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	NSWES950	WT	HH	HZ	NC
chr1	979831	979831	G	A	exonic	PERM1	.	nonsynonymous SNV	PERM1:NM_001369898:exon1:c.C1199T:p.A400V	.	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.019	B	0.022	B	0.638	U	1.000	N	.	.	0.97	T	-0.993	T	0.087	T	0.057	2.121	13.05	2.6	0.819	0.671	9.100	0.026	0.0185273084156	.	0.000599042	0.0017	0	0	0	0.0007	0.0013	0.0051	0.0023	0.0002329	36	154602	rs577120404	0.0009	0.0008	0.0008	0.0010	0.0024	0.0008	0.0008	0.0021	0.0020	0.0002	0.0001	0.0023	0	0.0015	0.0011	0.0008	0.0006	0.0024	0.0007	0.0007	0.0007	0.0008	0.0023	0.0006	0.0006	0.0013	0.0010	4.808e-05	0	0	0.0023	0	0.0020	0.0034	0.0010	0.0005	0.0023	0.029	0.45756	D	0.073	0.43913	T	.	.	.	.	.	.	0.637774	0.10627	U	0.721314	1	0.08975	N	.	.	.	0.97	0.42502	T	-1.42	0.34992	N	0.222	0.24883	-0.9927	0.31906	T	0.087	0.33830	T	9	0.005650878	0.00125	T	0.018527	0.40624	T	0.026	0.05648	.	.	0.0482279557977	0.04254	0.12155043505038945	0.12082	.	.	.	.	.	0.029361	0.21058	T	-0.642163	0.00081	T	-0.700437	0.05802	T	0.0140976008727006	0.00274	T	0.371963	0.10281	T	0.02111979	0.00699	0.06434521	0.12881	0.02111979	0.00698	0.06434521	0.12881	-5.786	0.46522	T	.	.	0.116	0.23500	B	.;.	.;.	0.896959	0.12707	9.228	0.98901071050071854	0.48181	0.15022	0.18705	N	AEFDBCI	0.079958	0.16159	N	-1.0085836735568	0.08424	0.3949748	-1.06137548402993	0.08470	0.4166884	0.995574168383274	0.34201	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	3.52	2.6	0.30173	2.730000	0.47007	.	.	-1.241000	0.01314	0.232000	0.24664	0.105000	0.22724	0.002000	0.04165	0.1118:0.0:0.8882:0.0	9.100	0.35826	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4772.98	103	chr1	979831	.	G	A	4772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.228e+00;DP=1846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.94;ReadPosRankSum=-8.720e-01;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,129:252:99:0|1:979831_G_A:4787,0,4666:979831	20	0	1	0
chr1	980234	980234	T	A	exonic	PERM1	.	nonsynonymous SNV	PERM1:NM_001369898:exon1:c.A796T:p.T266S	.	.	423	1090	9	0	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.058	B	0.015	B	0.551	N	1.000	N	.	.	0.86	T	-1.064	T	0.053	T	0.105	0.685	7.660	-7.54	-1.588	-2.130	2.197	0.015	0.00579008305942	.	0.00179712	0.0008	0	0	0	0	0.0015	0	0.0007	0.0004398	68	154602	rs186435690	0.0019	0.0018	0.0019	0.0019	0.0032	0.0018	0.0018	0.0022	0.0021	0.0005	0.0008	7.942e-05	0	8.337e-05	0.0032	0.0023	0.0022	0.0003	0.0016	0.0016	0.0017	0.0015	0.0027	0.0014	0.0014	0.0024	0.0023	0.0006	0.0066	0.0014	0	0	0.0002	0.0034	0.0027	0.0019	0.0008	0.279	0.15561	T	0.659	0.08839	T	.	.	.	.	.	.	0.551365	0.05372	N	1.263340	1	0.08975	N	.	.	.	.	.	.	-1.06	0.27669	N	0.05	0.02179	-1.0642	0.10736	T	0.053	0.22655	T	9	0.004563421	0.00095	T	0.00579	0.15042	T	0.015	0.02232	.	.	0.0297737177859	0.01360	0.051393872434996796	0.05081	.	.	.	.	.	0.028445	0.20604	T	-0.636245	0.00088	T	-0.689119	0.06440	T	0.00182761711972238	0.00019	T	0.342666	0.10263	T	0.028213155	0.02124	0.03697222	0.03251	0.028213155	0.02124	0.03697222	0.03250	-3.26	0.13227	T	.	.	0.142	0.31228	B	.;.	.;.	-0.556608	0.01695	0.123	0.6366384684374824	0.07284	0.05448	0.11325	N	AEFDGBCI	0.108101	0.21516	N	-1.33006194469544	0.03336	0.1488563	-1.4808714068551	0.02501	0.1151442	0.999919450837561	0.45857	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.79	-7.54	0.01189	-2.041000	0.01503	.	.	-0.229000	0.07765	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1119:0.179:0.2216:0.4876	2.197	0.03674	855	0.34697	.;.	.	.	.	.	.	Uncertain significance	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	2640.98	43	chr1	980234	.	T	A	2640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.85;DP=1073;ExcessHet=0.0000;FS=5.233;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=-9.000e-01;SOR=1.063	GT:AD:DP:GQ:PL	0/1:103,93:196:99:2655,0,2901	20	0	1	0
chr1	1295823	1295823	G	A	exonic	ACAP3	.	nonsynonymous SNV	ACAP3:NM_030649:exon18:c.C1618T:p.R540W,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.897	P	0.607	N	0.953	D	0.895	L	1.67	T	-0.992	T	0.130	T	0.871	2.381	13.92	3.74	2.164	0.748	13.401	0.245	0.102389005156	7.7e-05	.	0.0002	0	0	0.0001	0	6.229e-05	0	0.0010	0.0001423	22	154602	rs143854090	7.817e-05	8.209e-05	4.913e-05	0.0001	0.0010	6.615e-05	6.157e-05	0.0008	0.0007	2.987e-05	0	0	2.519e-05	0	0.0003	2.069e-05	4.971e-05	0.0010	5.256e-05	5.253e-05	3.854e-05	6.724e-05	0.0006	2.557e-05	1.83e-05	0.0002	8.977e-05	2.412e-05	0	0	0	0	0	0	5.881e-05	0	0.0006	0.001	0.78490	D	0.003	0.79402	D	0.998	0.90584	D	0.644	0.63631	P	0.606607	0.05677	N	1.254730	0.557505	0.37803	D	2.16	0.60381	M	1.52	0.30669	T	-2.87	0.66325	D	0.371	0.49237	-0.9915	0.32218	T	0.130	0.43907	T	10	0.15324163	0.28930	T	0.102389	0.77582	D	0.245	0.55201	.	.	0.289847578895	0.28608	0.5726682340490865	0.57194	0.733661856495	0.62852	0.559488296509	0.47196	T	0.32043	0.69162	T	-0.156705	0.27268	T	-0.0542205	0.66733	D	0.143227041010245	0.16550	T	0.90281	0.66017	D	0.12505588	0.29325	0.1239105	0.29872	0.12505588	0.29325	0.1239105	0.29872	-5.43	0.41207	T	.	.	0.116	0.30157	B	.;.	.;.	3.703851	0.52842	23.3	0.99886737203690235	0.96204	0.51793	0.28979	D	AEFBI	0.473984	0.51844	N	-0.0507677593760517	0.39568	2.335475	-0.153137880434177	0.33288	1.902582	0.22260515726993	0.18373	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.7	3.74	0.42108	0.334000	0.19529	2.572000	0.33370	-0.247000	0.07223	0.000000	0.06391	0.963000	0.29397	0.001000	0.02609	0.0:0.0:0.7201:0.2799	13.401	0.60327	779	0.47767	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1197.98	45	chr1	1295823	.	G	A	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=816;ExcessHet=0.0000;FS=0.838;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=-3.560e-01;SOR=0.804	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1212,0,1037	20	0	1	0
chr1	1478731	1478731	C	T	exonic	ATAD3B	.	nonsynonymous SNV	ATAD3B:NM_001317238:exon1:c.C232T:p.R78W	.	.	458	1050	13	1	0	15	0.0070922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.967	D	0.000	D	1.000	D	1.935	M	-2.08	D	0.324	D	0.681	D	0.427	2.499	14.32	1.62	1.501	2.553	7.357	0.456	.	0.0013	0.00179712	0.0062	0.0007	0	0	0	0.0036	0.0068	0.0100	0.0008409	130	154602	rs202031472	0.0039	0.0037	0.0037	0.0040	0.0069	0.0038	0.0038	0.0064	0.0062	0.0009	0.0013	4.003e-05	2.811e-05	0.0003	0.0054	0.0042	0.0033	0.0069	0.0025	0.0026	0.0026	0.0025	0.0067	0.0023	0.0022	0.0047	0.0041	0.0009	0	0.0027	0	0	0	0.0035	0.0038	0.0032	0.0067	0.001	0.78490	D	0.003	0.76473	D	0.999	0.77913	D	0.967	0.71530	D	0.000227	0.47286	D	0.140436	0.663261	0.81001	D	1.995	0.54099	M	-2.08	0.86010	D	-4.74	0.80172	D	0.318	0.35832	0.324	0.87938	D	0.681	0.88981	D	10	0.009978145	0.00224	T	.	.	.	0.456	0.75483	.	.	0.825186229873	0.82353	0.0755819370629022	0.07494	1.99237969239	0.93758	0.838588953018	0.87880	D	0.087938	0.38051	T	0.0920444	0.63418	D	-0.105561	0.62963	T	0.0573898437132183	0.06752	T	0.982102	0.93912	D	0.331858	0.55623	0.27901825	0.53866	0.331858	0.55623	0.27901825	0.53865	-8.841	0.66668	D	.	.	.	.	.	.	.	4.355797	0.66946	25.0	0.99808990911133344	0.89264	0.63710	0.32174	D	AEFBI	0.253162	0.37271	N	0.25135986018243	0.53704	3.538363	0.114161420916605	0.45271	2.793328	0.868512869840288	0.25367	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	2.7	1.62	0.22817	1.671000	0.37129	1.038000	0.23534	0.510000	0.23265	0.833000	0.30177	0.451000	0.24953	0.816000	0.38450	0.5006:0.4993:0.0:0.0	7.357	0.25900	856	0.34373	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	334.98	19	chr1	1478731	.	C	T	334.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.98;DP=393;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=39.43;MQRankSum=1.45;QD=15.95;ReadPosRankSum=0.352;SOR=0.610	GT:AD:DP:GQ:PL	0/1:11,10:21:99:349,0,272	20	0	1	0
chr1	1708845	1708845	C	T	exonic	CDK11A	.	nonsynonymous SNV	CDK11A:NM_001313896:exon9:c.G961A:p.E321K	.	.	67	1446	7	0	2	9	0.00241463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.673	P	0.281	B	0.001	N	1.000	D	1.87	L	3.47	T	-0.970	T	0.017	T	0.445	0.572	7.091	1.84	1.434	2.743	7.263	0.087	0.0302105048647	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1225816713	8.693e-07	2.783e-06	0	1.733e-06	1.172e-06	0	0	.	.	0	0	0	0	0	0	1.172e-06	0	0	2.455e-05	2.152e-05	3.17e-05	1.692e-05	8.492e-05	6.52e-06	2.81e-06	8.91e-06	3.33e-06	5.377e-05	0	8.492e-05	0	0	0	0	0	0	0	0.158	0.57480	T	0.56	0.11115	T	0.673	0.41222	P	0.281	0.40336	B	0.001104	0.40219	N	0.271361	0.909234	0.81001	D	1.955	0.52871	M	3.47	0.05188	T	-0.13	0.10136	N	0.348	0.40665	-0.9695	0.37304	T	0.017	0.06902	T	10	0.14012855	0.26638	T	0.030211	0.52566	D	0.087	0.25287	0.138	0.04187	0.176091768786	0.17195	0.07914336068269959	0.07849	0.217344145385	0.24254	.	.	.	0.018861	0.15131	T	-0.132016	0.31171	T	-0.427408	0.30230	T	0.475448995828629	0.31731	T	0.950605	0.83071	D	0.052149363	0.09685	0.07298679	0.15810	0.052149363	0.09685	0.07298679	0.15809	-9.491	0.71058	D	.	.	0.328	0.58715	B	.;.;.;.;.;.	.;.;.;.;.;.	3.567234	0.50221	22.9	0.97384242455105652	0.33691	0.72658	0.35556	D	AEFI	0.365857	0.45388	N	-0.122115038323663	0.36430	2.105685	-0.106217751864967	0.35138	2.029386	1.06106871247574E-4	0.05123	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	2.82	1.84	0.24348	2.965000	0.48892	2.823000	0.34975	0.265000	0.18437	0.998000	0.41325	0.244000	0.23872	0.375000	0.26223	0.0:0.8581:0.0:0.1419	7.263	0.25387	649	0.63102	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	761.98	34	chr1	1708845	.	C	T	761.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.45;DP=858;ExcessHet=0.0000;FS=3.027;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.85;MQRankSum=-1.044e+00;QD=9.65;ReadPosRankSum=1.22;SOR=0.941	GT:AD:DP:GQ:PL	0/1:44,35:79:99:776,0,936	20	0	1	0
chr1	2374479	2374479	T	C	exonic	MORN1	.	nonsynonymous SNV	MORN1:NM_001301060:exon7:c.A616G:p.I206V	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.429	B	0.108	B	0.001	N	1.000	D	1.32	L	1.02	T	-1.091	T	0.065	T	0.155	0.987	9.030	2.93	0.342	0.979	6.314	0.014	.	0.0015	0.000798722	0.0057	0.0004	0.0015	0	0.0538	0.0078	0.0120	0.0004	0.0023738	367	154602	rs56199918	0.0027	0.0027	0.0028	0.0026	0.0027	0.0026	0.0026	0.0026	0.0026	0.0002	0.0005	0.0002	0	0.0139	0.0005	0.0027	0.0023	0.0006	0.0022	0.0022	0.0017	0.0028	0.0021	0.0020	0.0020	0.0018	0.0017	0.0002	0	0.0003	0.0012	0.0002	0.0160	0	0.0021	0.0009	0.0015	0.258	0.17643	T	0.193	0.28210	T	0.429	0.35556	B	0.108	0.31289	B	0.000789	0.41772	N	0.101080	0.974514	0.25487	N	1.875	0.49914	L	1.02	0.40749	T	-0.32	0.12283	N	0.284	0.32148	-1.0907	0.05416	T	0.065	0.26913	T	10	0.009079546	0.00205	T	.	.	.	0.014	0.01968	.	.	0.253205268125	0.24938	0.3030198253595968	0.30214	0.029437248235	0.03026	0.418381989002	0.27615	T	0.013265	0.11507	T	-0.517675	0.00454	T	-0.519117	0.20383	T	0.0181331751822309	0.00535	T	0.659134	0.27951	T	.	.	.	.	.	.	.	.	-7.208	0.61030	T	.	.	0.186	0.40246	B	.;.	.;.	1.496617	0.19246	14.16	0.94336355332955035	0.24673	0.59986	0.31067	D	AEFBCI	0.142066	0.26441	N	-0.344536461820671	0.27473	1.507598	-0.246433095763041	0.29894	1.678604	0.996669942189986	0.34909	0.660377	0.49826	0	0.694456	0.67091	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	5.21	2.93	0.33092	0.703000	0.25321	0.021000	0.13590	0.665000	0.62972	1.000000	0.71638	0.965000	0.29475	0.279000	0.23992	0.0:0.1974:0.0:0.8026	6.314	0.20386	958	0.09170	.;.	.	.	.	.	rs56199918	Uncertain significance	0	0	0	0	0	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	1640.98	33	chr1	2374479	.	T	C	1640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.270e-01;DP=853;ExcessHet=0.0000;FS=2.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=-5.380e-01;SOR=0.889	GT:AD:DP:GQ:PL	0/1:78,68:146:99:1655,0,1957	20	0	1	0
chr1	3752488	3752488	G	A	exonic	CCDC27	.	nonsynonymous SNV	CCDC27:NM_152492:exon1:c.G7A:p.E3K,	.	.	430	1083	9	0	0	9	0.00413793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.009	B	0.006	B	.	.	1.000	N	0	N	2.06	T	-0.982	T	0.022	T	0.075	0.570	7.080	0.644	0.133	-0.846	4.182	0.002	.	7.7e-05	0.00938498	0.0048	9.684e-05	0.0004	0	0	6.035e-05	0.0022	0.0343	0.0041526	642	154602	rs371944543	0.0021	0.0021	0.0012	0.0030	0.0317	0.0020	0.0020	0.0308	0.0303	0.0007	0.0003	0	0	0	0.0033	0.0001	0.0024	0.0317	0.0013	0.0013	0.0007	0.0019	0.0377	0.0011	0.0011	0.0332	0.0315	9.622e-05	0	6.535e-05	0	0	0	0	0.0001	0	0.0377	0.212	0.19500	T	0.364	0.16766	T	0.009	0.15093	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	-0.69	0.01958	N	2.06	0.20523	T	-0.24	0.10833	N	0.081	0.05670	-0.9817	0.34608	T	0.022	0.09375	T	9	0.00263986	0.00041	T	.	.	.	0.002	0.00045	.	.	0.110078149338	0.10416	0.13829829894949316	0.13753	0.142195288803	0.16031	0.269597738981	0.06089	T	0.004218	0.03630	T	-0.726822	0.00025	T	-0.793121	0.02080	T	0.00872084434313537	0.00107	T	0.465653	0.13651	T	0.027341487	0.01911	0.041710958	0.04802	0.027341487	0.01911	0.041710958	0.04802	-2.225	0.04163	T	.	.	0.075	0.05535	B	.	.	-0.783405	0.01140	0.053	0.66835579878372475	0.08175	0.00521	0.02426	N	AEFBI	0.024581	0.01544	N	-1.3211968370913	0.03433	0.153348	-1.34970294616399	0.03809	0.1784458	0.742276525276037	0.23231	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.78	0.644	0.16948	-0.885000	0.04269	-1.159000	0.06158	-1.540000	0.00981	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4838:0.0:0.5162:0.0	4.182	0.09841	792	0.45996	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2089.98	37	chr1	3752488	.	G	A	2089.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.188e+00;DP=920;ExcessHet=0.0000;FS=2.675;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=-7.000e-02;SOR=0.490	GT:AD:DP:GQ:PL	0/1:82,91:173:99:2104,0,1851	20	0	1	0
chr1	3836493	3836493	A	C	splicing	CEP104	NM_014704:exon10:c.1317+2T>G	.	.	Joubert syndrome 25, Autosomal recessive	.	.	.	.	.	.	.	.	1.0000	0.96	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.069	12.87	5.68	2.154	8.733	15.110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.735e-05	6.102e-05	3.846e-05	3.617e-05	0.0004	2.688e-05	2.371e-05	0.0002	0.0002	7.327e-05	7.78e-05	0.0003	0	0	0	1.969e-05	5.547e-05	0.0004	5.197e-05	0.0006	0.0001	0	0.0002	0	0	.	.	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.591722	0.72633	25.9	0.99213772171432246	0.55685	0.99525	0.97065	D	AEFDBI	.	.	.	1.04252772716544	0.96910	15.31459	0.857870838013166	0.93466	12.06219	0.999999134379761	0.74766	0.163922	0.03765	0	0.156668	0.03792	0	0.060301	0.00762	0	0.117559	0.03655	0	0.948117	0.61440	5.68	5.68	0.88021	8.725000	0.91200	10.879000	0.84044	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.393000	0.26625	1.0:0.0:0.0:0.0	15.110	0.72020	982	0.03397	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2308	383.65	28	chr1	3836493	.	A	C	383.65	.	AC=6;AF=0.231;AN=26;BaseQRankSum=-2.212e+00;DP=963;ExcessHet=1.7912;FS=18.016;InbreedingCoeff=-0.3299;MLEAC=8;MLEAF=0.308;MQ=60.00;MQRankSum=0.00;QD=1.86;ReadPosRankSum=1.90;SOR=2.259	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:32,14:46:99:.:.:126,0,731	7	0	6	8
chr1	6820184	6820184	G	A	exonic	CAMTA1	.	nonsynonymous SNV	CAMTA1:NM_001195563:exon2:c.G49A:p.V17I	Cerebellar ataxia, nonprogressive, with mental retardation, Autosomal dominant	.	1	1519	2	0	0	2	0.000657895	.	.	2805606	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.192	B	0.022	B	0.008	N	1.000	N	0	N	2.09	T	-1.034	T	0.025	T	0.291	3.488	17.84	4.14	2.826	3.752	11.050	0.063	0.00328698606741	.	0.000199681	0.0002	0	0	0	0	3.008e-05	0	0.0012	0.0001423	22	154602	rs572304401	7.653e-05	8.078e-05	3.615e-05	0.0001	0.0012	6.453e-05	6.015e-05	0.0010	0.0009	0	0	0	5.079e-05	0	0	2.879e-06	5.192e-05	0.0012	1.97e-05	1.969e-05	1.285e-05	2.686e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.003e-05	0	0	0	0	0	0	0	0	0	0.0006	0.072	0.37966	T	0.539	0.09795	T	0.192	0.29441	B	0.022	0.19653	B	0.008287	0.30918	N	0.123969	1	0.81001	D	0.345	0.11182	N	2.09	0.20122	T	-0.25	0.13418	N	0.366	0.47949	-1.0342	0.19109	T	0.025	0.10598	T	10	0.0333502	0.01509	T	0.003287	0.07298	T	0.063	0.18251	0.534	0.64293	0.426039362998	0.42221	0.05453653266779943	0.05395	0.441369322318	0.44128	0.850745916367	0.89727	D	0.008484	0.07792	T	-0.459917	0.00984	T	-0.473948	0.25091	T	0.110497826783548	0.13475	T	0.541546	0.18382	T	0.09704334	0.22868	0.049433563	0.07554	0.09704334	0.22867	0.049433563	0.07553	-3.648	0.18553	T	.	.	0.113	0.28693	B	.;.;.	.;.;.	4.754937	0.76815	26.6	0.99871973850192419	0.94989	0.87127	0.46574	D	AEFBI	0.497584	0.53205	N	-0.0853488829304547	0.38035	2.221567	0.118436853907567	0.45493	2.811406	0.999744434348866	0.42466	0.741868	0.97996	0	0.658105	0.61773	0	0.709663	0.75317	0	0.662026	0.63922	0	.	.	5.12	4.14	0.47821	3.776000	0.55063	11.050000	0.85287	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1874:0.8126:0.0	11.050	0.47100	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	3391.66	33	chr1	6820184	.	G	A	3391.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.55;DP=824;ExcessHet=0.0000;FS=1.353;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.07;ReadPosRankSum=-4.540e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/1:48,46:94:99:1179,0,1122	19	1	1	0
chr1	7965334	7965334	C	T	exonic	PARK7	.	nonsynonymous SNV	PARK7:NM_001123377:exon3:c.C101T:p.T34I	Parkinson disease 7, autosomal recessive early-onset, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	794726	not_provided|Autosomal_recessive_early-onset_Parkinson_disease_7	MedGen:C3661900|MONDO:MONDO:0011658,MedGen:C1853445,OMIM:606324,Orphanet:2828	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.453	P	0.476	P	0.000	N	1.000	D	2.165	M	-0.8	T	-0.251	T	0.410	T	0.235	1.338	10.40	3.63	1.459	2.953	8.958	0.246	0.0413771469861	.	.	4.943e-05	0	0	0	0	0	0.0011	0.0003	3.88e-05	6	154602	rs772272696	3.763e-05	3.831e-05	2.587e-05	4.951e-05	0.0003	2.96e-05	2.656e-05	0.0002	0.0002	0	0	0	0	0	0.0002	1.529e-05	0.0001	0.0003	1.973e-05	1.97e-05	1.285e-05	2.692e-05	0.0006	5.24e-06	2.46e-06	0.0002	9.007e-05	0	0	0	0	0	0	0	0	0	0.0006	0.012	0.54683	D	0.062	0.53426	T	0.453	0.36131	P	0.476	0.46961	P	0.000009	0.62929	N	0.175344	0.999997	0.58761	D	1.66	0.42513	L	-0.8	0.73845	T	-4.09	0.74821	D	0.418	0.45803	-0.2505	0.76346	T	0.410	0.75880	T	10	0.35414952	0.52205	T	0.041377	0.59893	D	0.246	0.55340	0.572	0.69564	0.41767021734	0.41382	0.8276744113220157	0.82725	0.17338185284	0.19527	0.709249317646	0.68485	T	0.546008	0.84542	D	-0.276249	0.11069	T	-0.306628	0.44021	T	0.197370011526547	0.20270	T	0.792521	0.49094	T	0.5963514	0.72495	0.40220112	0.64709	0.5963514	0.72496	0.40220112	0.64709	-7.257	0.55889	T	0.2162952216051809	0.29093	0.233	0.50232	B	.;.;.;.;.;.	.;.;.;.;.;.	2.688246	0.35084	19.80	0.97580395404128706	0.34731	0.91714	0.54108	D	AEFBI	0.679799	0.64370	D	0.0942722688033897	0.46195	2.863699	0.0899678424005548	0.44043	2.693708	0.999979985192047	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	3.63	0.40741	3.164000	0.50470	2.646000	0.33784	0.549000	0.26987	0.994000	0.38300	0.993000	0.31925	0.067000	0.16453	0.0:0.8051:0.0:0.1949	8.958	0.34991	824	0.40336	DJ-1/PfpI;DJ-1/PfpI;DJ-1/PfpI;.;DJ-1/PfpI;DJ-1/PfpI	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2055.08	34	chr1	7965334	.	C	T	2055.08	.	AC=2;AF=0.048;AN=42;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.62;SOR=1.010	GT:AD:DP:GQ:PL	1/1:0,63:63:99:2083,189,0	20	1	0	0
chr1	8360503	8360503	C	T	exonic	RERE	.	nonsynonymous SNV	RERE:NM_001042682:exon8:c.G1342A:p.A448T	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, Autosomal dominant	.	441	1066	14	1	0	16	0.00744879	.	.	1686921	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.41	T	0.989	D	0.751	P	.	.	1.000	D	1.445	L	0.86	T	-0.971	T	0.126	T	0.417	2.496	14.31	4.4	1.214	5.210	14.010	0.206	.	0.0044	0.00259585	0.0145	0.0006	0.0074	0	0.0148	0.0225	0.0139	0.0029	0.0033182	513	154602	rs4990444	0.0072	0.0070	0.0072	0.0072	0.0095	0.0071	0.0070	0.0080	0.0079	0.0011	0.0049	0.0054	0	0.0044	0.0095	0.0082	0.0070	0.0013	0.0072	0.0067	0.0077	0.0067	0.0120	0.0068	0.0066	0.0101	0.0094	0.0013	0.0402	0.0120	0.0070	0	0.0041	0.0137	0.0099	0.0080	0.0031	0.002	0.72154	D	0.356	0.23638	T	0.95	0.62824	P	0.494	0.56062	P	.	.	.	.	0.999812	0.81001	D	1.69	0.43327	L	0.85	0.47130	T	-0.78	0.28497	N	0.495	0.56576	-0.9712	0.36946	T	0.126	0.43257	T	9	0.007662475	0.00174	T	.	.	.	0.206	0.49396	.	.	0.586259384218	0.58299	0.12175989248457637	0.12102	0.344135329823	0.36337	0.651884317398	0.60253	T	0.108818	0.42216	T	-0.392285	0.02600	T	-0.325879	0.41925	T	0.0612193091960238	0.07360	T	0.867413	0.58316	D	0.18164605	0.39346	0.25226608	0.50853	0.17506939	0.38345	0.25226608	0.50852	-4.068	0.26286	T	0.2941586007636017	0.39101	0.085	0.12797	B	.;.;.;.	.;.;.;.	4.188149	0.63098	24.5	0.99595937240788979	0.73925	0.88491	0.48443	D	AEFBCI	0.430456	0.49316	N	0.00313759307228067	0.41997	2.522291	-0.017784574903612	0.38912	2.299377	0.999999494485025	0.74766	0.695654	0.57023	0	0.577304	0.33150	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.32	4.4	0.52402	5.281000	0.65416	4.168000	0.42254	0.597000	0.34315	1.000000	0.71638	0.999000	0.35428	0.006000	0.07323	0.1527:0.8472:0.0:0.0	14.010	0.64005	861	0.33516	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1578.08	42	chr1	8360503	.	C	T	1578.08	.	AC=2;AF=0.048;AN=42;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=34.31;SOR=2.985	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1606,137,0	20	1	0	0
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.989	D	0.969	D	0.000	D	1.000	D	1.355	L	-0.82	T	-0.170	T	0.498	T	0.639	3.746	19.02	5.6	2.633	9.476	19.620	0.290	0.0482880192528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.37326	T	0.212	0.26549	T	0.989	0.62824	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.82	0.75001	T	-1.39	0.36787	N	0.734	0.75009	-0.1696	0.78438	T	0.498	0.81014	T	10	0.6018709	0.66958	D	0.048288	0.63305	D	0.290	0.60924	0.219	0.14078	0.749556767029	0.74729	0.6982153262634863	0.69762	1.23630627734	0.81476	0.814065039158	0.84115	D	0.345935	0.71426	T	0.119299	0.66301	D	-0.0664114	0.65882	T	0.84802782535553	0.49996	D	0.984102	0.94582	D	0.2858203	0.51601	0.27822828	0.53781	0.2858203	0.51601	0.27822828	0.53780	-10.724	0.78968	D	.	.	0.374	0.62311	A	.;.;.;.;.	.;.;.;.;.	5.279577	0.88650	29.7	0.99699751426161221	0.80522	0.99370	0.95141	D	AEFGBI	0.891753	0.82802	D	0.588017507858634	0.72425	5.803883	0.669916851634812	0.80102	7.224664	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	11777.12	34	chr1	10326244	.	G	C	11777.12	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-6.149e+00;DP=3631;ExcessHet=11.8493;FS=235.795;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=4.35;ReadPosRankSum=0.590;SOR=13.423	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:186,17:221:99:.:.:422,0,6950	8	0	13	0
chr1	11711942	11711942	G	A	exonic	DRAXIN	.	nonsynonymous SNV	DRAXIN:NM_198545:exon4:c.G734A:p.G245D,	.	.	424	1077	21	0	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.175	B	0.058	B	0.171	N	1.000	N	-0.345	N	1.0	T	-1.011	T	0.027	T	0.102	0.518	6.806	2.19	0.127	0.606	5.986	0.013	0.00869014086054	0.0023	0.00239617	0.0030	0.0005	0.0040	0	0	0.0039	0.0025	0.0034	0.0026326	407	154602	rs143337024	0.0026	0.0026	0.0025	0.0026	0.0189	0.0025	0.0025	0.0160	0.0149	0.0007	0.0038	0.0059	0	9.365e-05	0.0189	0.0025	0.0038	0.0035	0.0025	0.0025	0.0023	0.0028	0.0084	0.0023	0.0022	0.0073	0.0068	0.0004	0.0022	0.0084	0.0063	0	0.0002	0.0068	0.0027	0.0062	0.0029	0.667	0.04602	T	0.659	0.06533	T	0.175	0.28858	B	0.058	0.26451	B	0.171464	0.17362	N	0.571130	1	0.08975	N	0	0.06538	N	1.0	0.41392	T	-0.13	0.08971	N	0.1	0.08227	-1.0106	0.26729	T	0.027	0.11618	T	10	0.0050876737	0.00110	T	0.00869	0.22952	T	0.013	0.01715	.	.	0.158396225186	0.15383	0.20699269443867516	0.20615	0.335625430574	0.35560	0.271372318268	0.06320	T	0.038483	0.24856	T	-0.597618	0.00151	T	-0.627208	0.10627	T	0.00131839134968863	0.00013	T	0.772323	0.40326	T	0.022511011	0.00919	0.03660499	0.03140	0.022511011	0.00919	0.03660499	0.03139	-4.245	0.27398	T	.	.	0.14	0.30686	B	.	.	2.128777	0.27101	17.35	0.88116028305620708	0.17728	0.45031	0.27448	N	AEFBI	0.062487	0.12014	N	-0.890550320041349	0.11066	0.5320832	-0.740347626990683	0.15959	0.8419655	0.829381201005123	0.24665	0.732398	0.92422	0	0.851559	0.99867	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.7	2.19	0.26890	0.831000	0.27129	1.939000	0.29818	-0.140000	0.12423	0.989000	0.36753	1.000000	0.68203	0.516000	0.29383	0.0:0.2138:0.1347:0.6515	5.986	0.18662	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	2537.98	38	chr1	11711942	.	G	A	2537.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.497;DP=954;ExcessHet=0.0000;FS=1.045;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=1.33;SOR=0.601	GT:AD:DP:GQ:PL	0/1:115,103:218:99:2552,0,2954	20	0	1	0
chr1	12848015	12848015	C	T	exonic	HNRNPCL1	.	nonsynonymous SNV	HNRNPCL1:NM_001013631:exon2:c.G275A:p.R92Q,	.	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.446	B	0.053	B	0.000	U	1.000	N	2.58	M	0.95	T	-1.028	T	0.087	T	0.16	0.957	8.904	-1.91	-0.877	1.003	3.860	0.143	0.00200890558545	.	.	9.884e-05	0	0.0002	0	0	1.498e-05	0	0.0005	8.41e-05	13	154602	rs540095399	1.647e-05	1.712e-05	2.185e-05	1.104e-05	0.0002	1.114e-05	9.36e-06	5.937e-05	4.039e-05	0	0.0001	0	0	0	0.0002	1.442e-05	1.662e-05	0	1.998e-05	1.978e-05	0	4.1e-05	4.438e-05	5.31e-06	2.47e-06	1.178e-05	6.27e-06	0	0	0	0	0	0	0	4.438e-05	0	0	0.075	0.34444	T	0.019	0.59159	D	0.446	0.35981	B	0.053	0.25678	B	0.000009	0.62929	U	0.000000	1	0.08975	N	.	.	.	0.95	0.43279	T	-2.7	0.57599	D	0.122	0.11340	-1.0279	0.21136	T	0.087	0.33857	T	10	0.096250236	0.17251	T	0.002009	0.03642	T	0.143	0.38195	0.487	0.57098	0.151104730317	0.14643	0.3075516662359546	0.30668	0.0444259073386	0.04792	0.450120717287	0.31961	T	0.068337	0.33431	T	-0.196346	0.21333	T	-0.519814	0.20313	T	0.221788719296455	0.21553	T	.	.	.	0.087507375	0.20380	0.07709837	0.17141	0.087507375	0.20379	0.07709837	0.17141	-10.694	0.77953	D	.	.	0.170	0.37274	B	.	.	1.091120	0.14746	11.29	0.94322732126570141	0.24650	0.01278	0.04465	N	AEFDGBI	0.025068	0.01654	N	-1.09510073288079	0.06733	0.3107906	-1.30450467543649	0.04371	0.2060472	1.18223938250994E-4	0.05269	0.693126	0.56070	0	0.383324	0.06291	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	1.09	-1.91	0.07225	2.305000	0.43324	-4.030000	0.02383	-2.121000	0.00385	0.952000	0.33172	0.000000	0.08366	0.000000	0.00833	0.2208:0.602:0.0:0.1772	3.860	0.08497	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3602.98	33	chr1	12848015	.	C	T	3602.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.35;DP=2119;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.61;MQRankSum=0.485;QD=13.30;ReadPosRankSum=1.29;SOR=0.669	GT:AD:DP:GQ:PL	0/1:131,140:271:99:3617,0,3022	20	0	1	0
chr1	12882032	12882032	T	A	exonic	PRAMEF4	.	nonsynonymous SNV	PRAMEF4:NM_001009611:exon3:c.A697T:p.M233L,	.	.	443	1070	9	0	0	9	0.00418799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.966	D	0.955	D	0.000	D	1.000	N	2.945	M	6.03	T	-1.036	T	0.008	T	0.443	1.860	12.18	1.48	0.939	0.506	5.132	0.109	0.000936699630294	0.0001	0.00119808	0.0004	0.0001	9.06e-05	0.0002	0	8.052e-05	0	0.0021	0.0002305	6	26028	rs369080299	0.0002	0.0002	0.0001	0.0003	0.0017	0.0002	0.0002	0.0015	0.0014	9.133e-05	9.219e-05	3.837e-05	7.634e-05	0	0.0007	8.764e-05	0.0003	0.0017	0.0001	0.0002	0.0001	0.0001	0.0018	7.906e-05	6.553e-05	0.0009	0.0006	5.169e-05	0	0	0	0	0	0.0035	0.0001	0	0.0018	0.014	0.53172	D	0.012	0.63918	D	0.966	0.56202	D	0.955	0.69585	D	0.000012	0.62929	D	0.114032	1	0.08975	N	3.35	0.91085	M	6.03	0.00597	T	-2.96	0.61722	D	0.45	0.48780	-1.0361	0.18513	T	0.008	0.02968	T	10	0.010457724	0.00233	T	9.37E-4	0.00934	T	0.109	0.30843	0.643	0.78010	0.0551355673512	0.04727	0.5472104662726296	0.54647	2.40020819914	0.97175	0.693356573582	0.66188	T	0.146359	0.48392	T	-0.151255	0.28116	T	-0.455044	0.27142	T	0.109405755677931	0.13361	T	.	.	.	0.3093651	0.53731	0.34743136	0.60397	0.3093651	0.53731	0.34743136	0.60396	-9.799	0.72699	D	.	.	0.364	0.57436	A	.	.	2.047840	0.26035	16.97	0.75431074848028712	0.11073	0.01712	0.05433	N	AEFI	0.022942	0.01212	N	-0.185740125614573	0.33726	1.916805	-0.520017858762252	0.21610	1.169851	2.65819391898374E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	1.48	0.21900	0.169000	0.16457	2.546000	0.33240	0.453000	0.21368	0.003000	0.16062	0.109000	0.22772	0.004000	0.06068	0.0:0.0:0.0:1.0	5.132	0.14245	952	0.10565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	5934.98	185	chr1	12882032	.	T	A	5934.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.56;DP=2736;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.55;MQRankSum=-3.792e+00;QD=14.62;ReadPosRankSum=-4.660e-01;SOR=0.726	GT:AD:DP:GQ:PL	0/1:179,227:406:99:5949,0,4408	20	0	1	0
chr1	13306208	13306208	T	G	exonic	PRAMEF33	.	nonsynonymous SNV	PRAMEF33:NM_001291381:exon2:c.T254G:p.L85R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.663e-05	1.987e-05	1.796e-05	1.527e-05	0.0004	1.089e-05	9.3e-06	0.0003	0.0002	0.0004	6.144e-05	0	0	0	0.0003	5.878e-06	0	0	1.33e-05	1.317e-05	0	2.726e-05	2.449e-05	2.21e-06	8.3e-07	.	.	2.449e-05	0	0	0	0	0	0	1.483e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14567018	0.27629	T	.	.	.	.	.	.	.	.	.	0.7256550213199024	0.72509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09290322	0.21806	0.20804475	0.45089	0.09290322	0.21805	0.20804475	0.45088	-10.089	0.74443	D	.	.	0.406	0.59882	A	.	.	2.406702	0.30930	18.59	0.4805054856625437	0.03978	0.02018	0.06063	N	AEFI	.	.	.	.	.	.	.	.	.	1.57396280656373E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.041921	0.02065	0.856	0.856	0.18156	0.398000	0.20624	0.611000	0.20031	0.410000	0.20643	0.001000	0.13787	0.001000	0.17328	0.008000	0.08271	0.0:0.0:0.0:1.0	3.996	0.09048	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	344.98	34	chr1	13306208	.	T	G	344.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.203e+00;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=33.11;MQRankSum=0.00;QD=5.75;ReadPosRankSum=0.408;SOR=0.582	GT:AD:DP:GQ:PL	0/1:40,20:60:99:359,0,1011	20	0	1	0
chr1	13342607	13342607	C	T	exonic	PRAMEF14	.	nonsynonymous SNV	PRAMEF14:NM_001024661:exon4:c.G1346A:p.R449K,	.	.	503	1001	17	1	0	19	0.00940129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	0.802	P	0.423	B	0.112	N	1.000	N	1.565	L	0.99	T	-0.932	T	0.079	T	0.083	-0.367	2.272	-3.38	-2.549	-2.228	0.115	0.048	0.00109974540678	.	.	0.0019	0	0.0011	0	0	0.0009	0	0.0085	3.84e-05	1	26028	rs1324541849	0.0003	0.0003	0.0002	0.0004	0.0053	0.0003	0.0003	0.0036	0.0030	2.995e-05	0.0002	0	0	0	0.0053	0.0001	0.0006	0.0029	0.0003	0.0003	0.0002	0.0004	0.0021	0.0002	0.0002	0.0012	0.0009	0	0	0.0009	0	0	0	0	0.0003	0.0010	0.0021	0.626	0.05214	T	0.71	0.05525	T	.	.	.	.	.	.	0.111987	0.02648	N	1.865810	1	0.08975	N	.	.	.	0.99	0.41750	T	-0.73	0.20576	N	0.136	0.13341	-0.9325	0.43770	T	0.079	0.31375	T	10	0.009587437	0.00216	T	0.004777	0.11941	T	0.134	0.36365	.	.	0.262679179196	0.25893	0.2802771960510292	0.27940	2.37714289507	0.96994	.	.	.	.	.	.	-0.351935	0.04606	T	-0.743307	0.03752	T	0.0367927106218515	0.03119	T	0.49835	0.15517	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.33868	B	.	.	0.099966	0.05017	1.569	0.83514178786859039	0.14768	0.00111	0.00708	N	AEFI	0.023594	0.01336	N	-1.22802562129505	0.04598	0.2078294	-1.48912795905479	0.02433	0.1118918	3.51584852855449E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.69	-3.38	0.04577	-1.397000	0.02617	-20.000000	0.00162	0.295000	0.18837	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.3219:0.2422:0.1618:0.2741	0.115	0.00055	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	1506.98	41	chr1	13342607	.	C	T	1506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=886;ExcessHet=0.0000;FS=2.136;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.74;MQRankSum=0.837;QD=10.39;ReadPosRankSum=-6.220e-01;SOR=0.925	GT:AD:DP:GQ:PL	0/1:85,60:145:99:1521,0,2145	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	0/1:528,155:683:99:3001,0,15066	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	0/1:730,223:953:99:4044,0,19983	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	0/1:687,326:1013:99:.:.:8570,0,22209	4	0	17	0
chr1	16564112	16564112	G	A	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	382	776	360	4	0	368	0.191667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0308	.	0.2106	0.0561	0.2861	0.0502	0.2065	0.2398	0.2097	0.2357	0.0002305	6	26028	rs200783506	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0008	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.031	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.0030666888	0.00051	T	.	.	.	.	.	.	.	.	.	0.05765086588271105	0.05706	.	.	0.524779081345	0.42300	T	.	.	.	-0.62494	0.00103	T	-0.595706	0.13176	T	.	.	.	0.79772	0.47570	T	.	.	.	.	.	.	.	.	-5.516	0.42017	T	.	.	0.264	0.49845	B	.;.	.;.	0.535560	0.09040	5.825	0.31427375372166372	0.01770	0.01195	0.04267	N	AEFDBHCI	0.026313	0.01952	N	.	.	.	.	.	.	5.56753264327555E-4	0.07304	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	0.566	0.16501	-1.612000	0.02163	-12.383000	0.00529	-0.617000	0.04568	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	19191.79	994	chr1	16564112	.	G	A	19191.79	.	AC=13;AF=0.325;AN=40;BaseQRankSum=1.44;DP=16699;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.325;MQ=55.13;MQRankSum=4.65;QD=1.72;ReadPosRankSum=0.230;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:897,104:1001:99:.:.:228,0,33835	7	0	13	1
