_Ontology:HP:0007915,MONDO:MONDO:0020364,MedGen:C0339284,OMIM:PS122000,Orphanet:98973	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.31	T	0.529	P	0.164	B	0.179	N	1.000	D	1.1	L	-3.74	D	-0.018	T	0.523	D	0.461	1.600	11.31	3.66	2.435	1.693	6.940	0.432	.	.	0.00259585	0.0014	0.0001	0.0002	0.0152	0	6.842e-05	0.0013	0.0006	0.0010737	166	154602	rs74315433	0.0006	0.0006	0.0006	0.0006	0.0193	0.0006	0.0006	0.0182	0.0178	0	0.0002	0	0.0193	0	0	2.249e-05	0.0006	0.0005	0.0005	0.0005	0.0004	0.0006	0.0147	0.0004	0.0004	0.0120	0.0110	0	0	0.0002	0	0.0147	0	0	2.94e-05	0	0	0.123	0.32141	T	0.198	0.28860	T	0.529	0.37682	P	0.117	0.34953	B	0.179173	0.17151	N	0.632088	0.999313	0.46639	D	2.175	0.60977	M	-3.74	0.95493	D	-2.55	0.66085	D	0.354	0.45992	-0.0178	0.81884	T	0.523	0.82197	D	10	0.009346396	0.00211	T	.	.	.	0.432	0.73807	.	.	0.923647824411	0.92287	0.1898148162174202	0.18899	0.136192186029	0.15359	0.481154680252	0.36216	T	0.145083	0.48204	T	-0.193708	0.21715	T	-0.0393483	0.67746	D	0.0175982084956517	0.00493	T	0.373163	0.17787	T	0.1878623	0.40260	0.23608072	0.48869	0.20403606	0.42500	0.21583614	0.46187	-8.785	0.66869	D	0.6085046700971293	0.67593	0.141	0.35829	B	.;.;.;.	.;.;.;.	2.110495	0.26858	17.26	0.9744118239460493	0.33977	0.51151	0.28829	D	AEFDBI	0.113648	0.22415	N	-0.152816130500135	0.35115	2.012894	-0.0398514073449713	0.37932	2.227791	0.999776921806668	0.42865	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	4.68	3.66	0.41111	1.391000	0.34083	2.795000	0.34819	0.599000	0.40250	0.884000	0.31069	0.994000	0.32194	0.505000	0.29129	0.253:0.5942:0.1528:0.0	6.940	0.23668	808	0.43318	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	4148.08	34	chr20	25079460	.	C	A	4148.08	.	AC=2;AF=0.048;AN=42;DP=836;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.19;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,133:133:99:4176,399,0	20	1	0	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	0/1:105,49:160:99:196,0,1767	2	0	19	0
chr20	38497424	38497424	A	G	exonic	RALGAPB	.	nonsynonymous SNV	RALGAPB:NM_001282917:exon4:c.A461G:p.E154G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.59	P	0.275	B	0.000	D	1.000	D	1.555	L	-0.07	T	-0.786	T	0.212	T	0.631	3.317	17.15	5.32	2.004	9.089	15.319	0.253	0.0347406351716	0.0002	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376920561	1.095e-05	1.095e-05	1.089e-05	1.1e-05	1.439e-05	6.48e-06	5.25e-06	8.52e-06	6.89e-06	0	0	0	0	0	0	1.439e-05	0	0	3.287e-05	3.284e-05	6.426e-05	0	5.882e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	2.414e-05	0	0	0	0	0	0	5.882e-05	0	0	0.494	0.07895	T	0.411	0.14500	T	0.447	0.36006	B	0.168	0.35187	B	0.000002	0.62929	D	0.100373	1	0.81001	D	1.39	0.34934	L	-0.07	0.63738	T	-1.92	0.44657	N	0.674	0.68690	-0.7859	0.55967	T	0.212	0.57321	T	10	0.46004295	0.59228	T	0.034741	0.55878	D	0.253	0.56294	.	.	0.15499578495	0.15088	0.380808061166969	0.37995	1.03285227811	0.75478	0.6066583395	0.53844	T	0.054125	0.29635	T	0.0640633	0.60119	T	-0.130268	0.60949	T	0.77552193403244	0.44774	D	0.931907	0.74605	D	0.17901613	0.38952	0.15158099	0.35700	0.17901613	0.38951	0.15158099	0.35699	-9.597	0.71461	D	.	.	0.313	0.53989	B	.;.;.	.;.;.	4.538655	0.71321	25.7	0.99791897088501891	0.87750	0.99570	0.97553	D	AEFDBIJ	0.854658	0.77170	D	0.295297329439441	0.55911	3.755122	0.417932989800249	0.62682	4.487785	0.999999997091574	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.32	5.32	0.75377	9.078000	0.93430	11.194000	0.88775	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.319	0.73814	855	0.34697	.;.;.	.	.	.	.	.	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	0.1667	341.57	131	chr20	38497424	.	A	G	341.57	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-3.982e+00;DP=1625;ExcessHet=2.5830;FS=165.447;InbreedingCoeff=-0.2003;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.42;ReadPosRankSum=-1.800e-01;SOR=9.953	GT:AD:DP:GQ:PL	0/1:91,31:122:64:64,0,1579	14	0	7	0
chr20	38902745	38902745	G	T	exonic	PPP1R16B	.	nonsynonymous SNV	PPP1R16B:NM_001172735:exon6:c.G649T:p.A217S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.273	B	0.052	B	0.002	N	0.990	D	0.805	L	0.81	T	-0.923	T	0.130	T	0.252	0.856	8.464	4.42	2.440	2.492	17.577	0.074	0.0162211507874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.501	0.07720	T	0.634	0.07105	T	0.18	0.29046	B	0.052	0.25551	B	0.002449	0.36537	N	0.270733	0.989819	0.41028	D	1.04	0.26193	L	-0.1	0.64264	T	-0.17	0.10480	N	0.257	0.32370	-0.9229	0.45155	T	0.130	0.44048	T	10	0.15453303	0.29146	T	0.016221	0.37369	T	0.074	0.21613	0.393	0.41770	0.377143385212	0.37329	0.16357842038137338	0.16277	0.483929758565	0.47323	0.509059846401	0.40091	T	0.065175	0.32622	T	-0.102142	0.36070	T	-0.384497	0.35196	T	0.373864859342575	0.27946	T	0.817118	0.47377	T	0.056057654	0.10978	0.07404036	0.16156	0.056057654	0.10977	0.07404036	0.16156	-2.866	0.14735	T	.	.	0.084	0.11941	B	.;.	.;.	2.542028	0.32887	19.18	0.75629045313930865	0.11149	0.73404	0.35906	D	AEFGBCI	0.407364	0.47947	N	-0.516509176501018	0.21546	1.144251	-0.430225913111368	0.24115	1.31876	0.99999999988969	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.42	4.42	0.52775	2.685000	0.46626	8.591000	0.77687	0.676000	0.76740	0.725000	0.28872	1.000000	0.68203	0.829000	0.39076	0.0:0.0:1.0:0.0	17.577	0.87854	945	0.12563	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3259.08	35	chr20	38902745	.	G	T	3259.08	.	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=31.95;SOR=0.952	GT:AD:DP:GQ:PL	1/1:0,102:102:99:3287,306,0	20	1	0	0
chr20	41423590	41423590	C	T	exonic	CHD6	.	nonsynonymous SNV	CHD6:NM_032221:exon30:c.G4457A:p.R1486H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.26	M	-3.5	D	0.981	D	0.911	D	0.946	5.783	36	6.07	2.884	6.094	20.644	0.806	0.38423543356	7.7e-05	0.000199681	0.0003	0.0004	0	0	0	0	0	0.0019	0.0002393	37	154602	rs371255892	0.0001	0.0001	8.031e-05	0.0002	0.0018	0.0001	0.0001	0.0015	0.0014	0.0003	2.236e-05	0	2.519e-05	1.872e-05	0.0002	8.993e-06	0.0001	0.0018	0.0001	0.0001	3.854e-05	0.0002	0.0017	7.571e-05	6.277e-05	0.0008	0.0006	0.0002	0	0.0001	0	0.0002	0	0	0	0	0.0017	0.033	0.44358	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.83170	D	0.000006	0.62929	D	0.000000	1	0.81001	D	2.725	0.79712	M	-3.5	0.94658	D	-4.78	0.80510	D	0.321	0.36148	0.981	0.96880	D	0.911	0.97046	D	10	0.10755578	0.19983	T	0.384235	0.93042	D	0.806	0.93699	.	.	0.965989590105	0.96562	0.6932457179725743	0.69264	0.271897067302	0.29697	0.526541352272	0.42548	T	0.606959	0.87486	D	0.163168	0.70495	D	0.45434	0.93683	D	0.135770559310913	0.15906	T	0.943706	0.78720	D	0.2650059	0.49569	0.29134145	0.55159	0.2650059	0.49569	0.29134145	0.55158	-7.703	0.59029	D	.	.	0.112	0.22098	B	.	.	4.713495	0.75742	26.4	0.99957056788077625	0.99981	0.98579	0.84315	D	AEFBI	0.726806	0.67535	D	0.870525614528207	0.90244	10.31627	0.865902557029683	0.93910	12.36699	0.999999999999998	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	6.176000	0.71885	2.287000	0.31935	0.599000	0.40250	1.000000	0.71638	0.986000	0.30841	1.000000	0.97212	0.0:1.0:0.0:0.0	20.644	0.99572	903	0.23940	.	.	.	.	.	.	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	4901.08	37	chr20	41423590	.	C	T	4901.08	.	AC=2;AF=0.048;AN=42;DP=870;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.17;SOR=0.872	GT:AD:DP:GQ:PL	1/1:0,168:168:99:4929,503,0	20	1	0	0
chr20	44390667	44390667	C	T	exonic	HNF4A	.	stopgain	HNF4A:NM_001287182:exon2:c.C28T:p.Q10X	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, Autosomal dominant;MODY, type I, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99991	0.51042	D	.	.	.	.	.	.	.	.	.	0.622	0.63713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473394	0.93464	D	0.442221	0.93382	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.229172	0.16240	12.41	0.87854779720909093	0.17531	0.12823	0.17501	N	AEFDBI	0.075496	0.15163	N	.	.	.	.	.	.	0.999321041388792	0.39149	0.032271	0.00213	1	0.059962	0.00310	0	0.056003	0.00319	0	0.058706	0.01089	0	.	.	4.01	2.02	0.25641	0.091000	0.14885	-0.662000	0.07976	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.997000	0.79791	0.1782:0.6264:0.1953:0.0	7.537	0.26883	415	0.81806	.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2111.08	33	chr20	44390667	.	C	T	2111.08	.	AC=2;AF=0.048;AN=42;DP=761;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.73;SOR=0.971	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2139,213,0	20	1	0	0
chr20	45222308	45222308	G	A	exonic	SEMG2	.	nonsynonymous SNV	SEMG2:NM_003008:exon2:c.G676A:p.V226M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.558	P	0.103	B	.	.	1.000	N	1.355	L	3.05	T	-1.000	T	0.015	T	0.083	0.015	4.090	-1.78	-0.407	-0.095	4.349	0.010	0.000634508176002	7.7e-05	.	1.652e-05	0.0002	0	0	0	0	0	0	3.23e-05	5	154602	rs368513832	7.867e-05	7.935e-05	7.895e-05	7.839e-05	9.802e-05	6.667e-05	6.201e-05	8.301e-05	7.719e-05	0	2.237e-05	0	0	1.872e-05	0	9.802e-05	3.312e-05	2.319e-05	9.198e-05	9.193e-05	8.993e-05	9.412e-05	0.0002	5.527e-05	4.364e-05	0.0001	8.45e-05	0.0002	0	0	0	0	0	0	7.348e-05	0	0	0.129	0.26852	T	0.11	0.37310	T	0.203	0.29776	B	0.031	0.21939	B	.	.	.	.	1	0.08975	N	1.52	0.38360	L	3.05	0.08721	T	-0.49	0.15578	N	0.175	0.18784	-1.0004	0.29803	T	0.015	0.05897	T	9	0.057528794	0.06621	T	6.35E-4	0.00319	T	0.010	0.01040	.	.	0.0401082797425	0.02173	0.030632605793975465	0.03012	0.025254443385	0.02574	0.320088505745	0.13434	T	9.0E-4	0.00463	T	-0.533732	0.00365	T	-0.767777	0.02842	T	0.0135432201542109	0.00249	T	0.638636	0.25202	T	0.02730711	0.01904	0.038513582	0.03738	0.02730711	0.01904	0.038513582	0.03738	-4.884	0.35555	T	.	.	0.252	0.48705	B	.	.	0.196299	0.05818	2.259	0.8801928245577918	0.17655	0.00042	0.00346	N	AEFGBI	0.012828	0.00152	N	-1.15672338180152	0.05670	0.2590893	-1.3282894177434	0.04068	0.1911366	7.77847318903493E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	1.38	-1.78	0.07527	-0.102000	0.10926	-0.367000	0.09633	-0.102000	0.15922	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5134:0.0:0.4866:0.0	4.349	0.10581	906	0.23090	.	.	.	.	.	.	Uncertain significance	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	8722.08	156	chr20	45222308	.	G	A	8722.08	.	AC=2;AF=0.048;AN=42;DP=1741;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.49;SOR=0.889	GT:AD:DP:GQ:PL	1/1:0,277:277:99:8750,831,0	20	1	0	0