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4762	99791.4	773	chr1	16564144	.	C	T	99791.4	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.121e+00;DP=14037;ExcessHet=43.6797;FS=0.578;InbreedingCoeff=-0.9210;MLEAC=20;MLEAF=0.476;MQ=53.77;MQRankSum=-1.899e+01;QD=7.70;ReadPosRankSum=0.116;SOR=0.802	GT:AD:DP:GQ:PL	0/1:483,318:801:99:7991,0,17716	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	0/1:422,357:779:99:9006,0,15060	1	0	20	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6554.32	70	chr1	16579293	.	A	G	6554.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=1.87;DP=1441;ExcessHet=36.0830;FS=139.268;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=35.97;MQRankSum=0.877;QD=5.04;ReadPosRankSum=-7.480e-01;SOR=8.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,18:111:99:0|1:16579293_A_G:476,0,3834:16579293	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|1:93,18:111:99:0|1:16579293_A_G:476,0,3834:16579293	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	0/1:94,12:106:99:.:.:170,0,2897	3	0	18	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	0/1:82,39:121:99:1018,0,2528	2	7	12	0
chr1	16760446	16760446	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.G383A:p.R128H,	.	.	392	526	598	0	6	604	0.362424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.001	D	.	.	.	.	.	.	-0.445	T	0.276	T	0.209	2.959	15.86	.	0.502	5.217	6.740	0.397	.	.	0.181909	0.2202	0.1841	0.2823	0.2424	0.2980	0.2226	0.2165	0.1673	0.0075808	1172	154602	rs28462251	1.288e-05	8.414e-05	1.139e-05	1.438e-05	8.359e-05	8.05e-06	6.64e-06	3.866e-05	2.726e-05	0	0	0	2.565e-05	9.971e-05	0	3.769e-06	1.724e-05	8.359e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	0.0001	9.611e-05	7.423e-05	0.0002	0	0	0	0	0.0009	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.1905	3282.72	39	chr1	16760446	.	C	T	3282.72	.	AC=8;AF=0.190;AN=42;BaseQRankSum=2.49;DP=5013;ExcessHet=3.5521;FS=14.600;InbreedingCoeff=-0.2395;MLEAC=8;MLEAF=0.190;MQ=45.78;MQRankSum=-1.759e+00;QD=1.55;ReadPosRankSum=-3.770e-01;SOR=2.106	GT:AD:DP:GQ:PL	0/1:332,57:389:99:696,0,9333	13	0	8	0
chr1	17363589	17363589	G	A	exonic	PADI4	.	nonsynonymous SNV	PADI4:NM_012387:exon16:c.G1826A:p.R609H,	.	.	0	225	1	0	0	1	0.00221729	.	.	3367569	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.021	B	0.007	B	0.733	N	1.000	N	1.69	L	1.73	T	-0.961	T	0.059	T	0.092	1.755	11.83	-3.63	-0.506	0.022	11.915	0.079	0.00591448717211	7.7e-05	.	4.268e-05	0	0.0003	0	0	3.093e-05	0	0	4.53e-05	7	154602	rs201235053	8.483e-05	8.482e-05	9.801e-05	7.151e-05	0.0007	7.209e-05	6.797e-05	0.0002	0.0001	5.974e-05	0.0001	0	2.519e-05	0	0.0007	9.353e-05	0.0001	0	0.0001	0.0001	0.0001	8.054e-05	0.0003	6.505e-05	5.317e-05	0.0001	8.277e-05	7.213e-05	0	0.0003	0	0	0	0	0.0001	0.0005	0	0.06	0.37326	T	0.131	0.34596	T	0.021	0.18474	B	0.007	0.12992	B	0.732957	0.06381	N	1.116950	1.000	0.19694	N	1.44	0.36004	L	1.73	0.26445	T	-2.22	0.49846	N	0.075	0.04913	-0.9614	0.38916	T	0.059	0.24871	T	10	0.11791366	0.22281	T	0.005914	0.15400	T	0.079	0.23065	.	.	0.144782658237	0.14088	0.3787417725298875	0.37789	0.152986545687	0.17264	0.207958370447	0.00727	T	0.086969	0.37840	T	-0.45131	0.01110	T	-0.694369	0.06139	T	0.801372349262238	0.46447	D	.	.	.	0.06467212	0.13746	0.08497663	0.19589	0.06467212	0.13746	0.08497663	0.19589	-6.529	0.50510	T	.	.	0.072	0.04277	B	.	.	1.546974	0.19829	14.46	0.95602040289707269	0.27341	0.08692	0.14585	N	AEFBI	0.087772	0.17797	N	-1.06740516472559	0.07250	0.3362398	-1.07089077538673	0.08278	0.4062791	0.946856430729388	0.27726	0.549168	0.22868	0	0.627178	0.54094	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	5.03	-3.63	0.04238	-0.057000	0.11726	-1.897000	0.04533	-0.681000	0.04224	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.6223:0.0:0.3777:0.0	11.915	0.52041	668	0.61153	Protein-arginine deiminase, 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	1412.98	33	chr1	17363589	.	G	A	1412.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.998;DP=821;ExcessHet=0.0000;FS=0.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=1.33;SOR=0.772	GT:AD:DP:GQ:PL	0/1:62,58:120:99:1427,0,1394	20	0	1	0
chr1	21815996	21815996	C	T	exonic	LDLRAD2	.	nonsynonymous SNV	LDLRAD2:NM_001013693:exon3:c.C565T:p.L189F,	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	1.0	D	0.999	D	0.011	N	0.999	D	1.13	L	-3.83	D	0.822	D	0.869	D	0.625	4.648	25.5	5.07	2.371	3.430	15.940	0.584	0.243663953375	.	.	0.0001	0	0	0	0	1.502e-05	0	0.0008	9.06e-05	14	154602	rs777517377	8.757e-05	8.756e-05	7.76e-05	9.765e-05	0.0006	7.489e-05	7.036e-05	0.0005	0.0005	0	0	0	0	0	0	6.475e-05	0	0.0006	5.256e-05	5.253e-05	5.138e-05	5.379e-05	0.0006	2.557e-05	1.83e-05	0.0002	8.996e-05	2.412e-05	0	0	0	0	0	0	5.879e-05	0	0.0006	0.008	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.010853	0.29760	N	0.133080	0.999201	0.46326	D	0.91	0.23283	L	-3.83	0.95794	D	-3.62	0.69593	D	0.691	0.69649	0.822	0.94685	D	0.869	0.95657	D	10	0.662436	0.70232	D	0.243664	0.88812	D	0.584	0.83305	.	.	0.823997167059	0.82232	0.404867559417125	0.40402	1.12549069196	0.78439	0.556060671806	0.46712	T	0.595806	0.86973	D	-0.0458532	0.45074	T	0.0674441	0.74739	D	0.587179243564606	0.35895	D	0.772923	0.40417	T	0.3295802	0.55436	0.3582099	0.61301	0.3295802	0.55436	0.3582099	0.61300	-11.108	0.80247	D	.	.	0.518	0.65439	A	.;.	.;.	4.116880	0.61501	24.3	0.99896815728012323	0.96971	0.81218	0.40668	D	ALL	0.504135	0.53582	D	0.471589225110718	0.65439	4.822536	0.47431050882098	0.66292	4.933192	1.0	0.98316	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.466023	0.07079	0	.	.	5.07	5.07	0.68106	3.443000	0.52671	2.260000	0.31754	0.566000	0.28629	1.000000	0.71638	1.000000	0.68203	0.816000	0.38450	0.0:1.0:0.0:0.0	15.940	0.79533	862	0.33134	.;.	.	.	.	.	.	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	2092.98	33	chr1	21815996	.	C	T	2092.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.468;DP=781;ExcessHet=0.0000;FS=1.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.12;ReadPosRankSum=1.82;SOR=0.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,54:104:99:0|1:21815996_C_T:2107,0,1929:21815996	20	0	1	0
chr1	21815997	21815997	T	C	exonic	LDLRAD2	.	nonsynonymous SNV	LDLRAD2:NM_001013693:exon3:c.T566C:p.L189P,	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	1.0	D	0.011	N	1.000	D	2.935	M	-3.88	D	1.024	D	0.926	D	0.936	4.136	21.4	5.07	1.921	6.245	12.782	0.874	0.751687017201	.	.	0.0001	0	0	0	0	1.502e-05	0	0.0008	9.06e-05	14	154602	rs749119806	4.037e-05	4.036e-05	1.906e-05	6.189e-05	0.0006	3.179e-05	2.911e-05	0.0005	0.0005	0	0	0	0	0	0	2.698e-06	0	0.0006	1.972e-05	1.97e-05	0	4.035e-05	0.0006	5.24e-06	2.45e-06	0.0002	9e-05	0	0	0	0	0	0	0	0	0	0.0006	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.010853	0.29760	N	0.133080	1	0.81001	D	2.7	0.79018	M	-3.88	0.95953	D	-6.12	0.90060	D	0.902	0.90251	1.024	0.97612	D	0.926	0.97551	D	10	0.89245737	0.88591	D	0.751687	0.98021	D	0.874	0.96243	0.681	0.81885	0.828546122127	0.82692	0.8338914825408209	0.83348	1.39057706076	0.84979	0.65325319767	0.60448	T	0.772768	0.93931	D	0.247869	0.78402	D	0.489356	0.94389	D	0.790953814983368	0.45752	D	0.786621	0.42528	T	0.823486	0.85456	0.8175054	0.89379	0.823486	0.85457	0.8175054	0.89379	-15.315	0.96548	D	.	.	0.854	0.79975	P	.;.	.;.	4.742968	0.76508	26.5	0.99903407099567165	0.97502	0.88256	0.48102	D	ALL	0.882768	0.81114	D	0.721733896458415	0.81057	7.433976	0.651954064785729	0.78754	6.940824	0.999999999999997	0.74766	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.466023	0.07079	0	.	.	5.07	5.07	0.68106	6.178000	0.71900	5.522000	0.48825	0.628000	0.51840	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	0.0:0.0:0.0:1.0	12.782	0.56859	862	0.33134	.;.	.	.	.	.	.	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	2092.98	33	chr1	21815997	.	T	C	2092.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.220e-01;DP=782;ExcessHet=0.0000;FS=1.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.12;ReadPosRankSum=1.69;SOR=0.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,54:104:99:0|1:21815996_C_T:2107,0,1929:21815996	20	0	1	0
chr1	21887542	21887542	G	C	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon8:c.C836G:p.S279C	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.291	B	0.125	B	0.294	N	1.000	N	0	N	-1.07	T	-0.928	T	0.184	T	0.277	3.384	17.42	-4.2	-0.703	0.372	2.532	0.023	0.00708634771788	.	0.00119808	0.0004	0	8.646e-05	0	0	1.506e-05	0	0.0028	0.0003558	55	154602	rs543074067	0.0001	0.0001	7.896e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	2.987e-05	0	0	0	0	0	2.698e-06	8.28e-05	0.0023	9.189e-05	9.185e-05	7.706e-05	0.0001	0.0027	5.522e-05	4.36e-05	0.0016	0.0013	0	0	6.532e-05	0	0	0	0	0	0	0.0027	0.095	0.31235	T	0.108	0.37589	T	0.291	0.32334	B	0.125	0.32635	B	0.294218	0.03913	N	1.705140	1	0.08975	N	0.69	0.16971	N	-1.07	0.76948	T	-1.69	0.40274	N	0.138	0.13626	-0.9285	0.44357	T	0.184	0.53331	T	10	0.0050875545	0.00110	T	0.007086	0.18786	T	0.231	0.53208	0.244	0.17830	0.345632371893	0.34166	0.5298467892543957	0.52908	0.238695002542	0.26421	0.3270650208	0.14491	T	0.338502	0.70776	T	-0.569033	0.00224	T	-0.595391	0.13202	T	0.0506783066247883	0.05619	T	0.306169	0.05876	T	0.07412419	0.16611	0.048909612	0.07364	0.07412419	0.16611	0.048909612	0.07364	-8.125	0.61919	D	.	.	0.161	0.35540	B	.	.	0.769024	0.11391	8.002	0.96533053344051234	0.30158	0.17447	0.19841	N	AEFDBHCI	0.078711	0.15886	N	-1.26382795244027	0.04120	0.1853376	-1.33679535882578	0.03964	0.1860092	0.999740697900443	0.42466	0.67177	0.52595	0	0.588066	0.40923	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.09	-4.2	0.03562	0.965000	0.28916	0.016000	0.13516	-0.120000	0.14102	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.4583:0.1124:0.3056:0.1237	2.532	0.04419	775	0.48401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2384.98	35	chr1	21887542	.	G	C	2384.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=890;ExcessHet=0.0000;FS=1.485;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.71;ReadPosRankSum=0.607;SOR=0.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,62:121:99:0|1:21887542_G_C:2399,0,2291:21887542	20	0	1	0
chr1	21887543	21887543	A	T	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon8:c.T835A:p.S279T	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.01	B	0.006	B	0.294	N	1.000	N	0	N	-0.9	T	-0.995	T	0.137	T	0.158	1.332	10.37	-5.94	-1.101	-0.055	2.850	0.097	0.00840203915101	.	0.00119808	0.0004	0	8.646e-05	0	0	1.506e-05	0	0.0028	0.0003558	55	154602	rs561412593	0.0001	0.0001	7.896e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	2.987e-05	0	0	0	0	0	2.698e-06	8.28e-05	0.0023	9.191e-05	9.186e-05	7.709e-05	0.0001	0.0027	5.523e-05	4.361e-05	0.0016	0.0013	0	0	6.533e-05	0	0	0	0	0	0	0.0027	1.0	0.00964	T	1.0	0.01155	T	0.01	0.15535	B	0.006	0.12133	B	0.294218	0.03913	N	1.705140	1	0.08975	N	0.69	0.16971	N	-0.9	0.74896	T	0.8	0.01866	N	0.082	0.05799	-0.9952	0.31245	T	0.137	0.45337	T	10	0.0039900243	0.00077	T	0.008402	0.22231	T	0.097	0.27909	0.175	0.08135	0.229924730088	0.22615	0.3701783511461205	0.36931	0.181521542273	0.20404	0.324062049389	0.14036	T	0.133583	0.46435	T	-0.467337	0.00883	T	-0.449311	0.27773	T	0.0182363303172523	0.00543	T	0.245375	0.03595	T	0.035955742	0.04332	0.029822337	0.01364	0.035955742	0.04331	0.029822337	0.01364	-2.369	0.04946	T	.	.	0.073	0.04477	B	.	.	-0.570855	0.01653	0.116	0.36707807651635488	0.02376	0.10016	0.15636	N	AEFDBHCI	0.038476	0.05452	N	-1.58349856639715	0.01349	0.05877537	-1.62568045824237	0.01506	0.06820823	0.999963835953397	0.48965	0.67177	0.52595	0	0.588066	0.40923	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.09	-5.94	0.02060	0.090000	0.14865	-1.006000	0.06630	-0.776000	0.03386	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2974:0.3982:0.2009:0.1035	2.850	0.05214	775	0.48401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2384.98	35	chr1	21887543	.	A	T	2384.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.230e-01;DP=886;ExcessHet=0.0000;FS=1.485;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.71;ReadPosRankSum=0.785;SOR=0.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,62:121:99:0|1:21887542_G_C:2399,0,2291:21887542	20	0	1	0
chr1	26184449	26184449	C	A	exonic	CNKSR1	.	nonsynonymous SNV	CNKSR1:NM_001297647:exon12:c.C1070A:p.P357Q	.	.	0	1493	29	0	0	29	0.00961857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.971	D	0.548	P	0.577	N	1.000	N	0.805	L	2.73	T	-1.000	T	0.001	T	0.27	1.732	11.75	2.92	1.442	0.305	7.822	0.029	.	.	0.0339457	0.0157	0.0002	0.0007	0.0674	0	0.0005	0.0261	0.0721	0.013137	2031	154602	rs2297710	0.0072	0.0072	0.0056	0.0088	0.1002	0.0070	0.0070	0.0976	0.0965	0.0004	0.0003	3.828e-05	0.1002	5.623e-05	0.0035	0.0005	0.0078	0.0632	0.0052	0.0053	0.0038	0.0066	0.0819	0.0049	0.0048	0.0754	0.0729	7.219e-05	0	0.0005	0	0.0819	9.414e-05	0.0034	0.0004	0.0047	0.0658	0.267	0.35165	T	0.404	0.15157	T	0.971	0.57185	D	0.548	0.49136	P	0.577300	0.11178	N	0.807701	1	0.08975	N	2.52	0.73523	M	2.73	0.11839	T	-1.57	0.38345	N	0.072	0.05670	-1.0001	0.29888	T	0.001	0.00318	T	10	0.0023334324	0.00034	T	.	.	.	0.029	0.06676	.	.	.	.	0.4508199315232557	0.44999	0.4776242743	0.46872	0.362264126539	0.19716	T	0.020519	0.16142	T	-0.567208	0.00230	T	-0.53648	0.18643	T	0.0334743172741431	0.02549	T	0.541546	0.18382	T	0.037506957	0.04821	0.050522495	0.07946	0.037506957	0.04821	0.050522495	0.07946	-4.702	0.33428	T	.	.	0.094	0.14293	B	.;.;.	.;.;.	1.860913	0.23640	16.09	0.72990578385387084	0.10168	0.05735	0.11661	N	AEFDBI	0.048965	0.08410	N	-0.363017886859758	0.26798	1.465253	-0.464974973711878	0.23125	1.259522	0.808690635076044	0.24316	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.92	2.92	0.32998	0.504000	0.22335	0.595000	0.19862	0.594000	0.32500	0.079000	0.22314	0.007000	0.19602	0.041000	0.14368	0.1613:0.749:0.0:0.0896	7.822	0.28456	414	0.81871	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2235.11	38	chr1	26184449	.	C	A	2235.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.248e+00;DP=866;ExcessHet=0.1072;FS=2.043;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=1.95;SOR=0.896	GT:AD:DP:GQ:PL	0/1:36,37:73:99:1043,0,1060	19	0	2	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	33415.17	33	chr1	26282323	.	A	G,*	33415.17	.	AC=30,8;AF=0.714,0.190;AN=42;BaseQRankSum=0.532;DP=976;ExcessHet=0.6776;FS=0.923;InbreedingCoeff=-0.1053;MLEAC=30,8;MLEAF=0.714,0.190;MQ=60.00;MQRankSum=0.00;QD=31.59;ReadPosRankSum=-6.110e-01;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,40,7:47:99:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:2087,264,131,1690,0,1658:26282320	0	9	4	0
chr1	26282334	26282341	TGGGGCCG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	9122.57	35	chr1	26282334	.	TGGGGCCG	*,T	9122.57	.	AC=3,13;AF=0.071,0.310;AN=42;BaseQRankSum=0.857;DP=1017;ExcessHet=1.5101;FS=6.482;InbreedingCoeff=-0.0096;MLEAC=3,13;MLEAF=0.071,0.310;MQ=60.00;MQRankSum=0.00;QD=14.23;ReadPosRankSum=-6.330e-01;SOR=1.134	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:36,7,14:57:99:0|1:26282334_TGGGGCCG_*:465,327,1826,0,1209,1405:26282334	8	0	0	0
chr1	26282344	26282361	ACCGGGACCGGGACTGGG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	9155.21	37	chr1	26282344	.	ACCGGGACCGGGACTGGG	*,A	9155.21	.	AC=3,13;AF=0.071,0.310;AN=42;BaseQRankSum=1.27;DP=1066;ExcessHet=1.5101;FS=6.447;InbreedingCoeff=-0.0096;MLEAC=3,13;MLEAF=0.071,0.310;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-2.630e-01;SOR=1.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:38,7,14:59:99:0|1:26282334_TGGGGCCG_*:459,327,1910,0,1302,1501:26282334	8	0	0	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	11163.93	50	chr1	26282357	.	CTGGGGCCGGG	C,*	11163.93	.	AC=10,16;AF=0.238,0.381;AN=42;BaseQRankSum=0.187;DP=1169;ExcessHet=10.5502;FS=6.433;InbreedingCoeff=-0.4135;MLEAC=10,16;MLEAF=0.238,0.381;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.857;SOR=1.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:38,0,14:59:99:0|1:26282334_TGGGGCCG_*:459,576,2150,0,1551,1501:26282334	1	0	7	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14396.36	49	chr1	26282374	.	ACC	*,A	14396.36	.	AC=10,12;AF=0.294,0.353;AN=34;BaseQRankSum=-8.440e-01;DP=1160;ExcessHet=1.0911;FS=8.398;InbreedingCoeff=-0.1667;MLEAC=11,13;MLEAF=0.324,0.382;MQ=60.00;MQRankSum=0.00;QD=16.49;ReadPosRankSum=0.737;SOR=0.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:16,7,40:63:99:0|1:26282374_ACC_*:1573,1374,2044,0,414,587:26282374	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|1:21,39,0:67:99:0|1:26282374_ACC_*:1531,0,813,1603,887,2485:26282374	1	1	5	4
chr1	26950113	26950113	C	T	exonic	KDF1	.	nonsynonymous SNV	KDF1:NM_152365:exon4:c.G1153A:p.D385N,	.	.	417	1104	1	0	0	1	0.000452694	.	.	2812533	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.938	P	0.381	B	0.002	N	0.995	D	0	N	1.82	T	-1.053	T	0.038	T	0.065	3.856	19.59	4.29	2.374	5.083	15.453	0.136	.	.	0.00179712	0.0013	0	8.642e-05	0.0005	0	0.0002	0.0166	0.0078	0.0011125	172	154602	rs200294153	0.0006	0.0006	0.0004	0.0008	0.0066	0.0005	0.0005	0.0062	0.0060	0.0001	0.0001	0	0.0001	5.618e-05	0.0002	0.0002	0.0009	0.0066	0.0003	0.0003	0.0002	0.0004	0.0062	0.0002	0.0002	0.0045	0.0039	2.41e-05	0	0.0003	0	0.0002	9.427e-05	0	0.0001	0.0014	0.0062	0.009	0.57480	D	0.175	0.29945	T	0.938	0.52538	P	0.381	0.43873	B	0.001927	0.37643	N	0.221180	0.994755	0.42403	D	0.345	0.11182	N	1.82	0.25018	T	-0.6	0.17834	N	0.257	0.29081	-1.0531	0.13547	T	0.038	0.16505	T	10	0.0061792433	0.00139	T	.	.	.	0.136	0.36778	.	.	0.44318313171	0.43938	0.11829594024671028	0.11756	0.728754840665	0.62623	.	.	.	0.017337	0.14159	T	-0.590434	0.00167	T	-0.616189	0.11487	T	0.078145671021445	0.09748	T	0.889511	0.62170	D	0.11852192	0.27923	0.09312866	0.21983	0.11852192	0.27922	0.09312866	0.21982	-5.867	0.45153	T	0.12737852908203734	0.13031	0.234	0.46677	B	.	.	4.680295	0.74895	26.2	0.9986435496354773	0.94276	0.95612	0.65420	D	AEFDGBHCI	0.621487	0.60616	D	0.263296976739034	0.54298	3.595862	0.346731951330618	0.58311	4.00091	0.999999999876094	0.74766	0.615755	0.39536	0	0.550933	0.16991	0	0.606735	0.37207	0	0.526803	0.08958	0	.	.	4.29	4.29	0.50359	5.099000	0.64388	7.633000	0.62825	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.453	0.75013	590	0.68897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	933.98	34	chr1	26950113	.	C	T	933.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=767;ExcessHet=0.0000;FS=5.918;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=2.01;SOR=0.560	GT:AD:DP:GQ:PL	0/1:39,39:78:99:948,0,839	20	0	1	0
chr1	31698593	31698593	G	A	exonic	COL16A1	.	nonsynonymous SNV	COL16A1:NM_001856:exon5:c.C280T:p.R94W,	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.919	D	0.128	N	0.773	N	0.805	L	0.86	T	-0.926	T	0.141	T	0.313	2.929	15.76	2.63	1.308	1.910	4.863	0.100	0.019165365431	0.0005	0.000599042	0.0006	0	8.642e-05	0	0	0.0003	0.0022	0.0028	0.0005304	82	154602	rs200748512	0.0003	0.0003	0.0002	0.0004	0.0025	0.0003	0.0003	0.0022	0.0021	0	0.0002	0	0	1.875e-05	0.0019	0.0002	0.0004	0.0025	0.0003	0.0003	0.0003	0.0003	0.0019	0.0002	0.0002	0.0010	0.0007	0	0	0.0001	0.0003	0	0	0.0034	0.0004	0.0009	0.0019	0.007	0.65419	D	0.018	0.59732	D	0.946	0.90584	P	0.249	0.65474	B	0.128400	0.18733	N	0.540649	0.772889	0.29417	N	2.215	0.62545	M	0.86	0.46777	T	-0.76	0.41428	N	0.341	0.38232	-0.9256	0.44772	T	0.141	0.46016	T	10	0.01284343	0.00274	T	0.019165	0.41459	T	0.100	0.28662	.	.	0.704265654962	0.70169	0.4554869626449398	0.45466	0.162664460996	0.18353	0.330806970596	0.15056	T	0.014736	0.22098	T	-0.444874	0.01210	T	-0.41611	0.31522	T	0.0722769031621973	0.08967	T	0.864814	0.65471	D	0.069721766	0.15299	0.042591535	0.05107	0.069721766	0.15298	0.042591535	0.05107	-6.996	0.54005	T	.	.	0.087	0.15609	B	.;.	.;.	3.940989	0.57670	23.9	0.99533819029055726	0.70025	0.54101	0.29533	D	AEFDGBI	0.497883	0.53222	N	0.077855934744074	0.45430	2.799754	0.0578778142547069	0.42455	2.568	0.999387921987134	0.39415	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.69	2.63	0.30420	2.132000	0.41706	3.726000	0.39602	0.676000	0.76740	0.403000	0.26194	0.777000	0.26748	0.976000	0.56436	0.0866:0.15:0.609:0.1544	4.863	0.12953	717	0.55835	Laminin G domain;Laminin G domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1089.98	41	chr1	31698593	.	G	A	1089.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.605;DP=818;ExcessHet=0.0000;FS=0.731;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.56;ReadPosRankSum=-2.387e+00;SOR=0.779	GT:AD:DP:GQ:PL	0/1:70,44:114:99:1104,0,1904	20	0	1	0
chr1	35187226	35187226	C	A	exonic	SFPQ	.	nonsynonymous SNV	SFPQ:NM_005066:exon8:c.G1841T:p.G614V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.994	D	0.723	P	0.001	N	1.000	D	0.895	L	1.87	T	-1.095	T	0.076	T	0.639	2.924	15.74	4.09	1.544	1.914	15.482	0.188	0.0113750931162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.63918	D	0.994	0.66517	D	0.723	0.54990	P	0.001167	0.39978	N	0.278938	1	0.81001	D	1.04	0.26193	L	1.87	0.24085	T	-1.19	0.30346	N	0.651	0.66187	-1.0951	0.04738	T	0.076	0.30397	T	10	0.6904533	0.71823	D	0.011375	0.28926	T	0.188	0.46444	0.36	0.36385	0.77976479729	0.77773	0.5176702477874561	0.51690	1.98220839654	0.93655	0.687163591385	0.65298	T	0.060462	0.31393	T	-0.0498942	0.44464	T	-0.309446	0.43718	T	0.530140340328217	0.33739	D	0.890711	0.62461	D	0.30386326	0.53249	0.2817758	0.54162	0.30386326	0.53249	0.2817758	0.54161	-7.16	0.55193	T	.	.	0.178	0.38853	B	.	.	3.641061	0.51624	23.1	0.99566702922185157	0.72136	0.96694	0.70442	D	AEFBHCI	0.372062	0.45784	N	0.135481567704648	0.48125	3.028823	0.178075620799577	0.48647	3.078	0.999998622859913	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	6.03	4.09	0.47038	1.164000	0.31420	4.679000	0.44312	-0.217000	0.08171	0.937000	0.32526	1.000000	0.68203	0.865000	0.41091	0.0:0.7397:0.2603:0.0	15.482	0.75271	847	0.35998	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1141.98	35	chr1	35187226	.	C	A	1141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.054e+00;DP=832;ExcessHet=0.0000;FS=1.457;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.28;ReadPosRankSum=-1.610e-01;SOR=0.867	GT:AD:DP:GQ:PL	0/1:71,52:123:99:1156,0,1788	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	1/1:0,16,0:16:48:.:.:508,48,0,508,48,508	0	12	8	0
chr1	44138745	44138745	G	T	exonic	KLF18	.	nonsynonymous SNV	KLF18:NM_001358438:exon1:c.C2887A:p.P963T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1413909882	2.03e-05	1.59e-05	3.292e-05	8.012e-06	0.0007	7.94e-06	4.32e-06	0.0001	4.803e-05	0	0	0	0	0	0	1.265e-05	6.109e-05	0.0007	2.628e-05	2.627e-05	2.569e-05	2.69e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.985e-05	0	0	6.545e-05	0	0	0	0	0	0	0.0006	.	.	.	0.047	0.48855	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.18103	.	.	.	.	.	.	.	0.08279228	0.13702	T	.	.	.	.	.	.	.	.	.	0.191906140595156	0.19108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49875	0.15541	T	0.044249713	0.07040	0.10886582	0.26231	0.044249713	0.07040	0.10886582	0.26231	-4.765	0.34180	T	.	.	0.518	0.65399	A	.	.	0.047161	0.04616	1.283	0.71542951334962157	0.09664	0.23433	0.22074	N	AEFBI	.	.	.	.	.	.	.	.	.	2.52628760875127E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0443366	0.03230	3.94	-1.75	0.07598	0.078000	0.14615	-0.348000	0.09765	0.618000	0.50648	0.140000	0.23505	0.000000	0.08366	0.025000	0.12405	0.3315:0.1606:0.3249:0.1829	0.559	0.00632	220	0.91454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1202.98	33	chr1	44138745	.	G	T	1202.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.705e+00;DP=807;ExcessHet=0.0000;FS=1.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=-1.760e+00;SOR=0.495	GT:AD:DP:GQ:PL	0/1:47,46:93:99:1217,0,1375	20	0	1	0
chr1	45602338	45602338	A	G	exonic	NASP	.	nonsynonymous SNV	NASP:NM_002482:exon3:c.A191G:p.N64S	.	.	.	.	.	.	.	.	.	.	.	3447959	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.782	P	0.327	B	0.000	D	1.000	D	1.055	L	-3.35	D	0.494	D	0.669	D	0.139	3.278	17.01	5.65	2.161	3.730	11.819	0.420	0.0832691411899	7.7e-05	0.000399361	0.0001	9.638e-05	0	0.0001	0	0.0001	0.0033	0.0001	0.0001035	16	154602	rs201781475	9.717e-05	9.713e-05	9.532e-05	9.904e-05	0.0002	8.379e-05	7.918e-05	8.215e-05	7.635e-05	0	0.0001	3.83e-05	7.562e-05	0	0.0002	9.715e-05	0.0003	6.956e-05	5.909e-05	5.905e-05	6.424e-05	5.37e-05	0.0002	3.075e-05	2.208e-05	3.762e-05	2.575e-05	2.405e-05	0	0	0	0.0002	0	0	8.82e-05	0.0005	0	0.304	0.23905	T	0.246	0.34837	T	0.675	0.41275	P	0.175	0.35598	B	0.000045	0.53742	D	0.191919	0.946174	0.81001	D	1.295	0.32453	L	-3.35	0.94022	D	-1.92	0.49846	N	0.272	0.34659	0.494	0.90458	D	0.669	0.88508	D	10	0.19431841	0.35237	T	0.083269	0.74079	D	0.420	0.72930	.	.	0.936092098758	0.93543	0.07479682284608008	0.07415	0.219448234896	0.24485	0.671316444874	0.63025	T	0.321386	0.69249	T	-0.148945	0.28476	T	-0.192046	0.55397	T	0.027324203401804	0.01590	T	0.90021	0.65830	D	0.105804905	0.25018	0.11118234	0.26817	0.105804905	0.25018	0.11118234	0.26816	-7.255	0.55875	T	.	.	0.089	0.31882	B	.;.;.;.;.	.;.;.;.;.	3.651098	0.51821	23.2	0.99808901413959539	0.89264	0.75736	0.37097	D	AEFDGBCIJ	0.338257	0.43579	N	0.193275900769096	0.50876	3.273549	0.327365159230845	0.57153	3.880197	0.999997933070837	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.645665	0.59343	0	.	.	5.65	5.65	0.86881	3.724000	0.54690	10.643000	0.83517	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8537:0.1462:0.0:0.0	11.819	0.51500	201	0.92177	Tetratricopeptide repeat-containing domain;.;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1811.98	33	chr1	45602338	.	A	G	1811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.210e-01;DP=857;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=-1.550e-01;SOR=0.648	GT:AD:DP:GQ:PL	0/1:93,77:170:99:1826,0,2328	20	0	1	0
chr1	46035072	46035072	G	T	exonic	MAST2	.	nonsynonymous SNV	MAST2:NM_001319245:exon29:c.G4400T:p.G1467V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.905	P	0.003	N	1.000	D	0.975	L	-0.16	T	-0.447	T	0.305	T	0.652	2.779	15.26	2.83	1.341	4.012	11.514	0.193	0.0373627508977	.	.	7.646e-05	0	0	0	0	6.179e-05	0.0034	0.0001	5.82e-05	9	154602	rs3737737	5.269e-05	5.267e-05	4.357e-05	6.19e-05	5.756e-05	4.279e-05	3.954e-05	4.612e-05	4.197e-05	0	0	0	0	0	0	5.756e-05	0.0002	3.478e-05	6.57e-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	0.001	0.78490	D	0.006	0.70582	D	0.995	0.67487	D	0.593	0.50536	P	0.002580	0.36316	N	0.222658	0.999999	0.81001	D	2.57	0.75187	M	-0.16	0.65378	T	-2.21	0.49684	N	0.497	0.53006	-0.4469	0.70502	T	0.305	0.67593	T	10	0.4219395	0.56922	T	0.037363	0.57572	D	0.193	0.47281	0.159	0.06287	0.847962216055	0.84650	0.17234931617036456	0.17154	0.83008999717	0.67584	0.607342362404	0.53940	T	0.020479	0.16118	T	-0.0267274	0.47890	T	-0.0725686	0.65443	T	0.166375330918714	0.18329	T	0.858914	0.54988	D	0.19908237	0.41834	0.24040319	0.49413	0.19908237	0.41834	0.24040319	0.49412	-4.319	0.28442	T	.	.	0.139	0.30397	B	.	.	3.762998	0.53999	23.4	0.99499605745659014	0.67973	0.91722	0.54125	D	AEFDBHCI	0.518607	0.54424	D	0.243458496471999	0.53315	3.501036	0.203666810095642	0.50049	3.201211	0.999999570681847	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.779548	0.98927	0	0.711	0.71501	0	.	.	4.71	2.83	0.32150	3.442000	0.52663	6.300000	0.55412	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.520000	0.29475	0.1547:0.0:0.8453:0.0	11.514	0.49757	80	0.96670	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	5548.43	34	chr1	46035072	.	G	C,T	5548.43	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=0.064;DP=1182;ExcessHet=0.3300;FS=1.729;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=0.377;SOR=0.578	GT:AD:DP:GQ:PL	0/2:71,0,72:143:99:2001,2214,4342,0,2128,1911	18	0	2	0
chr1	47067668	47067668	G	T	splicing	CYP4Z1	NM_178134:exon1:c.177+1G>T	.	.	.	.	431	1088	3	0	0	3	0.00137678	1.0000	0.758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	.	.	.	.	.	.	.	.	.	0.864	8.500	3.1	1.555	2.749	9.558	.	.	.	0.0103834	0.0056	0	0.0002	0.0001	0	1.512e-05	0.0011	0.0435	0.0047865	740	154602	rs548967488	0.0024	0.0025	0.0013	0.0035	0.0389	0.0023	0.0023	0.0378	0.0373	6.081e-05	4.646e-05	0	5.089e-05	0	0.0011	3.545e-05	0.0027	0.0389	0.0014	0.0014	0.0008	0.0020	0.0420	0.0012	0.0012	0.0373	0.0354	4.816e-05	0	0.0003	0	0	0	0	1.47e-05	0.0005	0.0420	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999169	0.46223	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.633668	0.00091	T	-0.652297	0.08794	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.282352	0.65240	24.8	0.89911069587070203	0.19211	0.55140	0.29790	D	AEFBI	.	.	.	0.513817084803782	0.67908	5.144661	0.184817757327726	0.49015	3.109891	6.115606745523E-5	0.04366	0.06567	0.01388	0	0.063388	0.01293	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0857639	0.19525	3.1	3.1	0.34780	2.760000	0.47262	0.094000	0.14556	0.487000	0.22268	0.898000	0.31380	0.000000	0.08366	0.046000	0.14843	0.0:0.0:1.0:0.0	9.558	0.38518	441	0.80015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1302.98	35	chr1	47067668	.	G	T	1302.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.164;DP=816;ExcessHet=0.0000;FS=3.434;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=0.123;SOR=0.422	GT:AD:DP:GQ:PL	0/1:64,53:117:99:1317,0,1658	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	1|1:0,37,0:37:99:1|1:50419101_CCGGCGG_C:1523,111,0,1523,111,1523:50419101	0	2	0	0
chr1	52238879	52238879	G	T	exonic	ZFYVE9	.	nonsynonymous SNV	ZFYVE9:NM_004799:exon4:c.G1462T:p.V488F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.96	D	0.504	P	0.079	N	0.850	D	0.805	L	0.66	T	-0.847	T	0.133	T	0.325	2.174	13.23	2.26	0.734	1.553	8.669	0.116	0.0357224421694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.568e-06	6.562e-06	0	1.343e-05	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.001	0.78490	D	0.169	0.30534	T	0.933	0.55278	P	0.307	0.47761	B	0.079388	0.20987	N	0.376195	0.849958	0.35205	D	0.975	0.24501	L	0.66	0.54540	T	-2.07	0.47344	N	0.212	0.37613	-0.8467	0.52195	T	0.133	0.44524	T	10	0.16734391	0.31224	T	0.035722	0.56534	D	0.116	0.32463	0.072	0.00442	0.0675242888579	0.06100	0.3204716920825338	0.31960	0.3725497707	0.38744	0.445590794086	0.31342	T	0.010362	0.09360	T	-0.0747307	0.40567	T	-0.345122	0.39764	T	0.582549247169905	0.35717	D	0.885811	0.61165	D	0.17589852	0.38474	0.15219906	0.35819	0.17589852	0.38473	0.15219906	0.35819	-3.995	0.23729	T	.	.	0.068	0.19679	B	.;.;.	.;.;.	2.443070	0.31445	18.74	0.992707790190826	0.57559	0.56401	0.30107	D	AEFDGBCIJ	0.112885	0.22296	N	-0.127336797398299	0.36205	2.089604	-0.0540156029105646	0.37317	2.18331	0.999992540603498	0.74766	0.730579	0.87903	0	0.480063	0.06835	0	0.658983	0.55881	0	0.648885	0.59868	0	.	.	5.57	2.26	0.27418	1.629000	0.36683	3.881000	0.40240	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.2149:0.1144:0.6707:0.0	8.669	0.33303	335	0.86220	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	64.1	40	chr1	52238879	.	G	T	64.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.078e+00;DP=888;ExcessHet=0.1072;FS=104.859;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.34;ReadPosRankSum=-2.710e-01;SOR=7.111	GT:AD:DP:GQ:PL	0/1:99,19:118:31:31,0,2785	19	0	2	0
chr1	54813813	54813813	-	A	splicing	LEXM	NM_152607:exon7:c.763-1->A;NM_001110533:exon7:c.763-1->A	.	.	.	.	425	1015	81	1	0	83	0.0392806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0062	0.00778754	0.0106	0.0026	0.0041	0	0.0076	0.0104	0.0161	0.0281	0.0029968	78	26028	rs1308898806	0.0091	0.0091	0.0084	0.0097	0.0266	0.0089	0.0089	0.0257	0.0253	0.0012	0.0037	0.0030	2.534e-05	0.0099	0.0248	0.0085	0.0089	0.0266	0.0066	0.0066	0.0062	0.0070	0.0245	0.0063	0.0061	0.0209	0.0196	0.0016	0.0033	0.0035	0.0032	0.0002	0.0096	0.0103	0.0093	0.0081	0.0245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2413.86	34	chr1	54813813	.	G	GA	2413.86	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.14;DP=763;ExcessHet=0.0082;FS=5.683;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=17.75;ReadPosRankSum=1.76;SOR=0.368	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1539,159,0	18	1	2	0
chr1	60041070	60041070	T	C	exonic	C1orf87	.	nonsynonymous SNV	C1orf87:NM_152377:exon4:c.A404G:p.Y135C,	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.18	B	0.099	B	0.003	N	1.000	D	1.43	L	1.42	T	-1.084	T	0.058	T	0.647	0.915	8.723	2.82	1.027	1.769	5.537	0.164	0.011160185948	.	0.000199681	0.0004	0	0.0002	0.0001	0	9.005e-05	0	0.0021	0.0002911	45	154602	rs201317358	0.0002	0.0002	0.0001	0.0003	0.0022	0.0002	0.0002	0.0019	0.0018	2.989e-05	2.237e-05	0	0	3.745e-05	0.0002	5.938e-05	0.0002	0.0022	5.256e-05	5.251e-05	2.571e-05	8.063e-05	0.0004	2.557e-05	1.83e-05	7.31e-05	3.036e-05	4.813e-05	0	0	0	0.0002	0.0002	0	1.471e-05	0	0.0004	0.066	0.36113	T	0.083	0.41405	T	0.18	0.29046	B	0.099	0.30579	B	0.003495	0.34874	N	0.132770	0.894037	0.36017	D	2.34	0.67151	M	1.42	0.33189	T	-4.95	0.81910	D	0.454	0.49146	-1.0841	0.06572	T	0.058	0.24167	T	10	0.016312987	0.00344	T	0.01116	0.28497	T	0.164	0.42212	.	.	0.299086750705	0.29526	0.2812231559503827	0.28035	0.382782754589	0.39609	.	.	.	0.048765	0.28114	T	-0.363407	0.03942	T	-0.301262	0.44592	T	0.148622333632185	0.16993	T	0.691131	0.30052	T	0.18783695	0.40256	0.21905713	0.46631	0.18783695	0.40255	0.21905713	0.46630	-3.354	0.14444	T	.	.	0.136	0.29642	B	.	.	2.631147	0.34213	19.56	0.95210127693053981	0.26416	0.71635	0.35099	D	AEFI	0.194857	0.32192	N	-0.318328667389358	0.28453	1.569436	-0.239522141900813	0.30134	1.694082	0.00212117520336264	0.09174	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.25	2.82	0.32061	1.754000	0.37998	2.606000	0.33549	0.609000	0.47794	0.967000	0.34061	0.999000	0.35428	0.491000	0.28814	0.1513:0.0834:0.0:0.7653	5.537	0.16304	876	0.30350	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1294.98	36	chr1	60041070	.	T	C	1294.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.64;DP=832;ExcessHet=0.0000;FS=0.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=-9.550e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/1:65,52:117:99:1309,0,1470	20	0	1	0