chr20	58467350	58467350	C	T	exonic	APCDD1L	.	nonsynonymous SNV	APCDD1L:NM_153360:exon3:c.G497A:p.R166Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.196	B	0.017	B	0.278	N	1.000	N	1.725	L	2.28	T	-1.010	T	0.027	T	0.088	1.459	10.82	-3.64	-0.784	-0.401	6.417	0.024	0.0273775042212	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1473344087	2.257e-06	4.788e-06	1.483e-06	3.054e-06	1.405e-05	6e-07	1.7e-07	3.2e-07	1.2e-07	0	0	0	0	0	0	1.893e-06	0	1.405e-05	6.575e-06	6.568e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.313	0.13879	T	0.203	0.27325	T	0.116	0.26475	B	0.012	0.16012	B	0.278216	0.14995	N	0.652107	1	0.08975	N	0.615	0.15706	N	2.28	0.17271	T	-1.35	0.33598	N	0.083	0.05929	-1.0105	0.26760	T	0.027	0.11751	T	10	0.051164657	0.04956	T	0.027378	0.50196	D	0.024	0.04979	.	.	0.0297737177859	0.01360	0.5005420416875103	0.49975	0.357191445614	0.37446	0.518529891968	0.41418	T	0.001945	0.01356	T	-0.360176	0.04120	T	-0.755144	0.03289	T	0.150233089923859	0.17122	T	0.607939	0.22935	T	0.037757333	0.04900	0.051912818	0.08450	0.037757333	0.04900	0.051912818	0.08450	-4.158	0.26141	T	.	.	0.083	0.09239	B	.	.	0.365084	0.07376	3.998	0.9830951630567708	0.40125	0.10508	0.15996	N	AEFDBI	0.087715	0.17785	N	-1.00145853340321	0.08573	0.4025057	-1.10191486339967	0.07663	0.3736651	0.0640255069959793	0.15316	0.580535	0.33130	0	0.573888	0.26702	0	0.603688	0.36954	0	0.604944	0.38103	0	.	.	5.12	-3.64	0.04225	-0.370000	0.07578	-3.416000	0.02803	0.589000	0.31548	0.000000	0.06391	0.000000	0.08366	0.482000	0.28611	0.0:0.3781:0.1247:0.4972	6.417	0.20924	485	0.77085	APCDD1 domain|APCDD1 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	413.98	28	chr20	58467350	.	C	T	413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.052;DP=709;ExcessHet=0.0000;FS=1.258;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=-9.500e-02;SOR=0.941	GT:AD:DP:GQ:PL	0/1:19,17:36:99:428,0,481	20	0	1	0
chr20	62813171	62813171	C	0	exonic	OGFR	.	.	.	.	.	408	1041	47	1	25	74	0.0229939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	3398.84	55	chr20	62813171	.	C	T,*	3398.84	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=1.06;DP=927;ExcessHet=0.0409;FS=0.499;InbreedingCoeff=0.3189;MLEAC=3,2;MLEAF=0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=1.05;SOR=0.630	GT:AD:DP:GQ:PL	0/1:34,27,0:61:99:624,0,754,725,835,1560	17	1	1	0
chr20	62854155	62854155	C	T	exonic	TCFL5	.	nonsynonymous SNV	TCFL5:NM_001301726:exon5:c.G1238A:p.R413H	.	.	437	1079	6	0	0	6	0.00277264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	0.999	D	0	N	-4.65	D	1.094	D	0.900	D	0.474	3.100	16.35	5.54	2.606	4.530	19.476	0.572	0.633903717718	0.0032	0.00199681	0.0028	0.0014	0.0012	0	0.0005	0.0039	0.0022	0.0027	0.0028978	448	154602	rs141195716	0.0038	0.0038	0.0038	0.0038	0.0043	0.0037	0.0037	0.0042	0.0042	0.0008	0.0024	0.0048	0	0.0002	0.0036	0.0043	0.0036	0.0029	0.0030	0.0030	0.0031	0.0030	0.0058	0.0028	0.0027	0.0048	0.0044	0.0013	0	0.0058	0.0040	0	0.0005	0.0034	0.0041	0.0033	0.0023	0.004	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000033	0.55875	D	0.000000	0.998577	0.45107	D	0	0.06538	N	-4.65	0.97938	D	-3.01	0.62518	D	0.548	0.57433	1.094	0.99422	D	0.900	0.96698	D	10	0.015259206	0.00320	T	0.633904	0.96862	D	0.572	0.82629	.	.	0.875356495459	0.87414	0.7614321275424738	0.76091	1.02607110514	0.75277	0.832493722439	0.86945	D	0.495538	0.81822	T	-0.128677	0.31709	T	0.0443075	0.73210	D	0.0148063299259157	0.00311	T	0.840916	0.52040	T	0.27712202	0.50771	0.24386941	0.49840	0.27712202	0.50771	0.24386941	0.49839	-10.932	0.79284	D	.	.	0.857	0.80642	P	.;.	.;.	4.709713	0.75645	26.4	0.99758208784551872	0.84851	0.95129	0.63544	D	AEFBI	0.510854	0.53973	D	0.50109244366513	0.67154	5.044066	0.565203061357608	0.72462	5.813584	0.999851029941191	0.44174	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	4.637000	0.61044	7.560000	0.60459	0.537000	0.25018	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.476	0.94979	798	0.45050	Myc-type, basic helix-loop-helix (bHLH) domain|Myc-type, basic helix-loop-helix (bHLH) domain|Myc-type, basic helix-loop-helix (bHLH) domain;Myc-type, basic helix-loop-helix (bHLH) domain|Myc-type, basic helix-loop-helix (bHLH) domain|Myc-type, basic helix-loop-helix (bHLH) 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	872.98	39	chr20	62854155	.	C	T	872.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.21;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.91;ReadPosRankSum=0.298;SOR=0.751	GT:AD:DP:GQ:PL	0/1:47,33:80:99:887,0,1149	20	0	1	0
chr21	33550901	33550901	C	T	exonic	SON	.	nonsynonymous SNV	SON:NM_001291411:exon3:c.C1670T:p.A557V	ZTTK syndrome, Autosomal dominant	.	422	1094	5	1	0	7	0.00318907	.	.	742600	SON-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.58	T	1.0	D	0.994	D	0.000	D	1.000	N	0.345	N	2.25	T	-1.060	T	0.061	T	0.277	2.691	14.96	4.31	2.610	-0.196	13.343	0.135	.	0.0002	0.00279553	0.0021	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0137	0.0018305	283	154602	rs201936865	0.0009	0.0009	0.0006	0.0013	0.0123	0.0009	0.0009	0.0117	0.0114	5.988e-05	0.0002	0.0010	0.0003	0	0.0019	0.0002	0.0012	0.0123	0.0006	0.0006	0.0004	0.0007	0.0133	0.0005	0.0004	0.0107	0.0097	9.652e-05	0	6.544e-05	0.0020	0.0002	0	0	0.0001	0.0005	0.0133	0.002	0.72154	D	0.03	0.54159	D	1.0	0.90584	D	0.987	0.82059	D	0.000023	0.55875	D	0.000000	1	0.81001	D	0.805	0.20218	L	2.25	0.19990	T	-1.53	0.46842	N	0.495	0.53357	-1.0602	0.11706	T	0.061	0.25310	T	10	0.006695986	0.00152	T	.	.	.	0.135	0.36572	.	.	0.15499578495	0.15088	0.13737053058666562	0.13661	0.243769190968	0.26884	0.64146053791	0.58772	T	0.027388	0.20067	T	-0.517308	0.00456	T	-0.504822	0.21848	T	0.028522628575415	0.01765	T	0.79772	0.47665	T	0.22092666	0.44658	0.22040382	0.46814	0.20161155	0.42177	0.24920847	0.50486	-4.124	0.25643	T	0.4461515480352679	0.53078	0.175	0.39881	B	.;.;.	.;.;.	4.355081	0.66921	25.0	0.99842129746692609	0.92229	0.18251	0.20183	N	AEFDGBHCI	0.072076	0.14372	N	0.0568385435736507	0.44458	2.719464	0.0585064424871656	0.42484	2.570484	0.99999999385524	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.26	4.31	0.50718	-0.303000	0.08249	-0.586000	0.08350	0.549000	0.26987	0.000000	0.06391	0.987000	0.30940	0.985000	0.61073	0.0:0.8401:0.1599:0.0	13.343	0.59999	870	0.31527	.;.;.	.	.	.	.	.	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	2156.98	34	chr21	33550901	.	C	T	2156.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.21;DP=873;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.44;ReadPosRankSum=-2.750e-01;SOR=0.733	GT:AD:DP:GQ:PL	0/1:47,70:117:99:2171,0,1149	20	0	1	0
chr21	42137640	42137722	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	0	splicing	UMODL1	.	.	.	.	.	432	559	239	60	232	591	0.24306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	10995.83	42	chr21	42137640	.	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	A,*	10995.83	.	AC=12,6;AF=0.333,0.167;AN=36;BaseQRankSum=0.289;DP=1413;ExcessHet=0.4630;FS=5.341;InbreedingCoeff=0.1091;MLEAC=13,7;MLEAF=0.361,0.194;MQ=59.77;MQRankSum=-6.950e-01;QD=17.79;ReadPosRankSum=0.619;SOR=0.413	GT:AD:DP:GQ:PL	1/1:0,71,0:71:99:2879,242,0,2879,242,2879	5	1	7	3
chr21	44405166	44405166	G	A	exonic	TRPM2	.	nonsynonymous SNV	TRPM2:NM_001320350:exon17:c.G2563A:p.G855R	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.89	P	0.303	B	0.002	N	0.661	D	2.155	M	0.04	T	-0.750	T	0.176	T	0.324	2.196	13.30	1.57	0.096	4.013	6.000	0.152	0.115550850473	.	.	0.0001	0	0	0	0	7.612e-05	0	0.0005	0.0001294	20	154602	rs144022462	8.692e-05	8.687e-05	7.899e-05	9.493e-05	0.0003	7.424e-05	6.972e-05	0.0002	0.0002	8.961e-05	6.71e-05	0	0	0	0.0003	7.824e-05	9.937e-05	0.0003	8.536e-05	8.53e-05	7.708e-05	9.4e-05	0.0006	4.954e-05	3.96e-05	0.0002	8.992e-05	2.406e-05	0	6.539e-05	0	0	0	0	0.0001	0	0.0006	0.049	0.40832	D	0.044	0.50514	D	0.604	0.42679	P	0.235	0.38432	B	0.002438	0.36574	N	0.225132	0.660838	0.33050	D	2.295	0.65404	M	0.04	0.62051	T	-2.83	0.62747	D	0.442	0.51672	-0.7502	0.57925	T	0.176	0.52084	T	10	0.25166696	0.42510	T	0.115551	0.79477	D	0.152	0.39956	0.501	0.59304	0.523444149082	0.51990	0.654794290628263	0.65415	0.464884179934	0.45942	0.501400232315	0.39023	T	0.670408	0.90211	D	-0.30014	0.08646	T	-0.332648	0.41174	T	0.449611186981201	0.30783	T	0.812719	0.46458	T	0.39462492	0.60358	0.24724361	0.50250	0.39462492	0.60359	0.24724361	0.50249	-5.418	0.50325	T	.	.	0.26	0.57104	B	.;.;.;.	.;.;.;.	3.682777	0.52433	23.2	0.98769561458454413	0.45955	0.85236	0.44351	D	AEFGBI	0.447315	0.50301	N	-0.1354472814392	0.35856	2.064908	-0.204295897864463	0.31382	1.775467	0.050506761713773	0.14841	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.564101	0.26826	0	.	.	4.55	1.57	0.22490	4.555000	0.60477	5.427000	0.48582	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.571000	0.30675	0.0754:0.1359:0.6479:0.1408	6.000	0.18744	846	0.36215	Ion transport domain;Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1644.98	38	chr21	44405166	.	G	A	1644.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.846;DP=865;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.28;ReadPosRankSum=0.320;SOR=0.651	GT:AD:DP:GQ:PL	0/1:90,70:160:99:1659,0,2157	20	0	1	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	1|1:0,118,0:118:99:1|1:44558616_T_G:5218,355,0,5218,355,5218:44558616	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	1|1:0,114,0:114:99:1|1:44558616_T_G:5087,343,0,5087,343,5087:44558616	0	17	3	0