chr1	63654374	63654374	C	T	exonic	PGM1	.	stopgain	PGM1:NM_001172818:exon10:c.C1561T:p.R521X	Congenital disorder of glycosylation, type It, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	48371	PGM1-congenital_disorder_of_glycosylation	MONDO:MONDO:0013968,MedGen:C2752015,OMIM:614921,Orphanet:319646	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	6.147	37	4.51	1.379	1.134	13.309	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs397515423	1.163e-05	1.163e-05	1.362e-05	9.627e-06	2.519e-05	7.09e-06	5.79e-06	7.31e-06	5.72e-06	0	0	0	2.519e-05	0	0	1.259e-05	0	2.319e-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	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.958	0.96758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498631	0.94255	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive	.;.;.;High	10.206197	0.99633	46	0.99741728891944859	0.83555	0.91770	0.54226	D	AEFBI	0.474365	0.51865	N	0.551564909029067	0.70178	5.463448	0.378581841029541	0.60247	4.210113	0.999975670858699	0.50053	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.45	4.51	0.54589	1.188000	0.31711	5.224000	0.48009	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.870000	0.41412	0.2968:0.7032:0.0:0.0	13.309	0.59807	901	0.24189	Alpha-D-phosphohexomutase, C-terminal;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2067.98	33	chr1	63654374	.	C	T	2067.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.950e-01;DP=855;ExcessHet=0.0000;FS=2.036;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=-1.215e+00;SOR=0.606	GT:AD:DP:GQ:PL	0/1:65,90:155:99:2082,0,1416	20	0	1	0
chr1	74571758	74571758	C	T	exonic	ERICH3	.	nonsynonymous SNV	ERICH3:NM_001002912:exon14:c.G3952A:p.G1318R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.023	B	0.002	B	.	.	1.000	N	0	N	1.83	T	-0.932	T	0.007	T	0.054	-0.033	3.844	-3.16	-0.449	-2.005	3.393	0.007	0.000686013650127	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401686560	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	1.314e-05	1.313e-05	2.57e-05	0	0.0001	2.18e-06	8.2e-07	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.764	0.03441	T	0.588	0.08273	T	0.023	0.18885	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	1.83	0.24841	T	-1.11	0.28703	N	0.075	0.04913	-0.9323	0.43799	T	0.007	0.02478	T	9	0.04447055	0.03407	T	6.86E-4	0.00400	T	0.007	0.00512	0.192	0.10304	0.0551355673512	0.04727	0.0215250082123564	0.02105	0.0183167722778	0.01791	.	.	.	0.008606	0.07893	T	-0.392488	0.02592	T	-0.801558	0.01863	T	0.016540956526073	0.00417	T	0.510149	0.16261	T	0.043978594	0.06951	0.060442775	0.11511	0.043978594	0.06950	0.060442775	0.11510	-3.827	0.21208	T	.	.	0.077	0.06387	B	.	.	-0.724672	0.01264	0.066	0.55718582970030628	0.05401	0.01693	0.05392	N	AEFBCI	0.044569	0.07187	N	-1.61473113257578	0.01193	0.05184746	-1.69743587217927	0.01149	0.05166973	0.0431047847123111	0.14555	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.58	-3.16	0.04897	-2.295000	0.01224	-2.279000	0.03958	-1.358000	0.01184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2397:0.2235:0.5369	3.393	0.06872	713	0.56348	.	.	.	.	.	.	Uncertain significance	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	8242.11	99	chr1	74571758	.	C	T	8242.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.45;DP=2231;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=1.88;SOR=0.658	GT:AD:DP:GQ:PL	0/1:165,153:318:99:4170,0,4055	19	0	2	0
chr1	75761267	75761267	T	C	exonic	ACADM	.	nonsynonymous SNV	ACADM:NM_001286044:exon8:c.T524C:p.I175T	Acyl-CoA dehydrogenase, medium chain, deficiency of, Autosomal recessive	.	0	1501	21	0	0	21	0.00694674	.	.	98164	Inborn_genetic_diseases|Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008721,MedGen:C0220710,OMIM:201450,Orphanet:42|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.011	B	0.305	B	0.000	D	1.000	D	-1.62	N	-3.81	D	-0.409	T	0.391	T	0.769	1.404	10.63	5.3	2.127	3.770	14.384	0.581	0.0754163328048	0.0004	.	0.0004	0	8.637e-05	0	0	0.0005	0	0.0012	0.0003622	56	154602	rs150710061	0.0004	0.0004	0.0004	0.0005	0.0026	0.0004	0.0004	0.0016	0.0013	0.0002	0.0002	0.0012	0.0002	0	0.0026	0.0004	0.0005	0.0014	0.0003	0.0003	0.0003	0.0004	0.0005	0.0003	0.0002	0.0004	0.0003	9.646e-05	0	0.0002	0.0020	0.0002	0	0	0.0005	0.0005	0.0002	0.746	0.05002	T	0.631	0.07842	T	0.011	0.15914	B	0.021	0.41207	B	0.000000	0.84330	D	0.048394	0.999999	0.58761	D	-0.21	0.04010	N	-3.81	0.95728	D	-2.42	0.53096	N	0.367	0.46368	-0.4086	0.71755	T	0.391	0.74503	T	10	0.081932575	0.13467	T	0.075416	0.72282	D	0.581	0.83137	.	.	0.919890219729	0.91908	0.9337390151556569	0.93352	0.253000470629	0.27868	0.459393918514	0.33227	T	0.606579	0.94710	D	-0.0116757	0.50031	T	0.169919	0.81404	D	0.0464885197579861	0.04873	T	0.89581	0.63970	D	0.4626909	0.64838	0.2550065	0.51175	0.4657476	0.65029	0.2812008	0.54099	-4.405	0.29840	T	0.09664777496424153	0.06712	0.120	0.26855	B	.;.;.;.	.;.;.;.	3.018466	0.40391	21.2	0.86618063593244676	0.16657	0.93533	0.58476	D	AEFBI	0.738786	0.68355	D	-0.51731984107653	0.21519	1.142655	-0.21079234081159	0.31146	1.760027	0.993409396813185	0.33202	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.3	5.3	0.74745	3.734000	0.54760	1.914000	0.29665	0.665000	0.62972	1.000000	0.71638	0.966000	0.29516	0.995000	0.73285	0.0:0.0:0.0:1.0	14.384	0.66500	784	0.47045	Acyl-CoA dehydrogenase/oxidase C-terminal;Acyl-CoA dehydrogenase/oxidase C-terminal;Acyl-CoA dehydrogenase/oxidase 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	0.04762	2542.11	34	chr1	75761267	.	T	C	2542.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.410e-01;DP=864;ExcessHet=0.1072;FS=3.043;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=0.545;SOR=0.804	GT:AD:DP:GQ:PL	0/1:48,52:100:99:1230,0,1171	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|2:35,0,10:45:48:0|1:77935995_G_A:48,153,1399,0,1247,1218:77935995	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|2:35,0,10:45:48:0|1:77935995_G_A:48,153,1399,0,1247,1218:77935995	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	0/1:84,30:121:99:.:.:264,0,1290	1	0	17	3
chr1	85182478	85182478	G	A	exonic	SYDE2	.	stopgain	SYDE2:NM_032184:exon3:c.C2164T:p.R722X,	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	4.286	22.4	4.72	2.688	2.887	13.780	.	.	.	.	8.4e-05	0	0	0.0001	0	0.0001	0	6.109e-05	6.47e-05	10	154602	rs755971966	4.516e-05	4.515e-05	4.085e-05	4.952e-05	7.56e-05	3.642e-05	3.322e-05	2.004e-05	1.661e-05	0	6.715e-05	0.0009	7.56e-05	0	0	2.698e-05	6.626e-05	3.479e-05	4.604e-05	4.598e-05	3.857e-05	5.387e-05	0.0002	2.111e-05	1.528e-05	.	.	0	0	0	0.0014	0.0002	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.257	0.29081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.371528	0.88158	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.912246	0.98197	39	0.99738309828978866	0.83337	0.90637	0.51979	D	AEFGBI	0.159576	0.28539	N	0.723746943540939	0.81190	7.464279	0.567331834292045	0.72612	5.837344	0.997342232415	0.35520	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.69	4.72	0.59248	2.939000	0.48687	6.489000	0.55755	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.7355:0.2645	13.780	0.62567	723	0.55174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2193.98	33	chr1	85182478	.	G	A	2193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=1014;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.75;ReadPosRankSum=-9.070e-01;SOR=0.698	GT:AD:DP:GQ:PL	0/1:54,77:131:99:2208,0,1381	20	0	1	0
chr1	85708091	85708091	C	A	exonic	ZNHIT6	.	nonsynonymous SNV	ZNHIT6:NM_001170670:exon1:c.G194T:p.G65V	.	.	405	1114	3	0	0	3	0.00134469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.365	B	0.188	B	0.300	N	1.000	N	0.345	N	0.74	T	-0.994	T	0.043	T	0.146	1.728	11.74	-0.658	-0.190	-0.075	7.473	0.037	0.0342035215285	0.0022	0.00119808	0.0041	0.0006	0.0004	0	0.0029	0.0062	0.0022	0.0035	0.0039197	606	154602	rs148103860	0.0040	0.0040	0.0041	0.0040	0.0046	0.0039	0.0039	0.0044	0.0044	0.0006	0.0008	0	0	0.0030	0.0005	0.0046	0.0040	0.0042	0.0025	0.0025	0.0026	0.0025	0.0041	0.0023	0.0023	0.0037	0.0036	0.0008	0	0.0020	0	0	0.0019	0	0.0041	0.0019	0.0039	0.029	0.53900	D	0.038	0.51421	D	0.365	0.34004	B	0.188	0.36237	B	0.299637	0.03946	N	1.560000	1	0.08975	N	0.805	0.20218	L	0.57	0.54347	T	-1.49	0.36385	N	0.197	0.21710	-0.9940	0.31565	T	0.043	0.18368	T	10	0.003576219	0.00065	T	0.034204	0.55518	D	0.037	0.09474	.	.	0.228597637076	0.22478	0.15444653069496103	0.15365	0.381936508766	0.39535	0.229956135154	0.01965	T	0.067138	0.33124	T	-0.529251	0.00388	T	-0.531504	0.19137	T	0.00766533065542921	0.00089	T	0.478952	0.32527	T	0.04659715	0.07824	0.066805966	0.13734	0.04659715	0.07824	0.066805966	0.13734	-4.574	0.35168	T	.	.	0.085	0.10400	B	.;.	.;.	1.309881	0.17126	12.98	0.93748568966760959	0.23687	0.05314	0.11164	N	ALL	0.051674	0.09152	N	-0.910586439853762	0.10594	0.5069656	-0.997093068685732	0.09850	0.4925034	0.9999997211388	0.74766	0.627647	0.40530	0	0.52208	0.09955	0	0.672317	0.60874	0	0.56214	0.19341	0	.	.	4.45	-0.658	0.10855	-0.074000	0.11410	-2.056000	0.04279	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.0:0.4146:0.4593:0.1261	7.473	0.26533	745	0.52414	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2232.98	46	chr1	85708091	.	C	A	2232.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.430e-01;DP=1326;ExcessHet=0.0000;FS=0.544;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=-2.990e-01;SOR=0.771	GT:AD:DP:GQ:PL	0/1:98,85:183:99:2247,0,2535	20	0	1	0
chr1	86580219	86580225	ACCTACT	0	exonic	CLCA4	.	.	.	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	1|3:0,149,0,139:288:99:1|0:86580213_TCCTACA_T:11585,4100,3722,10279,4278,10031,4358,0,4447,3825:86580213	0	12	6	0
chr1	86580225	86580225	-	CCTACT	exonic	CLCA4	.	nonframeshift insertion	CLCA4:NM_012128:exon14:c.2640_2641insCCTACT:p.P887_D888insTP,	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	1|3:0,149,0,139:288:99:1|0:86580213_TCCTACA_T:11585,4100,3722,10279,4278,10031,4358,0,4447,3825:86580213	0	12	6	0
chr1	93877160	93877160	T	C	exonic	DNTTIP2	.	nonsynonymous SNV	DNTTIP2:NM_014597:exon2:c.A775G:p.N259D,	.	.	430	1088	3	1	0	5	0.00229253	.	.	2699647	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.0	B	0.001	B	0.269	N	1.000	N	1.87	L	2.58	T	-0.949	T	0.011	T	0.018	-1.272	0.044	-6.65	-1.290	-0.299	3.085	0.060	0.00220865546612	.	.	4.98e-05	0	0	0	0.0002	3.005e-05	0	0.0002	3.88e-05	6	154602	rs764729684	3.149e-05	3.147e-05	2.588e-05	3.715e-05	0.0007	2.414e-05	2.159e-05	0.0002	0.0001	0	0	0	0	3.797e-05	0.0007	2.608e-05	6.628e-05	8.12e-05	1.97e-05	1.97e-05	1.284e-05	2.689e-05	4.408e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.408e-05	0	0	0.008	0.58626	D	0.109	0.37449	T	0.0	0.02946	B	0.001	0.04355	B	0.269127	0.03761	N	1.518450	1	0.08975	N	1.65	0.42232	L	2.58	0.13434	T	-1.39	0.34397	N	0.052	0.02366	-0.9487	0.41194	T	0.011	0.03996	T	10	0.041187108	0.02752	T	0.002209	0.04178	T	0.060	0.17295	0.086	0.00867	0.0884992946249	0.08302	0.096594111951845	0.09591	0.0706007895718	0.07910	0.2919459939	0.09205	T	0.013045	0.11355	T	-0.586581	0.00176	T	-0.820681	0.01438	T	0.0484923243938724	0.05232	T	0.49875	0.15541	T	0.17244938	0.37937	0.07688807	0.17075	0.17244938	0.37937	0.07688807	0.17075	-2.796	0.08147	T	.	.	0.066	0.02173	B	.	.	-0.867055	0.00982	0.039	0.43076528454710916	0.03218	0.09069	0.14898	N	AEFBCI	0.046741	0.07794	N	-1.70113991315903	0.00838	0.03622861	-1.83191969334611	0.00662	0.02946031	0.999999804393829	0.74766	0.722319	0.85440	0	0.662677	0.63036	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.2	-6.65	0.01630	-0.268000	0.08637	.	.	-1.679000	0.00788	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1002:0.361:0.252:0.2868	3.085	0.05896	427	0.81056	.	.	.	.	.	.	Uncertain significance	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	2630.98	33	chr1	93877160	.	T	C	2630.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.016e+00;DP=1983;ExcessHet=0.0000;FS=4.796;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=1.56;SOR=0.649	GT:AD:DP:GQ:PL	0/1:101,103:204:99:2645,0,2674	20	0	1	0
chr1	97699507	97699507	G	C	exonic	DPYD	.	nonsynonymous SNV	DPYD:NM_000110:exon6:c.C524G:p.S175W,	Dihydropyrimidine dehydrogenase deficiency, Autosomal recessive;5-fluorouracil toxicity, Autosomal recessive	YES	0	1520	1	1	0	3	0.000985869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.9	P	0.473	P	0.005	N	1.000	D	1.795	L	-2.99	D	0.119	D	0.605	D	0.341	2.980	15.93	2.6	0.288	2.327	11.472	0.408	0.131913296895	.	0.000199681	1.649e-05	0	0	0	0	2.999e-05	0	0	1.94e-05	3	154602	rs371792178	4.106e-06	4.104e-06	2.723e-06	5.502e-06	5.398e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.398e-06	0	0	1.315e-05	1.312e-05	1.286e-05	1.345e-05	6.561e-05	2.18e-06	8.2e-07	.	.	0	0	6.561e-05	0	0	0	0	1.471e-05	0	0	0.009	0.57480	D	0.01	0.65728	D	0.9	0.49598	P	0.473	0.46845	P	0.005328	0.32892	N	0.325610	0.999999	0.81001	D	0.345	0.11182	N	-2.99	0.92108	D	-3.44	0.67477	D	0.444	0.48227	0.119	0.84522	D	0.605	0.85979	D	10	0.2439948	0.41624	T	0.131913	0.81420	D	0.408	0.72022	0.375	0.38830	0.918466563785	0.91764	0.5643580757601343	0.56362	0.236595121001	0.26196	0.434350669384	0.29804	T	0.517774	0.83078	D	0.0220098	0.54652	T	-0.142515	0.59899	T	0.599578145576132	0.36384	D	0.962504	0.85970	D	0.09641819	0.22709	0.07599471	0.16786	0.09641819	0.22709	0.07599471	0.16785	-13.975	0.92974	D	0.3979155289464447	0.49016	0.182	0.39562	B	.	.	2.546568	0.32951	19.20	0.99026773464545537	0.50699	0.87759	0.47408	D	AEFBI	0.563677	0.57077	D	-0.000134985729398435	0.41848	2.510633	-0.0136762523610614	0.39095	2.312979	4.08599156952359E-4	0.06860	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.5	2.6	0.30173	2.327000	0.43517	1.884000	0.29472	-0.161000	0.11593	0.978000	0.35038	0.949000	0.28973	0.927000	0.46353	0.1992:0.0:0.8008:0.0	11.472	0.49522	878	0.29785	.	.	.	.	.	.	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	1016.98	35	chr1	97699507	.	G	C	1016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.750e-01;DP=750;ExcessHet=0.0000;FS=1.005;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.89;ReadPosRankSum=-1.400e-02;SOR=0.560	GT:AD:DP:GQ:PL	0/1:25,39:64:99:1031,0,632	20	0	1	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	0/1:100,41:141:99:.:.:121,0,2191	6	0	15	0
chr1	109250116	109250116	-	CGC	exonic	CELSR2	.	nonframeshift insertion	CELSR2:NM_001408:exon1:c.37_38insCGC:p.P16_L17insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	0/1:43,33,0:76:99:1245,0,1613,1374,1712,3087	1	11	8	0
chr1	109250114	109250116	CGC	-	exonic	CELSR2	.	nonframeshift deletion	CELSR2:NM_001408:exon1:c.35_37del:p.P16del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.599e-06	3.557e-05	7.286e-06	5.903e-06	3.316e-05	3.11e-06	2.25e-06	8.9e-07	6e-07	3.316e-05	0	0	2.792e-05	0	0	3.793e-06	3.555e-05	1.259e-05	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	0/1:43,33,0:76:99:1245,0,1613,1374,1712,3087	1	11	8	0
chr1	109345758	109345758	G	C	exonic	SORT1	.	nonsynonymous SNV	SORT1:NM_001205228:exon8:c.C545G:p.A182G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.015	B	0.009	B	0.000	D	0.633	N	1.15	L	1.99	T	-1.062	T	0.021	T	0.238	2.228	13.41	5.41	2.530	5.469	16.109	0.070	0.00713107510447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.29029	T	0.327	0.18732	T	0.015	0.17086	B	0.009	0.14300	B	0.000127	0.49741	D	0.176319	0.886658	0.30679	N	0.895	0.22405	L	1.99	0.21666	T	-1.46	0.35792	N	0.178	0.19190	-1.0619	0.11288	T	0.021	0.08963	T	10	0.16443697	0.30763	T	0.007131	0.18896	T	0.070	0.20419	0.493	0.58048	0.287411543184	0.28351	0.31196433258006695	0.31109	0.254908179883	0.28068	0.620297551155	0.55771	T	0.090282	0.38551	T	-0.16535	0.25939	T	-0.475291	0.24947	T	0.790876150131226	0.45747	D	0.874113	0.58433	D	0.2534384	0.48366	0.16509998	0.38212	0.2534384	0.48365	0.16509998	0.38211	-9.816	0.72802	D	.	.	0.119	0.37063	B	.;.	.;.	4.539647	0.71347	25.7	0.98019852777233496	0.37620	0.93133	0.57412	D	AEFBCI	0.831726	0.75022	D	-0.0433107464620862	0.39902	2.361	0.15510709388241	0.47413	2.971915	0.999998613975531	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.579976	0.35079	0	.	.	5.41	5.41	0.78313	5.605000	0.67317	11.781000	0.96113	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	16.109	0.81055	649	0.63102	.;Sortilin, N-terminal|VPS10	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	699.98	34	chr1	109345758	.	G	C	699.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.490e+00;DP=799;ExcessHet=0.0000;FS=0.816;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.37;ReadPosRankSum=-1.660e-01;SOR=0.597	GT:AD:DP:GQ:PL	0/1:60,35:95:99:714,0,1657	20	0	1	0
chr1	109477999	109477999	A	G	exonic	SYPL2	.	nonsynonymous SNV	SYPL2:NM_001040709:exon5:c.A638G:p.N213S,	.	.	413	1103	6	0	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.957	D	0.806	P	0.000	D	1.000	D	2.3	M	1.71	T	-0.991	T	0.103	T	0.318	4.351	22.9	6.04	2.317	7.213	15.559	0.410	.	0.0041	0.00159744	0.0059	0.0008	0.0008	0	0.0159	0.0083	0.0071	0.0023	0.005498	850	154602	rs62641754	0.0053	0.0053	0.0054	0.0052	0.0058	0.0052	0.0052	0.0057	0.0056	0.0007	0.0011	0.0002	2.519e-05	0.0139	0.0012	0.0058	0.0050	0.0023	0.0050	0.0050	0.0046	0.0053	0.0066	0.0047	0.0046	0.0061	0.0059	0.0012	0.0493	0.0024	0	0.0002	0.0158	0	0.0066	0.0005	0.0010	0.001	0.78490	D	0.003	0.76473	D	0.957	0.54824	D	0.751	0.56062	P	0.000000	0.84330	D	0.000000	0.999414	0.81001	D	2.955	0.85029	M	1.71	0.26737	T	-4.51	0.78222	D	0.91	0.91162	-0.9908	0.32398	T	0.103	0.37894	T	10	0.013972938	0.00295	T	.	.	.	0.410	0.72176	.	.	0.223847106136	0.22009	0.7252880645645586	0.72472	0.631928963362	0.57141	0.692426621914	0.66054	T	0.477208	0.80754	T	-0.407462	0.02067	T	-0.347679	0.39470	T	0.020658057054465	0.00766	T	0.923508	0.72088	D	0.5628381	0.70666	0.6351804	0.78703	0.5628381	0.70667	0.6351804	0.78704	-8.906	0.67090	D	.	.	0.284	0.51686	B	.	.	4.651097	0.74149	26.1	0.99870868755598652	0.94815	0.91216	0.53088	D	AEFDGBHCI	0.816927	0.73854	D	0.727220554962597	0.81416	7.517218	0.735654743539371	0.85082	8.475595	0.999999999974968	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.550215	0.18615	0	0.530356	0.10902	0	.	.	6.04	6.04	0.98025	7.413000	0.79318	11.244000	0.90520	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.559	0.75963	576	0.70006	Marvel domain|Marvel domain	.	.	.	.	rs62641754	Uncertain significance	0	0	0	0	0	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	782.98	34	chr1	109477999	.	A	G	782.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.44;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=1.24;SOR=0.578	GT:AD:DP:GQ:PL	0/1:25,29:54:99:797,0,559	20	0	1	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	0/1:80,16:96:99:.:.:184,0,2694	11	0	7	3
chr1	109758052	109758052	G	T	exonic	EPS8L3	.	nonsynonymous SNV	EPS8L3:NM_001319952:exon8:c.C625A:p.L209M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	D	1.000	D	2.64	M	0.99	T	0.157	D	0.571	D	0.578	2.544	14.47	3.37	0.592	2.160	9.683	0.449	0.0732947253702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	1.0	0.90584	D	0.999	0.92359	D	0.000181	0.48115	D	0.096993	0.999774	0.48980	D	2.52	0.73523	M	0.99	0.81318	T	-1.93	0.44852	N	0.648	0.65930	0.157	0.85178	D	0.571	0.84499	D	10	0.50233066	0.61620	D	0.073295	0.71752	D	0.449	0.75004	0.377	0.39156	0.654265926928	0.65138	0.45954651212334396	0.45872	0.464151656915	0.45893	0.500180602074	0.38853	T	0.138371	0.47182	T	0.131113	0.67469	D	-0.0494422	0.67060	D	0.983422756195068	0.75096	D	0.679332	0.28809	T	0.4613492	0.64755	0.4627329	0.68807	0.4613492	0.64755	0.4627329	0.68808	-6.831	0.53712	T	0.8458529850787996	0.91327	0.288	0.52010	B	.;.;.	.;.;.	4.003166	0.59000	24.0	0.9945025874216793	0.65223	0.90144	0.51092	D	AEFBI	0.327908	0.42873	N	0.295084464084936	0.55900	3.75404	0.189722915797704	0.49282	3.133355	0.957796685293268	0.28325	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.24	3.37	0.37692	2.505000	0.45084	5.615000	0.49067	-0.105000	0.15698	0.996000	0.39380	1.000000	0.68203	0.918000	0.45347	0.1659:0.0:0.8341:0.0	9.683	0.39243	564	0.70960	.;.;.	.	.	.	.	.	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	0.04762	70.09	37	chr1	109758052	.	G	T	70.09	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.510e-01;DP=838;ExcessHet=0.1072;FS=26.116;InbreedingCoeff=-0.0437;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.69;ReadPosRankSum=0.866;SOR=4.499	GT:AD:DP:GQ:PL	0/1:44,6:50:5:5,0,1205	19	0	2	0
chr1	110222977	110222977	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C692G:p.A231G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.727	P	0.3	B	0.001	D	0.994	D	1.305	L	-4.19	D	0.589	D	0.723	D	0.404	2.090	12.95	4.88	2.425	3.659	11.857	0.456	0.0722916072849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0034	0.0008	0.0006	0.0008	0.0007	0.0006	0.0008	0.0008	0.0008	0	0.0003	0.0002	1.877e-05	0.0002	0.0008	0.0008	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.315	0.21144	T	0.051	0.42493	B	0.157	0.41053	B	0.000921	0.41028	D	0.275191	0.99437	0.42258	D	2.415	0.69758	M	-4.19	0.96908	D	-2.8	0.59226	D	0.438	0.47672	0.589	0.91750	D	0.723	0.90514	D	10	0.35339242	0.52146	T	0.072292	0.71493	D	0.456	0.75483	0.363	0.36874	0.993177892102	0.99310	0.7526387987383419	0.75210	1.08132311467	0.77145	0.672360956669	0.63174	T	0.667086	0.90076	D	0.175355	0.71615	D	0.0141088	0.71248	D	0.842766284942627	0.49555	D	0.923008	0.74652	D	0.2548791	0.48519	0.22605044	0.47570	0.2548791	0.48519	0.22605044	0.47569	-8.263	0.63102	D	.	.	0.237	0.47944	B	.;.;.	.;.;.	3.598856	0.50823	23.0	0.99047415397653182	0.51162	0.96210	0.68040	D	AEFDGBI	0.477094	0.52023	N	0.0886515093145786	0.45935	2.841749	0.218624017239798	0.50879	3.275622	0.993656479131254	0.33302	0.651	0.46895	0	0.588066	0.40923	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.88	4.88	0.63131	2.965000	0.48892	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9187:0.0:0.0813	11.857	0.51719	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2812	1718.31	106	chr1	110222977	.	C	G	1718.31	.	AC=9;AF=0.281;AN=32;BaseQRankSum=-2.042e+00;DP=2418;ExcessHet=4.7172;FS=80.588;InbreedingCoeff=-0.3827;MLEAC=11;MLEAF=0.344;MQ=60.00;MQRankSum=0.00;QD=1.44;ReadPosRankSum=1.63;SOR=11.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,23:139:99:0|1:110222977_C_G:200,0,4153:110222977	7	0	9	5
chr1	110222980	110222980	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C695G:p.S232C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.981	D	0.000	D	1.000	D	2.695	M	-4.48	D	1.099	D	0.949	D	0.846	3.899	19.82	4.88	2.425	7.818	18.385	0.929	0.40933610176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.636e-05	0.0009	7.295e-05	5.971e-05	8.013e-05	5.553e-05	5.161e-05	6.603e-05	6.157e-05	3.015e-05	0	0	2.525e-05	0	0	8.013e-05	6.68e-05	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.992	0.90584	D	0.945	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.905	0.96153	H	-4.48	0.97606	D	-4.53	0.78388	D	0.831	0.82660	1.099	0.99607	D	0.949	0.98331	D	10	0.8837731	0.87697	D	0.409336	0.93564	D	0.929	0.98304	0.653	0.79068	0.998239969463	0.99822	0.9428938060723817	0.94271	2.16590570783	0.95413	0.900061309338	0.96447	D	0.865354	0.97046	D	0.507574	0.94527	D	0.491319	0.94446	D	0.996615469455719	0.89714	D	0.968103	0.88413	D	0.81521255	0.84899	0.67973554	0.81184	0.81521255	0.84900	0.67973554	0.81185	-14.23	0.93792	D	.	.	0.990	0.93569	P	.;.;.	.;.;.	5.345809	0.89688	31	0.99023122748486747	0.50634	0.99055	0.90567	D	AEFDGBI	0.873031	0.79518	D	0.820546623686913	0.87372	9.195578	0.766985295263051	0.87421	9.215925	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	7.905000	0.86479	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	1638.75	109	chr1	110222980	.	C	G	1638.75	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-3.817e+00;DP=2206;ExcessHet=3.5521;FS=69.990;InbreedingCoeff=-0.2544;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=1.50;ReadPosRankSum=1.87;SOR=10.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,23:139:99:0|1:110222977_C_G:201,0,4148:110222977	12	0	8	1
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.019	B	0.006	B	0.000	N	1.000	D	0.55	N	1.89	T	-0.961	T	0.016	T	0.249	0.420	6.281	2.7	0.841	0.795	6.367	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1360.52	107	chr1	112913901	.	C	G,T	1360.52	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-3.601e+00;DP=1739;ExcessHet=4.7172;FS=69.726;InbreedingCoeff=-0.2738;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.49;ReadPosRankSum=0.901;SOR=9.894	GT:AD:DP:GQ:PL	0/1:67,20,0:87:73:73,0,1581,265,1636,1902	12	0	8	0
chr1	112913901	112913901	C	T	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493A:p.S498N	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.626	P	0.219	B	0.000	N	1.000	D	0.55	N	1.87	T	-1.064	T	0.021	T	0.104	1.964	12.53	2.7	0.841	0.795	6.367	0.041	0.0129096832338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.114	0.36765	T	0.626	0.40074	P	0.219	0.37734	B	0.000194	0.00507	N	3.613670	0.542923	0.32069	D	0.55	0.14455	N	1.87	0.24085	T	-0.51	0.15986	N	0.234	0.26354	-1.0643	0.10713	T	0.021	0.08686	T	10	0.10610628	0.19646	T	0.01291	0.31889	T	0.041	0.10877	0.121	0.02793	0.200294437569	0.19612	0.24899618109934885	0.24813	0.315069041011	0.33789	0.411491125822	0.26663	T	0.106424	0.41776	T	-0.242444	0.15039	T	-0.58603	0.14011	T	0.547992467880249	0.34402	D	.	.	.	0.096315265	0.22684	0.08850896	0.20641	0.096315265	0.22683	0.08850896	0.20641	-4.187	0.26563	T	.	.	0.102	0.18206	B	.;.	.;.	1.870468	0.23763	16.14	0.98071642327873421	0.38030	0.50322	0.28636	D	AEFBI	0.126630	0.24365	N	-0.162150398385312	0.34719	1.985187	-0.0858474992985718	0.35975	2.087787	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1360.52	107	chr1	112913901	.	C	G,T	1360.52	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-3.601e+00;DP=1739;ExcessHet=4.7172;FS=69.726;InbreedingCoeff=-0.2738;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.49;ReadPosRankSum=0.901;SOR=9.894	GT:AD:DP:GQ:PL	0/1:67,20,0:87:73:73,0,1581,265,1636,1902	12	0	8	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.033	B	0.015	B	0.000	D	0.999	D	-1.545	N	.	.	-0.951	T	0.015	T	0.585	0.535	6.895	5.89	2.787	4.426	15.011	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	6766.73	121	chr1	114732648	.	C	G	6766.73	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.661e+00;DP=3409;ExcessHet=54.0936;FS=245.736;InbreedingCoeff=-0.9995;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.26;ReadPosRankSum=1.31;SOR=12.755	GT:AD:DP:GQ:PL	0/1:91,40:138:99:160,0,1548	0	0	21	0
chr1	117075114	117075114	A	G	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon5:c.A530G:p.D177G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.004	B	0.006	B	0.457	N	1.000	N	1.59	L	-2.26	D	-0.762	T	0.291	T	0.032	2.133	13.09	-4.06	-0.643	-0.172	6.280	0.154	0.0132360835549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.28646	T	0.09	0.40267	T	0.001	0.07471	B	0.002	0.06944	B	0.457106	0.04848	N	1.398010	1	0.08975	N	1.14	0.29013	L	-2.26	0.87352	D	-0.75	0.21003	N	0.083	0.05929	-0.7620	0.57296	T	0.291	0.66259	T	10	0.058485538	0.06882	T	0.013236	0.32488	T	0.154	0.40340	0.183	0.09131	0.643941902393	0.64099	0.08108825765098707	0.08043	0.241580751267	0.26684	0.243414014578	0.03106	T	0.021237	0.16575	T	-0.176365	0.24280	T	-0.491113	0.23275	T	0.054866618141063	0.06334	T	0.59544	0.22079	T	0.049401704	0.08766	0.062875554	0.12368	0.049401704	0.08766	0.062875554	0.12368	-3.245	0.13038	T	.	.	0.073	0.04723	B	.	.	0.063571	0.04739	1.366	0.94533126519332245	0.25034	0.11347	0.16573	N	AEFBI	0.048164	0.08190	N	-1.03133576847904	0.07959	0.3715235	-1.124398888183	0.07236	0.3512182	0.435799075252417	0.20411	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	-4.06	0.03718	0.032000	0.13620	0.077000	0.14340	0.756000	0.94297	0.000000	0.06391	0.001000	0.17328	0.008000	0.08271	0.3761:0.3505:0.2734:0.0	6.280	0.20207	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	116.39	72	chr1	117075114	.	ACC	GCC,A	116.39	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-3.677e+00;DP=1342;ExcessHet=0.3300;FS=114.546;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=2.15;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,10,0:84:42:0|1:117075112_A_G:42,0,2911,264,2941,3204:117075112	18	0	2	0
chr1	117075115	117075116	CC	-	exonic	TTF2	.	frameshift deletion	TTF2:NM_003594:exon5:c.531_532del:p.S179Ifs*26,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	116.39	72	chr1	117075114	.	ACC	GCC,A	116.39	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-3.677e+00;DP=1342;ExcessHet=0.3300;FS=114.546;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=2.15;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,10,0:84:42:0|1:117075112_A_G:42,0,2911,264,2941,3204:117075112	18	0	2	0
chr1	117075115	117075115	C	G	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon5:c.C531G:p.D177E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.004	B	0.006	B	0.457	N	1.000	N	0.895	L	-2.09	D	-0.949	T	0.152	T	0.024	1.069	9.364	-11.7	-1.989	-2.698	7.671	0.294	0.0133099251909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.19500	T	0.565	0.08961	T	0.003	0.11197	B	0.002	0.06944	B	0.457106	0.04848	N	1.398010	1	0.08975	N	0.795	0.19620	N	-2.09	0.86077	D	-0.44	0.14588	N	0.025	0.00485	-0.9489	0.41160	T	0.152	0.48049	T	10	0.036800593	0.01997	T	0.01331	0.32613	T	0.294	0.61388	0.15	0.05339	0.419713421852	0.41588	0.01867910000120359	0.01821	0.170441058877	0.19214	0.245176702738	0.03277	T	0.007389	0.06799	T	-0.230908	0.16530	T	-0.56946	0.15500	T	0.0853659222227376	0.10658	T	0.475952	0.14261	T	0.027897246	0.02046	0.030979753	0.01624	0.027897246	0.02046	0.030979753	0.01624	-2.944	0.09590	T	.	.	0.087	0.11366	B	.	.	-2.604579	0.00025	0.001	0.68458849430015456	0.08665	0.01377	0.04694	N	AEFBI	0.025145	0.01673	N	-2.17914600982642	0.00085	0.003650813	-2.26845868672044	0.00078	0.003437762	0.999999941412917	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	-11.7	0.00035	-1.899000	0.01691	-5.877000	0.01566	-1.734000	0.00710	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0817:0.3909:0.4201:0.1073	7.671	0.27624	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	75.57	72	chr1	117075115	.	C	G,*	75.57	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-3.836e+00;DP=1311;ExcessHet=0.3300;FS=113.927;InbreedingCoeff=-0.0852;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=3.35;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,10,0:83:45:0|1:117075112_A_G:45,0,2879,264,2909,3173:117075112	18	0	2	0
chr1	117075115	117075115	C	0	exonic	TTF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	75.57	72	chr1	117075115	.	C	G,*	75.57	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-3.836e+00;DP=1311;ExcessHet=0.3300;FS=113.927;InbreedingCoeff=-0.0852;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=3.35;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,10,0:83:45:0|1:117075112_A_G:45,0,2879,264,2909,3173:117075112	18	0	2	0
chr1	117075116	117075116	C	G	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon5:c.C532G:p.L178V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.952	P	0.652	P	0.218	N	1.000	N	1.87	L	-2.25	D	-0.572	T	0.361	T	0.093	1.266	10.13	2.83	0.941	0.585	7.325	0.284	0.0213300752184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.841e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.19023	T	0.291	0.20944	T	0.799	0.44910	P	0.214	0.37471	B	0.218384	0.16197	N	0.458835	1	0.08975	N	2.125	0.59049	M	-2.25	0.87272	D	0.07	0.06138	N	0.069	0.04188	-0.5724	0.65919	T	0.361	0.72292	T	10	0.09302208	0.16428	T	0.02133	0.44082	T	0.284	0.60219	0.102	0.01589	0.727519437982	0.72510	0.0620487696778787	0.06144	0.196730262232	0.22047	0.224589943886	0.01592	T	0.095091	0.39551	T	-0.107936	0.35110	T	-0.392819	0.34220	T	0.144249540598991	0.16636	T	0.655434	0.26547	T	0.03494017	0.04019	0.042891104	0.05214	0.03494017	0.04019	0.042891104	0.05213	-3.482	0.16181	T	.	.	0.062	0.01309	B	.	.	0.157752	0.05486	1.954	0.85876684211171095	0.16168	0.21968	0.21586	N	AEFBI	0.053474	0.09639	N	-0.484094750617409	0.22602	1.207987	-0.596142495220181	0.19592	1.051903	0.324646790490361	0.19420	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	2.83	0.32150	0.347000	0.19760	-0.033000	0.12769	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.7033:0.1406:0.1561	7.325	0.25724	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	34.06	72	chr1	117075116	.	C	G,*	34.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-4.531e+00;DP=1272;ExcessHet=0.1072;FS=66.244;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=0.20;ReadPosRankSum=3.34;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,10,0:82:48:0|1:117075112_A_G:48,0,2854,264,2884,3147:117075112	19	0	1	0
chr1	117075116	117075116	C	0	exonic	TTF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	34.06	72	chr1	117075116	.	C	G,*	34.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-4.531e+00;DP=1272;ExcessHet=0.1072;FS=66.244;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=0.20;ReadPosRankSum=3.34;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,10,0:82:48:0|1:117075112_A_G:48,0,2854,264,2884,3147:117075112	19	0	1	0