chr21	44612740	44612740	C	T	exonic	KRTAP10-8	.	nonsynonymous SNV	KRTAP10-8:NM_198695:exon1:c.C640T:p.R214C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.995	D	0.684	P	.	.	0.997	D	2.765	M	4.84	T	-1.033	T	0.016	T	0.304	0.259	5.398	1.75	0.158	-0.671	8.188	0.118	0.00462483315772	.	.	3.296e-05	0	8.642e-05	0.0001	0	0	0	0.0001	2.59e-05	4	154602	rs868978411	3.01e-05	3.01e-05	2.451e-05	3.576e-05	8.117e-05	2.282e-05	2.032e-05	3.766e-05	2.662e-05	0	4.472e-05	0	0	0	0	3.058e-05	1.656e-05	8.117e-05	1.972e-05	1.969e-05	0	4.035e-05	0.0004	5.24e-06	2.45e-06	7.301e-05	3.033e-05	2.41e-05	0	0	0	0	0	0	0	0	0.0004	0.004	0.65419	D	0.001	0.83351	D	0.995	0.67487	D	0.684	0.53582	P	.	.	.	.	0.996501	0.43243	D	3.02	0.86243	M	4.84	0.01481	T	-6.77	0.92782	D	0.144	0.14480	-1.0331	0.19459	T	0.016	0.06425	T	9	0.20504859	0.36718	T	0.004625	0.11440	T	0.118	0.32913	.	.	0.440498838766	0.43668	0.08217597657910593	0.08152	0.0830062080029	0.09363	0.203444182873	0.00563	T	0.151274	0.49114	T	-0.393122	0.02568	T	-0.565801	0.15836	T	0.28184910003139	0.24249	T	0.261074	0.04204	T	0.12934375	0.30213	0.13517018	0.32371	0.12934375	0.30213	0.13517018	0.32370	-8.661	0.65491	D	.	.	0.117	0.23814	B	.	.	1.316438	0.17203	13.02	0.92062190700576985	0.21407	0.13465	0.17871	N	AEFDBI	0.076500	0.15390	N	-0.307356531089214	0.28868	1.595926	-0.519670674703271	0.21620	1.170406	0.0951423773569989	0.16221	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.65	1.75	0.23707	-1.704000	0.01999	-6.868000	0.01286	-1.304000	0.01241	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1776:0.6506:0.1718:0.0	8.188	0.30513	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3089.98	36	chr21	44612740	.	C	T	3089.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.43;DP=1144;ExcessHet=0.0000;FS=3.958;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.37;ReadPosRankSum=-7.000e-01;SOR=0.960	GT:AD:DP:GQ:PL	0/1:106,109:215:99:3104,0,2640	20	0	1	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	0/2:171,0,155:338:99:5997,6479,13996,0,7143,6558	3	1	0	1
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	1/1:0,140:140:99:.:.:4121,420,0	3	11	7	0
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S,	.	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	738.84	17	chr22	21216084	.	C	T	738.84	.	AC=9;AF=0.250;AN=36;BaseQRankSum=2.32;DP=347;ExcessHet=5.0238;FS=1.528;InbreedingCoeff=-0.3403;MLEAC=10;MLEAF=0.278;MQ=43.88;MQRankSum=-1.754e+00;QD=5.43;ReadPosRankSum=0.080;SOR=0.771	GT:AD:DP:GQ:PL	0/1:8,3:11:95:95,0,185	9	0	9	3
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	0/1:85,13:98:99:290,0,3503	5	0	16	0
chr22	23764319	23764319	G	A	exonic	C22orf15	.	nonsynonymous SNV	C22orf15:NM_001331041:exon3:c.G172A:p.E58K	.	.	414	1106	0	2	0	4	0.00180505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.996	D	0.986	D	.	.	1.000	N	2.125	M	0.98	T	-0.972	T	0.198	T	0.288	2.071	12.88	1.33	0.751	2.900	4.938	0.143	0.0221539628169	0.0015	0.00259585	0.0011	0.0052	0.0025	0	0	0.0012	0.0044	0	0.0004528	70	154602	rs143257161	0.0008	0.0008	0.0008	0.0008	0.0065	0.0007	0.0007	0.0048	0.0043	0.0018	0.0026	0.0006	0	0	0.0065	0.0007	0.0017	0	0.0016	0.0016	0.0016	0.0017	0.0050	0.0015	0.0014	0.0041	0.0037	0.0021	0	0.0050	0.0009	0	0	0.0136	0.0011	0.0019	0	0.024	0.91255	D	0.073	0.44905	T	0.988	0.62325	D	0.986	0.76916	D	.	.	.	.	1	0.08975	N	1.495	0.37439	L	0.98	0.42122	T	-1.79	0.49352	N	0.304	0.36148	-0.9718	0.36819	T	0.198	0.55386	T	9	0.007022232	0.00160	T	0.022154	0.45019	T	0.143	0.38195	.	.	0.472425863764	0.46869	0.27163925959978125	0.27076	0.314744633983	0.33755	.	.	.	0.014317	0.12210	T	-0.36039	0.04108	T	-0.292558	0.45506	T	0.0825853010575819	0.10315	T	0.654835	0.26514	T	0.15943135	0.35815	0.2091696	0.45250	0.15943135	0.35814	0.2091696	0.45249	-3.849	0.21538	T	.	.	0.097	0.21049	B	.;.;.	.;.;.	2.833927	0.37365	20.5	0.99799722751502729	0.88461	0.51720	0.28962	D	AEFBCI	0.138479	0.25979	N	0.0794739122981202	0.45506	2.805967	-0.132799806023403	0.34077	1.956202	0.999993815517202	0.74766	0.0	0.00013	3	0.405561	0.06353	1	0.584781	0.30282	0	0.631631	0.49550	0	.	.	3.45	1.33	0.20958	3.117000	0.50099	1.709000	0.28183	0.670000	0.69193	0.712000	0.28742	0.889000	0.27805	0.150000	0.20306	0.2821:0.0:0.7179:0.0	4.938	0.13299	976	0.04745	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1228.98	50	chr22	23764319	.	G	A	1228.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.548;DP=928;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=0.776;SOR=0.631	GT:AD:DP:GQ:PL	0/1:64,48:112:99:1243,0,1631	20	0	1	0
chr22	28001493	28001493	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon15:c.G4279C:p.G1427R,	.	.	409	1095	17	1	0	19	0.00860118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.985	D	0.893	P	0.000	D	1.000	D	1.885	L	-2.62	D	0.680	D	0.786	D	0.956	4.714	26.2	4.34	2.363	7.587	16.714	0.871	.	.	0.00319489	0.0056	0	0.0025	0	0	0.0002	0.0053	0.0134	0.000912	141	154602	rs548381923	0.0010	0.0009	0.0006	0.0013	0.0124	0.0009	0.0009	0.0117	0.0115	6.33e-05	8.402e-05	0.0001	2.798e-05	2.038e-05	0.0032	0.0003	0.0012	0.0124	0.0005	0.0005	0.0004	0.0006	0.0114	0.0004	0.0004	0.0090	0.0081	4.808e-05	0	0	0	0	9.409e-05	0	0.0002	0.0005	0.0114	0.119	0.28026	T	0.03	0.56192	D	0.985	0.61118	D	0.893	0.63340	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.075	0.57047	M	-2.62	0.90017	D	-4.04	0.74427	D	0.984	0.99337	0.680	0.92921	D	0.786	0.92740	D	10	0.012106806	0.00261	T	.	.	.	0.871	0.96133	0.579	0.70476	0.893121855094	0.89206	0.8804272369799208	0.88010	.	.	0.823987305164	0.85639	D	0.10844	0.42147	T	0.0845185	0.62564	D	0.360305	0.90714	D	0.0959760441227159	0.11908	T	0.976702	0.91916	D	0.46401715	0.64921	0.3672549	0.62039	0.46401715	0.64921	0.3672549	0.62039	-6.177	0.47736	T	.	.	0.728	0.78157	P	.;.	.;.	4.692695	0.75215	26.3	0.99933938484102713	0.99535	0.98188	0.80368	D	AEFDGBI	0.912554	0.87335	D	0.672589447904603	0.77838	6.752207	0.642602020378295	0.78063	6.801034	0.999999999998848	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.34	4.34	0.51267	7.650000	0.82668	7.661000	0.64234	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	16.714	0.85253	958	0.09170	CHAT domain;CHAT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1024.98	39	chr22	28001493	.	C	G	1024.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=-1.263e+00;SOR=0.747	GT:AD:DP:GQ:PL	0/1:59,40:99:99:1039,0,1532	20	0	1	0
chr22	30538899	30538899	G	A	exonic	SEC14L6	.	nonsynonymous SNV	SEC14L6:NM_001193336:exon2:c.C58T:p.R20W,	.	.	431	1064	26	1	0	28	0.012987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	D	3.485	M	-2.33	D	0.314	D	0.699	D	0.398	3.282	17.02	0.844	-0.080	2.330	6.911	0.421	.	.	0.00279553	0.0073	0.0010	0.0021	0	0.0252	0.0062	0.0081	0.0078	0.0002305	6	26028	rs9608973	0.0051	0.0051	0.0050	0.0052	0.0211	0.0050	0.0050	0.0180	0.0169	0.0007	0.0025	0.0053	8.366e-05	0.0206	0.0211	0.0045	0.0050	0.0077	0.0049	0.0049	0.0043	0.0055	0.0060	0.0046	0.0045	0.0052	0.0050	0.0010	0	0.0022	0.0060	0.0002	0.0212	0.0170	0.0056	0.0038	0.0060	0.0	0.91255	D	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	0.99669	0.43358	D	4.245	0.98026	H	-2.33	0.87910	D	-5.68	0.87223	D	0.342	0.38335	0.314	0.87775	D	0.699	0.89624	D	7	0.008291423	0.00188	T	.	.	.	0.421	0.73005	.	.	0.914993449436	0.91413	0.8568166193691308	0.85644	0.0275583687716	0.02819	0.291940420866	0.09204	T	0.340345	0.70938	T	-0.214602	0.18737	T	-0.0730754	0.65406	T	0.129227198938751	0.15310	T	0.915608	0.69895	D	0.11142177	0.26330	0.13525529	0.32390	0.11142177	0.26330	0.13525529	0.32389	-11.409	0.81853	D	.	.	0.179	0.39029	B	.	.	2.048454	0.26042	16.98	0.99846715317920354	0.92663	0.74829	0.36616	D	AEFDBI	0.328558	0.42918	N	-0.127875198169098	0.36181	2.08796	-0.331579613762432	0.27085	1.500486	0.298767655284456	0.19166	0.646311	0.45356	0	0.563428	0.19063	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.33	0.844	0.18083	2.404000	0.44192	-0.340000	0.09823	0.618000	0.50648	0.929000	0.32243	0.000000	0.08366	0.007000	0.07825	0.1088:0.0:0.725:0.1662	6.911	0.23515	340	0.86005	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	4259.68	91	chr22	30538899	.	G	A	4259.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.590e-01;DP=1745;ExcessHet=0.3300;FS=0.845;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=0.688;SOR=0.622	GT:AD:DP:GQ:PL	0/1:71,55:126:99:1356,0,1973	18	0	3	0
chr22	30933500	30933500	T	G	exonic	MORC2	.	nonsynonymous SNV	MORC2:NM_001303256:exon21:c.A2346C:p.E782D	Charcot-Marie-Tooth disease, axonal, type 2Z, Autosomal dominant	.	429	1089	4	0	0	4	0.00183318	.	.	649383	Charcot-Marie-Tooth_disease_axonal_type_2Z|Inborn_genetic_diseases	MONDO:MONDO:0014736,MedGen:C5569025,OMIM:616688,Orphanet:466768|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.58	T	0.024	B	0.012	B	0.004	N	1.000	D	1.555	L	2.6	T	-1.055	T	0.028	T	0.316	2.943	15.81	3.7	0.463	-0.024	8.694	0.046	0.00314179953852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.25055	T	0.495	0.11621	T	0.024	0.19075	B	0.012	0.16012	B	0.004077	0.34148	N	0.344652	0.998818	0.45492	D	1.75	0.45442	L	2.6	0.13204	T	-0.35	0.14782	N	0.32	0.36043	-1.0551	0.13013	T	0.028	0.12190	T	10	0.11469221	0.21587	T	0.003142	0.06845	T	0.046	0.12618	0.201	0.11522	0.378526890672	0.37469	0.13906440913875592	0.13829	0.137095995171	0.15461	0.437963426113	0.30299	T	0.069578	0.33743	T	-0.206404	0.19887	T	-0.534262	0.18863	T	0.19773733559954	0.20291	T	0.866213	0.56644	D	0.055444773	0.10775	0.06391983	0.12733	0.055444773	0.10774	0.06391983	0.12733	-4.204	0.26809	T	0.15147691267400054	0.17873	0.103	0.18414	B	.;.	.;.	3.008413	0.40220	21.1	0.9929986310586657	0.58577	0.79466	0.39382	D	AEFBCI	0.160334	0.28625	N	-0.362434447192939	0.26818	1.466577	-0.206571523129258	0.31300	1.770049	0.0157220698928554	0.12748	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.81	3.7	0.41607	-0.021000	0.12445	0.072000	0.14274	0.665000	0.62972	0.982000	0.35529	0.974000	0.29927	0.982000	0.59238	0.0:0.1502:0.0:0.8498	8.694	0.33446	641	0.64016	.;.	.	.	.	.	.	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	898.98	33	chr22	30933500	.	T	G	898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.309e+00;DP=800;ExcessHet=0.0000;FS=2.697;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.36;ReadPosRankSum=-5.130e-01;SOR=0.784	GT:AD:DP:GQ:PL	0/1:54,42:96:99:913,0,1566	20	0	1	0
chr22	36265782	36265782	G	T	exonic	APOL1	.	stopgain	APOL1:NM_001136541:exon5:c.G892T:p.E298X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	.	.	.	.	0.618	N	1.000	D	.	.	.	.	.	.	.	.	.	3.773	19.16	-2.28	-0.449	-1.035	3.413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617745	0.05738	N	1.200530	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.79	0.78737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299787	0.82950	D	0.192847	0.82730	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant;.	.;.;.;High;.	5.111238	0.85445	28.6	0.94747486642744438	0.25445	0.01550	0.05082	N	AEFDBI	0.051060	0.08984	N	-0.28464942149091	0.29742	1.651984	-0.709861734847565	0.16715	0.8855342	0.64071294737418	0.22051	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	-2.28	0.06438	-1.743000	0.01933	-20.000000	0.00162	-0.266000	0.06809	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4028:0.0:0.402:0.1951	3.413	0.06937	489	0.76795	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1905	3603.9	128	chr22	36265782	.	G	T	3603.9	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-2.811e+00;DP=3016;ExcessHet=3.5521;FS=129.024;InbreedingCoeff=-0.2353;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=2.90;ReadPosRankSum=0.599;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,31:168:91:0|1:36265782_G_T:91,0,3744:36265782	13	0	8	0
chr22	37510307	37510307	-	CTCCTT	exonic	CARD10	.	nonframeshift insertion	CARD10:NM_014550:exon4:c.813_814insAAGGAG:p.E273_P274insKE,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	16961.64	74	chr22	37510301	.	GCTCCTT	G,GCTCCTTCTCCTT	16961.64	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=-1.560e-01;DP=1329;ExcessHet=0.2067;FS=0.550;InbreedingCoeff=0.2125;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=27.36;ReadPosRankSum=0.379;SOR=0.644	GT:AD:DP:GQ:PL	0/1:32,55,0:87:99:2215,0,1177,2311,1344,3655	13	1	6	0
chr22	42556563	42556563	C	T	exonic	SERHL2	.	nonsynonymous SNV	SERHL2:NM_001284334:exon4:c.C206T:p.T69M	.	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.404	B	0.08	B	0.286	N	1.000	N	1.485	L	-0.33	T	-0.981	T	0.159	T	0.417	1.830	12.08	2.08	0.884	1.036	3.632	0.198	.	0.0009	.	0.0028	0.0002	0.0016	0.0002	0	0.0011	0.0022	0.0149	0.0022639	350	154602	rs138994162	0.0012	0.0015	0.0010	0.0014	0.0082	0.0012	0.0012	0.0077	0.0075	0.0003	0.0014	0.0033	0.0001	0	0.0016	0.0007	0.0017	0.0082	0.0008	0.0009	0.0006	0.0011	0.0091	0.0007	0.0007	0.0069	0.0061	7.258e-05	0	0.0006	0.0044	0	0	0	0.0008	0.0005	0.0091	0.048	0.42783	D	0.078	0.47828	T	0.191	0.29470	B	0.08	0.28873	B	0.286036	0.14856	N	0.674587	1	0.08975	N	.	.	.	-0.33	0.68329	T	-1.9	0.50012	N	0.169	0.21449	-0.9814	0.34678	T	0.159	0.49313	T	10	0.0051770806	0.00113	T	.	.	.	0.198	0.48105	.	.	0.411531665326	0.40769	0.6804990556788537	0.67988	1.16575227399	0.79615	0.281120538712	0.07648	T	0.013722	0.11817	T	-0.38328	0.02971	T	-0.31594	0.43019	T	0.00802689277242401	0.00095	T	0.822518	0.48813	T	0.020715497	0.00640	0.045029864	0.05968	0.020715497	0.00640	0.045029864	0.05967	-7.259	0.55903	T	.	.	0.152	0.34383	B	.;.;.;.	.;.;.;.	2.160353	0.27526	17.49	0.99585961244755994	0.73277	0.07144	0.13169	N	AEFGI	0.060756	0.11569	N	-0.883607810607181	0.11232	0.5409406	-0.970336476334684	0.10455	0.5266819	0.305673957486034	0.19235	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	3.1	2.08	0.26079	0.655000	0.24618	1.492000	0.26896	-0.182000	0.10109	0.000000	0.06391	0.002000	0.18203	0.000000	0.00833	0.1656:0.5716:0.1618:0.101	3.632	0.07678	255	0.89985	Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	799.98	36	chr22	42556563	.	C	T	799.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.290e-01;DP=904;ExcessHet=0.0000;FS=3.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.58;MQRankSum=2.23;QD=6.72;ReadPosRankSum=-2.960e-01;SOR=1.075	GT:AD:DP:GQ:PL	0/1:78,41:119:99:814,0,1883	20	0	1	0
chr22	44189126	44189126	C	T	exonic	PARVG	.	nonsynonymous SNV	PARVG:NM_001137605:exon6:c.C260T:p.A87V	.	.	423	1083	16	0	0	16	0.00733272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.894	P	0.246	B	0.039	N	1.000	N	0.69	N	-3.58	D	-0.112	T	0.604	D	0.176	2.231	13.42	-0.33	0.069	0.319	10.854	0.288	.	0.0005	0.00259585	0.0027	0.0005	0.0003	0.0001	0	0.0005	0.0034	0.0167	0.0022509	348	154602	rs138075453	0.0015	0.0015	0.0010	0.0020	0.0181	0.0014	0.0014	0.0174	0.0170	8.961e-05	6.708e-05	0	2.519e-05	0.0002	0.0031	0.0004	0.0013	0.0181	0.0009	0.0009	0.0007	0.0011	0.0137	0.0008	0.0007	0.0110	0.0101	0.0002	0	6.532e-05	0	0	9.413e-05	0.0034	0.0008	0	0.0137	0.002	0.72154	D	0.048	0.48594	D	0.894	0.49185	P	0.246	0.38861	B	0.038551	0.24273	N	0.404315	1	0.08975	N	1.39	0.34934	L	-3.58	0.94940	D	-2.39	0.52612	N	0.17	0.26957	-0.1117	0.79828	T	0.604	0.85949	D	10	0.004735917	0.00100	T	.	.	.	0.288	0.60691	.	.	0.879880329404	0.87870	0.20534219464514428	0.20451	0.156801814406	0.17703	0.262609064579	0.05205	T	0.603003	0.87304	D	-0.302316	0.08443	T	-0.192752	0.55332	T	0.027003722770828	0.01544	T	0.716728	0.32905	T	0.12633264	0.29593	0.15091646	0.35572	0.12633264	0.29593	0.15091646	0.35571	-6.781	0.52418	T	.	.	0.120	0.25100	B	.;.;.	.;.;.	2.612734	0.33937	19.49	0.98838391747539256	0.47085	0.05575	0.11475	N	AEFDBHCI	0.134812	0.25494	N	-0.537411678019612	0.20879	1.104028	-0.644544555650668	0.18354	0.9801407	0.99999881027357	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.86	-0.33	0.12054	0.334000	0.19529	0.959000	0.22978	0.599000	0.40250	0.001000	0.13787	0.375000	0.24588	0.338000	0.25386	0.1204:0.2315:0.6481:0.0	10.854	0.45995	844	0.36711	Calponin homology domain|Calponin homology domain;Calponin homology domain|Calponin homology domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1194.98	34	chr22	44189126	.	C	T	1194.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.910;DP=800;ExcessHet=0.0000;FS=3.619;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=0.109;SOR=0.959	GT:AD:DP:GQ:PL	0/1:56,49:105:99:1209,0,1316	20	0	1	0
chr22	46256619	46256619	T	A	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.A6704T:p.Y2235F,	.	.	426	1072	23	1	0	25	0.011526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.125	B	0.028	B	0.298	N	1.000	N	0.255	N	1.31	T	-1.014	T	0.044	T	0.184	0.653	7.502	3.38	0.445	0.448	9.029	0.033	0.00352748671931	0.0022	0.00139776	0.0027	0.0009	0.0034	0	0.0026	0.0037	0.0055	0.0010	0.0025808	399	154602	rs145208153	0.0027	0.0027	0.0027	0.0028	0.0194	0.0026	0.0026	0.0165	0.0154	0.0013	0.0029	0.0013	0	0.0018	0.0194	0.0030	0.0032	0.0008	0.0025	0.0025	0.0024	0.0026	0.0037	0.0023	0.0022	0.0033	0.0032	0.0005	0.0044	0.0031	0.0017	0.0002	0.0025	0.0340	0.0037	0.0033	0.0006	0.363	0.11807	T	0.419	0.14158	T	0.125	0.26866	B	0.028	0.21332	B	0.297716	0.14654	N	0.651748	1	0.08975	N	1.29	0.32370	L	1.31	0.35405	T	-1.11	0.28703	N	0.097	0.07811	-1.0135	0.25816	T	0.044	0.19070	T	10	0.007076353	0.00161	T	0.003527	0.08031	T	0.033	0.08068	.	.	0.0954503805726	0.09146	0.21857502953955749	0.21773	.	.	0.386549502611	0.23182	T	0.20371	0.56227	T	-0.5695	0.00223	T	-0.58849	0.13797	T	0.00456023149037528	0.00049	T	0.646135	0.25753	T	0.06590596	0.14131	0.057479482	0.10455	0.06590596	0.14131	0.057479482	0.10454	-3.199	0.12468	T	.	.	0.100	0.17060	B	.	.	0.686749	0.10553	7.262	0.79649003285067921	0.12837	0.09470	0.15218	N	ALL	0.059044	0.11122	N	-1.05196031419686	0.07549	0.3510676	-0.975477687017799	0.10337	0.5200256	0.999999860432101	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	5.56	3.38	0.37806	0.503000	0.22318	0.760000	0.21307	-0.847000	0.02749	0.006000	0.17386	0.009000	0.19889	0.319000	0.24947	0.3047:0.0:0.0:0.6953	9.029	0.35407	928	0.17405	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4966.11	35	chr22	46256619	.	T	A	4966.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.30;DP=1128;ExcessHet=0.1072;FS=4.063;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=1.14;SOR=0.457	GT:AD:DP:GQ:PL	0/1:100,99:199:99:2685,0,2556	19	0	2	0
chr22	50487705	50487705	T	C	exonic	MIOX	.	nonsynonymous SNV	MIOX:NM_017584:exon3:c.T140C:p.M47T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	1.0	D	0.000	D	1.000	D	2.675	M	.	.	-0.161	T	0.429	T	0.835	3.693	18.76	4.38	1.819	7.331	11.581	0.381	0.0615648066977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	2.723e-06	2.751e-06	1.159e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.35537	T	0.005	0.72224	D	1.0	0.90584	D	0.987	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.92	0.84325	M	.	.	.	-5.45	0.85921	D	0.707	0.91391	-0.1609	0.78648	T	0.429	0.77134	T	9	0.78939784	0.78528	D	0.061565	0.68372	D	0.381	0.69863	0.639	0.77579	0.163833314356	0.15978	0.7740331886888138	0.77353	0.374716141167	0.38933	0.716704249382	0.69567	T	0.350612	0.71831	T	0.311291	0.83841	D	0.209372	0.83631	D	0.996178865432739	0.88812	D	0.922808	0.77472	D	0.5296551	0.68811	0.5893773	0.76178	0.5296551	0.68812	0.5893773	0.76179	-1.677	0.68849	T	.	.	0.994	0.94938	P	.;.;.;.	.;.;.;.	4.858446	0.79476	27.1	0.98662610176276078	0.44358	0.99158	0.92083	D	AEFDBI	0.871896	0.79351	D	0.706910253518293	0.80085	7.216951	0.63502404553729	0.77499	6.691334	0.999999999667572	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.38	4.38	0.52019	7.396000	0.79154	7.698000	0.66136	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	11.581	0.50145	794	0.45591	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2335.98	35	chr22	50487705	.	T	C	2335.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.109e+00;DP=1019;ExcessHet=0.0000;FS=1.085;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=0.214;SOR=0.584	GT:AD:DP:GQ:PL	0/1:111,97:208:99:2350,0,2963	20	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	0/1:181,206,0,0:387:99:.:.:5859,0,3895,5209,4741,10781,5209,4741,10781,10781	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	0/1:181,206,0,0:387:99:.:.:5859,0,3895,5209,4741,10781,5209,4741,10781,10781	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	0/1:66,50:116:99:.:.:1529,0,2620	18	0	3	0