chr1	117090580	117090580	G	C	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon15:c.G2545C:p.E849Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.503	P	0.323	B	0.002	N	0.962	D	1.96	M	-1.03	T	-0.368	T	0.323	T	0.174	3.638	18.50	5.1	2.663	2.668	13.891	0.233	0.00830853091922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.32769	T	0.326	0.18789	T	0.503	0.37206	P	0.323	0.41825	B	0.001682	0.38271	N	0.000000	0.961826	0.38256	D	1.665	0.42610	L	-1.03	0.76430	T	-1.08	0.28084	N	0.24	0.27077	-0.3680	0.73022	T	0.323	0.69143	T	10	0.23383674	0.40410	T	0.008309	0.22004	T	0.233	0.53499	0.415	0.45380	0.778037506841	0.77599	0.30617731699651646	0.30530	0.341241828603	0.36058	0.309169411659	0.11782	T	0.248971	0.61885	T	-0.0514313	0.44231	T	-0.311654	0.43481	T	0.58659548968546	0.35873	D	0.847215	0.52823	T	0.14298809	0.32883	0.06340431	0.12554	0.14298809	0.32882	0.06340431	0.12554	-6.39	0.49432	T	.	.	0.087	0.11124	B	.	.	2.697218	0.35225	19.84	0.99767496621617513	0.85583	0.95325	0.64282	D	AEFBI	0.270626	0.38665	N	0.310363651786202	0.56680	3.833087	0.387939808959802	0.60822	4.274088	0.999990122100509	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.1	5.1	0.68917	2.739000	0.47083	5.730000	0.49516	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	13.891	0.63243	895	0.25842	SNF2-related, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1691.98	40	chr1	117090580	.	G	C	1691.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.200e-02;DP=851;ExcessHet=0.0000;FS=0.618;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.09;ReadPosRankSum=2.67;SOR=0.636	GT:AD:DP:GQ:PL	0/1:69,71:140:99:1706,0,1665	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|1:113,35:148:99:0|1:145872713_C_G:167,0,3502:145872713	5	0	16	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.57419	T	-1.48	0.36189	N	0.138	0.13626	.	.	.	.	.	.	.	0.13870499	0.26377	T	.	.	.	.	.	.	.	.	.	0.4799690801717402	0.47916	.	.	.	.	.	0.054385	0.29709	T	.	.	.	.	.	.	.	.	.	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.42763	B	.;.	.;.	3.406129	0.47225	22.4	.	.	.	.	.	.	0.196541	0.32351	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344000	0.19703	1.359000	0.25866	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.35	2100.21	101	chr1	145872714	.	C	G	2100.21	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-4.135e+00;DP=2664;ExcessHet=14.4320;FS=138.726;InbreedingCoeff=-0.4963;MLEAC=14;MLEAF=0.350;MQ=60.00;MQRankSum=0.00;QD=1.14;ReadPosRankSum=0.919;SOR=11.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,35:148:99:0|1:145872713_C_G:167,0,3502:145872713	6	0	14	1
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C	.	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	.	.	.	.	.	.	1.000	N	.	.	4.24	T	-0.912	T	0.002	T	0.328	-0.960	0.324	0.43	-1.589	-0.069	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4762	30341.43	581	chr1	149075685	.	C	A	30341.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.56;DP=9689;ExcessHet=43.6797;FS=6.799;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=47.24;MQRankSum=-6.707e+00;QD=3.24;ReadPosRankSum=-1.735e+00;SOR=1.328	GT:AD:DP:GQ:PL	0/1:440,83:523:99:1080,0,11660	1	0	20	0
chr1	149455377	149455377	G	A	exonic	NOTCH2NLC	.	nonsynonymous SNV	NOTCH2NLC:NM_001364012:exon3:c.G98A:p.R33H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.098e-05	4.557e-05	6.283e-05	4.033e-05	0.0003	3.446e-05	2.895e-05	0.0002	0.0001	0	4.209e-05	0	0.0003	0	0	3.259e-05	7.452e-05	4.156e-05	2.839e-05	2.693e-05	0	6.111e-05	0.0005	7.54e-06	4.09e-06	9.168e-05	3.751e-05	0	0	0	0	0.0005	0.0001	0	0	0	0	.	.	.	0.132	0.34477	T	.	.	.	.	.	.	.	.	.	.	0.999058	0.21670	N	.	.	.	0.42	0.56937	T	.	.	.	0.278	0.31478	-1.0899	0.05549	T	0.076	0.30492	T	9	0.16271439	0.30487	T	0.004155	0.09963	T	.	.	.	.	0.345859378078	0.34197	.	.	.	.	0.487647145987	0.37113	T	.	.	.	-0.0440443	0.45346	T	-0.301043	0.44614	T	0.811187386512756	0.47132	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.22537	B	.	.	3.052715	0.40963	21.3	0.99914311623250862	0.98309	0.33520	0.24848	N	AEFBCI	.	.	.	-0.215019961954093	0.32517	1.834685	-0.190805715161787	0.31874	1.807931	0.29557067381037	0.19134	0.712529	0.81865	0	0.639134	0.57113	0	0.635938	0.45252	0	0.683672	0.66515	0	.	.	2.75	2.75	0.31439	1.145000	0.31189	3.725000	0.39599	0.318000	0.19305	0.001000	0.13787	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.7294:0.2706	7.033	0.24154	830	0.39242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	120.41	12	chr1	149455377	.	G	A	120.41	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.47;DP=201;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0301;MLEAC=1;MLEAF=0.025;MQ=24.24;MQRankSum=-2.960e-01;QD=9.26;ReadPosRankSum=0.838;SOR=1.179	GT:AD:DP:GQ:PL	0/1:7,6:13:99:134,0,160	19	0	1	1
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|1:164,17:181:99:0|1:149475995_C_T:205,0,6803:149475995	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|1:171,21:192:99:0|1:149475995_C_T:313,0,6936:149475995	15	0	6	0
chr1	149944086	149944086	G	T	exonic	OTUD7B	.	nonsynonymous SNV	OTUD7B:NM_020205:exon12:c.C2303A:p.P768H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.493	N	1.000	N	0.69	N	1.5	T	-0.952	T	0.013	T	0.085	-0.343	2.377	-1.27	-0.307	1.272	3.991	0.039	0.00668796475497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.723e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.36365	T	0.0	0.02946	B	0.0	0.01387	B	0.492767	0.12038	N	0.775970	1	0.08975	N	1.5	0.37844	L	1.5	0.31205	T	.	.	.	0.079	0.05414	-0.9522	0.40590	T	0.013	0.05177	T	9	0.0738807	0.11221	T	0.006688	0.17671	T	.	.	0.424	0.46857	0.227260227426	0.22338	0.14027752710669766	0.13950	.	.	0.272260308266	0.06438	T	0.02019	0.15942	T	-0.287627	0.09875	T	-0.650933	0.08890	T	0.0144502557814121	0.00292	T	0.365963	0.08520	T	0.06450719	0.13693	0.05777035	0.10561	0.06450719	0.13693	0.05777035	0.10561	-4.613	0.32335	T	.	.	0.080	0.07745	B	.	.	1.422825	0.18399	13.71	0.67381891660833093	0.08338	0.12627	0.17383	N	AEFBI	0.125521	0.24207	N	-0.99888411583591	0.08627	0.4052642	-1.0242728683202	0.09252	0.4592645	0.998551054546306	0.37186	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.61	-1.27	0.08863	1.764000	0.38100	1.537000	0.27200	-0.154000	0.11915	0.012000	0.18695	0.816000	0.27083	0.972000	0.54974	0.0804:0.1234:0.3694:0.4268	3.991	0.09027	226	0.91233	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	283.11	35	chr1	149944086	.	G	T	283.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.080e+00;DP=823;ExcessHet=0.1072;FS=65.825;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=1.74;ReadPosRankSum=1.23;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,13:86:99:0|1:149944085_G_T:191,0,2875:149944085	19	0	2	0
chr1	149944087	149944087	G	T	exonic	OTUD7B	.	nonsynonymous SNV	OTUD7B:NM_020205:exon12:c.C2302A:p.P768T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.001	B	0.493	N	1.000	N	0.69	N	1.54	T	-0.945	T	0.015	T	0.146	-1.272	0.044	0.298	-0.026	0.286	6.053	0.015	0.00590379492938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	2.519e-05	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.629	0.07220	T	0.0	0.02946	B	0.001	0.04355	B	0.492767	0.12038	N	0.775970	1	0.08975	N	0.95	0.23787	L	1.54	0.30133	T	.	.	.	0.094	0.07398	-0.9453	0.41764	T	0.015	0.05946	T	9	0.06741443	0.09390	T	0.005904	0.15371	T	.	.	0.395	0.42099	0.210429274316	0.20668	0.16332771869896884	0.16252	.	.	0.265418171883	0.05552	T	0.020884	0.16359	T	-0.292316	0.09404	T	-0.657668	0.08424	T	0.0223200496208559	0.00945	T	0.609739	0.23084	T	0.042331636	0.06401	0.05927691	0.11097	0.042331636	0.06400	0.05927691	0.11096	-5.126	0.38180	T	.	.	0.068	0.02670	B	.	.	0.227054	0.06087	2.531	0.32260726470064655	0.01860	0.35550	0.25328	N	AEFBI	0.100762	0.20253	N	-0.971315924865266	0.09220	0.4354749	-0.981618169799121	0.10198	0.5121202	0.998403678352649	0.36906	0.615465	0.37627	0	0.577304	0.33150	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.61	0.298	0.15015	0.179000	0.16653	0.002000	0.13306	-0.127000	0.13314	0.000000	0.06391	0.063000	0.22074	0.972000	0.54974	0.1917:0.4541:0.3542:0.0	6.053	0.19022	226	0.91233	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	176.98	35	chr1	149944087	.	G	T	176.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.505e+00;DP=782;ExcessHet=0.0000;FS=34.234;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.06;ReadPosRankSum=0.050;SOR=5.282	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,13:86:99:0|1:149944085_G_T:191,0,2875:149944085	20	0	1	0
chr1	151518550	151518550	C	T	exonic	CGN	.	nonsynonymous SNV	CGN:NM_020770:exon2:c.C31T:p.R11W,	.	.	437	1061	24	0	0	24	0.0111836	.	.	731726	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.895	P	0.006	N	1.000	N	1.79	L	0.76	T	-0.819	T	0.230	T	0.346	3.224	16.80	1.95	0.352	0.588	8.184	0.136	0.0478829997555	0.0018	0.000599042	0.0028	0.0002	0.0069	0.0001	0	0.0035	0.0067	0.0011	0.0024838	384	154602	rs144766457	0.0017	0.0017	0.0017	0.0018	0.0191	0.0017	0.0016	0.0162	0.0151	0.0005	0.0044	0.0298	7.58e-05	0	0.0191	0.0010	0.0040	0.0010	0.0020	0.0020	0.0022	0.0017	0.0031	0.0018	0.0017	0.0024	0.0022	0.0003	0	0.0031	0.0335	0	0	0.0136	0.0015	0.0057	0.0004	0.031	0.47320	D	0.005	0.72224	D	.	.	.	.	.	.	0.006353	0.32094	N	0.330224	0.999953	0.19072	N	.	.	.	0.76	0.66474	T	-2.57	0.55501	D	0.37	0.41162	-0.8191	0.53990	T	0.230	0.59595	T	10	0.0065971613	0.00149	T	0.047883	0.63125	D	0.136	0.36778	.	.	0.540243489925	0.53678	0.18238191413688404	0.18157	0.637029871856	0.57456	0.450696766376	0.32039	T	0.042694	0.26264	T	-0.366999	0.03748	T	-0.294254	0.45329	T	0.0707966587591974	0.08761	T	0.771723	0.40231	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.41708	B	.;.;.;.	.;.;.;.	3.995823	0.58848	24.0	0.99872361705083901	0.94989	0.76947	0.37782	D	AEFBI	0.343454	0.43926	N	0.130253672131267	0.47878	3.007467	0.0656810671519602	0.42836	2.598033	0.00726268339345058	0.11424	0.732398	0.92422	0	0.610034	0.51514	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	4.95	1.95	0.25130	0.370000	0.20166	1.017000	0.23376	-0.835000	0.02838	0.888000	0.31154	0.745000	0.26509	0.701000	0.34172	0.269:0.6555:0.0:0.0755	8.184	0.30491	412	0.82007	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1185.98	33	chr1	151518550	.	C	T	1185.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.225e+00;DP=824;ExcessHet=0.0000;FS=3.444;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=-8.100e-02;SOR=0.415	GT:AD:DP:GQ:PL	0/1:68,53:121:99:1200,0,1814	20	0	1	0
chr1	151767275	151767275	C	A	exonic	OAZ3	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.004	B	0.004	B	0.403	N	0.990	N	1.735	L	1.47	T	-0.993	T	0.022	T	0.132	0.954	8.892	-0.291	-0.194	-0.604	3.896	0.065	0.00665639150986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs148840917	9.579e-06	9.577e-06	9.53e-06	9.628e-06	0.0002	5.56e-06	4.35e-06	5.31e-06	3.88e-06	0	0	0	0	0	0.0002	9.894e-06	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.269	0.16091	T	0.149	0.32568	T	.	.	.	.	.	.	0.402874	0.13101	N	0.709498	0.999983	0.24188	N	.	.	.	1.39	0.34253	T	0.16	0.05217	N	0.334	0.37509	-0.9925	0.31959	T	0.022	0.09375	T	10	0.06799665	0.09555	T	0.006656	0.17557	T	0.065	0.18881	.	.	0.0884992946249	0.08302	0.22398453975536528	0.22313	0.138873224339	0.15659	0.289230167866	0.08811	T	0.068147	0.47662	T	-0.286887	0.09951	T	-0.64987	0.08963	T	0.0467898026108742	0.04928	T	0.562944	0.20238	T	0.03296765	0.03424	0.044831026	0.05896	0.03296765	0.03423	0.044831026	0.05896	-2.043	0.03622	T	.	.	0.096	0.23290	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.087610	0.04920	1.497	0.85504596175942049	0.15934	0.01901	0.05828	N	AEFDBI	0.068501	0.13515	N	-0.831471756183929	0.12510	0.6102709	-0.871554336937907	0.12770	0.6588111	0.757900824153104	0.23464	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.43	-0.291	0.12207	-0.581000	0.05913	-1.818000	0.04670	-0.189000	0.09497	0.000000	0.06391	0.000000	0.08366	0.140000	0.19946	0.4681:0.3257:0.1262:0.08	3.896	0.08644	296	0.88164	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	891.98	33	chr1	151767275	.	C	A	891.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.453;DP=791;ExcessHet=0.0000;FS=0.862;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=-1.484e+00;SOR=0.846	GT:AD:DP:GQ:PL	0/1:42,38:80:99:906,0,953	20	0	1	0
chr1	152108746	152108746	C	T	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.G4471A:p.E1491K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.053	B	0.031	B	.	.	1.000	N	1.545	L	3.28	T	-0.903	T	0.005	T	0.17	1.217	9.940	2.36	0.596	1.198	4.605	0.014	0.00292017188455	.	.	4.144e-05	0	8.648e-05	0	0	5.999e-05	0	0	3.23e-05	5	154602	rs767349778	5.473e-06	5.473e-06	6.807e-06	4.126e-06	4.477e-05	2.35e-06	1.7e-06	7.42e-06	2.78e-06	0	4.477e-05	0	2.521e-05	0	0	4.497e-06	0	0	6.597e-06	6.581e-06	0	1.351e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.021	0.49117	D	0.023	0.57104	D	0.053	0.22573	B	0.031	0.21939	B	.	.	.	.	1	0.08975	N	2.1	0.58353	M	3.28	0.06523	T	-1.22	0.30964	N	0.222	0.24883	-0.9032	0.47650	T	0.005	0.01615	T	9	0.062284082	0.07939	T	0.00292	0.06192	T	0.014	0.01968	0.286	0.24440	0.363944505237	0.36005	0.03981531059755741	0.03927	0.298544427098	0.32233	0.360896945	0.19516	T	0.001832	0.01251	T	-0.38871	0.02742	T	-0.620284	0.11163	T	0.0513050250949089	0.05727	T	0.632437	0.24680	T	0.11518771	0.27184	0.15396011	0.36155	0.11518771	0.27183	0.15396011	0.36154	-8.108	0.61805	D	.	.	0.500	0.64577	A	.;.	.;.	1.878279	0.23857	16.18	0.85660308862566981	0.16032	0.10664	0.16106	N	AEFDBCI	0.079074	0.15964	N	-0.970863623799702	0.09230	0.4359834	-1.01241045216558	0.09511	0.4736541	0.999792411315335	0.43153	0.764865	0.99124	0	0.627178	0.54094	0	0.731555	0.93304	0	0.56751	0.32155	0	.	.	3.28	2.36	0.28258	-0.087000	0.11181	.	.	-0.287000	0.06331	0.001000	0.13787	0.000000	0.08366	0.007000	0.07825	0.0:0.6424:0.2274:0.1301	4.605	0.11761	478	0.77585	.;.	.	.	.	.	.	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	3402.98	166	chr1	152108746	.	C	T	3402.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=3398;ExcessHet=0.0000;FS=7.335;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.83;MQRankSum=1.67;QD=12.33;ReadPosRankSum=0.952;SOR=0.591	GT:AD:DP:GQ:PL	0/1:144,132:276:99:3417,0,3677	20	0	1	0
chr1	152306202	152306202	C	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G8684A:p.S2895N,	Ichthyosis vulgaris, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.999	D	0.998	D	.	.	1.000	N	2.19	M	3.13	T	-1.070	T	0.027	T	0.08	1.038	9.241	1.27	0.181	0.697	5.966	0.037	0.00107624909101	.	.	6.688e-05	0	8.639e-05	0	0	0.0001	0	0	3.84e-05	1	26028	rs372777418	2.674e-05	3.081e-05	2.866e-05	2.48e-05	0.0003	2.002e-05	1.758e-05	6.096e-05	3.953e-05	0	0.0001	0	0	0	0.0003	2.248e-05	9.952e-05	0	4.824e-05	5.338e-05	4.047e-05	5.636e-05	8.818e-05	2.202e-05	1.587e-05	3.761e-05	2.575e-05	0	0	6.585e-05	0	0	0	0	8.818e-05	0	0	0.021	0.49117	D	.	.	.	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	1	0.08975	N	2.47	0.71715	M	3.13	0.08014	T	-1.13	0.29114	N	0.174	0.18649	-1.0704	0.09326	T	0.027	0.11574	T	9	0.21489269	0.38025	T	0.001076	0.01239	T	0.037	0.09474	0.433	0.48336	0.315314060047	0.31143	0.02345040539584384	0.02297	.	.	0.351606398821	0.18158	T	0.024679	0.18600	T	-0.481387	0.00726	T	-0.67421	0.07341	T	0.0673614762093186	0.08276	T	0.517648	0.16760	T	0.099454716	0.23471	0.08524934	0.19670	0.099454716	0.23471	0.08524934	0.19669	-10.415	0.76357	D	.	.	0.285	0.51712	B	.	.	1.597302	0.20426	14.74	0.72719342889917182	0.10072	0.02780	0.07486	N	AEFI	0.034454	0.04269	N	-0.274314383173656	0.30143	1.678051	-0.555023117440332	0.20673	1.114853	1.47713207541423E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.27	1.27	0.20595	0.799000	0.26688	.	.	0.424000	0.20830	0.006000	0.17386	0.000000	0.08366	0.061000	0.16044	0.0:0.7479:0.0:0.2521	5.966	0.18561	560	0.71333	.	.	.	.	.	.	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	5711.98	73	chr1	152306202	.	C	T	5711.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=5226;ExcessHet=0.0000;FS=1.339;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.98;MQRankSum=1.80;QD=4.85;ReadPosRankSum=-1.186e+00;SOR=0.608	GT:AD:DP:GQ:PL	0/1:909,269:1178:99:5726,0,27422	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	0/1:554,178,0:732:99:.:.:3332,0,19321,4998,19855,24852	10	0	10	0
chr1	152827648	152827648	G	T	exonic	LCE1A	.	nonsynonymous SNV	LCE1A:NM_178348:exon1:c.G176T:p.G59V,	.	.	429	1083	10	0	0	10	0.00459559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.252	B	0.065	B	0.002	N	0.512	N	0.345	N	4.05	T	-0.921	T	0.004	T	0.247	1.405	10.63	4.33	2.396	4.241	12.484	0.053	.	0.0048	0.00279553	0.0071	0.0006	0.0026	0	0.0198	0.0077	0.0078	0.0099	0.0066299	1025	154602	rs137886860	0.0064	0.0064	0.0061	0.0066	0.0107	0.0062	0.0062	0.0102	0.0099	0.0005	0.0020	0.0027	2.519e-05	0.0181	0.0024	0.0062	0.0056	0.0107	0.0062	0.0063	0.0060	0.0065	0.0084	0.0059	0.0058	0.0078	0.0076	0.0010	0.0537	0.0026	0.0029	0.0002	0.0176	0.0034	0.0084	0.0047	0.0083	.	.	.	0.037	0.51737	D	0.252	0.31228	B	0.065	0.27321	B	0.001619	0.38497	N	0.000000	0.511832	0.31641	N	0.975	0.24501	L	4.05	0.03092	T	0.1	0.05810	N	0.327	0.36779	-0.9207	0.45458	T	0.004	0.01261	T	10	0.0056049526	0.00124	T	.	.	.	0.053	0.14996	.	.	0.42573502686	0.42190	0.02000986391656538	0.01953	0.00632469907816	0.00551	.	.	.	0.013973	0.11984	T	-0.551778	0.00285	T	-0.555972	0.16757	T	0.0141190291080568	0.00276	T	.	.	.	0.28463754	0.51490	0.29991361	0.56025	0.28463754	0.51490	0.29991361	0.56024	-8.34	0.63364	D	.	.	0.139	0.30423	B	.	.	2.033724	0.25852	16.91	0.92754091606875322	0.22261	0.96048	0.67297	D	AEFBI	0.289958	0.40147	N	-0.0558428762478233	0.39341	2.318482	0.0934079522935043	0.44217	2.707679	0.0109707312120962	0.12109	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.33	4.33	0.51083	4.706000	0.61534	.	.	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.124000	0.19330	0.0:0.0:1.0:0.0	12.484	0.55203	761	0.50382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1043.98	37	chr1	152827648	.	G	T	1043.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.478;DP=765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=-8.430e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/1:38,37:75:99:1058,0,1047	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	0/1:9,11,0,0:20:99:380,0,350,412,383,795,412,383,795,795	3	4	8	2
chr1	153563524	153563524	G	A	exonic	S100A2	.	nonsynonymous SNV	S100A2:NM_001366406:exon2:c.C157T:p.P53S,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	1.000	N	.	.	.	.	-0.928	T	0.055	T	0.044	-0.650	1.139	-4.14	-1.122	-0.302	9.702	0.026	0.00151584103915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.145e-06	2.052e-06	1.411e-06	2.899e-06	0.0004	5.7e-07	1.6e-07	6.161e-05	2.547e-05	0	0	0	0	0	0.0004	0	1.724e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.605	0.07816	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	.	.	.	-0.56	0.17003	N	0.047	0.01911	-0.9283	0.44386	T	0.055	0.23375	T	5	0.073568255	0.11133	T	0.001516	0.02343	T	0.026	0.05648	0.334	0.32167	0.143124449307	0.13826	.	.	.	.	.	.	.	.	.	.	-0.368111	0.03691	T	-0.766543	0.02883	T	0.047491422956373	0.05053	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.177570	0.03206	0.532	0.7036115541130642	0.09270	0.00843	0.03376	N	AEFDBCI	0.014372	0.00226	N	-1.14539936295455	0.05855	0.2680535	-1.37631167149415	0.03506	0.1636781	0.999996464571889	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.514364	0.09456	0	0.567892	0.33627	0	.	.	2.93	-4.14	0.03628	-0.524000	0.06309	-2.959000	0.03191	-1.027000	0.01708	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7438:0.0:0.2562:0.0	9.702	0.39357	789	0.46346	S-100	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	994.98	33	chr1	153563524	.	G	A	994.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.969;DP=835;ExcessHet=0.0000;FS=0.793;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=1.74;SOR=0.578	GT:AD:DP:GQ:PL	0/1:46,43:89:99:1009,0,1043	20	0	1	0
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.992	D	0.986	D	0.000	D	0.999	D	1.31	L	.	.	-0.865	T	0.172	T	0.819	4.131	21.3	2.28	0.340	1.167	8.751	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	2593.87	40	chr1	153760378	.	C	G	2593.87	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.650e+00;DP=2714;ExcessHet=17.4423;FS=282.183;InbreedingCoeff=-0.5203;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.34;ReadPosRankSum=0.949;SOR=11.919	GT:AD:DP:GQ:PL	0/1:90,54:150:99:179,0,1180	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	0/3:38,0,0,14,0,0,0:53:99:748,882,3012,882,3012,3012,0,1727,1727,1539,882,3012,3012,1727,3012,882,3012,3012,1727,3012,3012,882,3012,3012,1727,3012,3012,3012	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	0/3:38,0,0,14,0,0,0:53:99:748,882,3012,882,3012,3012,0,1727,1727,1539,882,3012,3012,1727,3012,882,3012,3012,1727,3012,3012,882,3012,3012,1727,3012,3012,3012	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	0/3:38,0,0,14,0,0,0:53:99:748,882,3012,882,3012,3012,0,1727,1727,1539,882,3012,3012,1727,3012,882,3012,3012,1727,3012,3012,882,3012,3012,1727,3012,3012,3012	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	0/3:38,0,0,14,0,0,0:53:99:748,882,3012,882,3012,3012,0,1727,1727,1539,882,3012,3012,1727,3012,882,3012,3012,1727,3012,3012,882,3012,3012,1727,3012,3012,3012	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	0/3:38,0,0,14,0,0,0:53:99:748,882,3012,882,3012,3012,0,1727,1727,1539,882,3012,3012,1727,3012,882,3012,3012,1727,3012,3012,882,3012,3012,1727,3012,3012,3012	0	1	0	0
chr1	155320470	155320470	T	A	exonic	FDPS	.	nonsynonymous SNV	FDPS:NM_001242825:exon9:c.T608A:p.L203Q	Porokeratosis 9, multiple types	.	430	1083	9	0	0	9	0.00413793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.895	P	0.064	N	1.000	D	3.07	M	-0.33	T	-0.113	T	0.403	T	0.562	2.739	15.12	3.24	1.713	6.905	9.862	0.477	0.164527758541	0.0020	0.00119808	0.0022	0.0003	0.0002	0.0001	0.0014	0.0033	0.0011	0.0015	0.0022186	343	154602	rs61740152	0.0022	0.0022	0.0023	0.0022	0.0026	0.0022	0.0021	0.0026	0.0025	0.0005	0.0005	0.0002	0	0.0008	0.0020	0.0026	0.0020	0.0015	0.0017	0.0017	0.0020	0.0014	0.0029	0.0015	0.0014	0.0026	0.0025	0.0003	0	0.0016	0	0	0.0009	0.0034	0.0029	0.0014	0.0010	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.895	0.63489	P	0.064474	0.21951	N	0.229223	0.999996	0.58761	D	3.34	0.90961	M	-0.33	0.68329	T	-4.84	0.81030	D	0.623	0.67908	-0.1131	0.79795	T	0.403	0.75366	T	10	0.028853327	0.01014	T	0.164528	0.84361	D	0.477	0.76881	.	.	0.8772681325	0.87607	0.6823627310858766	0.68175	0.589853465164	0.54468	0.376375943422	0.21742	T	0.222246	0.92214	T	-0.206177	0.19922	T	-0.0710416	0.65551	T	0.0956143582361662	0.11867	T	0.852015	0.59406	D	0.84763294	0.87161	0.86183953	0.92305	0.84763294	0.87162	0.86183953	0.92305	-13.089	0.90940	D	0.5888883378111605	0.65567	0.633	0.70231	P	.;.;.;.;.;.	.;.;.;.;.;.	4.930458	0.81284	27.5	0.9943368253449838	0.64374	0.97266	0.73678	D	AEFBHCI	0.929440	0.91520	D	0.553478176502661	0.70295	5.480513	0.401260482501789	0.61642	4.367358	0.99999999805431	0.74766	0.72623	0.87236	0	0.698795	0.70079	0	0.594344	0.31042	0	0.735409	0.98432	0	.	.	3.24	3.24	0.36257	6.877000	0.75363	6.123000	0.53812	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.764000	0.36293	0.0:0.0:0.0:1.0	9.862	0.40287	41	0.97903	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1623.98	34	chr1	155320470	.	T	A	1623.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.130e-01;DP=817;ExcessHet=0.0000;FS=4.984;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.18;ReadPosRankSum=0.134;SOR=1.246	GT:AD:DP:GQ:PL	0/1:51,56:107:99:1638,0,1440	20	0	1	0
chr1	156011822	156011822	G	C	exonic	SSR2	.	nonsynonymous SNV	SSR2:NM_003145:exon5:c.C429G:p.F143L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.984	D	0.87	P	0.000	D	1.000	D	2.555	M	.	.	-0.257	T	0.378	T	0.881	2.778	15.25	5.55	2.894	4.402	17.055	0.184	0.18042830021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.568e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.91255	D	0.031	0.55341	D	0.984	0.60733	D	0.87	0.61806	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.79	0.81396	M	.	.	.	-5.39	0.85994	D	0.84	0.83576	-0.2573	0.76161	T	0.378	0.73580	T	9	0.9662193	0.96110	D	0.180428	0.85489	D	0.551	0.81427	0.936	0.99075	0.416446257289	0.41261	0.8283436009707257	0.82792	1.40670516952	0.85333	0.792496502399	0.80822	T	0.534141	0.83931	D	0.416006	0.90809	D	0.359788	0.90695	D	0.99421751499176	0.85377	D	0.939106	0.80601	D	0.76359487	0.81666	0.72925085	0.84003	0.76359487	0.81667	0.72925085	0.84004	-10.5	0.76847	D	.	.	1.000	0.99795	P	.;.;.	.;.;.	5.067605	0.84496	28.3	0.91990689601245867	0.21324	0.98329	0.81685	D	AEFGBI	0.901337	0.84791	D	0.542252554756067	0.69612	5.381701	0.583687799372267	0.73772	6.02523	0.999999999487927	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.55	5.55	0.83298	4.832000	0.62449	6.328000	0.55455	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.055	0.86406	196	0.92420	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3929	2240.58	53	chr1	156011822	.	G	A,C	2240.58	.	AC=10,1;AF=0.357,0.036;AN=28;BaseQRankSum=-2.019e+00;DP=1509;ExcessHet=7.7275;FS=191.539;InbreedingCoeff=-0.5270;MLEAC=13,1;MLEAF=0.464,0.036;MQ=60.00;MQRankSum=0.00;QD=2.34;ReadPosRankSum=0.481;SOR=10.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,10,0:71:23:0|1:156011822_G_A:23,0,1980,205,2010,2215:156011822	3	0	10	7
chr1	156242569	156242569	T	C	exonic	BGLAP;PMF1-BGLAP	.	nonsynonymous SNV	PMF1-BGLAP:NM_001199664:exon3:c.T374C:p.V125A	.	.	398	1111	13	0	0	13	0.00581655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.001	B	0.001	B	0.013	N	1.000	N	.	.	0.91	T	-1.094	T	0.021	T	0.121	2.445	14.13	-5.88	-1.148	-2.989	6.619	0.019	0.00436130373927	0.0014	0.00119808	0.0026	0.0007	0.0022	0	0	0.0016	0	0.0048	0.0013907	215	154602	rs35330985	0.0027	0.0026	0.0026	0.0028	0.0046	0.0026	0.0026	0.0042	0.0041	0.0004	0.0009	0.0002	0	0.0008	0.0026	0.0029	0.0020	0.0046	0.0020	0.0020	0.0020	0.0020	0.0056	0.0018	0.0017	0.0040	0.0034	0.0004	0	0.0020	0	0	0.0011	0	0.0031	0.0038	0.0056	0.016	0.51853	D	0.013	0.63109	D	.	.	.	.	.	.	0.012719	0.01343	N	2.752100	1	0.08975	N	.	.	.	0.49	0.55775	T	1.49	0.05125	N	0.151	0.30004	-1.0941	0.04884	T	0.021	0.08686	T	9	0.0056051314	0.00124	T	0.004361	0.10624	T	0.019	0.03383	.	.	0.302793454619	0.29890	0.04585283506902993	0.04529	0.357108017976	0.37442	0.404913425446	0.25752	T	.	.	.	-0.60425	0.00137	T	-0.639235	0.09724	T	0.0160264053849802	0.00383	T	0.189081	0.01998	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24020	B	.;.	.;.	-0.186111	0.03161	0.514	0.8224852364650922	0.14094	0.00673	0.02898	N	AEFDGBCI	0.015157	0.00276	N	-1.5374040316263	0.01609	0.07034905	-1.64617073349561	0.01396	0.06307601	0.999999997225474	0.74766	0.634777	0.41761	0	0.694456	0.67091	0	0.643519	0.47002	0	0.508809	0.08732	0	.	.	4.3	-5.88	0.02100	-3.070000	0.00681	-2.808000	0.03340	-1.503000	0.01026	0.000000	0.06391	0.000000	0.08366	0.081000	0.17303	0.122:0.5891:0.1238:0.1651	6.619	0.21988	299	0.88026	.;.	.	.	.	.	.	Uncertain significance	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	595.98	36	chr1	156242569	.	T	C	595.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=774;ExcessHet=0.0000;FS=1.112;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=0.088;SOR=0.505	GT:AD:DP:GQ:PL	0/1:28,22:50:99:610,0,725	20	0	1	0
chr1	156791748	156791748	C	A	exonic	PRCC	.	nonsynonymous SNV	PRCC:NM_005973:exon4:c.C1135A:p.P379T,	Renal cell carcinoma, papillary	.	8	1510	4	0	0	4	0.00132275	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.004	B	0.003	B	0.273	N	0.558	N	0.345	N	0.92	T	-0.999	T	0.019	T	0.129	0.564	7.049	-1.04	-0.094	-0.090	6.342	0.051	.	0.0074	0.00419329	0.0088	0.0022	0.0022	0	0.0241	0.0099	0.0066	0.0120	0.0082599	1277	154602	rs17850664	0.0097	0.0097	0.0096	0.0098	0.0126	0.0096	0.0095	0.0120	0.0117	0.0012	0.0023	0.0082	2.52e-05	0.0210	0.0017	0.0101	0.0066	0.0126	0.0078	0.0078	0.0071	0.0084	0.0101	0.0074	0.0072	0.0094	0.0092	0.0015	0.0208	0.0037	0.0081	0	0.0255	0	0.0101	0.0047	0.0100	0.406	0.10278	T	0.838	0.03631	T	0.004	0.12183	B	0.003	0.08700	B	0.273053	0.15090	N	0.674960	0.999441	0.31282	N	0.695	0.17993	N	0.92	0.44461	T	-0.27	0.11366	N	0.229	0.25745	-0.9990	0.30199	T	0.019	0.07846	T	10	0.0023302138	0.00034	T	.	.	.	0.051	0.14325	.	.	0.0675242888579	0.06100	0.36327764446345334	0.36241	0.250569275448	0.27630	0.407111942768	0.26056	T	0.084966	0.37395	T	-0.619118	0.00111	T	-0.643172	0.09440	T	0.000319546863751928	0.00003	T	0.491551	0.15120	T	0.028137766	0.02107	0.031535756	0.01756	0.028137766	0.02107	0.031535756	0.01755	-5.432	0.41226	T	.	.	0.061	0.01026	B	.	.	0.660316	0.10287	7.021	0.58554512266040437	0.06020	0.18022	0.20087	N	AEFBI	0.133054	0.25258	N	-0.940513546303008	0.09907	0.4710127	-0.898883179262788	0.12120	0.6216219	0.112781638376097	0.16693	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	-1.04	0.09555	-0.075000	0.11392	-2.445000	0.03745	-0.190000	0.09434	0.001000	0.13787	0.000000	0.08366	0.893000	0.43066	0.1139:0.5723:0.0:0.3138	6.342	0.20533	671	0.60868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1374.98	34	chr1	156791748	.	C	A	1374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.029;DP=834;ExcessHet=0.0000;FS=2.305;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=-7.200e-01;SOR=0.512	GT:AD:DP:GQ:PL	0/1:65,56:121:99:1389,0,1673	20	0	1	0
chr1	157768450	157768450	G	A	exonic	FCRL2	.	nonsynonymous SNV	FCRL2:NM_001159488:exon5:c.C847T:p.P283S	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.021	B	0.607	N	1.000	N	0.93	L	3.03	T	-0.961	T	0.004	T	0.055	0.238	5.287	-0.855	-0.182	-0.144	3.915	0.029	0.00272137753386	.	.	5.773e-05	0	0	0	0	3e-05	0	0.0003	4.53e-05	7	154602	rs767963189	1.573e-05	1.573e-05	1.225e-05	1.925e-05	0.0002	1.048e-05	8.75e-06	0.0001	0.0001	0	0	0	0	0	0	5.396e-06	0	0.0002	1.972e-05	1.97e-05	0	4.035e-05	0.0004	5.24e-06	2.45e-06	7.301e-05	3.033e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.437	0.09346	T	0.355	0.17217	T	0.002	0.09854	B	0.019	0.18783	B	0.607098	0.05679	N	1.272160	1	0.08975	N	0.37	0.12060	N	3.03	0.08898	T	-3.7	0.70553	D	0.058	0.02964	-0.9605	0.39087	T	0.004	0.01261	T	10	0.049988687	0.04665	T	0.002721	0.05608	T	0.029	0.06676	0.298	0.26362	0.141422826196	0.13715	0.23281759799392385	0.23196	0.0487105635936	0.05321	0.245774447918	0.03336	T	0.202487	0.56067	T	-0.600297	0.00145	T	-0.807913	0.01712	T	0.0231276657432318	0.01038	T	0.541246	0.18358	T	0.065997645	0.14159	0.097799934	0.23292	0.065997645	0.14158	0.097799934	0.23291	-6.117	0.47248	T	.	.	0.092	0.13597	B	.	.	0.105367	0.05059	1.602	0.37488221593784599	0.02473	0.01753	0.05519	N	AEFGBI	0.060787	0.11577	N	-1.48534368723149	0.01953	0.08574672	-1.51409256321515	0.02236	0.1025012	0.00153688804731818	0.08622	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.89	-0.855	0.10158	0.075000	0.14547	0.331000	0.17284	-0.104000	0.15758	0.000000	0.06391	0.000000	0.08366	0.204000	0.22012	0.0963:0.2797:0.4805:0.1435	3.915	0.08721	764	0.49969	Immunoglobulin-like domain|Immunoglobulin-like domain|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	2217.98	34	chr1	157768450	.	G	A	2217.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.454e+00;DP=867;ExcessHet=0.0000;FS=2.644;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=-3.900e-01;SOR=0.522	GT:AD:DP:GQ:PL	0/1:86,88:174:99:2232,0,2340	20	0	1	0
chr1	159826903	159826903	T	A	exonic	SLAMF8	.	nonsynonymous SNV	SLAMF8:NM_001330741:exon1:c.T5A:p.V2D	.	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.0	B	0.103	U	1.000	N	0	N	3.39	T	-1.008	T	0.019	T	0.363	0.327	5.774	2.88	0.232	0.787	4.101	0.056	0.00717819440553	.	0.000199681	0.0002	0	8.637e-05	0	0	0.0001	0	0.0008	0.0002135	33	154602	rs201120920	0.0001	0.0001	0.0001	0.0002	0.0008	0.0001	0.0001	0.0006	0.0006	0	2.236e-05	0	0	0	0.0007	0.0001	0.0001	0.0008	7.227e-05	7.219e-05	6.428e-05	8.062e-05	0.0008	3.971e-05	3.127e-05	0.0003	0.0002	0	0	0	0	0	0	0.0068	7.353e-05	0	0.0008	0.008	0.91255	D	0.014	0.62352	D	0.0	0.02946	B	0.0	0.01387	B	0.102890	0.19772	U	0.376285	1	0.08975	N	0	0.06538	N	3.39	0.45248	T	0.29	0.39119	N	0.305	0.34444	-1.0084	0.27416	T	0.019	0.07800	T	10	0.017070293	0.00362	T	0.007178	0.19034	T	0.056	0.15993	0.348	0.34436	0.159798565429	0.15598	0.6072453185574908	0.60656	0.0893861974154	0.10103	0.590074300766	0.51504	T	0.008193	0.07532	T	-0.423552	0.01624	T	-0.475094	0.24968	T	0.0388016178175652	0.03475	T	0.323368	0.06588	T	0.07178514	0.15919	0.09704478	0.23083	0.07178514	0.15919	0.09704478	0.23082	-2.771	0.12202	T	.	.	0.104	0.24020	B	.;.	.;.	1.562697	0.20012	14.55	0.78747315788386296	0.12435	0.11854	0.16904	N	AEFBCI	0.059585	0.11263	N	-1.15487880353692	0.05700	0.2605417	-1.08906060916705	0.07915	0.3869425	0.999847895789174	0.43971	0.497415	0.19182	0	0.607795	0.50457	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.8	2.88	0.32617	0.810000	0.26841	0.044000	0.13909	-0.947000	0.02050	0.567000	0.27481	0.000000	0.08366	0.037000	0.13953	0.1841:0.6228:0.0:0.1931	4.101	0.09485	812	0.42537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1450.98	39	chr1	159826903	.	T	A	1450.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.862;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=0.220;SOR=0.723	GT:AD:DP:GQ:PL	0/1:60,61:121:99:1465,0,1346	20	0	1	0
chr1	159886572	159886572	G	A	exonic	CFAP45	.	nonsynonymous SNV	CFAP45:NM_012337:exon6:c.C706T:p.R236W,	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	2.82	M	2.42	T	-1.042	T	0.081	T	0.645	3.943	20.2	3.63	0.681	1.153	8.858	0.218	0.0556038758571	.	.	0.0001	0.0003	0.0002	0.0005	0	2.997e-05	0	0.0004	0.0001294	20	154602	rs112160389	6.362e-05	6.362e-05	4.492e-05	8.251e-05	0.0005	5.295e-05	4.911e-05	0.0003	0.0003	5.974e-05	0.0001	0	5.038e-05	0	0	3.238e-05	0.0001	0.0005	7.235e-05	7.226e-05	5.142e-05	9.427e-05	0.0006	3.975e-05	3.13e-05	0.0002	9.011e-05	4.833e-05	0	0.0001	0	0.0004	0	0	1.47e-05	0.0005	0.0006	0.093	0.32769	T	0.1	0.40586	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	.	.	.	2.42	0.15376	T	-7.04	0.93833	D	0.382	0.42345	-1.0417	0.16800	T	0.081	0.31943	T	9	0.14945376	0.28284	T	0.055604	0.66296	D	0.218	0.51265	.	.	0.315314060047	0.31143	0.675037532265878	0.67441	0.413938751343	0.42082	0.545284330845	0.45192	T	0.178635	0.52935	T	-0.282582	0.10395	T	-0.339139	0.40443	T	0.575100660324097	0.35430	D	0.921608	0.72182	D	0.47525144	0.65611	0.39596504	0.64250	0.47525144	0.65612	0.39596504	0.64250	-11.577	0.82729	D	.	.	0.249	0.48376	B	.;.	.;.	4.079997	0.60688	24.2	0.99861641902565568	0.94002	0.83428	0.42546	D	AEFBI	0.645517	0.62138	D	0.309620255777565	0.56640	3.829142	0.238299351290457	0.51986	3.37671	0.999903131437726	0.45458	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.51	3.63	0.40741	1.328000	0.33364	0.764000	0.21339	-0.129000	0.13216	0.973000	0.34540	0.174000	0.23367	0.988000	0.63387	0.079:0.0:0.7723:0.1487	8.858	0.34397	840	0.37365	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2587.98	33	chr1	159886572	.	G	A	2587.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.890e-01;DP=911;ExcessHet=0.0000;FS=8.064;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=-5.580e-01;SOR=0.661	GT:AD:DP:GQ:PL	0/1:95,104:199:99:2602,0,2311	20	0	1	0