chrX	25013663	25013665	GCC	-	exonic	ARX	.	nonframeshift deletion	ARX:NM_139058:exon2:c.330_332del:p.A115del,	Epileptic encephalopathy, early infantile, 1, X-linked recessive;Hydranencephaly with abnormal genitalia, X-linked;Lissencephaly, X-linked 2, X-linked;Mental retardation, X-linked 29 and others, X-linked recessive;Partington syndrome, X-linked recessive;Proud syndrome, X-linked	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	244.17	2	chrX	25013659	.	TGCCGCC	TGCC,T	244.17	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=1.92;DP=135;ExcessHet=0.0000;FS=5.119;InbreedingCoeff=0.2734;MLEAC=1,2;MLEAF=0.025,0.050;MQ=60.00;MQRankSum=0.00;QD=15.26;ReadPosRankSum=0.023;SOR=2.252	GT:AD:DP:GQ:PL	0/1:9,2,0:11:56:56,0,364,83,370,453	18	0	1	1
chrX	25013660	25013665	GCCGCC	-	exonic	ARX	.	nonframeshift deletion	ARX:NM_139058:exon2:c.330_335del:p.A114_A115del,	Epileptic encephalopathy, early infantile, 1, X-linked recessive;Hydranencephaly with abnormal genitalia, X-linked;Lissencephaly, X-linked 2, X-linked;Mental retardation, X-linked 29 and others, X-linked recessive;Partington syndrome, X-linked recessive;Proud syndrome, X-linked	.	.	.	.	.	.	.	.	.	.	167602	Developmental_and_epileptic_encephalopathy,_1|Intellectual_disability,_X-linked,_with_or_without_seizures,_arx-related|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419,Orphanet:777|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs587783197	0.0002	0.0001	0.0002	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	0.0002	0.0007	0	0.0009	0.0004	0.0008	0.0001	0.0002	7.762e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	9.754e-05	0.0001	0.0001	0.0001	0	9.695e-05	0	0.0006	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	244.17	2	chrX	25013659	.	TGCCGCC	TGCC,T	244.17	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=1.92;DP=135;ExcessHet=0.0000;FS=5.119;InbreedingCoeff=0.2734;MLEAC=1,2;MLEAF=0.025,0.050;MQ=60.00;MQRankSum=0.00;QD=15.26;ReadPosRankSum=0.023;SOR=2.252	GT:AD:DP:GQ:PL	0/1:9,2,0:11:56:56,0,364,83,370,453	18	0	1	1
chrX	26194093	26194218	GATGTGGCTGCCAACGGCCAAGATGAGAAAAGTCCAAGCACCTCCCGTGATGCCTCCGTTCCTCAGGAGTCTCAGGGAGCTTCACCCACTGGCTCTCCTGATGCAGGTGTTTCAGGCTCAAAATAT	-	exonic	MAGEB6	.	nonframeshift deletion	MAGEB6:NM_173523:exon2:c.247_372del:p.R98_S139del,	.	.	439	1066	11	5	1	22	0.00975383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0016	0.0003	0.0002	0.0002	0.0002	0	0.0005	.	.	.	.	0.0007	0.0008	0.0007	0.0008	0.0009	0.0007	0.0007	0.0007	0.0007	0.0009	0.0005	0.0006	0.0008	0.0005	0.0005	0.0008	0.0008	0.0008	0.0002	0.0002	0.0002	3.077e-05	0.0004	0.0001	8.708e-05	0.0002	0.0002	0.0004	0	0	0	0	0.0003	0	9.498e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1269.07	38	chrX	26194092	.	CGATGTGGCTGCCAACGGCCAAGATGAGAAAAGTCCAAGCACCTCCCGTGATGCCTCCGTTCCTCAGGAGTCTCAGGGAGCTTCACCCACTGGCTCTCCTGATGCAGGTGTTTCAGGCTCAAAATAT	C	1269.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.51;DP=1174;ExcessHet=0.1072;FS=0.563;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.68;MQRankSum=-1.737e+00;QD=2.56;ReadPosRankSum=-2.483e+00;SOR=0.630	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,114:335:99:0|1:26194092_CGATGTGGCTGCCAACGGCCAAGATGAGAAAAGTCCAAGCACCTCCCGTGATGCCTCCGTTCCTCAGGAGTCTCAGGGAGCTTCACCCACTGGCTCTCCTGATGCAGGTGTTTCAGGCTCAAAATAT_C:926,0,8849:26194092	19	0	2	0
chrX	26194125	26194125	T	0	exonic	MAGEB6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2574.15	38	chrX	26194125	.	T	G,*	2574.15	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=2.38;DP=1363;ExcessHet=0.3300;FS=1.142;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=3.62;ReadPosRankSum=-3.100e-02;SOR=0.763	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:221,0,114:335:99:0|1:26194092_CGATGTGGCTGCCAACGGCCAAGATGAGAAAAGTCCAAGCACCTCCCGTGATGCCTCCGTTCCTCAGGAGTCTCAGGGAGCTTCACCCACTGGCTCTCCTGATGCAGGTGTTTCAGGCTCAAAATAT_C:926,1590,10637,0,9047,8849:26194092	18	0	1	0
chrX	27747292	27747300	GAGGAGGAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.397_405del:p.E145_E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/2:0,20,27,0,0,0,0:47:99:1913,1069,1019,767,0,663,1881,1078,760,1870,1881,1078,760,1870,1870,1881,1078,760,1870,1870,1870,1881,1078,760,1870,1870,1870,1870	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	1/2:0,20,27,0,0,0,0:47:99:1913,1069,1019,767,0,663,1881,1078,760,1870,1881,1078,760,1870,1870,1881,1078,760,1870,1870,1870,1881,1078,760,1870,1870,1870,1870	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	1/2:0,20,27,0,0,0,0:47:99:1913,1069,1019,767,0,663,1881,1078,760,1870,1881,1078,760,1870,1870,1881,1078,760,1870,1870,1870,1881,1078,760,1870,1870,1870,1870	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	1/2:0,20,27,0,0,0,0:47:99:1913,1069,1019,767,0,663,1881,1078,760,1870,1881,1078,760,1870,1870,1881,1078,760,1870,1870,1870,1881,1078,760,1870,1870,1870,1870	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	1/2:0,20,27,0,0,0,0:47:99:1913,1069,1019,767,0,663,1881,1078,760,1870,1881,1078,760,1870,1870,1881,1078,760,1870,1870,1870,1881,1078,760,1870,1870,1870,1870	7	4	1	0
chrX	38160034	38160034	G	A	exonic	SRPX	.	nonsynonymous SNV	SRPX:NM_001170750:exon6:c.C878T:p.T293M	.	.	.	.	.	.	.	.	.	.	.	2821479	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.17	T	0.94	P	0.404	B	0.000	D	0.970	D	1.67	L	-0.15	T	-0.861	T	0.179	T	0.142	2.099	12.97	3.91	0.559	3.388	5.892	0.110	0.035262844596	.	0.000264901	0.0002	0.0001	0	0	0	0.0003	0	0.0003	0.0001617	25	154602	rs750284952	0.0001	0.0001	0.0001	0.0001	0.0005	8.884e-05	8.325e-05	9.543e-05	8.868e-05	7.58e-05	0	0	0	9.897e-05	0.0005	0.0001	8.688e-05	0.0001	0.0001	0.0001	0.0001	0.0001	0.0003	8.178e-05	6.62e-05	8.424e-05	5.74e-05	0.0002	0	9.342e-05	0	0.0003	0	0	0.0001	0	0	0.03	0.45393	D	0.108	0.37730	T	0.672	0.41203	P	0.122	0.32387	B	0.000410	0.44736	D	0.252992	0.970369	0.38793	D	2.075	0.57047	M	-0.15	0.65192	T	-1.92	0.47344	N	0.144	0.15187	-0.8613	0.51169	T	0.179	0.52551	T	10	0.11757299	0.22206	T	0.035263	0.56231	D	0.110	0.31079	.	.	0.945923092352	0.94536	0.38006763395698034	0.37921	0.0358619067927	0.03783	0.447488844395	0.31601	T	0.309798	0.68180	T	-0.403356	0.02201	T	-0.51961	0.20333	T	0.0525087080895901	0.05935	T	0.849315	0.63379	T	0.068085454	0.14802	0.1630054	0.37836	0.068085454	0.14802	0.1630054	0.37835	-7.414	0.59623	T	0.18955545218654712	0.24800	0.073	0.05188	B	.;.;.;.	.;.;.;.	3.129936	0.42292	21.5	0.99302167765994109	0.58686	0.80588	0.40186	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.964256295362953	0.28747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.68	3.91	0.44383	4.110000	0.57570	3.964000	0.40771	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.2162:0.1503:0.6335:0.0	5.892	0.18161	484	0.77165	.;.;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	820.98	36	chrX	38160034	.	G	A	820.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.09;DP=728;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=-1.845e+00;SOR=0.703	GT:AD:DP:GQ:PL	0/1:39,31:70:99:835,0,905	20	0	1	0
chrX	45069832	45069832	C	T	exonic	KDM6A	.	nonsynonymous SNV	KDM6A:NM_001291418:exon15:c.C1940T:p.T647M	Kabuki syndrome 2, X-linked dominant	.	1	1240	187	92	2	373	0.13013	.	.	380059	not_specified|Kabuki_syndrome_2|not_provided	MedGen:CN169374|MONDO:MONDO:0010465,MedGen:C3275495,OMIM:300867,Orphanet:2322|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.646	P	0.097	B	0.209	N	1.000	P	0	N	0.76	T	-1.067	T	0.055	T	0.202	0.353	5.916	-2.48	-0.616	-0.793	15.541	0.062	0.153986145614	.	.	0.0002	0	0.0006	0	0	0.0002	0	0.0002	0.0001423	22	154602	rs2230018	0.0003	0.0003	0.0002	0.0003	0.0012	0.0002	0.0002	0.0005	0.0003	0	0.0003	5.159e-05	9.944e-05	0	0.0012	0.0003	0.0003	0.0005	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	0.0001	0.0002	0.0002	3.259e-05	0	9.522e-05	0	0	0	0	0.0003	0.0007	0.0008	0.139	0.25768	T	0.09	0.40267	T	0.646	0.40549	P	0.097	0.30390	B	0.208580	0.16421	N	0.640382	0.999966	0.18878	P	0.345	0.11182	N	0.76	0.49919	T	0.81	0.01839	N	0.052	0.15187	-1.0668	0.10131	T	0.055	0.23110	T	9	0.03868887	0.02304	T	0.153986	0.83517	D	0.062	0.17934	.	.	0.193917141947	0.19028	0.24952797713721842	0.24866	0.11190476299	0.12625	0.237911581993	0.02605	T	0.015006	0.34128	T	-0.617003	0.00115	T	-0.779121	0.02480	T	0.0065993512139926	0.00074	T	0.863414	0.55914	D	0.040850677	0.05909	0.09863973	0.23522	0.053731814	0.10210	0.1197753	0.28907	-5.446	0.41359	T	0.1269424636613506	0.12910	0.068	0.03093	B	.;.;.;.;.	.;.;.;.;.	-1.081137	0.00663	0.018	0.8421640515683424	0.15163	0.07799	0.13795	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999952254868068	0.48110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.82	-2.48	0.06052	-0.985000	0.03861	-4.604000	0.02073	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.943000	0.48514	0.0:0.7711:0.0:0.2289	15.541	0.75790	611	0.66908	.;.;.;.;.	.	.	.	.	.	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	1	0	0.2381	28040.68	33	chrX	45069832	.	C	A,T	28040.68	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=4.41;DP=1938;ExcessHet=0.0097;FS=0.544;InbreedingCoeff=0.4750;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=19.89;ReadPosRankSum=-1.040e-01;SOR=0.755	GT:AD:DP:GQ:PL	0/1:124,167,0:291:99:4636,0,3112,5008,3613,8620	14	3	3	0
chrX	48482730	48482730	G	A	exonic	FTSJ1	.	nonsynonymous SNV	FTSJ1:NM_001282157:exon7:c.G482A:p.S161N	Mental retardation, X-linked 9/44, X-linked recessive	.	.	.	.	.	.	.	.	.	.	581018	FTSJ1-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.002	B	0.827	N	1.000	N	0.205	N	0.97	T	-1.010	T	0.046	T	0.011	0.459	6.493	-1.84	-0.401	0.332	5.252	0.022	0.00207456555213	0.0004	.	0.0003	0	0.0001	0	0	0.0005	0	0	0.0002458	38	154602	rs142932029	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0003	0.0004	0.0004	3.79e-05	0.0001	0.0003	0	2.477e-05	0	0.0005	0.0002	0	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	9.867e-05	0	0	0.0011	0	0	0	0.0005	0	0	0.25	0.17126	T	0.276	0.21947	T	0.0	0.02946	B	0.001	0.06944	B	0.826824	0.09137	N	0.910974	1	0.08975	N	1.445	0.36358	L	0.97	0.42502	T	0.21	0.04776	N	0.081	0.08227	-1.0104	0.26791	T	0.046	0.19760	T	10	0.018801898	0.00413	T	0.002075	0.03801	T	0.022	0.04323	.	.	0.138757226776	0.13463	0.20758847070266126	0.20674	0.619389203254	0.56290	0.374726116657	0.21507	T	0.007163	0.42866	T	-0.783888	0.00010	T	-1.0074	0.00125	T	0.506317734718323	0.32861	D	0.664534	0.27348	T	0.056144916	0.11007	0.08277911	0.18919	0.054299083	0.10398	0.07875405	0.17669	-4.743	0.34133	T	.	.	0.082	0.09675	B	.;.;.	.;.;.	0.433484	0.08038	4.759	0.78814124787974005	0.12464	0.08320	0.14265	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999951584164984	0.48110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.46	-1.84	0.07387	0.363000	0.20037	-0.089000	0.12081	-0.137000	0.12594	0.488000	0.26863	0.000000	0.08366	0.628000	0.32104	0.5809:0.1793:0.2398:0.0	5.252	0.14843	41	0.97903	.;.;.	.	.	.	.	.	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	1805.98	33	chrX	48482730	.	G	A	1805.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.097e+00;DP=844;ExcessHet=0.0000;FS=14.927;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-9.440e-01;SOR=1.051	GT:AD:DP:GQ:PL	0/1:80,66:146:99:1820,0,2376	20	0	1	0
chrX	50310483	50310483	A	G	exonic	CCNB3	.	nonsynonymous SNV	CCNB3:NM_033031:exon6:c.A2314G:p.I772V,	.	.	.	.	.	.	.	.	.	.	.	2680829	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.043	B	0.04	B	.	.	1.000	N	1.61	L	1.32	T	-1.011	T	0.072	T	0.094	0.941	8.837	1.62	0.199	1.272	5.991	0.016	0.00512583156185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.825e-06	1.821e-06	1.362e-06	2.767e-06	2.378e-06	3e-07	1.1e-07	4e-07	1.5e-07	0	0	0	0	0	0	2.378e-06	0	0	8.868e-06	8.699e-06	1.284e-05	0	3.216e-05	0	0	.	.	3.216e-05	0	0	0	0	0	0	0	0	0	0.635	0.05076	T	0.177	0.29740	T	0.043	0.21573	B	0.04	0.23831	B	.	.	.	.	1	0.08975	N	1.525	0.38595	L	1.32	0.35219	T	-0.32	0.12283	N	0.039	0.01274	-1.0112	0.26541	T	0.072	0.29323	T	8	0.062927336	0.08121	T	0.005126	0.13001	T	0.016	0.02506	0.243	0.17677	0.204265027416	0.20035	0.03650998690567417	0.03597	0.129571704271	0.14605	0.272096097469	0.06416	T	0.043586	0.26547	T	-0.452346	0.01094	T	-0.88754	0.00594	T	0.051205674832967	0.05710	T	0.343566	0.07491	T	0.038025994	0.04986	0.045680933	0.06200	0.038025994	0.04986	0.045680933	0.06200	-4.984	0.36666	T	.	.	0.091	0.15475	B	.;.	.;.	-0.589947	0.01599	0.108	0.68891267272984202	0.08799	0.12507	0.17311	N	AEFBI	.	.	.	.	.	.	.	.	.	3.82520300837843E-4	0.06781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.19	1.62	0.22817	0.705000	0.25350	3.433000	0.38328	-0.055000	0.16736	0.000000	0.06391	0.083000	0.22416	0.005000	0.06747	0.5684:0.0:0.0:0.4316	5.991	0.18695	428	0.80967	.;.	.	.	.	.	.	Uncertain significance	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	1488.98	34	chrX	50310483	.	A	G	1488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.446;DP=821;ExcessHet=0.0000;FS=0.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=0.040;SOR=0.772	GT:AD:DP:GQ:PL	0/1:62,56:118:99:1503,0,1633	20	0	1	0
chrX	51496179	51496179	C	G	exonic	NUDT11	.	nonsynonymous SNV	NUDT11:NM_018159:exon1:c.G266C:p.R89P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.012	B	0.025	B	0.000	N	0.855	D	1.64	L	3.15	T	-1.032	T	0.016	T	0.421	1.460	10.83	-1.18	-0.160	4.249	2.949	0.178	0.00656134667829	.	.	1.14e-05	0	0	0	0	2.084e-05	0	0	1.29e-05	2	154602	rs199633559	2.095e-05	3.187e-05	1.361e-05	3.576e-05	7.389e-05	1.395e-05	1.165e-05	2.523e-05	1.461e-05	0	0	0	3.311e-05	0	0	1.9e-05	4.34e-05	7.389e-05	2.684e-05	3.481e-05	3.854e-05	0	3.766e-05	7.13e-06	2.98e-06	6.25e-06	2.34e-06	0	0	0	0.0004	0	0	0	3.766e-05	0	0	0.022	0.48642	D	0.077	0.42436	T	0.012	0.16265	B	0.025	0.20508	B	0.000064	0.52346	N	0.125962	.	.	.	1.755	0.45626	L	3.15	0.07820	T	-5.77	0.87911	D	0.466	0.50237	-1.0321	0.19777	T	0.016	0.06569	T	9	0.1820983	0.33473	T	0.006561	0.17301	T	0.178	0.44724	0.55	0.66576	0.206203607746	0.20212	0.9165891747605692	0.91633	2.13481855974	0.95210	0.792185306549	0.80775	T	0.141615	0.47676	T	-0.247348	0.14427	T	-0.593075	0.13400	T	0.916521906852722	0.57399	D	0.773423	0.40508	T	0.8803464	0.89695	0.8307718	0.90235	0.8803464	0.89696	0.8307718	0.90235	-9.276	0.69456	D	.	.	0.806	0.77569	P	.	.	3.970739	0.58303	24.0	0.9633091023459559	0.29446	0.70842	0.34759	D	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999924540559036	0.46280	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.25	-1.18	0.09122	3.637000	0.54065	1.287000	0.25388	0.469000	0.21855	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.1587:0.4197:0.3106:0.1109	2.949	0.05496	242	0.90534	NUDIX hydrolase domain|NUDIX hydrolase 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	664.98	33	chrX	51496179	.	C	G	664.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.23;DP=879;ExcessHet=0.0000;FS=5.045;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.35;MQRankSum=-9.408e+00;QD=3.50;ReadPosRankSum=-8.830e-01;SOR=0.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,29:190:99:0|1:51496179_C_G:679,0,6568:51496179	20	0	1	0
chrX	55146088	55146088	G	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C347A:p.T116K	.	.	389	931	201	1	0	203	0.0983051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.753	P	0.139	B	.	.	1.000	N	0.55	N	0.55	T	-1.038	T	0.075	T	0.138	0.884	8.588	1.6	1.084	1.636	6.091	0.065	0.0145806555527	.	.	.	.	.	.	.	.	.	.	2.59e-05	4	154602	rs908148278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.003	0.76473	D	0.753	0.43334	P	0.139	0.33484	B	.	.	.	.	1	0.08975	N	.	.	.	0.55	0.54728	T	-4.2	0.75695	D	0.166	0.24883	-1.0379	0.17954	T	0.075	0.30272	T	9	0.13617307	0.25909	T	0.014581	0.34790	T	0.065	0.18881	0.383	0.40134	0.0297737177859	0.01360	0.5893565244531019	0.58865	0.102169319623	0.11567	.	.	.	.	.	.	-0.300639	0.08600	T	-0.669624	0.07632	T	0.278895500268211	0.24125	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	-3.286	0.14829	T	.	.	0.403	0.59716	A	.;.;.	.;.;.	2.694763	0.35184	19.83	0.76654625307924973	0.11555	0.30125	0.24001	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.922000	0.39675	-0.587000	0.08344	0.596000	0.33519	0.989000	0.36753	0.000000	0.08366	0.084000	0.17470	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1542.46	537	chrX	55146088	.	G	T	1542.46	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.180e-01;DP=11450;ExcessHet=0.1072;FS=0.827;InbreedingCoeff=-0.0587;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=-3.310e-01;SOR=0.816	GT:AD:DP:GQ:PL	0/1:676,115:791:99:1280,0,22592	19	0	2	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	0/1:123,686:809:99:22480,0,1266	0	6	15	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N	.	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.003	B	0.001	B	0.171	N	1.000	P	-0.345	N	1.04	T	-1.045	T	0.035	T	0.025	-1.501	0.017	-1.04	-0.355	-0.019	4.225	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	279484.49	466	chrX	55146212	.	C	T	279484.49	.	AC=22;AF=0.524;AN=42;BaseQRankSum=2.82;DP=11864;ExcessHet=43.6797;FS=1.429;InbreedingCoeff=-0.9104;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=25.15;ReadPosRankSum=1.65;SOR=0.530	GT:AD:DP:GQ:PL	0/1:144,440:604:99:13148,0,2456	0	1	20	0
chrX	55146226	55146226	A	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.T209C:p.I70T	.	.	377	953	191	1	0	193	0.0919485	.	.	2292730	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.42	T	0.393	B	0.677	P	0.039	N	1.000	N	0.6	N	0.95	T	-0.952	T	0.090	T	0.133	0.679	7.632	-0.877	-0.346	-0.374	4.189	0.021	0.00406903138937	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs5018687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.10378	T	0.268	0.22694	T	0.393	0.34680	B	0.291	0.53365	B	0.039374	0.24178	N	0.273281	1	0.08975	N	0.64	0.16041	N	0.95	0.43279	T	-0.72	0.25332	N	0.2	0.23506	-0.9521	0.40608	T	0.090	0.34463	T	10	0.055033892	0.05951	T	0.004069	0.09712	T	0.021	0.04004	.	.	0.141422826196	0.13715	0.06275098226723172	0.06214	0.248494845932	0.27412	0.330263495445	0.14974	T	0.020098	0.15887	T	-0.449697	0.01134	T	-0.883735	0.00624	T	0.0690480346428045	0.08518	T	0.637636	0.25136	T	0.03846359	0.05127	0.06403163	0.12771	0.03846359	0.05127	0.06403163	0.12771	-2.966	0.10052	T	.	.	0.086	0.10787	B	.;.;.;.;.	.;.;.;.;.	-0.138938	0.03417	0.621	0.94453687128581543	0.24887	0.00870	0.03447	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988350960953	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.877	0.10083	-0.230000	0.09093	-3.501000	0.02739	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.713000	0.34548	0.5262:0.0:0.4738:0.0	4.189	0.09871	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	0.119	1891.57	399	chrX	55146226	.	A	G	1891.57	.	AC=5;AF=0.119;AN=42;BaseQRankSum=0.994;DP=9340;ExcessHet=1.1607;FS=0.843;InbreedingCoeff=-0.1278;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.94;ReadPosRankSum=-9.600e-02;SOR=0.789	GT:AD:DP:GQ:PL	0/1:494,52:546:71:71,0,17410	16	0	5	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	0/1:128,282:410:99:8814,0,2889	0	1	20	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L	.	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.127	B	0.271	B	0.153	U	1.000	N	1.495	L	0.27	T	-0.863	T	0.155	T	0.217	0.481	6.608	-1.26	-0.432	0.511	4.529	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	145728.82	278	chrX	55146275	.	T	G	145728.82	.	AC=22;AF=0.524;AN=42;BaseQRankSum=-5.160e-01;DP=6743;ExcessHet=43.6797;FS=12.602;InbreedingCoeff=-0.9267;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=23.59;ReadPosRankSum=-3.687e+00;SOR=0.530	GT:AD:DP:GQ:PL	0/1:104,210:314:99:6788,0,2231	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	0/1:230,24:254:68:68,0,8295	5	0	15	1