chr1	160171381	160171381	T	G	exonic	ATP1A4	.	nonsynonymous SNV	ATP1A4:NM_144699:exon11:c.T1622G:p.M541R,	.	.	428	1086	8	0	0	8	0.00366972	.	.	731797	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.77	P	0.553	P	0.000	D	1.000	D	-0.225	N	-1.21	T	-0.674	T	0.161	T	0.769	1.378	10.54	3.32	1.991	0.628	7.934	0.434	.	7.7e-05	0.0171725	0.0071	0.0003	0.0065	0.0869	0	4.495e-05	0.0044	0.0019	0.0068304	1056	154602	rs16831482	0.0022	0.0022	0.0023	0.0022	0.0611	0.0022	0.0022	0.0591	0.0582	0.0003	0.0055	0.0002	0.0611	0	0.0002	5.036e-05	0.0057	0.0022	0.0033	0.0033	0.0027	0.0040	0.0768	0.0031	0.0030	0.0705	0.0681	0.0002	0	0.0036	0	0.0768	0	0	4.411e-05	0.0043	0.0064	0.037	0.43085	D	0.39	0.15506	T	0.77	0.43887	P	0.553	0.49313	P	0.000007	0.62929	D	0.144052	0.883982	0.35809	D	-0.685	0.02019	N	-1.21	0.78645	T	-3.37	0.66665	D	0.306	0.34552	-0.6743	0.61634	T	0.161	0.49598	T	10	0.0025234818	0.00038	T	.	.	.	0.434	0.73951	.	.	0.89566607057	0.89463	0.8675511407332795	0.86720	0.514949807208	0.49418	0.411724627018	0.26695	T	0.345406	0.71380	T	-0.248018	0.14343	T	-0.0622307	0.66176	T	0.0486012126319249	0.05252	T	0.833317	0.50212	T	0.6841796	0.77195	0.5537717	0.74194	0.6841796	0.77196	0.5537717	0.74195	-8.529	0.64621	D	.	.	0.219	0.44973	B	.	.	2.846573	0.37571	20.5	0.94838631062208512	0.25627	0.84110	0.43194	D	AEFDBI	0.309233	0.41560	N	-0.262965702104028	0.30588	1.707046	-0.288904992484346	0.28462	1.587208	0.999836376108437	0.43792	0.559995	0.30671	0	0.491513	0.07743	0	0.527494	0.11647	0	0.530356	0.10902	0	.	.	4.43	3.32	0.37134	0.666000	0.24779	1.867000	0.29361	0.665000	0.62972	0.912000	0.31733	1.000000	0.68203	0.080000	0.17246	0.0:0.1004:0.0:0.8996	7.934	0.29080	407	0.82314	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	473.98	33	chr1	160171381	.	T	G	473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.020;DP=794;ExcessHet=0.0000;FS=0.940;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.32;ReadPosRankSum=-1.833e+00;SOR=0.711	GT:AD:DP:GQ:PL	0/1:52,23:75:99:488,0,1383	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|1:24,27,0:51:99:0|1:160681123_A_G:787,0,647,859,728,1587:160681123	17	0	2	0
chr1	160952631	160952631	T	G	exonic	ITLN2	.	nonsynonymous SNV	ITLN2:NM_080878:exon3:c.A182C:p.H61P,	.	.	415	1075	29	3	0	35	0.0160183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.004	B	0.731	N	1.000	N	-0.65	N	-2.88	D	-0.785	T	0.174	T	0.064	-0.034	3.839	-7.9	-2.805	-6.326	10.375	0.246	.	0.0017	0.00878594	0.0060	0.0014	0.0018	0.0002	0	0.0014	0.0044	0.0360	0.0052845	817	154602	rs145457015	0.0031	0.0031	0.0022	0.0040	0.0349	0.0030	0.0030	0.0338	0.0334	0.0019	0.0020	0.0057	0.0001	0	0.0186	0.0007	0.0052	0.0349	0.0024	0.0024	0.0017	0.0031	0.0361	0.0022	0.0021	0.0317	0.0300	0.0014	0	0.0028	0.0058	0	0	0.0238	0.0009	0.0038	0.0361	0.369	0.11586	T	0.349	0.17531	T	0.0	0.02946	B	0.004	0.10090	B	0.730523	0.06367	N	1.289890	1	0.08975	N	-1.715	0.00343	N	-2.88	0.91533	D	0.42	0.03352	N	0.07	0.04307	-0.7854	0.55996	T	0.174	0.51737	T	10	0.00195539	0.00027	T	.	.	.	0.246	0.55340	.	.	0.306695030598	0.30287	0.6813713267727941	0.68076	0.233258079454	0.25858	0.266414523125	0.05678	T	6.36E-4	0.00271	T	-0.525994	0.00406	T	-0.50187	0.22155	T	0.0188330080294908	0.00594	T	0.0519948	0.00371	T	0.035705317	0.04255	0.05587002	0.09879	0.035705317	0.04254	0.05587002	0.09878	-2.982	0.09988	T	.	.	0.050	0.00139	B	.	.	-1.238282	0.00494	0.011	0.47869626452454483	0.03948	0.00173	0.01021	N	AEFDBI	0.017984	0.00511	N	-2.03473480934051	0.00178	0.007625525	-2.11489416869324	0.00173	0.007610659	0.999999976234191	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	3.95	-7.9	0.01035	-6.481000	0.00079	-14.247000	0.00413	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.1869:0.1496:0.6635	10.375	0.43262	616	0.66398	Fibrinogen, alpha/beta/gamma chain, C-terminal globular 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	1037.98	34	chr1	160952631	.	T	G	1037.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.886;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.31;ReadPosRankSum=-4.520e-01;SOR=0.776	GT:AD:DP:GQ:PL	0/1:35,43:78:99:1052,0,764	20	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N	.	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.001	B	0.168	N	1.000	N	0.14	N	3.07	T	-0.940	T	0.010	T	0.017	-0.308	2.533	2.21	0.223	-1.239	2.806	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	5512.66	190	chr1	161048864	.	C	G	5512.66	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-5.721e+00;DP=4354;ExcessHet=20.9642;FS=217.040;InbreedingCoeff=-0.6084;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=1.61;ReadPosRankSum=1.77;SOR=13.867	GT:AD:DP:GQ:PL	0/1:170,67:246:99:458,0,3656	5	0	16	0
chr1	161958601	161958601	G	T	exonic	ATF6	.	nonsynonymous SNV	ATF6:NM_007348:exon16:c.G1960T:p.A654S,	Achromatopsia 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.009	B	0.014	B	0.005	N	0.998	N	-0.55	N	2.51	T	-0.925	T	0.003	T	0.124	-0.263	2.735	2.12	0.530	0.466	4.046	0.021	0.00297079685925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.552	0.06543	T	0.882	0.03205	T	0.009	0.15093	B	0.014	0.16862	B	0.004977	0.33218	N	0.286440	0.994787	0.23443	N	0	0.06538	N	2.51	0.14284	T	-0.05	0.07736	N	0.03	0.00717	-0.9246	0.44915	T	0.003	0.01059	T	9	0.03285855	0.01447	T	0.002971	0.06339	T	0.021	0.04004	0.12	0.02719	0.290590437066	0.28656	0.3526803789998004	0.35182	0.130674028925	0.14740	0.310588359833	0.11996	T	0.049829	0.28419	T	-0.316625	0.07178	T	-0.692587	0.06240	T	0.0821569338440895	0.10261	T	0.726827	0.34112	T	0.029277306	0.02396	0.035802227	0.02901	0.029277306	0.02395	0.035802227	0.02901	-3.074	0.11000	T	0.1119146244995682	0.09625	0.079	0.07365	B	.	.	0.526078	0.08949	5.729	0.7824991890908648	0.12220	0.49067	0.28349	N	ALL	0.317734	0.42164	N	-0.750709283477943	0.14614	0.7294479	-0.559120508678914	0.20563	1.10849	0.999999993014799	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.09	2.12	0.26372	0.814000	0.26897	0.256000	0.16486	0.676000	0.76740	0.002000	0.15269	0.000000	0.08366	0.455000	0.28006	0.2783:0.0:0.5597:0.162	4.046	0.09254	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	1261.98	38	chr1	161958601	.	G	T	1261.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.300;DP=942;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.47;ReadPosRankSum=-3.090e+00;SOR=0.658	GT:AD:DP:GQ:PL	0/1:92,57:149:99:1276,0,2257	20	0	1	0
chr1	162374586	162374586	T	C	exonic	SPATA46	.	nonsynonymous SNV	SPATA46:NM_182581:exon3:c.A248G:p.E83G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.033	B	0.046	B	0.013	N	0.947	N	1.67	L	1.35	T	-1.082	T	0.035	T	0.179	0.681	7.644	2.68	0.744	2.148	6.926	0.022	0.00665442542917	.	.	1.658e-05	0	0	0	0	0	0.0011	6.197e-05	1.29e-05	2	154602	rs745670990	9.581e-06	9.577e-06	4.085e-06	1.513e-05	0.0005	5.56e-06	4.35e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	0	6.627e-05	8.128e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.249	0.23776	T	0.033	0.20350	B	0.046	0.24676	B	0.012677	0.29095	N	0.292842	0.999272	0.21423	N	.	.	.	1.35	0.34648	T	-1.6	0.38540	N	0.141	0.14054	-1.0817	0.07022	T	0.035	0.14987	T	9	0.10187474	0.18640	T	0.006654	0.17557	T	0.022	0.04323	0.201	0.11522	0.436348499334	0.43257	0.47938346693118805	0.47858	0.0382343898037	0.04063	.	.	.	0.039862	0.25335	T	-0.251236	0.13946	T	-0.49803	0.22553	T	0.0975551307201385	0.12085	T	0.387861	0.09571	T	0.072308995	0.16077	0.13289218	0.31880	0.072308995	0.16076	0.13289218	0.31879	-3.772	0.20387	T	.	.	0.110	0.21125	B	.	.	2.279999	0.29155	18.03	0.97295009967985147	0.33252	0.80975	0.40480	D	AEFDGBI	0.132606	0.25197	N	-0.519519885011917	0.21449	1.138398	-0.440302686928663	0.23824	1.30131	0.999995639887782	0.74766	0.421363	0.06395	0	0.563428	0.19063	0	0.536957	0.11973	0	0.613276	0.41899	0	.	.	4.98	2.68	0.30839	2.157000	0.41946	1.573000	0.27428	-0.108000	0.15293	0.991000	0.37257	0.511000	0.25257	0.167000	0.20881	0.0:0.1843:0.0:0.8157	6.926	0.23596	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2267.98	103	chr1	162374586	.	T	C	2267.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.180e+00;DP=2173;ExcessHet=0.0000;FS=1.292;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.82;ReadPosRankSum=0.842;SOR=0.818	GT:AD:DP:GQ:PL	0/1:70,83:153:99:2282,0,1819	20	0	1	0
chr1	167117481	167117481	G	A	exonic	STYXL2	.	nonsynonymous SNV	STYXL2:NM_001080426:exon4:c.G359A:p.R120Q,	.	.	433	1069	18	2	0	22	0.0101852	.	.	2806135	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.994	D	0.000	D	1.000	D	1.04	L	3.71	T	-1.020	T	0.022	T	0.793	4.411	23.4	4.83	2.496	9.263	18.098	0.292	0.0130630288598	0.0025	0.00259585	0.0048	0.0002	0.0019	0	0.0066	0.0066	0.0016	0.0049	0.0036416	563	154602	rs149732757	0.0034	0.0034	0.0032	0.0035	0.0069	0.0033	0.0033	0.0052	0.0047	0.0004	0.0020	0.0004	7.567e-05	0.0043	0.0069	0.0035	0.0030	0.0052	0.0029	0.0030	0.0031	0.0028	0.0046	0.0027	0.0026	0.0038	0.0036	0.0007	0	0.0039	0	0.0004	0.0033	0.0306	0.0042	0.0033	0.0046	0.015	0.52492	D	0.022	0.57587	D	1.0	0.90584	D	0.994	0.82059	D	0.000008	0.62929	D	0.062131	0.999859	0.49910	D	2.135	0.59519	M	3.71	0.04046	T	-1.48	0.36189	N	0.847	0.84298	-1.0196	0.23845	T	0.022	0.09559	T	10	0.015995622	0.00336	T	0.013063	0.32163	T	0.292	0.61157	.	.	0.468504517574	0.46476	0.7997036638635909	0.79924	0.325979279674	0.34754	0.440803349018	0.30686	T	0.018311	0.14784	T	-0.269497	0.11813	T	-0.157139	0.58607	T	0.055024042725563	0.06361	T	0.953105	0.82105	D	0.24432611	0.47380	0.21196899	0.45648	0.24432611	0.47380	0.21196899	0.45647	-6.324	0.48912	T	.	.	0.165	0.36436	B	.;.;.	.;.;.	4.629184	0.73586	26.0	0.9995370809607993	0.99963	0.98728	0.86094	D	AEFBI	0.928661	0.91322	D	0.625296346194803	0.74778	6.190958	0.596438220954964	0.74683	6.179075	0.999999997600906	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.83	4.83	0.61880	9.602000	0.97623	9.853000	0.82002	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.131000	0.19607	0.0:0.0:1.0:0.0	18.098	0.89427	898	0.25240	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2465.98	36	chr1	167117481	.	G	A	2465.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.275;DP=890;ExcessHet=0.0000;FS=2.562;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=1.73;SOR=0.908	GT:AD:DP:GQ:PL	0/1:85,99:184:99:2480,0,2025	20	0	1	0
chr1	167993261	167993261	G	T	exonic	DCAF6	.	nonsynonymous SNV	DCAF6:NM_001198957:exon6:c.G631T:p.A211S	.	.	438	1080	4	0	0	4	0.00184843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.998	D	0.957	D	0.000	D	0.826	N	0.55	N	-1.46	T	-0.487	T	0.371	T	0.328	5.067	31	5.1	2.547	9.087	18.951	0.339	0.037794211972	0.0023	0.000998403	0.0024	0.0008	0.0007	0	0.0026	0.0034	0.0022	0.0014	0.0023156	358	154602	rs143999777	0.0031	0.0031	0.0031	0.0031	0.0036	0.0030	0.0030	0.0035	0.0034	0.0004	0.0005	7.653e-05	0	0.0038	0.0002	0.0036	0.0028	0.0021	0.0024	0.0024	0.0024	0.0025	0.0040	0.0022	0.0022	0.0036	0.0035	0.0005	0	0.0016	0	0	0.0044	0	0.0040	0.0014	0.0008	0.241	0.22224	T	0.475	0.14075	T	0.989	0.73220	D	0.856	0.69900	P	0.000075	0.52346	D	0.137286	0.999754	0.49394	D	1.355	0.33814	L	-1.46	0.80983	T	-1.23	0.31170	N	0.435	0.48319	-0.4867	0.69126	T	0.371	0.73008	T	9	0.010794342	0.00239	T	0.037794	0.57836	D	0.339	0.66106	.	.	0.482581879477	0.47888	0.3335849668557365	0.33271	1.07016356689	0.76788	0.624560594559	0.56373	T	0.028113	0.20438	T	-0.27694	0.10994	T	-0.172371	0.57226	T	0.0369783799619713	0.03153	T	0.947505	0.82456	D	0.12515353	0.29346	0.13032109	0.31316	0.1358009	0.31504	0.14784439	0.34971	-7.028	0.58325	T	0.07524068534035101	0.03331	0.125	0.41031	B	.;.;.;.	.;.;.;.	4.751570	0.76731	26.6	0.99687099338913576	0.79641	0.98721	0.86006	D	AEFGBI	0.950793	0.96477	D	0.406954273681883	0.61803	4.386556	0.492254867768104	0.67475	5.089094	0.999999999926248	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.1	5.1	0.68917	9.179000	0.93989	11.749000	0.95364	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.951	0.92615	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	710.98	41	chr1	167993261	.	G	T	710.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.281e+00;DP=762;ExcessHet=0.0000;FS=2.041;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=-1.394e+00;SOR=0.467	GT:AD:DP:GQ:PL	0/1:35,32:67:99:725,0,890	20	0	1	0
chr1	171545636	171545636	C	A	exonic	PRRC2C	.	nonsynonymous SNV	PRRC2C:NM_015172:exon17:c.C4915A:p.P1639T,	.	.	0	225	1	0	0	1	0.00221729	.	.	2683166	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.001	D	1.000	D	1.995	M	4.58	T	-1.058	T	0.019	T	0.375	2.558	14.51	5.37	2.533	5.764	19.173	0.168	0.041785708303	.	.	0.0001	0.0001	0	0.0001	0	0.0002	0	0	8.41e-05	13	154602	rs773951826	3.285e-05	3.283e-05	2.86e-05	3.715e-05	3.059e-05	2.545e-05	2.25e-05	2.202e-05	1.943e-05	2.989e-05	0	0.0003	0	0	0	3.059e-05	3.314e-05	2.322e-05	3.289e-05	3.941e-05	1.286e-05	5.386e-05	0.0002	1.262e-05	7.99e-06	8.01e-06	3e-06	4.833e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.083	0.40068	T	0.009	0.66756	D	1.0	0.90584	D	0.999	0.92359	D	0.000544	0.43413	D	0.000000	1	0.81001	D	1.36	0.34107	L	4.58	0.01901	T	-2.94	0.62008	D	0.13	0.19593	-1.0582	0.12209	T	0.019	0.08126	T	10	0.13883758	0.26401	T	0.041786	0.60115	D	0.240	0.54500	0.369	0.37850	0.082315109003	0.07666	0.05633529141836229	0.05574	0.209392805901	0.23407	0.813337683678	0.84005	D	0.053333	0.29415	T	-0.251542	0.13910	T	-0.407416	0.32525	T	0.328674137592316	0.26171	T	0.839916	0.51747	T	.	.	.	.	.	.	.	.	-11.065	0.80013	D	.	.	.	.	.	.;.;.	.;.;.	2.970044	0.39582	21.0	0.95938132557267841	0.28236	0.98924	0.88695	D	AEFBI	0.612204	0.60036	D	0.741745090320191	0.82364	7.744841	0.7223020596247	0.84074	8.191347	0.999999992712156	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.37	5.37	0.76949	5.659000	0.67680	3.406000	0.38159	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.173	0.93571	368	0.84463	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	325.98	35	chr1	171545636	.	C	A	325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.796;DP=769;ExcessHet=0.0000;FS=1.435;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.76;ReadPosRankSum=1.83;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,14:42:99:0|1:171545592_C_G:340,0,720:171545592	20	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	21772.6	79	chr1	175160810	.	C	T,*	21772.6	.	AC=20,9;AF=0.476,0.214;AN=42;BaseQRankSum=0.238;DP=1529;ExcessHet=1.3217;FS=0.603;InbreedingCoeff=-0.0027;MLEAC=20,9;MLEAF=0.476,0.214;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=1.92;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:41,0,47:88:99:0|1:175160809_TC_T:1763,1886,3536,0,1650,1508:175160809	2	5	6	0
chr1	176791432	176791432	C	G	exonic	PAPPA2	.	nonsynonymous SNV	PAPPA2:NM_020318:exon19:c.C4970G:p.P1657R,	.	.	430	990	99	3	0	105	0.0503597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.715	P	0.288	B	0.000	D	1.000	D	1.59	L	4.49	T	-0.862	T	0.007	T	0.209	2.275	13.57	4.48	1.236	2.697	11.376	0.093	.	0.0066	0.0101837	0.0138	0.0020	0.0273	0.0001	0.0074	0.0099	0.0122	0.0369	0.0123866	1915	154602	rs34602579	0.0082	0.0082	0.0069	0.0095	0.0386	0.0081	0.0080	0.0375	0.0371	0.0016	0.0228	0.0496	5.041e-05	0.0081	0.0328	0.0044	0.0115	0.0386	0.0079	0.0079	0.0072	0.0085	0.0349	0.0075	0.0073	0.0306	0.0289	0.0024	0.0099	0.0101	0.0498	0.0002	0.0099	0.0171	0.0068	0.0085	0.0349	0.022	0.48642	D	0.112	0.37037	T	0.715	0.42183	P	0.288	0.40614	B	0.000083	0.51296	D	0.130773	0.950107	0.26515	N	2.095	0.58118	M	4.49	0.02049	T	-2.06	0.47175	N	0.413	0.45331	-0.8622	0.51104	T	0.007	0.02399	T	10	0.003267467	0.00056	T	.	.	.	0.093	0.26882	.	.	.	.	0.7269670015442563	0.72640	0.198595925975	0.22241	0.285176694393	0.08225	T	0.24153	0.61007	T	-0.579169	0.00195	T	-0.57685	0.14826	T	0.0218216985432377	0.00889	T	0.50225	0.15758	T	0.059995424	0.12260	0.08987151	0.21042	0.059995424	0.12260	0.08987151	0.21042	-6.562	0.50762	T	.	.	0.077	0.06295	B	.	.	2.220156	0.28336	17.76	0.99272752400622866	0.57627	0.34067	0.24979	N	AEFI	0.189116	0.31638	N	-0.040508235531873	0.40027	2.370191	-0.0519351709435044	0.37406	2.189769	0.012405970498762	0.12323	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.4	4.48	0.53973	2.696000	0.46719	2.603000	0.33533	0.597000	0.34315	0.022000	0.19841	0.025000	0.21018	0.769000	0.36481	0.3268:0.6732:0.0:0.0	11.376	0.48969	701	0.57775	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2631.11	40	chr1	176791432	.	C	G	2631.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.000e-02;DP=933;ExcessHet=0.1072;FS=0.985;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=-2.550e-01;SOR=0.626	GT:AD:DP:GQ:PL	0/1:78,80:158:99:1657,0,1829	19	0	2	0
chr1	178522411	178522411	G	T	exonic	TEX35	.	nonsynonymous SNV	TEX35:NM_032126:exon9:c.G673T:p.A225S,	.	.	.	.	.	.	.	.	.	.	.	2352017	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.4	T	0.012	B	0.017	B	.	.	1.000	N	0.69	N	2.04	T	-0.978	T	0.027	T	0.218	0.983	9.015	0.716	0.192	0.030	2.790	0.014	0.00233225629227	0.0002	.	0.0001	0	0.0004	0	0	0.0001	0	0	5.82e-05	9	154602	rs148791663	1.378e-05	1.847e-05	1.505e-05	1.249e-05	0.0003	9e-06	7.32e-06	0.0002	0.0001	0	0.0003	0	0	0	0.0002	4.519e-06	1.667e-05	1.194e-05	4.594e-05	4.593e-05	6.422e-05	2.685e-05	0.0002	2.107e-05	1.525e-05	5.277e-05	2.833e-05	0	0	0.0002	0	0	0	0	4.409e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	0.012	0.16265	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.04	0.20808	T	-0.39	0.13611	N	0.08	0.05542	-0.9776	0.35548	T	0.027	0.11485	T	9	0.040319324	0.02591	T	0.002332	0.04507	T	0.014	0.01968	.	.	0.0138822411134	0.00435	0.013954037740291124	0.01352	0.0800241335068	0.09004	0.234284922481	0.02300	T	0.001901	0.01317	T	-0.480521	0.00734	T	-0.609939	0.11990	T	0.0337817037064786	0.02601	T	0.324967	0.06659	T	0.07162713	0.15872	0.07673052	0.17024	0.07162713	0.15872	0.07673052	0.17024	-3.164	0.12046	T	.	.	0.097	0.16010	B	.	.	0.131579	0.05272	1.770	0.87294421919152354	0.17125	0.03115	0.08055	N	AEFDBI	0.035549	0.04594	N	-1.26013826106678	0.04167	0.1875696	-1.30880755173663	0.04315	0.2032808	0.127738160111202	0.17026	0.487112	0.14033	0	0.55458	0.17659	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.73	0.716	0.17347	0.011000	0.13162	-0.016000	0.12991	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1645:0.0:0.559:0.2764	2.790	0.05053	804	0.43891	.	.	.	.	.	.	Uncertain significance	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	976.98	41	chr1	178522411	.	G	T	976.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.634e+00;DP=776;ExcessHet=0.0000;FS=4.207;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.91;ReadPosRankSum=1.18;SOR=1.179	GT:AD:DP:GQ:PL	0/1:44,38:82:99:991,0,1255	20	0	1	0
chr1	180014239	180014239	G	C	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon10:c.G1786C:p.V596L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.991	D	0.000	D	1.000	D	2.24	M	-2.57	D	0.672	D	0.818	D	0.871	5.044	29.9	5.6	2.788	9.092	19.577	0.565	0.138735317183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.131	0.34596	T	0.997	0.70673	D	0.933	0.66815	D	0.000494	0.43931	D	0.000000	1	0.81001	D	2.515	0.73286	M	-2.57	0.89692	D	-1.93	0.44852	N	0.804	0.79986	0.672	0.92822	D	0.818	0.93855	D	9	0.7784072	0.77650	D	0.138735	0.82122	D	0.565	0.82232	0.251	0.18912	0.933423527662	0.93273	0.2305698346646848	0.22971	0.406491481352	0.41524	0.817128300667	0.84587	D	0.124088	0.44888	T	0.411747	0.90578	D	0.353669	0.90461	D	0.993486225605011	0.84301	D	0.907609	0.67324	D	0.52510554	0.68551	0.5940318	0.76435	0.52510554	0.68552	0.5940318	0.76436	-8.814	0.66492	D	.	.	0.957	0.87648	P	.	.	4.238175	0.64232	24.7	0.99861407413495462	0.94002	0.99292	0.94053	D	AEFGBI	0.815095	0.73715	D	0.861085333927434	0.89729	10.09338	0.856523218067628	0.93392	12.01194	0.999999999986871	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.6	5.6	0.84997	9.516000	0.97042	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.577	0.95445	185	0.92771	.	.	.	.	.	.	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	0.1786	351.91	104	chr1	180014239	.	G	C	351.91	.	AC=5;AF=0.179;AN=28;BaseQRankSum=-3.051e+00;DP=1895;ExcessHet=1.1607;FS=246.725;InbreedingCoeff=-0.2543;MLEAC=7;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=0.66;ReadPosRankSum=0.125;SOR=11.993	GT:AD:DP:GQ:PL	0/1:81,31:119:66:66,0,1600	9	0	5	7
chr1	183235717	183235717	G	A	exonic	LAMC2	.	nonsynonymous SNV	LAMC2:NM_005562:exon16:c.G2443A:p.G815R	Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	.	1	1517	4	0	0	4	0.00131666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.026	B	0.025	B	0.001	N	0.999	D	1.01	L	2.48	T	-1.078	T	0.034	T	0.257	1.455	10.81	4.93	1.484	3.874	12.206	0.043	0.0111965103191	.	.	0.0002	9.653e-05	8.712e-05	0	0	0.0002	0.0011	0.0004	0.0001552	24	154602	rs149894293	7.798e-05	7.798e-05	7.487e-05	8.113e-05	0.0012	6.6e-05	6.142e-05	0.0006	0.0004	2.987e-05	2.236e-05	0	7.558e-05	0	0.0012	7.104e-05	0.0002	9.276e-05	5.912e-05	5.91e-05	6.421e-05	5.379e-05	0.0001	3.077e-05	2.21e-05	4.764e-05	3.338e-05	4.825e-05	0	0	0	0	0	0	0.0001	0	0	0.076	0.34269	T	0.781	0.04316	T	0.026	0.19406	B	0.025	0.20508	B	0.001248	0.39669	N	0.219539	0.997654	0.46434	D	1.685	0.43254	L	2.48	0.16492	T	-0.42	0.14193	N	0.461	0.49783	-1.0780	0.07741	T	0.034	0.14464	T	10	0.12865421	0.24473	T	0.011197	0.28580	T	0.043	0.11576	0.399	0.42753	0.472504041403	0.46879	0.4097116171868349	0.40887	0.139219442409	0.15689	0.422699153423	0.28207	T	0.075658	0.35230	T	-0.386145	0.02848	T	-0.513012	0.21006	T	0.0694279819726944	0.08571	T	0.723528	0.33695	T	0.10391202	0.24562	0.09692528	0.23050	0.10391202	0.24562	0.09692528	0.23049	-4.229	0.27169	T	.	.	0.155	0.34427	B	.;.	.;.	2.890356	0.38275	20.7	0.95237959267970973	0.26478	0.80220	0.39916	D	AEFDGBHCI	0.541129	0.55741	D	-0.288443839471195	0.29593	1.642511	-0.14937746366528	0.33432	1.912341	0.999999999470085	0.74766	0.75658	0.98901	0	0.547309	0.14657	0	0.858454	0.99976	0	0.651492	0.60203	0	.	.	5.84	4.93	0.64394	3.986000	0.56647	9.884000	0.82221	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.340000	0.25432	0.0797:0.0:0.9203:0.0	12.206	0.53665	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	1	0	0	0	0	0	0	0.02381	1065.98	38	chr1	183235717	.	G	A	1065.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.937;DP=777;ExcessHet=0.0000;FS=2.007;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=0.390;SOR=0.991	GT:AD:DP:GQ:PL	0/1:36,40:76:99:1080,0,950	20	0	1	0
chr1	183969334	183969334	G	T	exonic	COLGALT2	.	nonsynonymous SNV	COLGALT2:NM_001303420:exon5:c.C767A:p.P256Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.996	D	0.000	D	1.000	D	2.585	M	1.97	T	-0.802	T	0.175	T	0.824	4.933	28.6	5.45	2.557	9.438	19.270	0.531	0.0218109171158	.	.	8.243e-06	0	0	0	0	0	0	6.064e-05	6.5e-06	1	154602	rs779082349	1.232e-05	1.231e-05	1.361e-05	1.1e-05	0.0001	7.7e-06	6.35e-06	7.126e-05	5.484e-05	2.988e-05	2.237e-05	0	0	0	0	3.598e-06	1.656e-05	0.0001	1.316e-05	1.314e-05	1.286e-05	1.347e-05	0.0002	2.19e-06	8.2e-07	.	.	2.417e-05	0	0	0	0	0	0	0	0	0.0002	0.015	0.52492	D	0.12	0.35970	T	0.997	0.70673	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.56	0.74772	M	1.97	0.22067	T	-4.63	0.79229	D	0.791	0.78737	-0.8024	0.55003	T	0.175	0.51832	T	10	0.758268	0.76148	D	0.021811	0.44628	T	0.531	0.80247	0.413	0.45052	0.772153048895	0.77006	0.7565296805866395	0.75600	0.438902184264	0.43921	0.609135389328	0.54192	T	0.203289	0.56171	T	0.0689312	0.60719	T	-0.0381315	0.67828	D	0.964373528957367	0.66939	D	0.997794	0.99079	D	0.44936764	0.64001	0.40572086	0.64965	0.44936764	0.64001	0.40572086	0.64965	-10.072	0.74342	D	.	.	0.366	0.62776	A	.;.	.;.	5.029651	0.83645	28.1	0.99323320706603724	0.59469	0.98926	0.88723	D	AEFBI	0.946979	0.95702	D	0.904598564509139	0.91984	11.16976	0.868909335329239	0.94070	12.483	0.999999999999886	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	5.45	5.45	0.79688	9.569000	0.97327	9.818000	0.81786	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	19.270	0.93993	866	0.32446	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1545.98	39	chr1	183969334	.	G	T	1545.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.750e-01;DP=874;ExcessHet=0.0000;FS=0.656;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-2.390e-01;SOR=0.597	GT:AD:DP:GQ:PL	0/1:71,62:133:99:1560,0,1862	20	0	1	0
chr1	186007167	186007167	C	G	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon30:c.C4515G:p.D1505E,	.	.	433	1063	26	0	0	26	0.0120818	.	.	277902	not_provided|Age_related_macular_degeneration_1	MedGen:C3661900|MONDO:MONDO:0011285,MedGen:C1864205,OMIM:603075	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.66	T	0.003	B	0.026	B	0.000	N	0.993	D	0.075	N	-0.16	T	-1.098	T	0.078	T	0.019	0.593	7.201	0.587	-0.059	0.691	1.474	0.088	.	0.0014	0.00459265	0.0034	0	0.0008	0.0001	0.0006	0.0015	0.0022	0.0176	0.0030207	467	154602	rs146532107	0.0019	0.0019	0.0015	0.0024	0.0160	0.0019	0.0019	0.0153	0.0151	5.98e-05	0.0007	0.0005	0.0002	0.0009	0.0056	0.0011	0.0020	0.0160	0.0014	0.0014	0.0011	0.0016	0.0141	0.0012	0.0011	0.0114	0.0105	0.0002	0	0.0010	0	0.0004	0.0006	0.0034	0.0015	0.0010	0.0141	0.723	0.03892	T	0.95	0.02617	T	0.003	0.11197	B	0.026	0.20792	B	0.000214	0.47681	N	0.244896	0.992659	0.41705	D	-0.18	0.04256	N	-0.16	0.65378	T	-0.01	0.07155	N	0.217	0.24260	-1.0981	0.04328	T	0.078	0.31163	T	10	0.007970095	0.00181	T	.	.	.	0.088	0.25558	0.339	0.32979	0.408714661073	0.40485	0.3839796956562825	0.38312	0.444899541595	0.44388	0.348350644112	0.17679	T	.	.	.	-0.608373	0.00130	T	-0.633036	0.10185	T	0.0214624194731387	0.00850	T	0.719228	0.33234	T	0.02913042	0.02360	0.031024221	0.01634	0.02913042	0.02359	0.031024221	0.01634	-3.833	0.21298	T	.	.	0.114	0.22537	B	.	.	1.624586	0.20745	14.89	0.74242902433876157	0.10623	0.88403	0.48315	D	AEFI	0.452470	0.50601	N	-0.607529084871421	0.18717	0.9739839	-0.425686806094848	0.24246	1.326678	0.14332182464736	0.17313	0.615465	0.37627	0	0.573888	0.26702	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.76	0.587	0.16623	0.713000	0.25464	0.429000	0.18304	0.599000	0.40250	0.997000	0.40164	0.983000	0.30585	0.999000	0.91618	0.2203:0.3811:0.2143:0.1843	1.474	0.02274	407	0.82314	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	1290.98	35	chr1	186007167	.	C	G	1290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.44;DP=803;ExcessHet=0.0000;FS=4.524;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=1.33;SOR=1.115	GT:AD:DP:GQ:PL	0/1:70,51:121:99:1305,0,1713	20	0	1	0
chr1	186344065	186344065	C	T	exonic	TPR	.	nonsynonymous SNV	TPR:NM_003292:exon26:c.G3443A:p.R1148H,	.	.	434	1051	35	2	0	39	0.0182158	.	.	718442	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.959	D	0.000	D	1.000	D	2.19	M	0.9	T	-0.561	T	0.257	T	0.605	4.901	28.2	4.83	2.399	7.421	18.271	0.231	.	0.0011	0.00259585	0.0043	0.0004	0.0017	0	0	0.0025	0.0056	0.0195	0.0038292	592	154602	rs201004855	0.0027	0.0027	0.0021	0.0032	0.0180	0.0026	0.0026	0.0172	0.0169	0.0004	0.0014	0.0014	2.521e-05	7.491e-05	0.0137	0.0018	0.0029	0.0180	0.0015	0.0015	0.0014	0.0015	0.0124	0.0013	0.0013	0.0099	0.0090	0.0004	0	0.0010	0.0014	0	0	0	0.0018	0.0033	0.0124	0.001	0.78490	D	0.042	0.50226	D	1.0	0.90584	D	0.959	0.70163	D	0.000000	0.84330	D	0.050771	1	0.81001	D	2.63	0.76995	M	0.9	0.45248	T	-3.53	0.68532	D	0.787	0.78356	-0.5615	0.66346	T	0.257	0.62766	T	10	0.010094792	0.00226	T	.	.	.	0.231	0.53208	.	.	0.466547245578	0.46280	0.48931154274613103	0.48851	0.969088215217	0.73296	0.480538964272	0.36131	T	0.145386	0.48249	T	-0.323258	0.06635	T	-0.222834	0.52463	T	0.0385103701510048	0.03423	T	0.924308	0.72323	D	0.6027981	0.72841	0.51171225	0.71784	0.6027981	0.72842	0.51171225	0.71784	-7.174	0.55295	T	.	.	0.092	0.13597	B	.	.	5.411269	0.90574	31	0.9994843165883498	0.99923	0.98962	0.89228	D	AEFGBI	0.885779	0.81660	D	0.734137817197773	0.81869	7.624562	0.694813629116079	0.81982	7.656244	0.999999737747594	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	7.253000	0.77742	6.012000	0.52660	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:1.0:0.0:0.0	18.271	0.90008	278	0.89047	Nucleoprotein TPR/MLP1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1896.98	34	chr1	186344065	.	C	T	1896.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.550e-01;DP=810;ExcessHet=0.0000;FS=5.673;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.90;ReadPosRankSum=0.135;SOR=0.321	GT:AD:DP:GQ:PL	0/1:34,72:106:99:1911,0,715	20	0	1	0
chr1	197093194	197093194	C	T	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_001206846:exon20:c.G4397A:p.R1466Q	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1200673	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.15	T	0.772	P	0.153	B	0.504	N	1.000	N	-0.645	N	-0.57	T	-0.230	T	0.467	T	0.266	1.847	12.14	-6.96	-1.649	-0.038	8.541	0.208	0.0619816249752	.	.	4.143e-05	0	0	0.0002	0.0002	3.005e-05	0	0	5.17e-05	8	154602	rs368000478	6.435e-05	6.43e-05	6.267e-05	6.606e-05	0.0001	5.365e-05	4.98e-05	5.252e-05	4.826e-05	0	4.476e-05	0	0.0001	1.875e-05	0	6.48e-05	0.0001	5.798e-05	3.956e-05	3.943e-05	6.441e-05	1.351e-05	0.0002	1.72e-05	1.133e-05	1.976e-05	1.127e-05	0	0	6.588e-05	0	0.0002	0	0	5.898e-05	0	0	0.292	0.14894	T	0.69	0.12920	T	0.772	0.43974	P	0.153	0.34292	B	0.504231	0.11915	N	0.746374	0.999997	0.08975	N	-0.49	0.02651	N	-0.57	0.95422	T	0.07	0.06138	N	0.117	0.16308	-0.2298	0.76892	T	0.467	0.79416	T	10	0.06130916	0.07666	T	0.061982	0.68507	D	0.208	0.49714	.	.	0.428401797576	0.42457	0.01546440348712338	0.01502	.	.	0.204205513	0.00589	T	0.015279	0.12850	T	-0.117849	0.33475	T	-0.181356	0.56397	T	0.0238315266102432	0.01124	T	0.840716	0.51609	T	0.02084657	0.00658	0.028415883	0.01075	0.02084657	0.00658	0.028415883	0.01075	-3.531	0.29147	T	.	.	0.077	0.06250	B	.;.;.	.;.;.	0.782438	0.11529	8.124	0.91522039557211188	0.20798	0.04294	0.09839	N	AEFBI	0.031079	0.03251	N	-1.25139214046609	0.04281	0.1929216	-1.25213405384217	0.05099	0.2421848	0.945090471914692	0.27645	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.18	-6.96	0.01465	0.257000	0.18137	-3.314000	0.02883	-0.242000	0.07441	0.991000	0.37257	0.000000	0.08366	0.969000	0.54022	0.0866:0.1021:0.0:0.8113	8.541	0.32556	182	0.92924	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site;.;IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	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	2487.98	34	chr1	197093194	.	C	T	2487.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=897;ExcessHet=0.0000;FS=3.115;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=-4.040e-01;SOR=0.773	GT:AD:DP:GQ:PL	0/1:104,103:207:99:2502,0,2320	20	0	1	0
chr1	201209118	201209118	G	T	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon12:c.G4225T:p.G1409C,	.	.	421	1095	6	0	0	6	0.00273224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	0	N	-4.74	D	-0.015	T	0.657	D	0.088	1.492	10.94	-4.87	-1.444	-0.297	1.710	0.178	.	.	0.00319489	0.0074	0	0	0	0	0	0.0074	0.0187	0.0008409	130	154602	rs578206003	0.0009	0.0009	0.0005	0.0013	0.0150	0.0009	0.0008	0.0143	0.0140	0	0	0	2.799e-05	0	0.0005	3.711e-06	0.0010	0.0150	0.0005	0.0005	0.0003	0.0007	0.0159	0.0004	0.0004	0.0131	0.0120	0	0	0	0	0	0	0.0034	1.475e-05	0.0005	0.0159	0.006	0.61437	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.20930	N	.	.	.	-4.74	0.98081	D	-0.45	0.14782	N	0.166	0.17553	-0.0148	0.81947	T	0.657	0.88057	D	6	0.003960043	0.00076	T	.	.	.	0.178	0.44724	0.159	0.06287	0.227934060464	0.22382	0.4236881981105425	0.42285	.	.	0.323072105646	0.13887	T	.	.	.	-0.361009	0.04073	T	-0.279664	0.46838	T	0.0224062828441333	0.00954	T	0.261074	0.04204	T	.	.	.	.	.	.	.	.	-8.552	0.64773	D	.	.	0.158	0.34970	B	.	.	1.690934	0.21541	15.25	0.96295619820670519	0.29331	0.02238	0.06495	N	AEFBI	0.043410	0.06858	N	-1.32565546546134	0.03384	0.1510825	-1.51103641400318	0.02259	0.1036114	0.00119913445643312	0.08324	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.44	-4.87	0.02893	0.026000	0.13490	-1.300000	0.05777	-0.598000	0.04625	0.000000	0.06391	0.000000	0.08366	0.067000	0.16453	0.1806:0.3051:0.3605:0.1537	1.710	0.02716	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	2020.98	107	chr1	201209118	.	G	T	2020.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.027;DP=1998;ExcessHet=0.0000;FS=2.033;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=0.781;SOR=0.545	GT:AD:DP:GQ:PL	0/1:79,74:153:99:2035,0,2088	20	0	1	0
chr1	201209798	201209798	-	GCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4905_4906insGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA:p.G1647_I1648insMGSGSKASFRDGLGGSGEMGSVNEAGYRKDLGAPKG,	.	.	682	662	104	2	72	180	0.075419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0	0	0	0	0.0021	0	0	.	.	.	.	0.0018	0.0016	0.0018	0.0018	0.0119	0.0017	0.0016	0.0084	0.0073	0.0119	0.0021	0.0016	0.0109	0.0043	0	0.0013	0.0023	0.0021	0.0006	0.0094	0.0010	0.0002	0.0037	0.0003	0.0002	0.0001	7.467e-05	0.0004	0	0.0007	0	0.0037	0.0015	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	21447.27	257	chr1	201209798	.	G	GGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA	21447.27	.	AC=8;AF=0.667;AN=12;BaseQRankSum=-9.710e-01;DP=6247;ExcessHet=0.0045;FS=0.524;InbreedingCoeff=0.2535;MLEAC=17;MLEAF=1.00;MQ=53.84;MQRankSum=-7.397e+00;QD=23.83;ReadPosRankSum=-9.608e+00;SOR=0.772	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,114:115:99:1|1:201209798_G_GGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA:3116,233,0:201209798	1	3	2	15
chr1	201209836	201209836	-	GGGTTC	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4943_4944insGGGTTC:p.I1648delinsMGS,	.	.	422	1070	28	0	2	30	0.0129151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0003	0	0	3.84e-05	1	26028	rs764283275	9.788e-06	0.0002	1.337e-05	6.108e-06	5.809e-05	5.46e-06	4.21e-06	9.62e-06	3.6e-06	0	0	0	5.809e-05	0	0	9.653e-06	1.805e-05	0	6.799e-06	0.0002	1.327e-05	0	.	0	0	.	.	0	0	0	0	0	9.775e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	8560.35	257	chr1	201209836	.	T	TGGGTTC	8560.35	.	AC=4;AF=0.100;AN=40;BaseQRankSum=2.74;DP=6643;ExcessHet=0.7148;FS=1.833;InbreedingCoeff=0.0162;MLEAC=4;MLEAF=0.100;MQ=52.22;MQRankSum=-7.702e+00;QD=5.90;ReadPosRankSum=-4.416e+00;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:249,120:369:99:1|0:201209798_G_GGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA:1984,0,6342:201209798	16	0	4	1