chrX	66266451	66266451	A	G	exonic	HEPH	.	nonsynonymous SNV	HEPH:NM_001367243:exon16:c.A2356G:p.R786G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.113	B	0.04	B	0.535	N	1.000	N	0	N	-5.59	D	0.733	D	0.852	D	0.351	0.014	4.085	0.976	0.226	0.920	3.141	0.385	0.476193431909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.37536	T	0.342	0.22084	T	0.113	0.26349	B	0.04	0.23831	B	0.535037	0.05280	N	1.277380	1	0.08975	N	1.6	0.40776	L	-5.6	0.99243	D	-0.25	0.23156	N	0.229	0.28028	0.733	0.93583	D	0.852	0.95066	D	10	0.20335755	0.36487	T	0.476193	0.94764	D	0.385	0.70194	0.379	0.39482	0.715838253657	0.71334	0.5571570503578913	0.55642	0.114630433972	0.12926	0.261533021927	0.05074	T	0.092845	0.53179	T	0.115005	0.65868	D	-0.0725801	0.65442	T	0.0409009001301863	0.03854	T	0.627737	0.29211	T	0.08400963	0.19426	0.11256127	0.27161	0.08400963	0.19426	0.11256127	0.27160	-3.239	0.13365	T	.	.	0.063	0.06387	B	.;.;.;.;.	.;.;.;.;.	1.032776	0.14128	10.70	0.89478412191415868	0.18831	0.03387	0.08494	N	AEFBI	.	.	.	.	.	.	.	.	.	1.49475875651209E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.71	0.976	0.18846	1.046000	0.29964	3.906000	0.40380	0.756000	0.94297	0.431000	0.26416	0.972000	0.29809	0.009000	0.08673	0.4885:0.2177:0.2938:0.0	3.141	0.06069	603	0.67726	.;.;.;.;.	.	.	.	.	.	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	1083.98	36	chrX	66266451	.	A	G	1083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.161e+00;DP=796;ExcessHet=0.0000;FS=1.888;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=0.016;SOR=1.034	GT:AD:DP:GQ:PL	0/1:46,46:92:99:1098,0,1188	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	0/5:6,0,0,0,0,4,0:10:99:151,169,421,169,421,421,169,421,421,421,169,421,421,421,421,0,252,252,252,252,239,169,421,421,421,421,252,421	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	0/5:6,0,0,0,0,4,0:10:99:151,169,421,169,421,421,169,421,421,421,169,421,421,421,421,0,252,252,252,252,239,169,421,421,421,421,252,421	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	0/5:6,0,0,0,0,4,0:10:99:151,169,421,169,421,421,169,421,421,421,169,421,421,421,421,0,252,252,252,252,239,169,421,421,421,421,252,421	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	0/5:6,0,0,0,0,4,0:10:99:151,169,421,169,421,421,169,421,421,421,169,421,421,421,421,0,252,252,252,252,239,169,421,421,421,421,252,421	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	0/5:6,0,0,0,0,4,0:10:99:151,169,421,169,421,421,169,421,421,421,169,421,421,421,421,0,252,252,252,252,239,169,421,421,421,421,252,421	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|2:21,0,23,0,0,0,0:44:99:0|1:67546514_TGGCGGCGGCGGC_T:907,970,1842,0,872,799,970,1842,872,1842,970,1842,872,1842,1842,970,1842,872,1842,1842,1842,970,1842,872,1842,1842,1842,1842:67546514	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|2:21,0,23,0,0,0,0:44:99:0|1:67546514_TGGCGGCGGCGGC_T:907,970,1842,0,872,799,970,1842,872,1842,970,1842,872,1842,1842,970,1842,872,1842,1842,1842,970,1842,872,1842,1842,1842,1842:67546514	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|2:21,0,23,0,0,0,0:44:99:0|1:67546514_TGGCGGCGGCGGC_T:907,970,1842,0,872,799,970,1842,872,1842,970,1842,872,1842,1842,970,1842,872,1842,1842,1842,970,1842,872,1842,1842,1842,1842:67546514	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|2:21,0,23,0,0,0,0:44:99:0|1:67546514_TGGCGGCGGCGGC_T:907,970,1842,0,872,799,970,1842,872,1842,970,1842,872,1842,1842,970,1842,872,1842,1842,1842,970,1842,872,1842,1842,1842,1842:67546514	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|2:21,0,23,0,0,0,0:44:99:0|1:67546514_TGGCGGCGGCGGC_T:907,970,1842,0,872,799,970,1842,872,1842,970,1842,872,1842,1842,970,1842,872,1842,1842,1842,970,1842,872,1842,1842,1842,1842:67546514	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|2:21,0,23,0,0,0,0:44:99:0|1:67546514_TGGCGGCGGCGGC_T:907,970,1842,0,872,799,970,1842,872,1842,970,1842,872,1842,1842,970,1842,872,1842,1842,1842,970,1842,872,1842,1842,1842,1842:67546514	11	3	1	0
chrX	70406349	70406349	C	T	exonic	KIF4A	.	nonsynonymous SNV	KIF4A:NM_012310:exon27:c.C3067T:p.P1023S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.978	D	0.719	P	0.000	D	1.000	D	1.935	M	-0.31	T	-0.365	T	0.352	T	0.547	3.418	17.55	4.53	2.088	5.613	15.434	0.320	0.0792615795202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.349	0.17531	T	0.978	0.58756	D	0.719	0.54822	P	0.000079	0.52346	D	0.000000	1	0.81001	D	2.25	0.63811	M	-0.31	0.68030	T	-3.12	0.63782	D	0.263	0.29774	-0.3650	0.73114	T	0.352	0.71596	T	9	0.36185807	0.52795	T	0.079262	0.73194	D	0.320	0.64215	0.321	0.30064	0.75829552308	0.75610	0.38851705871746006	0.38766	1.0674637903	0.76676	0.442400544882	0.30905	T	0.426084	0.77599	T	-0.00289784	0.51255	T	-0.241939	0.50610	T	0.979637920856476	0.72933	D	0.90211	0.65873	D	0.30787155	0.53601	0.30565557	0.56592	0.30787155	0.53601	0.30565557	0.56591	-4.498	0.30863	T	0.38156102060009467	0.47593	0.270	0.50454	B	.	.	4.195239	0.63268	24.6	0.99883827264187275	0.95970	0.97868	0.77733	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999982577881363	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.53	4.53	0.55009	4.281000	0.58758	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.434	0.74855	323	0.86843	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1197.98	34	chrX	70406349	.	C	T	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.040e-01;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.01;ReadPosRankSum=-1.280e-01;SOR=0.708	GT:AD:DP:GQ:PL	0/1:79,54:133:99:1212,0,2028	20	0	1	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	.	9	1217	293	0	3	296	0.107444	.	.	706313	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.22	T	0.842	P	0.1	B	0.514	U	1.000	N	0	N	-1.96	D	-0.795	T	0.216	T	0.391	-2.619	0	0.088	0.675	0.068	3.724	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.3095	5960.15	34	chrX	74591904	.	A	G	5960.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.726e+00;DP=3755;ExcessHet=11.8493;FS=3.151;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=58.85;MQRankSum=-1.351e+01;QD=1.72;ReadPosRankSum=3.78;SOR=0.410	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:391,30:421:83:0|1:74591902_T_A:83,0,16328:74591902	8	0	13	0
chrX	75450748	75450748	C	A	exonic	ZDHHC15	.	nonsynonymous SNV	ZDHHC15:NM_001146257:exon3:c.G406T:p.A136S,	.	.	1	1516	3	2	0	7	0.00230339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.015e-05	0	0.0002	0	0	8.362e-05	0	9.927e-05	7.12e-05	11	154602	rs764335966	8.941e-05	9.014e-05	8.856e-05	9.114e-05	0.0022	7.506e-05	6.896e-05	0.0011	0.0009	0	5.698e-05	5.185e-05	0	0	0.0022	9.16e-05	0.0001	5.545e-05	8.973e-05	8.711e-05	0.0001	5.943e-05	0.0002	4.827e-05	3.697e-05	7.462e-05	5.463e-05	6.512e-05	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1668.98	37	chrX	75450748	.	C	A	1668.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.588e+00;DP=843;ExcessHet=0.0000;FS=4.038;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=0.349;SOR=0.424	GT:AD:DP:GQ:PL	0/1:77,70:147:99:1683,0,1986	20	0	1	0
chrX	105749025	105749025	G	A	exonic	IL1RAPL2	.	nonsynonymous SNV	IL1RAPL2:NM_017416:exon9:c.G1114A:p.V372M,	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.868	P	0.38	B	0.025	N	1.000	N	2.135	M	3.61	T	-1.017	T	0.015	T	0.189	1.828	12.07	-0.374	-0.130	0.871	3.167	0.080	0.209931271415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.477e-06	5.463e-06	4.085e-06	8.311e-06	0.0002	1.97e-06	1.29e-06	.	.	0	0	0	0	0	0.0002	1.191e-06	8.701e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.011	0.64786	D	0.868	0.47740	P	0.38	0.43842	B	0.025268	0.26117	N	0.326018	1	0.08975	N	1.905	0.50856	L	3.61	0.04446	T	-1.17	0.29933	N	0.13	0.12484	-1.0168	0.24755	T	0.015	0.06282	T	10	0.15826747	0.29766	T	0.209931	0.87225	D	0.080	0.23350	0.465	0.53566	0.102598925029	0.09809	0.5863943473979755	0.58569	0.348927015905	0.36754	0.347879707813	0.17609	T	0.082683	0.36884	T	-0.392808	0.02580	T	-0.802018	0.01852	T	0.284237682819366	0.24349	T	0.849215	0.53152	T	0.07177818	0.15916	0.10454927	0.25113	0.07177818	0.15916	0.10454927	0.25113	-6.375	0.49314	T	.	.	0.233	0.46631	B	.;.	.;.	1.516757	0.19477	14.28	0.99678900793968828	0.79108	0.19397	0.20645	N	AEFI	.	.	.	.	.	.	.	.	.	0.00243051004727017	0.09418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.82	-0.374	0.11890	0.916000	0.28273	1.406000	0.26239	0.676000	0.76740	0.422000	0.26346	0.784000	0.26805	0.755000	0.35964	0.274:0.1157:0.4947:0.1156	3.167	0.06149	53	0.97589	.;.	.	.	.	.	.	Uncertain significance	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	1254.98	38	chrX	105749025	.	G	A	1254.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.274;DP=847;ExcessHet=0.0000;FS=2.403;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=1.52;SOR=0.962	GT:AD:DP:GQ:PL	0/1:65,54:119:99:1269,0,1556	20	0	1	0
chrX	120875562	120875562	C	T	exonic	CT47B1	.	nonsynonymous SNV	CT47B1:NM_001145718:exon1:c.G109A:p.D37N,	.	.	140	1364	9	9	0	27	0.00980036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.998	D	0.982	D	0.883	N	1.000	N	0.625	N	.	.	-1.007	T	0.090	T	0.014	2.408	14.01	0.422	0.016	-0.625	3.056	0.043	0.0204394931847	.	0.0010596	0.0024	0.0004	0.0003	0	0.0024	0.0022	0	0.0081	0.0018564	287	154602	rs201496820	0.0022	0.0022	0.0021	0.0025	0.0087	0.0021	0.0021	0.0060	0.0052	0.0003	0.0002	0.0007	3.323e-05	0.0008	0.0087	0.0022	0.0023	0.0059	0.0015	0.0015	0.0015	0.0016	0.0045	0.0013	0.0012	0.0024	0.0019	0.0004	0	0.0003	0.0008	0	0.0004	0.0098	0.0024	0.0035	0.0045	0.409	0.10180	T	0.033	0.53072	D	0.998	0.73220	D	0.982	0.75477	D	0.883443	0.08739	N	0.913390	1	0.08975	N	2.24	0.63355	M	.	.	.	-1.27	0.31981	N	0.029	0.00666	-1.0069	0.27881	T	0.090	0.34491	T	9	0.00861612	0.00195	T	0.020439	0.43035	T	0.043	0.11576	.	.	0.0297737177859	0.01360	0.027698094747085726	0.02719	0.0266164007129	0.02719	0.460752248764	0.33413	T	0.019919	0.15779	T	-0.849463	0.00003	T	-0.989664	0.00160	T	0.0198412439985195	0.00686	T	0.639636	0.25265	T	0.070556395	0.15551	0.05144595	0.08282	0.070556395	0.15550	0.05144595	0.08282	-4.819	0.34812	T	.	.	0.149	0.32992	B	.	.	1.244299	0.16405	12.52	0.99588817944689012	0.73454	0.00117	0.00738	N	AEFBI	.	.	.	.	.	.	.	.	.	2.69833855707022E-5	0.03498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.34	0.422	0.15674	0.162000	0.16318	-5.150000	0.01829	0.353000	0.19991	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.5281:0.2863:0.1856	3.056	0.05811	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	163.27	6	chrX	120875562	.	C	T	163.27	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.13;DP=221;ExcessHet=0.0000;FS=8.929;InbreedingCoeff=-0.0421;MLEAC=1;MLEAF=0.024;MQ=45.39;MQRankSum=2.84;QD=8.59;ReadPosRankSum=-1.580e+00;SOR=3.126	GT:AD:DP:GQ:PL	0/1:13,6:19:99:177,0,305	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	0/1:55,22:86:23:23,0,707	5	0	16	0
chrX	136492148	136492148	G	A	exonic	BRS3	.	nonsynonymous SNV	BRS3:NM_001727:exon3:c.G973A:p.V325I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.998	D	0.924	D	0.000	D	0.997	D	1.37	L	1.26	T	-0.976	T	0.168	T	0.343	3.631	18.47	5.81	2.439	3.638	19.017	0.135	0.517257361167	.	.	5.699e-05	0	0	0	0	2.084e-05	0	0.0004	5.82e-05	9	154602	rs780571965	2.368e-05	2.367e-05	1.225e-05	4.677e-05	0.0004	1.647e-05	1.399e-05	0.0002	0.0002	0	8.522e-05	0	0	0	0	2.375e-06	2.169e-05	0.0004	2.727e-05	3.491e-05	0	9.288e-05	0.0003	7.25e-06	3.01e-06	7.857e-05	4.217e-05	0	0	0.0003	0	0	0	0	0	0	0	0.014	0.53172	D	0.029	0.54541	D	0.998	0.73220	D	0.924	0.65913	D	0.000003	0.62929	D	0.000000	0.997248	0.43737	D	1.155	0.29575	L	1.26	0.36330	T	-0.53	0.16393	N	0.046	0.01825	-0.9755	0.36015	T	0.168	0.50762	T	10	0.5012338	0.61560	D	0.517257	0.95392	D	0.135	0.36572	0.579	0.70476	0.496990393407	0.49334	0.3986937567886036	0.39784	0.638895557223	0.57580	0.527066469193	0.42621	T	0.102981	0.41121	T	-0.399205	0.02343	T	-0.508077	0.21512	T	0.150316784323368	0.17128	T	0.886711	0.61387	D	0.37115154	0.58670	0.35531422	0.61061	0.37115154	0.58670	0.35531422	0.61060	-4.232	0.27212	T	.	.	0.116	0.23535	B	.	.	3.429851	0.47660	22.5	0.99808082570989021	0.89264	0.85817	0.44993	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999999999889971	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.81	5.81	0.92413	4.521000	0.60248	7.555000	0.60355	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.017	0.92878	719	0.55657	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	2876.98	36	chrX	136492148	.	G	A	2876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.905;DP=999;ExcessHet=0.0000;FS=2.269;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=0.598;SOR=0.755	GT:AD:DP:GQ:PL	0/1:109,114:223:99:2891,0,2633	20	0	1	0
chrX	141906385	141906385	C	0	exonic	MAGEC1	.	.	.	.	.	532	287	199	469	35	1172	0.664524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7105	95143.29	325	chrX	141906385	.	C	G,*	95143.29	.	AC=25,3;AF=0.658,0.079;AN=38;BaseQRankSum=1.37;DP=4666;ExcessHet=0.0001;FS=0.000;InbreedingCoeff=0.6889;MLEAC=27,3;MLEAF=0.711,0.079;MQ=57.01;MQRankSum=-5.940e-01;QD=25.67;ReadPosRankSum=0.391;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,379,0:379:99:.:.:12099,1136,0,12099,1136,12099	4	11	2	2
chrX	151397323	151397323	T	G	exonic	VMA21	.	nonsynonymous SNV	VMA21:NM_001017980:exon1:c.T15G:p.D5E,	Myopathy, X-linked, with excessive autophagy, X-linked recessive	.	1	1512	6	3	0	12	0.00395257	.	.	379026	not_specified|VMA21-related_disorder|Inborn_genetic_diseases|not_provided|X-linked_myopathy_with_excessive_autophagy	MedGen:CN169374|.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0010684,MedGen:C1839615,OMIM:310440,Orphanet:25980	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.002	B	.	.	1.000	N	0.345	N	.	.	-1.035	T	0.051	T	0.142	1.944	12.46	-0.915	-0.107	0.528	5.110	0.029	0.0521174705859	.	.	0.0009	0	0	0	.	0.0004	0	0.0013	9.06e-05	14	154602	rs765120199	0.0004	0.0004	0.0004	0.0005	0.0020	0.0004	0.0004	0.0017	0.0015	4.017e-05	0.0005	0	3.687e-05	0	0.0013	0.0004	0.0007	0.0020	0.0004	0.0003	0.0004	0.0002	0.0014	0.0003	0.0002	0.0005	0.0003	3.2e-05	0	0.0008	0	0.0006	0	0	0.0004	0.0007	0.0014	0.278	0.15613	T	0.475	0.12072	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.81001	D	0.55	0.14455	N	.	.	.	-0.52	0.16187	N	0.058	0.02964	-1.0349	0.18888	T	0.051	0.21806	T	8	0.016320378	0.00344	T	0.052117	0.64939	D	0.029	0.06676	0.257	0.19845	0.0675242888579	0.06100	.	.	0.727047607057	0.62546	0.741258740425	0.73158	T	0.002723	0.02115	T	-0.556968	0.00265	T	-0.59745	0.13026	T	0.0155201040789276	0.00352	T	0.559344	0.19537	T	0.059385717	0.12062	0.07430366	0.16240	0.05172803	0.09542	0.07998654	0.18053	-2.842	0.08576	T	.	.	0.070	0.03552	B	.	.	1.860680	0.23633	16.09	0.94523969207673675	0.25016	0.69658	0.34275	D	ALL	.	.	.	.	.	.	.	.	.	0.999999999964297	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.17	-0.915	0.09960	0.262000	0.18229	0.238000	0.16272	-0.120000	0.14102	1.000000	0.71638	0.995000	0.32472	0.200000	0.21896	0.0:0.3473:0.1696:0.4831	5.110	0.14136	728	0.54609	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	1031.98	33	chrX	151397323	.	T	G	1031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.600e-02;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=-1.570e-01;SOR=0.659	GT:AD:DP:GQ:PL	0/1:40,44:84:99:1046,0,956	20	0	1	0
chrX	152135131	152135131	C	T	exonic	MAGEA10	.	nonsynonymous SNV	MAGEA10:NM_021048:exon4:c.G490A:p.V164I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.35	B	0.701	P	0.000	N	1.000	N	0.555	N	3.43	T	-0.953	T	0.016	T	0.173	0.301	5.629	-5.37	-2.036	-2.566	3.550	0.136	0.00402543603339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.68238	T	0.132	0.34477	T	0.35	0.33644	B	0.701	0.54186	P	0.000016	0.62929	N	0.066765	1	0.08975	N	1.305	0.32671	L	3.43	0.05440	T	-0.83	0.22944	N	0.044	0.01658	-0.9529	0.40468	T	0.016	0.06329	T	10	0.19077903	0.34735	T	0.004025	0.09556	T	0.136	0.36778	0.65	0.78753	0.124217242631	0.12060	0.3635362644906743	0.36267	0.209291043969	0.23399	0.449119746685	0.31823	T	0.034526	0.34085	T	-0.449747	0.01133	T	-0.883807	0.00623	T	0.430160850286484	0.30066	T	0.732927	0.36808	T	0.11682613	0.27549	0.08340559	0.19109	0.11682613	0.27549	0.08340559	0.19109	-5.523	0.42082	T	.	.	0.095	0.14842	B	.;.;.	.;.;.	-0.541142	0.01739	0.130	0.79641795350957512	0.12834	0.00844	0.03380	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.999388940130356	0.39415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.68	-5.37	0.02472	-2.853000	0.00799	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.2919:0.2283:0.0:0.4799	3.550	0.07398	778	0.48011	MAGE homology domain|MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain|MAGE homology domain;MAGE homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2416.98	42	chrX	152135131	.	C	T	2416.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.834;DP=987;ExcessHet=0.0000;FS=1.684;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.45;ReadPosRankSum=-6.780e-01;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,93:211:99:0|1:152135124_C_T:2431,0,3048:152135124	20	0	1	0
chrX	154956961	154956961	T	C	exonic	F8	.	nonsynonymous SNV	F8:NM_000132:exon11:c.A1748G:p.N583S,	Hemophilia A, X-linked recessive	YES	0	225	0	1	0	2	0.00442478	.	.	481379	Hereditary_factor_VIII_deficiency_disease	MONDO:MONDO:0010602,MedGen:C0019069,OMIM:134500,OMIM:306700,Orphanet:98878	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	1.0	D	0.996	D	0.000	D	1.000	D	1.27	L	-5.23	D	1.059	D	0.945	D	0.044	2.954	15.85	5.19	1.727	1.956	12.926	0.629	0.9265116347	.	.	2.279e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs782657516	1.734e-05	1.73e-05	5.446e-06	4.155e-05	0.0003	1.109e-05	8.94e-06	0.0002	0.0002	0	0	0	0	0	0	1.191e-06	2.174e-05	0.0003	2.672e-05	2.609e-05	1.285e-05	5.809e-05	0.0011	7.1e-06	2.97e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0011	0.089	0.32141	T	0.011	0.64786	D	1.0	0.90584	D	0.996	0.84481	D	0.000024	0.55875	D	0.155638	0.999722	0.48557	D	1.095	0.27400	L	-5.23	0.98892	D	-2.39	0.52612	N	0.055	0.02658	1.059	0.98321	D	0.945	0.98184	D	10	0.7079958	0.72862	D	0.926512	0.99464	D	0.629	0.85718	0.73	0.86373	0.984672753151	0.98450	0.954050767689727	0.95389	1.46387727901	0.86409	0.613436818123	0.54802	T	0.497398	0.81929	T	-0.24079	0.15248	T	-0.323976	0.42138	T	0.416316891983362	0.29554	T	0.911409	0.68582	D	0.7084721	0.78523	0.41316167	0.65497	0.7084721	0.78525	0.41316167	0.65497	-5.66	0.43335	T	0.745327585685457	0.82742	0.326	0.54968	B	.	.	3.892787	0.56649	23.8	0.99817250857811279	0.90061	0.82677	0.41872	D	AEFBI	.	.	.	.	.	.	.	.	.	0.0678368658252265	0.15439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.19	5.19	0.71428	1.950000	0.39948	7.724000	0.67448	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	12.926	0.57656	203	0.92088	.	.	.	.	.	.	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	1992.98	35	chrX	154956961	.	T	C	1992.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=873;ExcessHet=0.0000;FS=3.539;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=0.037;SOR=0.470	GT:AD:DP:GQ:PL	0/1:94,79:173:99:2007,0,2434	20	0	1	0