chr1	201209837	201209837	-	GGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4944_4945insGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG:p.S1650_G1651insKASFRDGLGGSGEMGSVNEAGYRKDLGAPKGMGS,	.	.	516	555	409	0	42	451	0.269256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0008	0	0	.	.	.	.	1.544e-05	0.0005	2.273e-05	7.867e-06	0.0002	7.64e-06	4.8e-06	6.16e-06	3.39e-06	0	0	0	0.0002	0	0	1.436e-05	5.053e-05	0	5.356e-05	0.0009	5.097e-05	5.641e-05	5.625e-05	8.87e-06	3.32e-06	.	.	0	0	0	0	0	0.0004	0	5.625e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14067.83	177	chr1	201209837	.	A	G,AGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG	14067.83	.	AC=3,4;AF=0.214,0.286;AN=14;BaseQRankSum=1.99;DP=7537;ExcessHet=3.1160;FS=2.726;InbreedingCoeff=-0.4173;MLEAC=5,7;MLEAF=0.357,0.500;MQ=52.14;MQRankSum=-6.885e+00;QD=7.29;ReadPosRankSum=-1.433e+01;SOR=0.720	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:249,0,120:369:99:1|0:201209798_G_GGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA:1983,2717,9416,0,6699,6344:201209798	0	0	3	14
chr1	201217373	201217373	G	A	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon17:c.G9682A:p.G3228S	.	.	423	1086	13	0	0	13	0.00594966	.	.	2815917	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.26	M	0.41	T	-0.150	T	0.362	T	0.347	4.698	26.0	3.77	0.953	5.910	11.021	0.371	0.0450691315221	0.0030	0.00179712	0.0031	0.0004	0.0010	0	0.0023	0.0042	0.0044	0.0039	0.0030401	470	154602	rs143014998	0.0040	0.0040	0.0041	0.0040	0.0045	0.0039	0.0039	0.0044	0.0044	0.0004	0.0015	0.0023	0	0.0027	0.0016	0.0045	0.0037	0.0039	0.0026	0.0026	0.0026	0.0026	0.0040	0.0024	0.0023	0.0036	0.0034	0.0006	0	0.0016	0.0023	0	0.0044	0	0.0040	0.0009	0.0033	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	0.998478	0.46032	D	3.585	0.93597	H	0.41	0.57100	T	-5.73	0.87611	D	0.441	0.47949	-0.1498	0.78921	T	0.362	0.72338	T	10	0.010296851	0.00230	T	0.045069	0.61798	D	0.371	0.69016	.	.	0.51058355623	0.50700	0.3258561252445839	0.32498	.	.	0.482014596462	0.36334	T	0.043816	0.26620	T	-0.321231	0.06797	T	-0.233112	0.51470	T	0.0411853397761261	0.03905	T	0.831417	0.49863	T	0.19212675	0.40869	0.31738853	0.57713	0.19212675	0.40869	0.31738853	0.57713	-11.968	0.84695	D	.	.	0.201	0.42506	B	.;.	.;.	3.208461	0.43659	21.8	0.99857758233966909	0.93639	0.96599	0.69949	D	AEFDBI	0.753477	0.69365	D	0.111690557198599	0.47007	2.932596	-0.0115667840431473	0.39191	2.320025	0.958242151208714	0.28351	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.68	3.77	0.42499	6.016000	0.70451	3.139000	0.36475	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.277000	0.23942	0.0871:0.0:0.9129:0.0	11.021	0.46932	917	0.20147	.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1417.98	34	chr1	201217373	.	G	A	1417.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.785;DP=799;ExcessHet=0.0000;FS=2.429;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=0.023;SOR=0.494	GT:AD:DP:GQ:PL	0/1:56,58:114:99:1432,0,1255	20	0	1	0
chr1	201488943	201488943	T	A	exonic	CSRP1	.	nonsynonymous SNV	CSRP1:NM_001193570:exon4:c.A323T:p.K108I	.	.	434	1061	27	0	0	27	0.012564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.973	D	0.895	P	0.000	D	1.000	D	2.275	M	0.75	T	-0.825	T	0.105	T	0.625	4.313	22.6	5.53	2.086	5.959	10.379	0.137	.	0.0012	0.0105831	0.0076	0.0007	0.0009	0.0296	0.0029	0.0019	0.0044	0.0297	0.0068498	1059	154602	rs3738283	0.0052	0.0052	0.0043	0.0061	0.0465	0.0051	0.0050	0.0447	0.0440	0.0005	0.0009	0.0016	0.0465	0.0017	0.0031	0.0023	0.0046	0.0312	0.0032	0.0033	0.0027	0.0038	0.0286	0.0030	0.0029	0.0247	0.0233	0.0005	0.0044	0.0007	0.0003	0.0263	0.0025	0	0.0022	0.0028	0.0286	0.052	0.43085	T	0.083	0.44702	T	0.068	0.23728	B	0.04	0.23831	B	0.000000	0.84330	D	0.044457	0.999993	0.58761	D	3.12	0.87914	M	0.75	0.50192	T	-2.26	0.59545	N	0.472	0.60579	-0.8250	0.53619	T	0.105	0.38390	T	10	0.0058401525	0.00130	T	.	.	.	0.137	0.36984	.	.	0.70693104076	0.70437	0.49026484260685355	0.48946	0.451572985527	0.44902	0.613706946373	0.54839	T	0.282317	0.65505	T	-0.315689	0.07257	T	-0.175191	0.56968	T	0.063099928941028	0.07647	T	0.975702	0.91674	D	0.29719242	0.52651	0.1889332	0.42211	0.29719242	0.52651	0.1889332	0.42210	-12.666	0.87941	D	.	.	0.721	0.73821	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.867239	0.79709	27.2	0.99486396034677693	0.67180	0.82777	0.41959	D	AEFBCI	0.892651	0.82980	D	0.298869076774726	0.56092	3.773414	0.39157591504516	0.61043	4.299257	0.999999999904671	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.53	5.53	0.82530	5.935000	0.69862	6.100000	0.53542	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0824:0.0:0.9176	10.379	0.43284	927	0.17636	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4435.68	34	chr1	201488943	.	T	A	4435.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.576e+00;DP=972;ExcessHet=0.3300;FS=7.525;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=0.228;SOR=0.432	GT:AD:DP:GQ:PL	0/1:57,61:118:99:1594,0,1479	18	0	3	0
chr1	202276481	202276481	C	T	exonic	LGR6	.	nonsynonymous SNV	LGR6:NM_001017403:exon5:c.C604T:p.P202S	.	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.996	D	0.000	D	1.000	D	1.96	M	3.17	T	-0.828	T	0.141	T	0.772	4.806	27.2	4.94	2.563	7.608	18.351	0.371	.	.	0.00359425	0.0020	0	0	0.0073	0	1.542e-05	0.0034	0.0107	0.0017141	265	154602	rs117583891	0.0007	0.0007	0.0005	0.0009	0.0083	0.0007	0.0007	0.0078	0.0076	2.987e-05	2.236e-05	0	0.0049	0	0.0003	1.978e-05	0.0017	0.0083	0.0006	0.0006	0.0004	0.0008	0.0120	0.0005	0.0005	0.0095	0.0086	0	0	0	0	0.0073	0	0	1.47e-05	0.0005	0.0120	0.049	0.50676	D	0.005	0.72224	D	1.0	0.90584	D	0.991	0.84481	D	0.000000	0.84330	D	0.000000	0.999992	0.81001	D	0.78	0.19475	N	3.17	0.28836	T	-5.91	0.94872	D	0.891	0.89020	-0.8280	0.53429	T	0.141	0.46202	T	10	0.0098432	0.00221	T	.	.	.	0.371	0.69016	.	.	0.823451469078	0.82178	0.5850216369116384	0.58432	0.935321400836	0.71996	0.542400956154	0.44785	T	0.388735	0.74934	T	-0.260751	0.12812	T	-0.141637	0.59976	T	0.0827109206926544	0.10331	T	0.986951	0.95536	D	0.49698937	0.66917	0.5578874	0.74425	0.49698937	0.66918	0.5578874	0.74426	-12.215	0.85882	D	.	.	0.157	0.65123	B	.;.;.	.;.;.	4.716105	0.75812	26.4	0.9992393014682418	0.98917	0.97692	0.76450	D	AEFDGBI	0.922086	0.89653	D	0.762335482532597	0.83705	8.088063	0.732762882244252	0.84865	8.412892	0.999999999999948	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.94	4.94	0.64645	7.887000	0.85804	5.913000	0.51050	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:1.0:0.0:0.0	18.351	0.90281	536	0.73233	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1030.98	34	chr1	202276481	.	C	T	1030.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=793;ExcessHet=0.0000;FS=7.703;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=1.25;SOR=0.247	GT:AD:DP:GQ:PL	0/1:41,38:79:99:1045,0,1101	20	0	1	0
chr1	203175672	203175672	C	A	exonic	MYBPH	.	nonsynonymous SNV	MYBPH:NM_004997:exon1:c.G84T:p.E28D,	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.189	B	0.039	B	0.061	N	0.601	D	1.04	L	0.67	T	-0.929	T	0.082	T	0.223	1.996	12.63	4.18	2.434	1.009	5.772	0.042	0.0107436009783	.	.	0.0002	0	0	0	0	1.504e-05	0.0022	0.0011	0.0001358	21	154602	rs762057578	6.704e-05	6.704e-05	4.493e-05	8.939e-05	0.0009	5.629e-05	5.172e-05	0.0008	0.0007	0	0	0	2.519e-05	0	0	8.993e-06	0.0001	0.0009	4.597e-05	4.593e-05	1.285e-05	8.058e-05	0.0015	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.025	0.47320	D	0.126	0.35205	T	0.189	0.29346	B	0.039	0.23607	B	0.060502	0.22242	N	0.318034	0.601327	0.32541	D	1.975	0.53506	M	0.67	0.52187	T	-0.72	0.20358	N	0.28	0.33140	-0.9295	0.44212	T	0.082	0.32237	T	10	0.039389163	0.02426	T	0.010744	0.27620	T	0.042	0.11227	0.326	0.30873	0.73347288092	0.73110	0.34191233893776796	0.34104	0.194962813316	0.21832	0.310604304075	0.11999	T	0.025351	0.18971	T	-0.434367	0.01396	T	-0.447155	0.28011	T	0.0868415274719513	0.10839	T	0.549745	0.18930	T	0.16393377	0.36567	0.15523793	0.36397	0.16393377	0.36567	0.15523793	0.36396	-5.146	0.38388	T	.	.	0.095	0.14706	B	.;.	.;.	2.400682	0.30838	18.56	0.99488036299029337	0.67291	0.68804	0.33941	D	AEFDBCI	0.225234	0.34935	N	-0.183655300974085	0.33816	1.922787	-0.0655292926208874	0.36825	2.14812	0.999997401580645	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.2	4.18	0.48473	0.451000	0.21492	0.354000	0.17507	0.599000	0.40250	0.527000	0.27166	0.992000	0.31684	0.163000	0.20749	0.0:0.8319:0.0:0.1681	5.772	0.17525	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1632.98	33	chr1	203175672	.	C	A	1632.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.269e+00;DP=841;ExcessHet=0.0000;FS=1.390;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-8.600e-01;SOR=0.538	GT:AD:DP:GQ:PL	0/1:64,69:133:99:1647,0,1566	20	0	1	0
chr1	203486733	203486733	A	G	exonic	PRELP	.	nonsynonymous SNV	PRELP:NM_002725:exon3:c.A1001G:p.N334S	.	.	425	1034	60	3	0	66	0.0309278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.003	B	0.320	N	1.000	N	-0.55	N	3.68	T	-0.900	T	0.004	T	0.113	-1.525	0.016	-0.025	0.025	0.208	6.184	0.016	.	0.0052	0.00758786	0.0095	0.0014	0.0024	0	0.0136	0.0086	0.0066	0.0267	0.0087062	1346	154602	rs2233732	0.0072	0.0072	0.0064	0.0079	0.0272	0.0070	0.0070	0.0262	0.0259	0.0004	0.0016	0.0025	5.044e-05	0.0145	0.0115	0.0060	0.0067	0.0272	0.0056	0.0056	0.0048	0.0065	0.0232	0.0053	0.0052	0.0198	0.0184	0.0013	0	0.0016	0.0020	0	0.0160	0.0102	0.0071	0.0038	0.0232	1.0	0.00964	T	0.743	0.04930	T	0.0	0.02946	B	0.003	0.08700	B	0.320284	0.14282	N	0.686157	1	0.08975	N	0.14	0.08730	N	3.68	0.04151	T	0.43	0.03297	N	0.082	0.05799	-0.8997	0.48024	T	0.004	0.01261	T	10	0.0030761957	0.00051	T	.	.	.	0.016	0.02506	.	.	0.314716216878	0.31082	0.37569064836316246	0.37483	0.244964202467	0.27014	0.271674275398	0.06360	T	0.126654	0.45317	T	-0.673857	0.00052	T	-0.719775	0.04807	T	0.00674077304250171	0.00076	T	0.630137	0.24490	T	0.039595705	0.05495	0.05605384	0.09946	0.039595705	0.05495	0.05605384	0.09946	-2.302	0.04566	T	.	.	0.058	0.00670	B	.	.	0.390899	0.07625	4.288	0.21749631327509414	0.00843	0.10202	0.15773	N	AEFBI	0.179498	0.30679	N	-1.17441942802711	0.05389	0.2455513	-1.11938639794999	0.07330	0.3561344	0.999580077036567	0.40607	0.581397	0.33459	0	0.547309	0.14657	0	0.565031	0.19037	0	0.613276	0.41899	0	.	.	5.45	-0.0252	0.13262	0.099000	0.15047	1.477000	0.26794	0.756000	0.94297	0.000000	0.06391	0.213000	0.23658	0.773000	0.36634	0.5174:0.2678:0.2148:0.0	6.184	0.19702	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	3808.68	45	chr1	203486733	.	A	G	3808.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.377;DP=1083;ExcessHet=0.3300;FS=0.796;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=0.010;SOR=0.649	GT:AD:DP:GQ:PL	0/1:88,59:147:99:1491,0,2373	18	0	3	0
chr1	205529360	205529360	C	A	exonic	CDK18	.	nonsynonymous SNV	CDK18:NM_002596:exon12:c.C1109A:p.A370D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.074	B	0.102	B	0.579	N	1.000	N	-0.43	N	-0.15	T	-0.966	T	0.107	T	0.285	2.102	12.98	2.83	0.523	2.778	8.85	0.083	0.0451314838582	.	0.000199681	3.322e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs577095057	3.079e-05	3.078e-05	6.807e-06	5.501e-05	0.0005	2.347e-05	2.095e-05	0.0004	0.0004	0	0	0	0	0	0	0	0	0.0005	6.564e-06	6.561e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.122	0.30097	T	0.148	0.32675	T	0.074	0.24142	B	0.098	0.30479	B	0.579311	0.11159	N	0.827778	1	0.08975	N	.	.	.	-0.15	0.65192	T	-0.76	0.21215	N	0.369	0.46086	-0.9657	0.38073	T	0.107	0.39051	T	10	0.063385785	0.08250	T	0.045131	0.61833	D	0.083	0.24192	.	.	0.501371821861	0.49774	0.5591735980184913	0.55844	0.309982219948	0.33310	0.512490212917	0.40570	T	.	.	.	-0.343423	0.05154	T	-0.403119	0.33023	T	0.0500720121066967	0.05513	T	0.932307	0.74741	D	0.06906277	0.15101	0.17627077	0.40149	0.06906277	0.15100	0.17627077	0.40148	-6.061	0.46786	T	.	.	0.140	0.34970	B	.;.;.	.;.;.	2.365898	0.30352	18.41	0.98265403213781211	0.39703	0.12619	0.17379	N	AEFDGBHCI	0.336891	0.43487	N	-0.769828088355173	0.14101	0.6997196	-0.704732439102134	0.16843	0.8928961	0.999999999049338	0.74766	0.764865	0.99124	0	0.628146	0.54582	0	0.749866	0.98131	0	0.554799	0.18163	0	.	.	4.74	2.83	0.32150	2.860000	0.48071	2.191000	0.31208	-0.217000	0.08171	0.458000	0.26628	0.065000	0.22112	0.036000	0.13842	0.0:0.7644:0.1515:0.0842	8.85	0.34353	809	0.43032	Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2523.98	37	chr1	205529360	.	C	A	2523.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.776e+00;DP=911;ExcessHet=0.0000;FS=2.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=-1.040e-01;SOR=0.507	GT:AD:DP:GQ:PL	0/1:79,102:181:99:2538,0,2020	20	0	1	0
chr1	205915010	205915010	C	T	exonic	SLC26A9	.	nonsynonymous SNV	SLC26A9:NM_134325:exon22:c.G2546A:p.R849Q,	.	.	419	1023	79	1	0	81	0.0380818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.947	P	0.199	B	0.000	N	1.000	N	0	N	-3.25	D	-0.322	T	0.403	T	0.061	1.529	11.06	2.76	0.334	-0.025	12.608	0.300	.	0.0039	0.00758786	0.0076	0.0012	0.0028	0.0122	0.0011	0.0057	0.0066	0.0228	0.0072315	1118	154602	rs140760240	0.0060	0.0060	0.0053	0.0066	0.0283	0.0058	0.0058	0.0247	0.0234	0.0013	0.0038	0.0086	0.0104	0.0009	0.0283	0.0047	0.0069	0.0228	0.0046	0.0046	0.0046	0.0047	0.0155	0.0044	0.0042	0.0127	0.0117	0.0013	0	0.0041	0.0087	0.0133	0.0004	0.0102	0.0059	0.0047	0.0155	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	0.000003	0.00162	N	14.346700	1	0.08975	N	.	.	.	-3.25	0.93532	D	0.0	0.07008	N	0.071	0.04426	-0.3220	0.74366	T	0.403	0.75338	T	10	0.0027073324	0.00042	T	.	.	.	0.300	0.62068	.	.	0.194818534648	0.19098	0.01893306541877592	0.01847	0.157990632338	0.17844	0.204608500004	0.00603	T	.	.	.	-0.420421	0.01699	T	-0.359096	0.38158	T	0.0319549881320626	0.02299	T	0.394461	0.09873	T	.	.	.	.	.	.	.	.	-2.854	0.08691	T	.	.	0.086	0.10931	B	.;.	.;.	0.554397	0.09227	6.012	0.63638908723729615	0.07277	0.03938	0.09333	N	AEFGBI	0.081607	0.16514	N	-1.3979216659568	0.02658	0.1176788	-1.38142597711257	0.03449	0.1609509	0.992175131580337	0.32745	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.59	2.76	0.31527	0.003000	0.12984	0.330000	0.17274	-1.718000	0.00733	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.9104:0.0:0.0896	12.608	0.55889	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	8152.68	35	chr1	205915010	.	C	T	8152.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.648;DP=1511;ExcessHet=0.3300;FS=1.100;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=-3.760e-01;SOR=0.697	GT:AD:DP:GQ:PL	0/1:114,99:213:99:2433,0,2681	18	0	3	0
chr1	209837143	209837143	C	T	exonic	UTP25	.	nonsynonymous SNV	UTP25:NM_014388:exon6:c.C994T:p.R332C,	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.099	B	0.018	B	0.030	N	0.999	N	0.345	N	0.91	T	-1.049	T	0.054	T	0.323	1.902	12.32	3.03	0.846	0.860	5.746	0.036	0.00525987122179	0.0002	0.000399361	0.0008	0.0002	8.709e-05	0	0.0026	0.0009	0.0022	0.0008	0.0006145	95	154602	rs61740244	0.0003	0.0003	0.0003	0.0003	0.0005	0.0003	0.0003	0.0004	0.0003	0.0001	0.0003	0	0	0.0028	0.0005	0.0002	0.0006	0.0005	0.0003	0.0003	0.0003	0.0003	0.0006	0.0003	0.0002	0.0002	0.0002	9.626e-05	0	0.0001	0	0	0.0020	0	0.0003	0	0.0006	0.157	0.23997	T	0.146	0.32891	T	.	.	.	.	.	.	0.029898	0.25388	N	0.461717	0.99901	0.21718	N	.	.	.	0.91	0.44856	T	-1.41	0.34795	N	0.329	0.36989	-1.0494	0.14565	T	0.054	0.22808	T	10	0.0085430145	0.00194	T	0.00526	0.13433	T	0.036	0.09122	.	.	0.270447802918	0.26645	0.4098948821134726	0.40905	0.168013228179	0.18945	0.318220257759	0.13151	T	.	.	.	-0.408627	0.02030	T	-0.484192	0.24001	T	0.0106054226883812	0.00148	T	0.79482	0.43725	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.19518	B	.	.	3.122239	0.42153	21.5	0.99012642400289985	0.50399	0.24174	0.22311	N	AEFBI	0.081835	0.16563	N	-0.498724929992275	0.22123	1.179051	-0.380186323915271	0.25587	1.408111	0.999861499697187	0.44398	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.662433	0.64102	0	.	.	5.91	3.03	0.34070	0.896000	0.28009	1.823000	0.29055	0.599000	0.40250	0.028000	0.20300	0.666000	0.26041	0.983000	0.59808	0.2247:0.5833:0.0:0.1921	5.746	0.17388	889	0.27310	.	.	.	.	.	.	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	1477.98	33	chr1	209837143	.	C	T	1477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=797;ExcessHet=0.0000;FS=4.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=0.641;SOR=1.115	GT:AD:DP:GQ:PL	0/1:58,56:114:99:1492,0,1448	20	0	1	0
chr1	214641961	214641961	C	T	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon12:c.C3623T:p.A1208V,	Stromme syndrome, Autosomal recessive	.	439	1053	29	1	0	31	0.0145063	.	.	427695	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	0.703	P	0.072	B	0.890	N	1.000	N	.	.	3.96	T	-1.021	T	0.002	T	0.012	-2.527	0.003	2.41	0.455	1.568	7.694	0.178	.	0.0052	0.00499201	0.0114	0.0013	0.0034	0	0.0590	0.0122	0.0302	0.0049	0.0101357	1567	154602	rs114717799	0.0089	0.0089	0.0089	0.0088	0.0264	0.0087	0.0087	0.0230	0.0217	0.0015	0.0053	0.0040	5.047e-05	0.0547	0.0264	0.0077	0.0084	0.0051	0.0098	0.0098	0.0081	0.0116	0.0094	0.0094	0.0092	0.0088	0.0086	0.0014	0	0.0076	0.0049	0	0.0579	0.0102	0.0094	0.0085	0.0046	1.0	0.00964	T	1.0	0.01155	T	0.703	0.41913	P	0.072	0.28043	B	0.890391	0.08691	N	0.931128	1	0.08975	N	.	.	.	3.96	0.03354	T	-1.24	0.31375	N	0.028	0.00618	-1.0210	0.23389	T	0.002	0.00707	T	9	0.0026867688	0.00042	T	.	.	.	0.178	0.44724	.	.	.	.	0.05135879761021875	0.05077	0.0533753117732	0.05882	0.255381524563	0.04355	T	0.018359	0.14816	T	-0.733312	0.00023	T	-0.813804	0.01581	T	0.00720192549576328	0.00082	T	0.572743	0.20478	T	0.0153380595	0.00134	0.039670035	0.04115	0.0153380595	0.00134	0.039670035	0.04114	-4.478	0.30600	T	.	.	0.116	0.23290	B	.	.	1.207309	0.16000	12.25	0.16453813836953438	0.00442	0.29893	0.23941	N	AEFBCIJ	0.036139	0.04766	N	-0.99948591475944	0.08614	0.4046039	-1.02120673192991	0.09320	0.4629789	0.8625609320024	0.25254	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	2.41	0.28644	1.614000	0.36522	0.120000	0.14904	-1.900000	0.00525	0.391000	0.26096	0.000000	0.08366	0.086000	0.17578	0.0:0.6584:0.0:0.3416	7.694	0.27747	899	0.25060	.	.	.	.	.	.	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	1316.98	38	chr1	214641961	.	C	T	1316.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=1342;ExcessHet=0.0000;FS=0.705;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=-7.140e-01;SOR=0.581	GT:AD:DP:GQ:PL	0/1:69,50:119:99:1331,0,1803	20	0	1	0
chr1	214645259	214645259	T	C	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.T5689C:p.F1897L,	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.012	B	0.006	B	0.387	N	0.996	N	0.9	L	1.98	T	-0.979	T	0.033	T	0.095	1.289	10.22	4.32	0.912	3.074	9.207	0.078	0.00980712402638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.14843	T	0.433	0.13595	T	.	.	.	.	.	.	0.387254	0.13306	N	0.622917	0.996025	0.23136	N	.	.	.	1.98	0.21865	T	-1.74	0.41239	N	0.163	0.17140	-0.9785	0.35345	T	0.033	0.14203	T	10	0.07286334	0.10934	T	0.009807	0.25586	T	0.078	0.22779	.	.	0.101711395817	0.09552	0.1427222850839343	0.14195	0.0596198842535	0.06628	0.393260717392	0.24128	T	.	.	.	-0.260978	0.12786	T	-0.612653	0.11770	T	0.274424522710853	0.23935	T	0.527047	0.17380	T	0.08159175	0.18754	0.074692726	0.16368	0.08159175	0.18754	0.074692726	0.16367	-2.043	0.03347	T	.	.	0.785	0.76596	P	.	.	1.885814	0.23953	16.21	0.97445370788974561	0.34002	0.87114	0.46557	D	AEFBCI	0.219672	0.34452	N	-0.641218653764995	0.17716	0.9139967	-0.539133036135939	0.21094	1.139528	0.992379880728038	0.32817	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.45	4.32	0.50899	3.081000	0.49818	1.110000	0.24149	0.644000	0.52426	1.000000	0.71638	0.016000	0.20520	0.957000	0.51019	0.0:0.1458:0.0:0.8542	9.207	0.36459	901	0.24189	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.1905	842.74	162	chr1	214645259	.	T	C	842.74	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-4.014e+00;DP=2279;ExcessHet=3.5521;FS=127.609;InbreedingCoeff=-0.2304;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=0.63;ReadPosRankSum=1.21;SOR=11.454	GT:AD:DP:GQ:PL	0/1:135,39:174:28:28,0,2700	13	0	8	0
chr1	220074013	220074013	G	A	exonic	BPNT1	.	nonsynonymous SNV	BPNT1:NM_001286149:exon2:c.C14T:p.S5F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.954	D	0.000	D	1.000	D	1.975	M	0.6	T	-0.423	T	0.324	T	0.434	5.220	33	5.46	2.579	8.461	18.965	0.232	0.0154197554854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.78490	D	0.011	0.66756	D	0.976	0.73220	D	0.656	0.69447	P	0.000211	0.47681	D	0.219548	0.999952	0.52396	D	1.88	0.49984	L	0.6	0.53731	T	-2.97	0.67477	D	0.277	0.45142	-0.4230	0.71293	T	0.324	0.69229	T	10	0.43486527	0.57728	T	0.01542	0.36141	T	0.232	0.53354	0.559	0.67821	0.389750110748	0.38591	0.5169334974436691	0.51616	1.08208159744	0.77162	0.426841616631	0.28777	T	0.301469	0.74289	T	0.0152297	0.53736	T	-0.2159	0.53131	T	0.982898235321045	0.74768	D	0.950605	0.94694	D	0.48621652	0.66276	0.29615304	0.55647	0.48621652	0.66276	0.29615304	0.55646	-6.095	0.52752	T	.	.	0.301	0.53557	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.250497	0.88155	29.5	0.99866309272931864	0.94457	0.98053	0.79201	D	AEFBI	0.917709	0.88573	D	0.72359014131207	0.81179	7.461924	0.748747437073254	0.86064	8.771071	0.99999998547948	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	5.46	0.80021	9.014000	0.93156	11.727000	0.94923	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.965	0.92670	824	0.40336	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	396.55	55	chr1	220074013	.	G	A	396.55	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-3.491e+00;DP=1720;ExcessHet=2.5830;FS=279.111;InbreedingCoeff=-0.3038;MLEAC=9;MLEAF=0.281;MQ=60.00;MQRankSum=0.00;QD=0.59;ReadPosRankSum=0.665;SOR=11.761	GT:AD:DP:GQ:PL	0/1:70,32:102:75:75,0,1126	9	0	7	5
chr1	224434204	224434204	-	GGAGGAGGA	exonic	WDR26	.	nonframeshift insertion	WDR26:NM_001379403:exon1:c.201_202insTCCTCCTCC:p.S67_V68insSSS,	.	.	.	.	.	.	.	.	.	.	.	2816080	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs144531645	0.0027	0.0024	0.0027	0.0027	0.0043	0.0026	0.0026	0.0038	0.0037	0.0008	0.0018	0.0046	0.0001	0.0012	0.0025	0.0028	0.0026	0.0043	0.0019	0.0019	0.0020	0.0018	0.0047	0.0017	0.0017	0.0032	0.0027	0.0008	0	0.0021	0.0041	0	0.0018	0	0.0025	0.0005	0.0047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	5424.84	16	chr1	224434204	.	C	CGGA,CGGAGGAGGA	5424.84	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.270;DP=500;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4485;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=18.97;ReadPosRankSum=-1.880e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/1:6,8,0:14:99:318,0,228,336,252,588	8	0	12	0
chr1	225353862	225353862	C	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon73:c.C11593G:p.L3865V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.998	D	0.987	D	.	.	1.000	D	.	.	3.07	T	-1.168	T	0.067	T	0.206	3.493	17.86	4.96	2.441	4.553	15.452	0.169	0.184522215149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.495e-06	2.815e-05	1.481e-06	1.51e-06	1.943e-06	2.5e-07	9e-08	3.2e-07	1.2e-07	0	0	0	0	0	0	1.943e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.007	0.69154	D	0.998	0.73220	D	0.987	0.77487	D	.	.	.	.	1	0.81001	D	.	.	.	3.07	0.08547	T	-2.09	0.47683	N	0.478	0.51315	-1.1684	0.00571	T	0.067	0.27674	T	8	0.42786682	0.57295	T	0.184522	0.85755	D	0.169	0.43123	0.464	0.53404	0.539206206136	0.53571	.	.	.	.	0.575304269791	0.49425	T	.	.	.	-0.225988	0.17183	T	-0.562392	0.16153	T	0.954804537863371	0.64353	D	0.537746	0.18100	T	.	.	.	.	.	.	.	.	-5.635	0.43111	T	.	.	.	.	.	.;.	.;.	3.753409	0.53817	23.4	0.99763407953241845	0.85254	0.92830	0.56650	D	AEFI	0.645686	0.62149	D	0.612402131367579	0.73959	6.051873	0.603151193080595	0.75167	6.263177	0.909202901970934	0.26305	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	4.575000	0.60619	4.515000	0.43664	0.563000	0.28513	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.452	0.75010	620	0.66037	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	1666.88	81	chr1	225353862	.	C	G,CGGGG,*	1666.88	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=-1.746e+00;DP=1146;ExcessHet=3.5521;FS=219.813;InbreedingCoeff=-0.2595;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.59;ReadPosRankSum=1.17;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:78,12,24,0:114:90:.:.:567,90,2621,0,2497,2929,570,2763,2880,3332	12	0	5	1
chr1	225353862	225353862	-	GGGG	exonic	DNAH14	.	frameshift insertion	DNAH14:NM_001367479:exon73:c.11593_11594insGGGG:p.L3865Rfs*15,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1666.88	81	chr1	225353862	.	C	G,CGGGG,*	1666.88	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=-1.746e+00;DP=1146;ExcessHet=3.5521;FS=219.813;InbreedingCoeff=-0.2595;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.59;ReadPosRankSum=1.17;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:78,12,24,0:114:90:.:.:567,90,2621,0,2497,2929,570,2763,2880,3332	12	0	5	1
chr1	225353862	225353862	C	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1666.88	81	chr1	225353862	.	C	G,CGGGG,*	1666.88	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=-1.746e+00;DP=1146;ExcessHet=3.5521;FS=219.813;InbreedingCoeff=-0.2595;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.59;ReadPosRankSum=1.17;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:78,12,24,0:114:90:.:.:567,90,2621,0,2497,2929,570,2763,2880,3332	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	0/1:61,29,4:94:81:81,0,1068,269,1250,2986	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	0/1:61,29,4:94:81:81,0,1068,269,1250,2986	3	0	12	4
chr1	227080900	227080900	T	G	exonic	CDC42BPA	.	nonsynonymous SNV	CDC42BPA:NM_014826:exon16:c.A2230C:p.I744L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.998	D	0.995	D	0.000	D	1.000	D	0.915	L	0.91	T	-0.933	T	0.108	T	0.501	3.199	16.71	5.49	2.076	7.679	15.574	0.140	.	0.0072	0.0081869	0.0020	0.0222	0.0011	0	0	0	0.0011	0	0.0019405	300	154602	rs77122651	0.0005	0.0005	0.0006	0.0004	0.0187	0.0005	0.0005	0.0175	0.0170	0.0187	0.0010	0	0	0	0.0003	8.095e-06	0.0011	0	0.0056	0.0056	0.0055	0.0057	0.0197	0.0053	0.0052	0.0185	0.0181	0.0197	0	0.0021	0	0	0	0	5.88e-05	0.0028	0	0.206	0.23541	T	0.365	0.23914	T	0.973	0.57599	D	0.982	0.75477	D	0.000000	0.84330	D	0.048935	0.999997	0.81001	D	1.525	0.38595	L	0.91	0.44856	T	-1.2	0.34198	N	0.5	0.65673	-0.9333	0.43650	T	0.108	0.39123	T	10	0.007877439	0.00179	T	.	.	.	0.140	0.37593	.	.	0.168254554758	0.16434	0.432299460068035	0.43146	0.493758875756	0.47968	0.84202849865	0.88404	D	0.100967	0.40728	T	-0.390742	0.02660	T	-0.31713	0.42887	T	0.022142787388302	0.00925	T	0.923508	0.72088	D	0.23644543	0.46495	0.23353183	0.48544	0.23644543	0.46495	0.23353183	0.48543	-8.837	0.68108	D	.	.	0.755	0.75282	P	.;.;.;.;.	.;.;.;.;.	4.493270	0.70214	25.5	0.98308246103835617	0.40116	0.98227	0.80721	D	AEDGBI	0.939067	0.93915	D	0.334052847901569	0.57903	3.959725	0.446315424163048	0.64482	4.704221	0.999978676094834	0.50053	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	5.49	0.81022	7.674000	0.83146	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.574	0.76101	697	0.58201	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1676.98	34	chr1	227080900	.	T	G	1676.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.100e-02;DP=884;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=-4.200e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/1:94,74:168:99:1691,0,2324	20	0	1	0
chr1	228340848	228340848	A	G	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon72:c.A17657G:p.Y5886C	.	.	0	1521	0	1	0	2	0.00065703	.	.	707175	not_specified|not_provided|OBSCN-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	1.000	D	1.605	L	0.56	T	-0.484	T	0.247	T	0.778	4.039	20.7	5.04	2.128	7.045	13.499	0.502	.	0.0040	0.00339457	0.0012	0.0146	0.0009	0	0	0	0.0039	0	0.0009573	148	154602	rs200385051	0.0004	0.0004	0.0004	0.0003	0.0123	0.0003	0.0003	0.0114	0.0110	0.0123	0.0012	0	0	0	0.0009	1.446e-05	0.0009	3.572e-05	0.0036	0.0036	0.0035	0.0037	0.0122	0.0034	0.0033	0.0113	0.0109	0.0122	0	0.0025	0	0	0	0	4.41e-05	0.0024	0	0.0	0.91255	D	0.002	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000003	0.62929	D	0.000000	0.999573	0.58761	D	1.235	0.30780	L	0.42	0.61559	T	-6.88	0.93217	D	0.675	0.68255	-0.4844	0.69209	T	0.247	0.61589	T	10	0.011135191	0.00245	T	.	.	.	0.502	0.78475	.	.	0.812037875069	0.81027	0.5694184764812628	0.56869	0.53078089531	0.50606	0.798617959023	0.81752	T	0.276338	0.64892	T	-0.155613	0.27436	T	0.0160203	0.71371	D	0.0738865497849244	0.09186	T	0.988101	0.96008	D	0.72035444	0.79181	0.5959284	0.76540	0.77677613	0.82458	0.5295055	0.72816	-8.024	0.64244	D	.	.	0.743	0.74760	P	.;.;.;.;.	.;.;.;.;.	3.844147	0.55645	23.6	0.99184166599504731	0.54760	0.95752	0.66003	D	AEFDBHCI	0.860311	0.77815	D	0.594601833444561	0.72838	5.86896	0.555095866811882	0.71752	5.703029	0.99999998898785	0.74766	0.696267	0.57585	0	0.615948	0.52940	0	0.691665	0.62940	0	0.584449	0.35598	0	.	.	5.04	5.04	0.67293	7.022000	0.76169	11.068000	0.85542	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.069000	0.16583	1.0:0.0:0.0:0.0	13.499	0.60895	436	0.80373	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1087.98	33	chr1	228340848	.	A	G	1087.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.49;DP=1032;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.51;ReadPosRankSum=1.14;SOR=0.625	GT:AD:DP:GQ:PL	0/1:47,40:87:99:1102,0,1270	20	0	1	0
chr1	228368804	228368804	C	G	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon89:c.C19850G:p.A6617G	.	.	0	1521	0	1	0	2	0.00065703	.	.	2102351	not_provided|OBSCN-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.003	B	.	.	1.000	N	-0.45	N	-0.14	T	-1.002	T	0.012	T	0.202	2.532	14.43	-1.33	-0.489	0.212	4.190	0.017	.	0.0058	0.00459265	0.0015	0.0170	0.0008	0	0	0	0.0022	0	0.0014101	218	154602	rs192850272	0.0005	0.0005	0.0006	0.0004	0.0174	0.0005	0.0005	0.0162	0.0158	0.0174	0.0013	0	0	0	0.0012	1.259e-05	0.0012	6.956e-05	0.0049	0.0049	0.0046	0.0051	0.0166	0.0046	0.0045	0.0156	0.0151	0.0166	0	0.0027	0	0	0	0	4.41e-05	0.0033	0.0002	0.463	0.08660	T	0.175	0.29945	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-0.145	0.04423	N	-0.14	0.65006	T	-0.81	0.22294	N	0.163	0.17966	-1.0024	0.29226	T	0.012	0.04510	T	9	0.0043402016	0.00088	T	.	.	.	0.063	0.18251	.	.	0.506311303838	0.50268	0.2772593840166709	0.27638	0.0958156023377	0.10819	0.212377279997	0.00916	T	0.038953	0.25023	T	-0.508156	0.00514	T	-0.487112	0.23694	T	0.000185736541225888	0.00001	T	0.647135	0.25820	T	0.045694247	0.07525	0.041042134	0.04573	0.039185457	0.05362	0.046549074	0.06512	0.249	0.00272	T	.	.	0.095	0.15115	B	.;.;.;.	.;.;.;.	0.420573	0.07912	4.618	0.76648316324102883	0.11553	0.17285	0.19771	N	AEFDBHCI	0.110079	0.21841	N	-0.80140562993463	0.13274	0.652772	-0.874326011818334	0.12704	0.6550363	0.99995409552285	0.48110	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.09	-1.33	0.08693	0.287000	0.18678	-0.577000	0.08396	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.253000	0.23340	0.0:0.3717:0.3299:0.2985	4.190	0.09877	428	0.80967	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;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	2345.98	40	chr1	228368804	.	C	G	2345.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.184;DP=955;ExcessHet=0.0000;FS=1.740;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=1.21;SOR=0.745	GT:AD:DP:GQ:PL	0/1:99,99:198:99:2360,0,2329	20	0	1	0
chr1	228376098	228376098	C	T	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon99:c.C22877T:p.T7626M	.	.	0	1521	0	1	0	2	0.00065703	.	.	778790	not_provided|OBSCN-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.893	P	.	.	1.000	D	1.1	L	2.01	T	-1.149	T	0.056	T	0.511	4.054	20.8	5.74	2.712	1.619	9.734	0.151	.	0.0039	0.00399361	0.0012	0.0113	0.0009	0	0	0	0.0023	0.0012	0.001119	173	154602	rs184394044	0.0004	0.0004	0.0004	0.0004	0.0111	0.0004	0.0004	0.0102	0.0098	0.0111	0.0013	0	0	0	0.0009	2.518e-05	0.0009	0.0012	0.0033	0.0033	0.0031	0.0035	0.0109	0.0031	0.0030	0.0101	0.0098	0.0109	0	0.0023	0	0	0	0	7.351e-05	0.0028	0.0012	0.033	0.44358	D	0.016	0.60972	D	0.999	0.77913	D	0.893	0.63340	P	.	.	.	.	0.977275	0.26050	N	1.1	0.28011	L	2.01	0.21291	T	-2.22	0.49846	N	0.361	0.40565	-1.1488	0.01061	T	0.056	0.23639	T	9	0.008686632	0.00197	T	.	.	.	0.151	0.39764	.	.	0.57330664977	0.56998	0.3409646576591065	0.34009	0.500387696712	0.48461	0.478754103184	0.35885	T	0.083654	0.37103	T	-0.442878	0.01244	T	-0.397264	0.33704	T	0.0409353046935864	0.03860	T	0.880812	0.59928	D	0.04122391	0.06030	0.08304747	0.19001	0.04122391	0.06030	0.08304747	0.19001	-8.476	0.64270	D	.	.	0.205	0.43088	B	.;.;.;.	.;.;.;.	2.749321	0.36028	20.1	0.99012206473624442	0.50377	0.55589	0.29902	D	AEFDBI	0.151083	0.27550	N	0.316522593539708	0.56995	3.865482	0.292956802109291	0.55128	3.676118	0.999970344486263	0.50053	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.74	5.74	0.90070	2.529000	0.45292	7.524000	0.59808	0.599000	0.40250	0.990000	0.36992	1.000000	0.68203	0.221000	0.22489	0.0:0.8097:0.0:0.1903	9.734	0.39542	428	0.80967	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1835.98	36	chr1	228376098	.	C	T	1835.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.458;DP=909;ExcessHet=0.0000;FS=7.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.74;ReadPosRankSum=-5.000e-01;SOR=0.838	GT:AD:DP:GQ:PL	0/1:91,80:171:99:1850,0,2064	20	0	1	0
chr1	230767705	230767705	T	C	exonic	CAPN9	.	nonsynonymous SNV	CAPN9:NM_001319676:exon3:c.T512C:p.I171T	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.983	D	0.949	D	0.000	D	1.000	D	2.165	M	2.53	T	-1.133	T	0.050	T	0.349	3.738	18.98	5.43	2.049	7.790	15.477	0.238	.	0.0079	0.00698882	0.0024	0.0246	0.0019	0	0.0002	0.0002	0	0	0.0022768	352	154602	rs28359644	0.0008	0.0008	0.0009	0.0007	0.0239	0.0008	0.0008	0.0225	0.0220	0.0239	0.0024	0	0	1.873e-05	0.0009	0.0001	0.0021	4.644e-05	0.0069	0.0069	0.0070	0.0068	0.0235	0.0066	0.0064	0.0223	0.0218	0.0235	0	0.0036	0	0	0	0	0.0001	0.0105	0	0.0	0.91255	D	0.015	0.62352	D	0.983	0.60381	D	0.938	0.68658	D	0.000002	0.62929	D	0.133261	1	0.81001	D	1.98	0.53716	M	2.53	0.14038	T	-4.73	0.80085	D	0.865	0.86191	-1.1334	0.01627	T	0.050	0.21417	T	10	0.010089964	0.00226	T	.	.	.	0.238	0.54217	.	.	0.338592109245	0.33472	0.8282350852191549	0.82781	0.485656705025	0.47436	0.493134140968	0.37873	T	0.382192	0.74433	T	-0.433334	0.01416	T	-0.376977	0.36076	T	0.0412787322498623	0.03923	T	0.907909	0.75346	D	0.85325307	0.87576	0.7737136	0.86646	0.85325307	0.87578	0.7737136	0.86647	-8.656	0.66999	D	.	.	0.309	0.53709	B	.;.;.	.;.;.	4.221740	0.63864	24.6	0.99761078228566691	0.85091	0.99579	0.97647	D	AEFDBI	0.873049	0.79520	D	0.670579442531295	0.77705	6.726476	0.639778249241017	0.77853	6.759739	0.999987100414471	0.51787	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.43	5.43	0.79006	7.769000	0.84183	5.698000	0.49367	0.665000	0.62972	1.000000	0.71638	0.995000	0.32472	0.403000	0.26849	0.0:0.0:0.0:1.0	15.477	0.75221	923	0.18507	Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1854.98	36	chr1	230767705	.	T	C	1854.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=1056;ExcessHet=0.0000;FS=7.564;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=-5.650e-01;SOR=1.190	GT:AD:DP:GQ:PL	0/1:106,76:182:99:1869,0,2678	20	0	1	0
chr1	230978734	230978734	-	CAGCAG	exonic	TTC13	.	nonframeshift insertion	TTC13:NM_001122835:exon1:c.96_97insCTGCTG:p.L32_G33insLL	.	.	421	1098	1	0	2	3	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00539137	0.0007	0.0256	0	0	.	0.0010	0	0	0.0013831	36	26028	rs540520221	0.0009	0.0008	0.0009	0.0008	0.0232	0.0008	0.0008	0.0217	0.0211	0.0232	0.0043	0.0002	3.269e-05	0	0.0023	0.0002	0.0033	4.144e-05	0.0073	0.0074	0.0077	0.0069	0.0242	0.0069	0.0068	0.0229	0.0224	0.0242	0	0.0050	0.0003	0	0	0	0.0002	0.0071	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	489.94	33	chr1	230978734	.	C	CCAGCAG	489.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=665;ExcessHet=0.0000;FS=6.495;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.15;ReadPosRankSum=0.340;SOR=1.865	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,13:27:99:0|1:230978734_C_CCAGCAG:504,0,529:230978734	20	0	1	0
chr1	231366427	231366427	C	A	exonic	EGLN1	.	nonsynonymous SNV	EGLN1:NM_022051:exon5:c.G1265T:p.G422V,	Erythrocytosis, familial, 3, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1820925	not_specified|Erythrocytosis,_familial,_3	MedGen:CN169374|MONDO:MONDO:0012353,MedGen:C1853286,OMIM:609820,Orphanet:247511	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.002	B	0.180	N	0.916	D	-1.1	N	-2.19	D	-0.630	T	0.287	T	0.09	1.028	9.197	4.93	1.461	1.468	11.902	0.274	0.0321865065495	.	.	5.769e-05	0	0	0	0	1.499e-05	0	0.0004	4.53e-05	7	154602	rs763596301	2.052e-05	2.052e-05	9.529e-06	3.163e-05	0.0003	1.456e-05	1.264e-05	0.0002	0.0002	0	0	0	0	0	0.0002	1.799e-06	3.312e-05	0.0003	1.316e-05	1.314e-05	1.286e-05	1.347e-05	0.0004	2.19e-06	8.2e-07	7.315e-05	3.038e-05	0	0	0	0	0	0	0	0	0	0.0004	0.203	0.20154	T	0.358	0.17064	T	0.001	0.07471	B	0.002	0.06944	B	0.180058	0.17127	N	0.575234	0.916267	0.36548	D	-1.04	0.01097	N	-2.19	0.86815	D	-1.08	0.28084	N	0.085	0.06190	-0.6304	0.63553	T	0.287	0.65890	T	10	0.0538446	0.05640	T	0.032187	0.54080	D	0.274	0.59007	0.1	0.01484	0.360519921382	0.35659	0.38706289256227255	0.38621	1.409654094	0.85419	0.324708282948	0.14134	T	0.268391	0.64050	T	-0.321216	0.06798	T	-0.394633	0.34009	T	0.0637081428541147	0.07739	T	0.629237	0.24427	T	0.10729315	0.25369	0.112979636	0.27263	0.10729315	0.25369	0.112979636	0.27263	-4.424	0.29880	T	.	.	0.117	0.23605	B	.	.	1.286455	0.16869	12.81	0.79252269184489421	0.12658	0.93541	0.58498	D	AEFBI	0.268511	0.38499	N	-0.501443035610765	0.22033	1.173674	-0.255152766285203	0.29594	1.659269	0.999994929846765	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.84	4.93	0.64394	1.514000	0.35441	1.147000	0.24451	0.596000	0.33519	1.000000	0.71638	0.999000	0.35428	0.396000	0.26692	0.1378:0.7299:0.1324:0.0	11.902	0.51972	661	0.61838	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	958.98	33	chr1	231366427	.	C	A	958.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.047;DP=755;ExcessHet=0.0000;FS=1.046;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.25;ReadPosRankSum=0.800;SOR=0.465	GT:AD:DP:GQ:PL	0/1:21,38:59:99:973,0,453	20	0	1	0
chr1	241660637	241660637	G	A	exonic	WDR64	.	nonsynonymous SNV	WDR64:NM_001367482:exon2:c.G253A:p.D85N,	.	.	430	1091	1	0	0	1	0.000458085	.	.	2219445	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	0.006	N	0.997	N	2.045	M	0.44	T	-0.895	T	0.182	T	0.014	1.960	12.51	2.47	0.232	4.020	6.193	0.225	0.0219863957676	0.0015	.	0.0005	0.0014	0	0	0	0.0009	0	0	0.0002846	44	154602	rs201050656	0.0012	0.0011	0.0012	0.0012	0.0023	0.0011	0.0011	0.0019	0.0017	0.0004	0.0023	0	0	4.056e-05	0.0002	0.0014	0.0010	0	0.0010	0.0010	0.0013	0.0008	0.0021	0.0009	0.0008	0.0015	0.0013	0.0004	0	0.0021	0	0	0	0.0102	0.0015	0.0014	0	0.01	0.56456	D	0.012	0.63918	D	.	.	.	.	.	.	0.006367	0.32080	N	0.213463	1	0.08975	N	2.685	0.78553	M	0.42	0.56937	T	-3.68	0.70314	D	0.264	0.29889	-0.8947	0.48512	T	0.182	0.53026	T	8	0.029717296	0.01098	T	0.021986	0.44830	T	0.225	0.52323	.	.	0.139678290688	0.13603	0.39766318765350744	0.39681	0.0817970111482	0.09213	0.436706483364	0.30127	T	0.075862	0.35279	T	-0.566216	0.00233	T	-0.592274	0.13469	T	0.0676026917992913	0.08311	T	0.671533	0.28021	T	0.09419986	0.22142	0.069598556	0.14684	0.09419986	0.22142	0.069598556	0.14684	-3.652	0.18612	T	.	.	0.089	0.11989	B	.	.	2.346690	0.30078	18.33	0.99467550868907051	0.66154	0.62931	0.31932	D	AEFI	0.198314	0.32518	N	-0.264710655869414	0.30521	1.702574	-0.352004736131554	0.26447	1.460858	0.00156811698196575	0.08647	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.45	2.47	0.29113	4.410000	0.59530	4.376000	0.43165	-0.148000	0.12190	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.1749:0.1504:0.6747:0.0	6.193	0.19748	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1797.98	33	chr1	241660637	.	G	A	1797.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=843;ExcessHet=0.0000;FS=6.870;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=-9.930e-01;SOR=1.254	GT:AD:DP:GQ:PL	0/1:69,66:135:99:1812,0,1781	20	0	1	0
chr1	244552666	244552666	G	A	exonic	CATSPERE	.	nonsynonymous SNV	CATSPERE:NM_001242340:exon6:c.G428A:p.R143Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.239	B	0.034	B	0.000	N	1.000	N	1.175	L	1.57	T	-1.069	T	0.046	T	0.065	1.670	11.54	-11.2	-4.488	-1.469	8.462	0.060	0.00467926238764	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs774437688	4.515e-05	4.515e-05	4.356e-05	4.675e-05	0.0005	3.641e-05	3.321e-05	0.0003	0.0003	0	0	0	0.0005	0	0	3.777e-05	6.623e-05	1.159e-05	7.893e-05	7.882e-05	8.998e-05	6.736e-05	0.0002	4.501e-05	3.516e-05	0.0001	8.463e-05	0.0002	0	0	0	0	0	0	4.41e-05	0	0	0.137	0.29823	T	0.274	0.23164	T	0.239	0.30839	B	0.034	0.22546	B	0.000019	0.00348	N	4.079040	1	0.08975	N	.	.	.	1.57	0.29602	T	-0.65	0.18877	N	0.092	0.08088	-1.0691	0.09612	T	0.046	0.19720	T	10	0.061074495	0.07602	T	0.004679	0.11628	T	0.060	0.17295	0.402	0.43245	0.0806252709748	0.07271	0.15033613855731834	0.14955	0.190945093199	0.21410	.	.	.	0.004135	0.03542	T	-0.45494	0.01056	T	-0.760815	0.03084	T	0.0874546300747299	0.10912	T	0.642936	0.25461	T	0.03285271	0.03389	0.03571256	0.02875	0.03285271	0.03388	0.03571256	0.02875	-3.429	0.17713	T	.	.	0.122	0.26138	B	.;.;.;.	.;.;.;.	-1.823504	0.00149	0.002	0.83315087075535965	0.14659	0.00192	0.01112	N	AEFDGHCI	0.031044	0.03239	N	-1.81982219734544	0.00498	0.02145423	-1.99962807093466	0.00307	0.01354861	1.0	0.98316	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.6	-11.2	0.00099	-1.169000	0.03230	-9.055000	0.00874	-0.790000	0.03253	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6234:0.2119:0.0937:0.0709	8.462	0.32093	816	0.41767	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2486.98	37	chr1	244552666	.	G	A	2486.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.822;DP=869;ExcessHet=0.0000;FS=3.144;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.25;ReadPosRankSum=2.12;SOR=0.458	GT:AD:DP:GQ:PL	0/1:61,92:153:99:2501,0,1545	20	0	1	0
chr2	247601	247601	T	G	exonic	SH3YL1	.	nonsynonymous SNV	SH3YL1:NM_001159597:exon4:c.A228C:p.K76N	.	.	433	1084	5	0	0	5	0.00230097	0.0002	0.122	2345831	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.002	B	0.582	N	1.000	D	0.11	N	2.1	T	-0.987	T	0.029	T	0.065	3.251	16.90	-9.43	-1.629	-0.966	17.261	0.064	0.0064106663685	.	.	0.0002	0	0	0	0	0.0002	0	0.0003	3.23e-05	5	154602	rs774447403	9.66e-05	9.371e-05	0.0001	8.85e-05	0.0006	8.324e-05	7.773e-05	0.0004	0.0003	3.175e-05	0.0006	0.0027	0	0	0.0004	2.04e-05	0.0003	7.617e-05	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0001	0.0006	0.0005	2.414e-05	0	0.0010	0.0043	0	0	0	2.941e-05	0	0	0.046	0.52492	D	0.074	0.48336	T	0.0	0.02946	B	0.002	0.06944	B	0.581519	0.05538	N	1.191960	1	0.81001	D	0.235	0.09667	N	2.1	0.22678	T	0.23	0.06612	N	0.159	0.16586	-0.9874	0.33249	T	0.029	0.12497	T	10	0.013164759	0.00280	T	0.006411	0.16870	T	0.064	0.18567	0.341	0.33302	0.12205267543	0.11705	0.6093513504000334	0.60867	0.0920772939571	0.10393	0.475710749626	0.35467	T	0.083852	0.37148	T	-0.589454	0.00169	T	-0.706216	0.05492	T	0.023600884371108	0.01096	T	0.963804	0.87680	D	0.06718583	0.14526	0.08173434	0.18598	0.06718583	0.14526	0.08173434	0.18597	-7.247	0.55925	T	.	.	0.166	0.48797	B	.;.;.;.;.;.	.;.;.;.;.;.	0.367461	0.07401	4.025	0.93085878955373069	0.22708	0.04706	0.10396	N	AEFBI	0.085095	0.17249	N	-1.41558039395315	0.02501	0.1105562	-1.45744711567475	0.02703	0.1248197	0.999160767696491	0.38622	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	6.12	-9.43	0.00512	-1.148000	0.03295	-4.550000	0.02100	-0.113000	0.14837	0.011000	0.18532	0.000000	0.08366	0.859000	0.40722	0.0:0.7468:0.1074:0.1458	17.261	0.86956	826	0.39940	.;SH3YL1-like, SYLF domain;SH3YL1-like, SYLF domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1348.98	33	chr2	247601	.	T	G	1348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.700e-01;DP=763;ExcessHet=0.0000;FS=1.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.99;ReadPosRankSum=0.550;SOR=0.485	GT:AD:DP:GQ:PL	0/1:39,51:90:99:1363,0,980	20	0	1	0
chr2	3643816	3643816	G	A	exonic	COLEC11	.	nonsynonymous SNV	COLEC11:NM_001255989:exon4:c.G292A:p.G98S	3MC syndrome 2, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	2871635	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.66	T	1.0	D	0.997	D	0.000	D	0.999	N	-0.095	N	2.35	T	-1.032	T	0.028	T	0.221	0.055	4.299	3.38	0.559	3.887	9.906	0.120	0.037341792101	0.0006	0.000798722	0.0006	0	0.0003	0	0	0.0005	0	0.0024	0.0005627	87	154602	rs148786016	0.0007	0.0007	0.0006	0.0008	0.0025	0.0007	0.0007	0.0022	0.0021	0	0.0003	0	0	3.786e-05	0.0024	0.0007	0.0006	0.0025	0.0005	0.0005	0.0005	0.0006	0.0021	0.0004	0.0004	0.0011	0.0009	0.0001	0	0.0003	0	0	9.406e-05	0	0.0009	0.0009	0.0021	0.72	0.04162	T	0.737	0.05345	T	0.342	0.90584	B	0.142	0.86255	B	0.000023	0.55875	D	0.151914	0.998703	0.21971	N	0.445	0.12748	N	2.35	0.16217	T	0.64	0.03761	N	0.213	0.23758	-1.0323	0.19713	T	0.028	0.12147	T	10	0.010466158	0.00233	T	0.037342	0.57560	D	0.120	0.33359	.	.	0.474248596982	0.47055	0.489012972947932	0.48821	0.467365606854	0.46119	0.59309887886	0.51931	T	0.005761	0.05208	T	-0.5588	0.00258	T	-0.580691	0.14484	T	0.0622629155497048	0.07521	T	0.911709	0.71216	D	0.2247933	0.45129	0.17412324	0.39786	0.2247933	0.45129	0.17412324	0.39785	-4.777	0.44145	T	0.18115727126982825	0.23346	0.081	0.09965	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.899494	0.24122	16.28	0.89985526275771821	0.19278	0.79214	0.39210	D	AEFBI	0.704039	0.65988	D	-0.428959818986816	0.24460	1.320806	-0.424622067489198	0.24278	1.328528	0.994932043090987	0.33870	0.580535	0.33130	0	0.624146	0.53433	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.2	3.38	0.37806	3.988000	0.56662	3.343000	0.37723	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.458000	0.28074	0.0763:0.1395:0.7842:0.0	9.906	0.40544	946	0.12043	.;.;C-type lectin-like|C-type lectin-like|C-type lectin-like|Collectin, C-type lectin-like domain;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1943.98	38	chr2	3643816	.	G	A	1943.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=886;ExcessHet=0.0000;FS=2.634;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.43;ReadPosRankSum=0.101;SOR=1.038	GT:AD:DP:GQ:PL	0/1:56,70:126:99:1958,0,1418	20	0	1	0
chr2	8731667	8731667	C	A	exonic	KIDINS220	.	nonsynonymous SNV	KIDINS220:NM_001348734:exon28:c.G4201T:p.V1401F	Spastic paraplegia, intellectual disability, nystagmus, and obesity, Autosomal dominant	.	0	225	1	0	0	1	0.00221729	.	.	1493504	not_provided|KIDINS220-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	N	0.805	L	-0.27	T	-0.211	T	0.381	T	0.731	3.600	18.33	5.92	2.804	2.954	20.321	0.267	0.0331447486705	0.0003	0.000199681	0.0002	0	0.0003	0	0	0.0004	0	0	0.0002264	35	154602	rs201478192	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0008	0.0006	2.987e-05	0.0003	0	0	0	0.0016	0.0003	0.0002	0.0001	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	4.812e-05	0	0.0004	0	0	0	0	0.0005	0	0	0.009	0.57480	D	0.088	0.40909	T	0.848	0.46844	P	0.536	0.48739	P	0.000455	0.44317	D	0.190366	0.920363	0.36659	D	1.87	0.49600	L	-0.32	0.68181	T	-1.87	0.43717	N	0.546	0.58202	-0.2109	0.77391	T	0.381	0.73759	T	10	0.2126159	0.37727	T	0.033145	0.54776	D	0.267	0.58126	.	.	0.750831387573	0.74858	0.2405650855857398	0.23970	0.791584931825	0.65811	0.600859761238	0.53025	T	0.359211	0.72565	T	-0.0976181	0.36819	T	-0.0330599	0.68166	D	0.0546171766497961	0.06292	T	0.915408	0.69775	D	0.14226788	0.32747	0.181102	0.40951	0.14226788	0.32746	0.181102	0.40951	-2.88	0.08945	T	.	.	0.121	0.29311	B	.;.	.;.	4.304373	0.65746	24.9	0.99658594536209455	0.77757	0.93775	0.59155	D	AEFBI	0.409562	0.48079	N	0.439965944003812	0.63636	4.601221	0.497679677005859	0.67837	5.137661	0.999998498738197	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	5.417000	0.66162	5.998000	0.52441	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	20.321	0.98679	964	0.07719	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1883.98	41	chr2	8731667	.	C	A	1883.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.347;DP=1014;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=1.67;SOR=0.697	GT:AD:DP:GQ:PL	0/1:79,71:150:99:1898,0,2192	20	0	1	0
chr2	20283096	20283096	T	A	exonic	PUM2	.	nonsynonymous SNV	PUM2:NM_001282752:exon11:c.A1403T:p.Y468F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.999	D	0.995	D	0.000	D	1.000	D	1.795	L	2.43	T	-1.050	T	0.114	T	0.57	4.722	26.3	6.17	2.371	7.736	16.822	0.244	0.0200638685408	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215173873	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.038	0.42783	D	0.615	0.15109	T	0.999	0.77913	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	2.13	0.19588	T	-1.38	0.36385	N	0.64	0.65245	-1.0495	0.14537	T	0.114	0.40467	T	10	0.35929072	0.52600	T	0.020064	0.42574	T	0.244	0.55061	0.403	0.43408	0.0934897674506	0.08844	0.5202006340569856	0.51943	1.14252962427	0.78974	0.697671890259	0.66808	T	0.034447	0.23326	T	-0.0470009	0.44902	T	-0.30529	0.44164	T	0.800291240215302	0.46372	D	0.998065	0.99120	D	.	.	.	.	.	.	.	.	-4.237	0.27284	T	.	.	0.231	0.46378	B	.;.;.;.;.	.;.;.;.;.	4.354857	0.66921	25.0	0.98832637871561502	0.46985	0.96621	0.70062	D	AEDGBHCIJ	0.882694	0.81102	D	0.65374646415072	0.76614	6.518692	0.691310684756011	0.81719	7.59283	1.0	0.98316	0.719381	0.83141	0	0.724815	0.89359	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	6.17	6.17	0.99707	7.822000	0.84804	7.931000	0.75020	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.822	0.85699	818	0.41518	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1884.98	33	chr2	20283096	.	T	A	1884.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=803;ExcessHet=0.0000;FS=3.402;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.71;ReadPosRankSum=0.390;SOR=0.414	GT:AD:DP:GQ:PL	0/1:54,66:120:99:1899,0,1426	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	0/1:56,37:93:99:.:.:181,0,614	7	0	13	1
chr2	25531539	25531539	G	A	exonic	DTNB	.	nonsynonymous SNV	DTNB:NM_001320935:exon7:c.C323T:p.T108M	.	.	431	1077	14	0	0	14	0.00645756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.72	P	0.417	B	0.013	N	0.996	N	0	N	2.23	T	-1.030	T	0.069	T	0.209	2.648	14.81	4.21	2.381	2.034	11.377	0.061	0.00823607720504	0.0005	0.000998403	0.0011	0.0001	8.64e-05	0	0	0.0005	0.0022	0.0055	0.0009508	147	154602	rs200652614	0.0009	0.0009	0.0007	0.0011	0.0062	0.0009	0.0008	0.0058	0.0056	0.0003	0.0002	3.826e-05	0	0	0.0031	0.0006	0.0006	0.0062	0.0008	0.0008	0.0007	0.0009	0.0058	0.0007	0.0006	0.0041	0.0036	0.0003	0	0.0002	0	0.0002	0	0	0.0011	0.0009	0.0058	0.008	0.59928	D	0.054	0.48336	T	0.466	0.42342	P	0.172	0.44992	B	0.013371	0.28863	N	0.401503	0.99781	0.23152	N	0.69	0.16971	N	2.23	0.18570	T	-1.0	0.26843	N	0.204	0.28028	-1.0296	0.20583	T	0.069	0.28147	T	10	0.0072978735	0.00166	T	0.008236	0.21827	T	0.061	0.17616	.	.	0.502939388887	0.49933	0.14946176049510504	0.14868	0.223345546484	0.24863	0.383333981037	0.22729	T	0.26617	0.63809	T	-0.537402	0.00347	T	-0.543075	0.17995	T	0.0105567362376186	0.00147	T	0.979302	0.92791	D	0.037670348	0.04875	0.065603696	0.13322	0.037670348	0.04874	0.065603696	0.13321	-7.893	0.65523	D	.	.	0.090	0.13737	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.071897	0.60509	24.2	0.99506871877872161	0.68381	0.78110	0.38489	D	AEFDI	0.198230	0.32510	N	-0.0276785468109839	0.40606	2.414228	0.128982196412533	0.46039	2.856465	0.980569735747186	0.30151	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.15	4.21	0.48984	2.175000	0.42119	7.290000	0.58051	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	0.0:0.312:0.688:0.0	11.377	0.48971	721	0.55360	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	898.98	33	chr2	25531539	.	G	A	898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.598;DP=783;ExcessHet=0.0000;FS=1.724;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.99;ReadPosRankSum=0.758;SOR=0.748	GT:AD:DP:GQ:PL	0/1:49,41:90:99:913,0,1101	20	0	1	0
chr2	26450071	26450071	G	A	exonic	DRC1	.	nonsynonymous SNV	DRC1:NM_145038:exon12:c.G1585A:p.D529N,	Ciliary dyskinesia, primary, 21, Autosomal recessive	.	404	1115	3	0	0	3	0.00134348	.	.	1401341	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.979	D	0.818	P	0.024	N	0.997	D	2.75	M	2.06	T	-0.849	T	0.142	T	0.229	4.589	25.0	5.48	2.569	4.495	16.260	0.277	0.0179915570485	.	0.000199681	0.0001	0	0	0	0	0	0	0.0010	0.0001229	19	154602	rs201581530	8.213e-05	8.209e-05	3.405e-05	0.0001	0.0013	7.005e-05	6.556e-05	0.0011	0.0010	0	0	0	0	0	0	3.598e-06	9.937e-05	0.0013	3.283e-05	3.281e-05	0	6.715e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.022	0.48642	D	0.149	0.32568	T	0.979	0.59044	D	0.818	0.58969	P	0.023532	0.26426	N	0.423148	0.997006	0.43563	D	3.35	0.91085	M	2.06	0.20523	T	-4.04	0.74427	D	0.743	0.74280	-0.8492	0.52024	T	0.142	0.46367	T	10	0.7673018	0.76804	D	0.017992	0.39899	T	0.277	0.59375	0.846	0.94965	0.58934274002	0.58610	0.6412930582721599	0.64064	0.351789939051	0.37014	0.522833347321	0.42025	T	0.144957	0.48184	T	-0.427777	0.01529	T	-0.44644	0.28090	T	0.952072501182556	0.63707	D	0.856214	0.54490	D	0.28250384	0.51287	0.3215141	0.58099	0.29711315	0.52644	0.36110395	0.61540	-7.027	0.54231	T	.	.	0.400	0.59595	A	.	.	4.829767	0.78746	27.0	0.999277552270738	0.99163	0.95364	0.64432	D	AEFDBI	0.612012	0.60024	D	0.714871369216017	0.80608	7.331878	0.683959181540347	0.81162	7.462464	0.999999452720547	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.48	5.48	0.80675	4.684000	0.61374	11.330000	0.92539	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.827000	0.38976	0.0:0.0:1.0:0.0	16.260	0.82360	417	0.81662	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	761.98	33	chr2	26450071	.	G	A	761.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.813e+00;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.52;ReadPosRankSum=-1.989e+00;SOR=0.665	GT:AD:DP:GQ:PL	0/1:45,35:80:99:776,0,1223	20	0	1	0
chr2	36597916	36597916	A	C	exonic	FEZ2	.	nonsynonymous SNV	FEZ2:NM_001042548:exon1:c.T227G:p.V76G	.	.	.	.	.	.	.	.	.	.	.	2381119	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.773	P	0.146	B	0.000	D	1.000	D	2.165	M	0.61	T	-0.858	T	0.118	T	0.623	2.960	15.87	3.8	1.611	3.986	10.585	0.246	0.36614029052	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1018345063	5.756e-05	5.883e-05	5.557e-05	5.964e-05	0.0008	4.678e-05	4.303e-05	0.0003	0.0002	0.0005	0.0002	0	0	0	0.0008	4.187e-05	0.0002	0	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0005	0.0005	0.0007	0	0.0003	0	0	0	0	0.0002	0.0005	0	0.026	0.46910	D	0.011	0.64786	D	0.773	0.44016	P	0.146	0.33945	B	0.000030	0.55875	D	0.069773	1	0.81001	D	2.69	0.78713	M	0.61	0.53516	T	-2.85	0.60029	D	0.33	0.37093	-0.8579	0.51413	T	0.118	0.41538	T	10	0.4503225	0.58657	T	0.36614	0.92633	D	0.246	0.55340	0.752	0.88237	0.61403422888	0.61091	0.5743110633764213	0.57360	0.0143745207124	0.01365	0.875767529011	0.93382	D	0.135199	0.46687	T	-0.261065	0.12775	T	-0.19333	0.55277	T	0.270508348941803	0.23769	T	0.626337	0.24237	T	0.43530113	0.63098	0.49611756	0.70861	0.43530113	0.63099	0.49611756	0.70861	-3.085	0.12358	T	.	.	0.154	0.36174	B	.;.	.;.	3.635886	0.51531	23.1	0.95725106337124899	0.27656	0.76941	0.37778	D	ALL	0.574378	0.57719	D	0.0779058885945339	0.45432	2.799942	0.117507316194229	0.45445	2.807498	0.999999999999998	0.74766	0.441713	0.08003	0	0.218748	0.04544	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	3.8	3.8	0.42887	3.539000	0.53359	8.803000	0.78264	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.571000	0.30675	1.0:0.0:0.0:0.0	10.585	0.44465	857	0.34089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	194.98	30	chr2	36597916	.	A	C	194.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=654;ExcessHet=0.0000;FS=1.410;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.27;ReadPosRankSum=-1.000e-01;SOR=1.073	GT:AD:DP:GQ:PL	0/1:26,11:37:99:209,0,590	20	0	1	0
chr2	38071251	38071251	C	T	exonic	CYP1B1	.	nonsynonymous SNV	CYP1B1:NM_000104:exon3:c.G1103A:p.R368H,	Anterior segment dysgenesis 6, multiple subtypes;Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Autosomal recessive	YES	0	1399	110	13	0	136	0.0463531	.	.	22778	not_provided|Irido-corneo-trabecular_dysgenesis|Glaucoma_3A|not_specified|Congenital_ocular_coloboma|Congenital_glaucoma|Myopathy,_centronuclear,_5|Anterior_segment_dysgenesis_6|CYP1B1-related_disorder|Glaucoma,_early-onset,_digenic	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708|MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194|MONDO:MONDO:0020366,MedGen:C0020302|MONDO:MONDO:0014418,MedGen:C4014814,OMIM:615959,Orphanet:169186|MONDO:MONDO:0015016,MedGen:C4310623,OMIM:617315|MedGen:CN239260|MedGen:C4016760	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.978	D	0.000	D	1.000	A	2.695	M	-0.56	T	0.251	D	0.577	D	0.897	4.585	24.9	5.65	2.657	7.675	17.194	0.751	.	0.0016	0.00419329	0.0062	0.0004	0.0033	0	0	0.0029	0.0138	0.0294	0.0050646	783	154602	rs79204362	0.0032	0.0032	0.0022	0.0043	0.0311	0.0032	0.0031	0.0302	0.0298	0.0005	0.0021	0.0205	5.038e-05	7.643e-05	0.0236	0.0009	0.0041	0.0311	0.0020	0.0020	0.0016	0.0025	0.0245	0.0018	0.0018	0.0209	0.0195	0.0005	0	0.0012	0.0179	0	0	0.0205	0.0011	0.0047	0.0245	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	0.000000	0.84330	D	0.050909	0.999999	0.58761	A	3.06	0.86941	M	.	.	.	.	.	.	0.819	0.85132	0.251	0.86759	D	0.577	0.84738	D	9	0.009640098	0.00217	T	.	.	.	.	.	.	.	0.341696514166	0.33777	0.8175150785253305	0.81708	.	.	0.417915016413	0.27551	T	0.59259	0.86824	D	0.0961558	0.63873	D	0.388342	0.91724	D	0.0597581842735867	0.07131	T	0.933807	0.75196	D	0.90570295	0.91898	0.68082505	0.81245	0.8872861	0.90276	0.8142974	0.89175	-9.232	0.69178	D	.	.	0.200	0.42404	B	.;.	.;.	5.330663	0.89461	30	0.99942312783438658	0.99824	0.96543	0.69666	D	AEFDGBCI	0.942825	0.94789	D	0.728153233663213	0.81478	7.531585	0.629670928743175	0.77105	6.615648	1.0	0.98316	0.542737	0.22433	0	0.685571	0.66316	0	0.401104	0.06395	2	0.530356	0.10902	0	.	.	5.65	5.65	0.86881	7.798000	0.84489	7.710000	0.66754	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	17.194	0.86768	914	0.21048	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	6219.11	34	chr2	38071251	.	C	T	6219.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.37;DP=1312;ExcessHet=0.1072;FS=1.103;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=1.33;SOR=0.599	GT:AD:DP:GQ:PL	0/1:146,150:296:99:3689,0,3356	19	0	2	0
chr2	47798646	47798646	A	C	exonic	MSH6	.	nonsynonymous SNV	MSH6:NM_001281492:exon2:c.A273C:p.E91D	Colorectal cancer, hereditary nonpolyposis, type 5, Autosomal dominant;Endometrial cancer, familial;Mismatch repair cancer syndrome, Autosomal recessive	YES	0	1516	6	0	0	6	0.00197498	.	.	95026	Breast_and/or_ovarian_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|Carcinoma_of_colon|Abnormality_of_the_ovary|not_provided|Hereditary_nonpolyposis_colorectal_neoplasms|Lynch_syndrome_5|Hereditary_cancer	MedGen:CN221562|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0002032,MedGen:C0699790|Human_Phenotype_Ontology:HP:0000137,MONDO:MONDO:0005558,MedGen:C4021818|MedGen:C3661900|MeSH:D003123,MedGen:C0009405|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144|MedGen:C1333600	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.884	P	0.268	B	0.704	N	1.000	D	1.52	L	0.16	T	-0.561	T	0.384	T	0.427	1.422	10.69	-0.723	-0.032	-0.302	4.968	0.316	0.0227959788225	0.0008	.	0.0006	0.0003	0.0002	0	0	0.0009	0	0.0007	0.0006015	93	154602	rs41557217	0.0008	0.0008	0.0007	0.0008	0.0012	0.0007	0.0007	0.0010	0.0010	5.974e-05	0.0005	0	0	5.756e-05	0.0007	0.0008	0.0005	0.0012	0.0006	0.0006	0.0006	0.0007	0.0009	0.0005	0.0005	0.0007	0.0007	0.0003	0	0.0009	0	0.0002	0	0.0068	0.0009	0.0009	0.0006	0.16	0.23721	T	0.425	0.92824	T	0.003	0.11197	B	0.002	0.06944	B	0.703756	0.10072	N	0.876699	0.998675	0.51612	D	1.59	0.40313	L	-1.92	0.85173	D	-0.87	0.26639	N	0.169	0.17966	-0.5613	0.66354	T	0.384	0.73966	T	10	0.031133354	0.01245	T	0.022796	0.45720	T	0.316	0.63799	0.092	0.01108	0.841943260456	0.84042	0.07321851081520586	0.07258	.	.	0.410471796989	0.26522	T	0.279066	0.65174	T	-0.286055	0.10034	T	-0.234116	0.51373	T	0.00678472511881113	0.00076	T	0.643236	0.29028	T	0.032249473	0.03216	0.04116448	0.04617	0.038520277	0.05146	0.049310256	0.07507	-3.545	0.22662	T	0.09027583960300532	0.05605	0.079	0.09772	B	.;.;.;.	.;.;.;.	0.944175	0.13202	9.701	0.98176351431738729	0.38907	0.73602	0.36002	D	AEFBCI	0.155883	0.28115	N	-0.495809778911639	0.22217	1.184772	-0.496778031112651	0.22242	1.20716	0.985806220003635	0.30952	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.27	-0.723	0.10617	-0.266000	0.08660	-0.416000	0.09315	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.4342:0.0:0.4134:0.1524	4.968	0.13447	903	0.23940	.;.;.;.	.	.	.	.	.	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	1	0	0.04762	5489.11	34	chr2	47798646	.	A	C	5489.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.234e+00;DP=1232;ExcessHet=0.1072;FS=1.725;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=0.744;SOR=0.572	GT:AD:DP:GQ:PL	0/1:120,116:236:99:2796,0,3106	19	0	2	0
chr2	55598923	55598923	T	G	exonic	PPP4R3B	.	nonsynonymous SNV	PPP4R3B:NM_001122964:exon4:c.A414C:p.E138D	.	.	436	1067	19	0	0	19	0.0088249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.864	P	0.515	P	0.000	D	1.000	D	1.75	L	0.91	T	-1.033	T	0.116	T	0.646	2.596	14.64	4.7	1.044	3.215	8.111	0.120	0.00890701082331	0.0010	0.000599042	0.0013	0.0003	0.0003	0	0.0011	0.0016	0	0.0026	0.0012678	196	154602	rs142053846	0.0014	0.0014	0.0013	0.0016	0.0116	0.0014	0.0014	0.0094	0.0086	0.0003	0.0004	0.0005	2.519e-05	0.0006	0.0116	0.0014	0.0013	0.0036	0.0010	0.0010	0.0010	0.0010	0.0031	0.0009	0.0008	0.0019	0.0015	0.0005	0	0.0006	0.0003	0	0.0008	0.0068	0.0014	0.0005	0.0031	.	.	.	0.074	0.43721	T	0.254	0.47514	B	0.139	0.48040	B	0.000000	0.84330	D	0.045266	0.999995	0.58761	D	1.565	0.39561	L	.	.	.	.	.	.	0.755	0.79406	-1.0332	0.19427	T	0.116	0.40964	T	10	0.01495111	0.00314	T	0.008907	0.23487	T	.	.	0.294	0.25720	0.0675242888579	0.06100	0.37469004499905845	0.37383	.	.	0.774838447571	0.78149	T	0.346464	0.71472	T	-0.223585	0.17507	T	-0.0966774	0.63655	T	0.0209089633878334	0.00792	T	0.968503	0.88585	D	0.28782153	0.51789	0.23290421	0.48465	0.28782153	0.51789	0.23290421	0.48464	-6.093	0.48952	T	.	.	0.115	0.31857	B	.;.;.	.;.;.	4.427123	0.68622	25.3	0.99318157389194317	0.59279	0.94854	0.62560	D	AEFBI	0.451938	0.50571	N	0.07798259455413	0.45437	2.800244	0.178652505925156	0.48679	3.080571	0.0323152907130871	0.14049	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.85	4.7	0.58776	3.231000	0.50995	5.117000	0.47558	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.2141:0.0:0.7859	8.111	0.30076	333	0.86326	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2903.11	34	chr2	55598923	.	T	G	2903.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.707;DP=853;ExcessHet=0.1072;FS=3.339;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.36;ReadPosRankSum=0.494;SOR=0.947	GT:AD:DP:GQ:PL	0/1:49,58:107:99:1597,0,1193	19	0	2	0
chr2	73385912	73385912	-	GGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.44_45insGGA:p.E28_A29insE	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/2:0,26,18,0,0,0:44:99:1741,736,655,1021,0,1074,1756,739,1079,1803,1756,739,1079,1803,1803,1756,739,1079,1803,1803,1803	0	4	5	0
chr2	73385907	73385912	GGAGGA	-	exonic	ALMS1	.	nonframeshift deletion	ALMS1:NM_001378454:exon1:c.39_44del:p.E27_E28del	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/2:0,26,18,0,0,0:44:99:1741,736,655,1021,0,1074,1756,739,1079,1803,1756,739,1079,1803,1803,1756,739,1079,1803,1803,1803	0	4	5	0
chr2	73385910	73385912	GGA	-	exonic	ALMS1	.	nonframeshift deletion	ALMS1:NM_001378454:exon1:c.42_44del:p.E28del	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/2:0,26,18,0,0,0:44:99:1741,736,655,1021,0,1074,1756,739,1079,1803,1756,739,1079,1803,1803,1756,739,1079,1803,1803,1803	0	4	5	0
chr2	73385912	73385912	-	GGAGGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.44_45insGGAGGA:p.E28_A29insEE	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/2:0,26,18,0,0,0:44:99:1741,736,655,1021,0,1074,1756,739,1079,1803,1756,739,1079,1803,1803,1756,739,1079,1803,1803,1803	0	4	5	0
chr2	74880489	74880489	G	A	exonic	HK2	.	nonsynonymous SNV	HK2:NM_000189:exon10:c.G1490A:p.R497Q	.	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.914	P	0.254	B	0.064	N	0.833	D	1.75	L	-4.81	D	0.572	D	0.842	D	0.625	2.628	14.75	0.948	0.054	0.249	8.016	0.644	0.067500261838	0.0006	0.000599042	0.0004	9.733e-05	0.0010	0.0001	0	0.0005	0.0011	6.07e-05	0.0004334	67	154602	rs145124653	0.0004	0.0004	0.0004	0.0005	0.0047	0.0004	0.0004	0.0033	0.0028	8.961e-05	0.0017	0	7.557e-05	1.872e-05	0.0047	0.0004	0.0008	0.0002	0.0010	0.0010	0.0006	0.0013	0.0058	0.0008	0.0008	0.0048	0.0045	7.218e-05	0	0.0058	0	0.0004	0	0.0068	0.0007	0.0009	0.0006	0.148	0.25154	T	0.344	0.20293	T	0.914	0.50529	P	0.254	0.39164	B	0.064231	0.21967	N	0.471570	0.833207	0.34950	D	1.355	0.33814	L	-4.81	0.98183	D	-1.38	0.35399	N	0.601	0.69562	0.572	0.91535	D	0.842	0.94736	D	10	0.037165135	0.02055	T	0.068	0.70184	D	0.644	0.86485	.	.	0.901481142098	0.90050	0.2959695514716237	0.29509	0.477027003376	0.46822	0.228934794664	0.01890	T	0.451168	0.79200	T	-0.146906	0.28798	T	0.00893949	0.70914	D	0.0240572653782406	0.01152	T	0.840516	0.51562	T	0.09092838	0.21293	0.089599505	0.20960	0.09092838	0.21293	0.089599505	0.20960	-5.933	0.45716	T	.	.	0.085	0.13221	B	.;.	.;.	2.390499	0.30700	18.52	0.9936598019286732	0.61240	0.36220	0.25483	N	AEFBCI	0.223826	0.34814	N	-0.389745419070266	0.25834	1.405318	-0.456308927691798	0.23369	1.274108	0.997446584822794	0.35625	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.08	0.948	0.18685	-0.202000	0.09453	1.006000	0.23296	0.676000	0.76740	0.000000	0.06391	0.020000	0.20764	0.975000	0.56047	0.3937:0.0:0.6063:0.0	8.016	0.29541	236	0.90801	Hexokinase, N-terminal;Hexokinase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1786.98	41	chr2	74880489	.	G	A	1786.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=846;ExcessHet=0.0000;FS=3.382;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.91;MQRankSum=1.14;QD=15.27;ReadPosRankSum=-1.100e-01;SOR=0.448	GT:AD:DP:GQ:PL	0/1:52,65:117:99:1801,0,1224	20	0	1	0
chr2	85326932	85326932	G	T	exonic	TGOLN2	.	nonsynonymous SNV	TGOLN2:NM_001206841:exon2:c.C800A:p.S267Y	.	.	434	1080	8	0	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.994	D	0.906	P	.	.	1.000	N	1.59	L	2.67	T	-1.075	T	0.040	T	0.191	2.560	14.52	0.869	0.354	-0.580	4.486	0.019	0.00565292153595	0.0032	0.00319489	0.0048	0.0010	0.0057	0	0.0095	0.0062	0.0045	0.0014	0.0042755	661	154602	rs145218072	0.0049	0.0049	0.0050	0.0048	0.0061	0.0048	0.0048	0.0055	0.0053	0.0010	0.0061	0.0042	0	0.0087	0.0059	0.0052	0.0058	0.0018	0.0043	0.0043	0.0037	0.0049	0.0065	0.0040	0.0039	0.0055	0.0051	0.0014	0.0066	0.0065	0.0043	0	0.0110	0.0068	0.0050	0.0066	0.0010	0.002	0.72154	D	0.022	0.59732	D	0.994	0.66517	D	0.906	0.64351	P	.	.	.	.	1	0.08975	N	1.935	0.51832	L	2.65	0.12676	T	-3.48	0.69950	D	0.151	0.28965	-1.0749	0.08369	T	0.040	0.17191	T	9	0.0033238232	0.00057	T	0.005653	0.14621	T	0.019	0.03383	.	.	0.37281450598	0.36888	0.048835434568265536	0.04826	.	.	0.283387959003	0.07970	T	0.184947	0.53777	T	-0.557835	0.00261	T	-0.570062	0.15444	T	0.0397295307880315	0.03642	T	0.594241	0.21993	T	0.1014517	0.23964	0.13045268	0.31346	0.1014517	0.23963	0.13045268	0.31345	-7.26	0.55911	T	.	.	0.242	0.48746	B	.;.;.;.;.	.;.;.;.;.	2.627694	0.34164	19.55	0.9889654910202933	0.48109	0.05494	0.11380	N	ALL	0.067764	0.13336	N	-0.250207697878437	0.31094	1.740208	-0.490339760362394	0.22419	1.21756	0.999999999998003	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	3.86	0.869	0.18233	1.281000	0.32819	5.500000	0.48770	0.665000	0.62972	0.010000	0.18352	0.902000	0.27988	0.060000	0.15972	0.2129:0.0:0.6057:0.1814	4.486	0.11201	894	0.26265	.;.;.;.;.	.	.	.	.	rs145218072	Likely benign	0	0	0	0	0	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	5023.98	35	chr2	85326932	.	G	T	5023.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.705e+00;DP=2554;ExcessHet=0.0000;FS=1.496;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.40;ReadPosRankSum=-6.230e-01;SOR=0.602	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,131:273:99:0|1:85326932_G_T:5038,0,5562:85326932	20	0	1	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S,	.	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	.	.	.	.	.	.	1.000	N	1.32	L	2.56	T	-0.945	T	0.020	T	0.057	1.140	9.645	-5.28	-1.321	0.150	0.771	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.5	31056.74	205	chr2	95855390	.	T	C	31056.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.80;DP=5080;ExcessHet=54.0936;FS=20.631;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.44;MQRankSum=-1.119e+01;QD=6.32;ReadPosRankSum=-6.536e+00;SOR=2.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:203,108:311:99:.:.:2595,0,5657	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	0/1:297,72:369:99:.:.:1055,0,8542	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	0/1:223,204:427:99:4567,0,6175	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	0/1:228,132:360:99:.:.:3361,0,6537	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	0/1:231,109:340:99:.:.:2496,0,6720	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	0/1:100,19:119:99:.:.:354,0,4113	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|1:159,52:211:99:0|1:95859969_A_AT:1677,0,6499:95859969	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|1:161,52:213:99:0|1:95859969_A_AT:1671,0,6543:95859969	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|1:164,49:213:99:0|1:95859969_A_AT:1564,0,6629:95859969	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	0/1:170,49:219:99:1503,0,4179	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|1:169,41:210:99:0|1:95860002_T_A:1213,0,6875:95860002	1	0	20	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E,	.	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.886	P	0.685	P	.	.	1.000	P	1.1	L	2.36	T	-1.031	T	0.037	T	0.093	0.511	6.772	0.608	0.161	0.077	4.768	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	21658.43	153	chr2	95860007	.	A	T	21658.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.16;DP=2998;ExcessHet=43.6797;FS=3.057;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.82;MQRankSum=-8.906e+00;QD=7.38;ReadPosRankSum=-1.059e+00;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,41:209:99:0|1:95860002_T_A:1216,0,6853:95860002	1	0	20	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I,	.	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.0	B	0.0	B	.	.	1.000	P	-1.385	N	2.38	T	-0.937	T	0.010	T	0.175	-3.138	0.001	0.635	0.138	3.039	5.605	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	18382.43	145	chr2	95860020	.	G	A	18382.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.556;DP=2780;ExcessHet=43.6797;FS=4.214;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.76;MQRankSum=-8.652e+00;QD=6.86;ReadPosRankSum=-1.267e+00;SOR=1.096	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,37:195:99:0|1:95860020_G_A:1078,0,6431:95860020	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|1:158,34:192:99:0|1:95860020_G_A:952,0,6440:95860020	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	0/1:135,20:155:99:435,0,3408	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|1:137,28:165:99:0|1:95927222_G_GAT:763,0,5637:95927222	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|1:150,38:188:99:0|1:95927222_G_GAT:1144,0,6152:95927222	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|1:160,53:213:99:0|1:95927222_G_GAT:1744,0,6559:95927222	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|1:179,92:271:99:0|1:95927222_G_GAT:3324,0,7239:95927222	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|1:210,133:343:99:0|1:95927222_G_GAT:4912,0,8353:95927222	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|1:220,137:357:99:0|1:95927222_G_GAT:4969,0,8524:95927222	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|1:144,70:214:99:0|1:95929092_T_C:2434,0,5713:95929092	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|1:157,83:240:99:0|1:95929092_T_C:3013,0,6318:95929092	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|1:164,102:266:99:0|1:95929092_T_C:3789,0,6579:95929092	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|1:166,109:275:99:0|1:95929092_T_C:4077,0,6642:95929092	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|1:168,113:281:99:0|1:95929092_T_C:4212,0,6653:95929092	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|1:140,37:177:99:0|1:97185336_GC_G:1132,0,5742:97185336	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|1:141,37:178:99:0|1:97185336_GC_G:1129,0,5789:97185336	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|1:140,37:177:99:0|1:97185336_GC_G:1132,0,5767:97185336	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|1:145,37:182:99:0|1:97185336_GC_G:1117,0,5973:97185336	3	0	18	0
chr2	97243965	97243965	C	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4427A:p.P1476Q,	.	.	591	842	87	2	0	91	0.0512676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	1.000	N	-1.815	N	2.52	T	-0.941	T	0.006	T	0.101	-1.688	0.012	0.145	0.033	0.804	2.431	0.044	0.000600742623665	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879789998	6.907e-07	6.843e-07	0	1.389e-06	2.324e-05	0	0	.	.	0	2.324e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	0.01938	T	0.828	0.03739	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.445	0.00556	N	2.52	0.14160	T	4.39	0.00039	N	0.233	0.26233	-0.9411	0.42442	T	0.006	0.02093	T	9	0.030890793	0.01219	T	6.01E-4	0.00274	T	0.044	0.11924	.	.	0.0401082797425	0.02173	.	.	.	.	0.80995708704	0.83485	D	0.007683	0.07071	T	-0.355694	0.04379	T	-0.748706	0.03536	T	0.0436866157378679	0.04362	T	0.315568	0.06252	T	0.02105173	0.00688	0.043300506	0.05356	0.02105173	0.00688	0.043300506	0.05356	.	.	.	.	.	0.071	0.03925	B	.;.	.;.	0.290474	0.06670	3.169	0.19759172413942741	0.00681	0.00555	0.02537	N	AEFI	0.011953	0.00118	N	-1.76782903256606	0.00629	0.02711347	-1.6686180707587	0.01283	0.05784733	1.10704589977209E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	0.145	0.14124	1.831000	0.38781	2.064000	0.30409	-0.484000	0.05061	0.987000	0.36337	0.011000	0.20116	0.002000	0.04165	0.4439:0.2817:0.0:0.2744	2.431	0.04199	198	0.92335	.;.	.	.	.	.	.	Uncertain significance	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	0.125	754.31	35	chr2	97243965	.	C	A	754.31	.	AC=5;AF=0.125;AN=40;BaseQRankSum=2.65;DP=1587;ExcessHet=1.2264;FS=21.000;InbreedingCoeff=-0.1429;MLEAC=5;MLEAF=0.125;MQ=39.13;MQRankSum=-3.457e+00;QD=1.01;ReadPosRankSum=-7.390e-01;SOR=2.842	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:172,15:187:92:.:.:92,0,7071	15	0	5	1
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|1:146,18:164:99:0|1:97243981_C_T:316,0,6076:97243981	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|1:141,19:160:99:0|1:97243981_C_T:373,0,5863:97243981	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|1:176,114:290:99:0|1:97513219_T_C:4257,0,7041:97513219	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|1:177,122:299:99:0|1:97513219_T_C:4590,0,7065:97513219	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	0/1:212,153:366:99:.:.:5844,0,8305	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|1:209,160:369:99:0|1:97513253_A_G:6088,0,8254:97513253	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|1:208,160:368:99:0|1:97513253_A_G:6091,0,8232:97513253	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|1:210,182:392:99:0|1:97513268_C_T:7010,0,8270:97513268	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|1:211,186:397:99:0|1:97513268_C_T:7114,0,8300:97513268	0	0	20	1
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C,	.	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	104689.47	413	chr2	97513271	.	T	C	104689.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-5.750e-01;DP=5492;ExcessHet=51.1880;FS=3.187;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.14;MQRankSum=-5.077e+00;QD=19.08;ReadPosRankSum=-6.500e-01;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:211,187:398:99:0|1:97513268_C_T:7136,0,8297:97513268	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|1:209,193:402:99:0|1:97513268_C_T:7242,0,8134:97513268	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	0/1:146,90:236:99:1919,0,3710	0	0	20	1
chr2	102166230	102166230	T	C	exonic	IL1R1	.	nonsynonymous SNV	IL1R1:NM_001320983:exon4:c.T172C:p.Y58H	.	.	424	1078	18	2	0	22	0.010101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.037	B	0.063	B	0.901	N	1.000	N	-0.03	N	2.8	T	-0.938	T	0.013	T	0.149	2.334	13.76	-2.39	-0.314	-0.203	11.584	0.098	0.00665824055646	0.0012	0.000798722	0.0018	9.612e-05	0.0006	0	0.0002	0.0027	0.0011	0.0016	0.0016817	260	154602	rs34889382	0.0015	0.0015	0.0014	0.0015	0.0104	0.0014	0.0014	0.0083	0.0075	0.0004	0.0010	0.0101	0	0.0003	0.0104	0.0013	0.0024	0.0013	0.0015	0.0015	0.0016	0.0013	0.0019	0.0013	0.0012	0.0016	0.0015	0.0002	0	0.0011	0.0153	0	0.0003	0.0102	0.0019	0.0033	0.0008	0.773	0.12187	T	0.591	0.08189	T	0.028	0.20876	B	0.063	0.27082	B	0.901197	0.08619	N	0.957187	0.999999	0.19781	N	0.255	0.09829	N	2.8	0.11082	T	-0.58	0.21003	N	0.211	0.23506	-0.9376	0.42994	T	0.013	0.05081	T	10	0.0037120283	0.00069	T	0.006658	0.17585	T	0.098	0.28162	.	.	0.230578612272	0.22657	0.73700103169836	0.73645	0.338698603847	0.35831	0.344494819641	0.17108	T	0.004703	0.26635	T	-0.619492	0.00111	T	-0.657507	0.08435	T	0.00789218586577742	0.00093	T	0.665033	0.27384	T	0.071108714	0.15718	0.0410441	0.04577	0.071108714	0.15718	0.0410441	0.04576	-5.231	0.39255	T	.	.	0.089	0.17360	B	.;.;.;.;.;.	.;.;.;.;.;.	1.012634	0.13919	10.48	0.90119739370330354	0.19401	0.03407	0.08526	N	ALL	0.076834	0.15466	N	-1.17856681754949	0.05325	0.2424616	-1.12025283461417	0.07313	0.3552734	0.99999998499494	0.74766	0.713056	0.82018	0	0.588066	0.40923	0	0.573888	0.23631	0	0.670209	0.66018	0	.	.	5.75	-2.39	0.06223	-0.021000	0.12445	-0.594000	0.08306	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.980000	0.58198	0.0:0.2245:0.0:0.7755	11.584	0.50164	829	0.39537	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|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	2315.11	33	chr2	102166230	.	T	C	2315.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.25;DP=841;ExcessHet=0.1072;FS=1.867;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=-5.040e-01;SOR=0.878	GT:AD:DP:GQ:PL	0/1:48,47:95:99:1095,0,1207	19	0	2	0
chr2	102175534	102175534	G	A	exonic	IL1R1	.	nonsynonymous SNV	IL1R1:NM_001320983:exon9:c.G760A:p.G254R	.	.	425	1077	18	2	0	22	0.0101103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.999	D	0.964	D	0.720	N	1.000	N	1.995	M	4.41	T	-1.041	T	0.044	T	0.412	2.187	13.27	4.35	1.318	2.228	7.834	0.121	0.0119043415428	0.0012	0.000798722	0.0018	9.61e-05	0.0006	0	0.0002	0.0027	0.0011	0.0016	0.0016623	257	154602	rs34835752	0.0015	0.0015	0.0014	0.0015	0.0102	0.0014	0.0014	0.0081	0.0074	0.0004	0.0010	0.0101	0	0.0003	0.0102	0.0013	0.0024	0.0013	0.0015	0.0015	0.0016	0.0013	0.0018	0.0013	0.0012	0.0016	0.0015	0.0002	0	0.0011	0.0153	0	0.0003	0.0102	0.0018	0.0033	0.0008	0.008	0.58626	D	0.3	0.31125	T	0.999	0.77913	D	0.964	0.71005	D	0.719718	0.09945	N	0.892392	1	0.19989	N	2.13	0.59329	M	3.83	0.04852	T	-2.64	0.63901	D	0.063	0.27197	-1.0414	0.16890	T	0.044	0.18742	T	10	0.004638791	0.00097	T	0.011904	0.29978	T	0.121	0.33580	0.353	0.35246	0.276898752692	0.27294	0.4624507268944144	0.46163	0.498436254075	0.48318	0.338012158871	0.16140	T	0.010983	0.47009	T	-0.479095	0.00748	T	-0.455836	0.27054	T	0.0179106647910053	0.00518	T	0.817618	0.47476	T	0.16080192	0.36047	0.1890055	0.42222	0.16080192	0.36046	0.1890055	0.42221	-4.401	0.29571	T	.	.	0.136	0.29697	B	.;.;.;.;.	.;.;.;.;.	2.258503	0.28859	17.93	0.99228538521057619	0.56151	0.08097	0.14067	N	AEFBI	0.156399	0.28175	N	-0.0838279245298101	0.38100	2.226452	-0.171238933650039	0.32600	1.856322	0.997406078786632	0.35583	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	5.24	4.35	0.51454	1.576000	0.36113	5.900000	0.50875	0.676000	0.76740	0.016000	0.19238	1.000000	0.68203	0.925000	0.46118	0.1109:0.1628:0.7262:0.0	7.834	0.28519	819	0.41190	Toll/interleukin-1 receptor homology (TIR) domain;Toll/interleukin-1 receptor homology (TIR) domain;Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain;Toll/interleukin-1 receptor homology (TIR) domain;Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4334.11	40	chr2	102175534	.	G	A	4334.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.12;DP=975;ExcessHet=0.1072;FS=1.401;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.45;ReadPosRankSum=1.37;SOR=0.807	GT:AD:DP:GQ:PL	0/1:83,76:159:99:2135,0,2013	19	0	2	0
chr2	107871325	107871325	A	C	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon20:c.A3321C:p.K1107N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	0.501	N	2.9	M	0.56	T	-0.444	T	0.321	T	0.658	1.129	9.604	1.12	0.161	0.871	5.479	0.365	0.0121230758103	.	0.00139776	0.0016	0.0003	0.0038	0	0.0009	0.0021	0.0023	0	0.0006531	17	26028	rs200980418	0.0022	0.0022	0.0023	0.0021	0.0047	0.0022	0.0021	0.0042	0.0040	0.0006	0.0047	3.827e-05	0	0.0012	0.0010	0.0025	0.0020	2.321e-05	0.0024	0.0023	0.0022	0.0026	0.0100	0.0022	0.0021	0.0087	0.0082	0.0006	0	0.0100	0	0	0.0014	0	0.0024	0.0026	0	0.012	0.54683	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.500522	0.31729	N	3.385	0.91502	M	0.56	0.54540	T	-3.53	0.68532	D	0.912	0.91391	-0.4441	0.70594	T	0.321	0.68995	T	9	0.071312815	0.10493	T	0.012123	0.30406	T	0.365	0.68495	0.592	0.72123	0.144782658237	0.14088	0.10020606149708827	0.09951	.	.	0.883420944214	0.94417	D	0.22043	0.58372	T	0.0601424	0.59632	T	-0.151386	0.59121	T	0.0999534385549091	0.12352	T	0.829117	0.49388	T	0.28674683	0.51688	0.2920394	0.55229	0.28674683	0.51688	0.2920394	0.55228	-12.143	0.85541	D	.	.	0.533	0.66046	A	.	.	2.961532	0.39439	21.0	0.9977851211767601	0.86519	0.70451	0.34596	D	AEFI	0.291769	0.40281	N	0.145366499915926	0.48592	3.069657	-0.067779498764652	0.36731	2.141357	2.52073302086245E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.33	1.12	0.19700	1.202000	0.31878	2.537000	0.33196	0.333000	0.19617	1.000000	0.71638	1.000000	0.68203	0.289000	0.24236	0.7143:0.0:0.2857:0.0	5.479	0.16004	963	0.08280	Ran binding domain|Ran binding domain|Ran binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	6640.98	246	chr2	107871325	.	A	C	6640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.856e+00;DP=2765;ExcessHet=0.0000;FS=44.074;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.78;MQRankSum=11.09;QD=16.60;ReadPosRankSum=-2.930e-01;SOR=0.147	GT:AD:DP:GQ:PL	0/1:133,267:400:99:6655,0,2923	20	0	1	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	55301.27	201	chr2	108259015	.	G	T,*	55301.27	.	AC=18,12;AF=0.429,0.286;AN=42;BaseQRankSum=2.01;DP=3832;ExcessHet=0.0944;FS=0.000;InbreedingCoeff=0.3000;MLEAC=18,12;MLEAF=0.429,0.286;MQ=60.00;MQRankSum=0.00;QD=15.51;ReadPosRankSum=-1.780e-01;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,123,107:230:99:1|0:108259008_AAAACTTGGTCAGGTGATGTTAT_A:8165,4490,4121,3948,0,4843:108259008	3	5	3	0
chr2	109501505	109501505	A	G	exonic	SH3RF3	.	nonsynonymous SNV	SH3RF3:NM_001099289:exon10:c.A2483G:p.Y828C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.993	D	0.000	U	1.000	D	.	.	1.55	T	-0.787	T	0.189	T	0.865	3.875	19.69	4.93	1.968	7.072	14.876	0.399	0.0448233817934	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1167363021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.006	0.70582	D	1.0	0.90584	D	0.993	0.81110	D	0.000003	0.62929	U	0.000000	1	0.81001	D	.	.	.	1.55	0.29866	T	-5.79	0.88065	D	0.794	0.79022	-0.7873	0.55886	T	0.189	0.54034	T	9	0.8073915	0.80062	D	0.044823	0.61680	D	0.399	0.71321	0.593	0.72247	0.331200485591	0.32731	0.9315179951753456	0.93130	0.846876937887	0.68356	0.766590237617	0.76913	T	0.106786	0.41843	T	0.196291	0.73545	D	0.0441823	0.73201	D	0.993552730830866	0.84398	D	0.928907	0.73860	D	0.48717907	0.66334	0.48156622	0.69979	0.48717907	0.66335	0.48156622	0.69980	-10.757	0.78308	D	.	.	0.502	0.64668	A	.	.	5.161098	0.86477	28.9	0.99713715671665271	0.81493	0.95923	0.66739	D	AEFBI	0.847090	0.76395	D	1.00408626535327	0.95868	14.05062	0.834261408991944	0.92065	11.21665	0.999502002093575	0.40062	0.706298	0.61202	0	0.588066	0.40923	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.93	4.93	0.64394	7.313000	0.78289	10.983000	0.84618	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.848000	0.40082	1.0:0.0:0.0:0.0	14.876	0.70131	462	0.78611	SH3 domain|SH3 domain|SH3RF1/SH3RF3, fourth SH3 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	1351.98	33	chr2	109501505	.	A	G	1351.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=799;ExcessHet=0.0000;FS=1.706;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=-2.560e-01;SOR=0.473	GT:AD:DP:GQ:PL	0/1:53,53:106:99:1366,0,1376	20	0	1	0
chr2	113075332	113075332	C	T	exonic	IL1F10	.	nonsynonymous SNV	IL1F10:NM_032556:exon4:c.C427T:p.R143C	.	.	425	1090	7	0	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.007	B	0.003	B	0.651	N	1.000	N	1.1	L	2.32	T	-0.995	T	0.028	T	0.191	0.015	4.093	-0.547	-0.024	-0.240	4.898	0.019	0.00818440657801	7.7e-05	0.00179712	0.0006	0	0.0003	0.0001	0	9.184e-05	0	0.0042	0.000511	79	154602	rs140273950	0.0003	0.0003	0.0002	0.0004	0.0039	0.0003	0.0003	0.0036	0.0034	3.037e-05	6.963e-05	0	2.558e-05	0	0.0009	4.744e-05	0.0004	0.0039	0.0002	0.0002	0.0002	0.0002	0.0056	0.0002	0.0001	0.0039	0.0034	0	0	0	0	0	0	0	7.349e-05	0	0.0056	0.071	0.35165	T	0.18	0.29442	T	0.001	0.07471	B	0.002	0.06944	B	0.650705	0.10516	N	0.848252	0.999992	0.08975	N	1.83	0.48079	L	2.32	0.16640	T	-0.05	0.07736	N	0.13	0.12484	-0.9951	0.31272	T	0.028	0.11971	T	10	0.0076808333	0.00175	T	0.008184	0.21674	T	0.019	0.03383	.	.	0.15556083564	0.15200	0.28141862201355494	0.28054	0.0407061659349	0.04366	0.228285059333	0.01843	T	0.008417	0.07732	T	-0.622601	0.00106	T	-0.668573	0.07700	T	0.0267117909191966	0.01504	T	0.719828	0.33277	T	0.14368689	0.33013	0.07986706	0.18017	0.14368689	0.33013	0.07986706	0.18016	-4.686	0.33234	T	.	.	0.086	0.10835	B	.;.	.;.	1.194654	0.15865	12.15	0.78493481488108896	0.12325	0.03389	0.08498	N	AEFDBI	0.067130	0.13181	N	-1.09920473490232	0.06659	0.3071341	-1.13524584741847	0.07036	0.3407724	0.755611638962667	0.23429	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.87	-0.547	0.11244	-0.517000	0.06360	-2.698000	0.03455	-0.216000	0.08207	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.1377:0.5296:0.0:0.3327	4.898	0.13116	363	0.84772	.;.	.	.	.	.	.	Uncertain significance	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	1995.98	34	chr2	113075332	.	C	T	1995.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.27;DP=864;ExcessHet=0.0000;FS=1.297;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=1.93;SOR=0.568	GT:AD:DP:GQ:PL	0/1:73,74:147:99:2010,0,1782	20	0	1	0
chr2	119248162	119248162	C	A	exonic	STEAP3	.	nonsynonymous SNV	STEAP3:NM_001008410:exon3:c.C976A:p.R326S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.747	P	0.502	P	0.000	D	1.000	D	2.41	M	-2.85	D	0.283	D	0.714	D	0.803	2.528	14.41	2.75	0.524	1.100	10.060	0.770	0.0968453786746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.50132	D	0.01	0.67890	D	0.747	0.43174	P	0.502	0.47702	P	0.000211	0.47681	D	0.129690	0.995604	0.58761	D	2.75	0.80375	M	-2.85	0.91363	D	-5.11	0.83092	D	0.342	0.40765	0.283	0.87289	D	0.714	0.90174	D	9	0.5526942	0.64344	D	0.096845	0.76673	D	0.770	0.92253	0.779	0.90388	0.886352133239	0.88523	0.7938908964455941	0.79342	0.196285667944	0.21984	0.324342727661	0.14079	T	0.826052	0.95798	D	0.254078	0.78982	D	0.127189	0.78709	D	0.985827028751373	0.76706	D	0.865913	0.56692	D	0.42308262	0.62296	0.22549997	0.47496	0.42308262	0.62297	0.22549997	0.47495	-11.982	0.84763	D	.	.	0.578	0.74261	P	.;.;.;.	.;.;.;.	1.532348	0.19659	14.37	0.99546726993049461	0.70898	0.85483	0.44620	D	AEFDGBI	0.420237	0.48714	N	-0.118690096606242	0.36579	2.116266	-0.146655930252548	0.33537	1.91942	0.999981859381866	0.51787	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.6	2.75	0.31439	1.729000	0.37737	0.269000	0.16635	-0.217000	0.08171	1.000000	0.71638	0.980000	0.30356	0.005000	0.06747	0.1498:0.6909:0.1593:0.0	10.060	0.41441	940	0.13648	.;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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1086.98	39	chr2	119248162	.	C	A	1086.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.23;DP=804;ExcessHet=0.0000;FS=5.032;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.22;ReadPosRankSum=1.27;SOR=1.367	GT:AD:DP:GQ:PL	0/1:29,38:67:99:1101,0,671	20	0	1	0
chr2	127764615	127764615	T	C	exonic	WDR33	.	nonsynonymous SNV	WDR33:NM_001006622:exon6:c.A839G:p.Y280C,	.	.	436	1055	29	2	0	33	0.015399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.993	D	.	.	1.000	N	.	.	1.06	T	-0.629	T	0.205	T	0.354	2.869	15.56	5.7	2.179	3.930	14.549	0.098	.	0.0051	0.00299521	0.0065	0.0015	0.0140	0	0.0017	0.0102	0.0037	0.0045	0.0031047	480	154602	rs62621432	0.0066	0.0065	0.0066	0.0066	0.0149	0.0065	0.0065	0.0124	0.0114	0.0015	0.0059	0.0047	0	0.0022	0.0149	0.0074	0.0063	0.0039	0.0051	0.0051	0.0054	0.0047	0.0076	0.0048	0.0047	0.0071	0.0069	0.0012	0	0.0076	0.0087	0	0.0011	0.0238	0.0076	0.0076	0.0046	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	.	.	.	.	1	0.81001	D	.	.	.	1.06	0.39781	T	-1.38	0.34198	N	0.599	0.61764	-0.6292	0.63605	T	0.205	0.56293	T	8	0.00841099	0.00191	T	.	.	.	0.098	0.28162	.	.	0.165150595986	0.16160	.	.	.	.	.	.	.	.	.	.	-0.391012	0.02650	T	-0.328747	0.41609	T	0.0715279357274032	0.08864	T	0.450355	0.12714	T	.	.	.	.	.	.	.	.	-3.362	0.14550	T	.	.	0.108	0.20469	B	.	.	2.362505	0.30306	18.40	0.99746070043336688	0.83852	0.94541	0.61500	D	AEFBI	0.626769	0.60947	D	0.636090970056344	0.75470	6.311802	0.640669472655033	0.77917	6.772694	0.999993581770831	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	3.203000	0.50777	2.942000	0.35671	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.549	0.67639	912	0.21483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1517.98	38	chr2	127764615	.	T	C	1517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.19;DP=844;ExcessHet=0.0000;FS=3.910;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.92;ReadPosRankSum=0.067;SOR=0.629	GT:AD:DP:GQ:PL	0/1:94,59:153:99:1532,0,2608	20	0	1	0
chr2	130509040	130509040	A	G	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon1:c.T196C:p.C66R	.	.	438	1014	22	0	48	70	0.0107317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	1.32	L	-0.97	T	-0.882	T	0.180	T	0.067	-3.575	0.001	-0.218	-2.770	-2.508	.	0.078	.	.	0.00798722	0.0003	0.0004	0	0	0	0.0006	0	0.0001	0.0015368	40	26028	rs28624496	0.0004	0.0039	0.0004	0.0004	0.0014	0.0004	0.0004	0.0006	0.0005	9.494e-05	0.0004	0.0016	0.0002	0	0.0014	0.0004	0.0008	0.0002	0.0003	0.0083	0.0002	0.0003	0.0009	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0002	0	0	0.0001	0	0.0004	0	0.0009	1.0	0.00964	T	0.895	0.03863	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.11	0.08516	N	-0.97	0.75670	T	-0.07	0.08033	N	0.04	0.03175	-0.8817	0.49625	T	0.180	0.52613	T	6	0.005124539	0.00111	T	.	.	.	0.078	0.22779	.	.	0.188950314367	0.18478	0.0529668963886371	0.05238	.	.	0.501408100128	0.39024	T	0.011428	0.10197	T	-0.42832	0.01517	T	-0.61636	0.11473	T	0.0247650453648866	0.01242	T	0.30147	0.06003	T	0.08477733	0.19637	0.17651471	0.40191	0.08477733	0.19636	0.17651471	0.40190	-6.193	0.47866	T	.	.	0.348	0.56462	A	.;.;.	.;.;.	-0.512607	0.01826	0.145	0.10100012595628233	0.00119	0.00006	0.00120	N	AEFI	0.011642	0.00107	N	-1.8558285140909	0.00423	0.01816932	-2.06035745378489	0.00227	0.01001295	2.42689208294814E-4	0.06141	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.109	-0.218	0.12495	-1.799000	0.01842	.	.	-2.355000	0.00307	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	976	0.04745	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	103.98	39	chr2	130509040	.	A	G	103.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=1754;ExcessHet=0.0000;FS=15.257;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.87;MQRankSum=-9.148e+00;QD=0.30;ReadPosRankSum=-6.071e+00;SOR=1.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:316,28:344:99:1|0:130508957_C_A:118,0,12768:130508957	20	0	1	0
chr2	134986956	134986956	A	C	exonic	MAP3K19	.	nonsynonymous SNV	MAP3K19:NM_001018044:exon5:c.T1577G:p.L526R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.962	D	0.021	N	1.000	N	1.445	L	1.56	T	-0.529	T	0.401	T	0.836	2.365	13.87	4.67	2.210	1.572	2.585	0.256	0.0797731881974	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1472049278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.574e-06	6.569e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.001	0.83351	D	0.826	0.49025	P	0.292	0.47260	B	0.021082	0.26903	N	0.179749	1	0.19072	N	2.485	0.72352	M	-0.81	0.74477	T	-1.88	0.52451	N	0.561	0.75559	-0.5293	0.67568	T	0.401	0.75238	T	10	0.24826217	0.42121	T	0.079773	0.73310	D	0.256	0.56694	0.233	0.16155	0.877672388166	0.87648	0.49253133454296266	0.49174	0.416335992142	0.42276	0.297835707664	0.10080	T	0.003329	0.02738	T	0.229297	0.76656	D	0.0915931	0.76353	D	0.970977962017059	0.69145	D	0.773323	0.41422	T	0.38979065	0.60016	0.39115608	0.63893	0.38979065	0.60017	0.39115608	0.63893	-3.584	0.19171	T	.	.	0.102	0.36174	B	.;.;.;.;.	.;.;.;.;.	2.420934	0.31130	18.65	0.99659075713685408	0.77820	0.59724	0.30995	D	AEFBI	0.219802	0.34464	N	0.198408868986846	0.51123	3.296067	0.181290945393516	0.48822	3.093085	0.0122114367291128	0.12295	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.81	4.67	0.58089	1.577000	0.36124	2.459000	0.32846	0.756000	0.94297	0.897000	0.31356	0.852000	0.27401	0.935000	0.47363	0.6025:0.0:0.2:0.1975	2.585	0.04535	897	0.25382	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2652.98	36	chr2	134986956	.	A	C	2652.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.940e-01;DP=941;ExcessHet=0.0000;FS=4.233;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=0.852;SOR=0.466	GT:AD:DP:GQ:PL	0/1:83,100:183:99:2667,0,2196	20	0	1	0
chr2	134987734	134987734	A	G	exonic	MAP3K19	.	nonsynonymous SNV	MAP3K19:NM_001018044:exon5:c.T799C:p.Y267H	.	.	427	1047	47	1	0	49	0.0228651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.004	B	0.004	B	0.634	N	1.000	N	0.69	N	1.94	T	-1.039	T	0.104	T	0.119	-0.850	0.549	-0.821	-0.036	-0.437	2.434	0.019	.	0.0028	0.00998403	0.0087	0.0006	0.0037	0	0.0012	0.0045	0.0144	0.0416	0.0080594	1246	154602	rs140022497	0.0057	0.0057	0.0044	0.0071	0.0431	0.0056	0.0056	0.0420	0.0415	0.0006	0.0039	0.0036	7.559e-05	0.0011	0.0232	0.0034	0.0063	0.0431	0.0035	0.0035	0.0033	0.0037	0.0327	0.0033	0.0032	0.0286	0.0270	0.0007	0.0011	0.0036	0.0035	0.0006	0.0017	0.0068	0.0035	0.0066	0.0327	0.286	0.17069	T	0.431	0.14679	T	0.003	0.12183	B	0.002	0.10090	B	0.634177	0.05830	N	1.238580	1	0.08975	N	1.445	0.36358	L	-0.42	0.69536	T	-0.97	0.25770	N	0.077	0.05162	-1.0393	0.17526	T	0.104	0.38144	T	10	0.0024988353	0.00038	T	.	.	.	0.019	0.03383	.	.	0.511735687887	0.50815	0.050829714466138445	0.05024	0.14687753787	0.16573	0.226953357458	0.01750	T	0.002246	0.01642	T	-0.573549	0.00211	T	-0.565224	0.15890	T	0.000890545815876997	0.00008	T	0.509849	0.16238	T	0.040088873	0.05657	0.03199676	0.01869	0.040088873	0.05657	0.03199676	0.01869	-3.157	0.13126	T	.	.	0.090	0.24498	B	.;.;.;.	.;.;.;.	-0.279728	0.02708	0.354	0.4493988042106678	0.03491	0.05265	0.11104	N	AEFBI	0.103133	0.20671	N	-1.21234015646499	0.04819	0.2183486	-1.23364004326654	0.05378	0.2560778	6.0288634170171E-4	0.07437	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.87	-0.821	0.10276	-0.684000	0.05275	0.377000	0.17739	-0.587000	0.04669	0.000000	0.06391	0.000000	0.08366	0.419000	0.27206	0.2463:0.4496:0.1853:0.1188	2.434	0.04205	897	0.25382	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4749.11	125	chr2	134987734	.	A	G	4749.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.90;DP=1229;ExcessHet=0.1072;FS=0.828;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=0.686;SOR=0.634	GT:AD:DP:GQ:PL	0/1:79,102:181:99:2771,0,2108	19	0	2	0
chr2	140334515	140334515	T	G	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon79:c.A12161C:p.E4054A,	.	.	432	1074	14	2	0	18	0.00831025	.	.	732776	not_provided|LRP1B-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.53	T	0.76	P	0.484	P	0.000	D	0.983	D	0.805	L	-3.68	D	-0.904	T	0.127	T	0.513	3.603	18.34	6.08	2.333	5.776	12.491	0.206	0.0422532623378	0.0045	0.00219649	0.0035	0.0020	0.0022	0.0001	0.0011	0.0048	0.0035	0.0024	0.0034993	541	154602	rs79879036	0.0047	0.0048	0.0048	0.0047	0.0149	0.0046	0.0046	0.0124	0.0114	0.0019	0.0025	0.0151	0.0005	0.0010	0.0149	0.0051	0.0055	0.0024	0.0037	0.0037	0.0037	0.0037	0.0060	0.0035	0.0034	0.0050	0.0047	0.0017	0.0055	0.0060	0.0153	0.0004	0.0011	0.0068	0.0045	0.0057	0.0027	0.736	0.03741	T	0.224	0.25591	T	0.76	0.43524	P	0.484	0.47189	P	0.000008	0.62929	D	0.062767	0.983277	0.39994	D	0.695	0.17993	N	-3.68	0.95282	D	-0.33	0.12472	N	0.578	0.59986	-0.9041	0.47550	T	0.127	0.43442	T	10	0.009902418	0.00222	T	0.042253	0.60367	D	0.465	0.76089	.	.	0.268702046668	0.26493	0.774075906437719	0.77357	0.507590868077	0.48939	0.605115115643	0.53626	T	0.287376	0.66017	T	-0.187374	0.22644	T	-0.040421	0.67673	D	0.0300023271018627	0.01990	T	0.781022	0.41604	T	0.07963886	0.18206	0.06470844	0.13009	0.07963886	0.18205	0.06470844	0.13008	-9.669	0.71907	D	.	.	0.412	0.60259	A	.	.	3.469678	0.48398	22.6	0.98221350340564839	0.39307	0.96639	0.70156	D	AEFI	0.691520	0.65149	D	0.295540001995611	0.55922	3.756348	0.42177134061413	0.62922	4.51631	0.411530896176104	0.20216	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.08	6.08	0.98982	5.757000	0.68422	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:0.1392:0.8608	12.491	0.55242	918	0.19598	.	.	.	.	.	.	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	1981.98	33	chr2	140334515	.	T	G	1981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.080e-01;DP=855;ExcessHet=0.0000;FS=2.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=1.22;SOR=0.681	GT:AD:DP:GQ:PL	0/1:86,80:166:99:1996,0,2232	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	0/1:17,21,0,4:42:99:377,0,360,474,409,943,396,294,873,927	1	6	10	0
chr2	151379533	151379533	-	A	exonic	TNFAIP6	.	nonframeshift insertion	TNFAIP6:NM_007115:exon6:c.834dupA:p.X278delinsX,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	0/1:17,21,0,4:42:99:377,0,360,474,409,943,396,294,873,927	1	6	10	0
chr2	151494186	151494186	T	C	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon141:c.A18950G:p.K6317R	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	YES	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.999	D	0.997	D	0.000	D	1.000	D	2.145	M	0.24	T	-0.380	T	0.371	T	0.487	2.080	12.91	5.96	2.270	3.430	16.095	0.165	0.00989549436541	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1053712292	1.374e-06	2.052e-06	1.365e-06	1.382e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.019e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.28772	T	0.033	0.53072	D	0.735	0.42814	P	0.519	0.48163	P	0.000008	0.62929	D	0.000000	0.999251	0.51612	D	1.34	0.33385	L	0.24	0.59583	T	-1.63	0.39119	N	0.537	0.59053	-0.3799	0.72654	T	0.371	0.73008	T	10	0.343791	0.51384	T	0.009895	0.25766	T	0.165	0.42395	0.614	0.74768	0.618333858498	0.61524	0.3707436521108393	0.36988	0.318860891335	0.34104	0.692018032074	0.65996	T	0.019383	0.30014	T	-0.0321989	0.47096	T	-0.284028	0.46390	T	0.815143525600433	0.47416	D	0.886311	0.61284	D	0.22878627	0.45604	0.23727272	0.49020	0.22878627	0.45604	0.23727272	0.49019	-7.601	0.61825	D	.	.	0.105	0.19357	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.924342	0.57317	23.8	0.99491665130982765	0.67460	0.94642	0.61835	D	AEFGBI	0.316654	0.42088	N	0.393469512507884	0.61067	4.303049	0.468071954922695	0.65887	4.88073	0.99518634920807	0.33994	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.96	5.96	0.96695	2.748000	0.47160	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.095	0.80926	800	0.44535	.;.;.;.;.;.;.;.	.	.	.	.	.	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	1152.98	34	chr2	151494186	.	T	C	1152.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.400e-02;DP=813;ExcessHet=0.0000;FS=1.551;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=-6.200e-02;SOR=0.885	GT:AD:DP:GQ:PL	0/1:60,48:108:99:1167,0,1546	20	0	1	0
chr2	151680729	151680729	C	T	splicing	NEB	NM_001164507:exon30:c.3042+1G>A;NM_001271208:exon30:c.3042+1G>A;NM_004543:exon30:c.3042+1G>A;NM_001164508:exon30:c.3042+1G>A	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	YES	.	.	.	.	.	.	.	1.0000	0.938	939850	Nemaline_myopathy_2	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.502	24.2	5.82	2.764	6.476	18.870	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.936609	0.94117	33	0.99349119721063961	0.60493	0.97623	0.75973	D	AEFBI	.	.	.	1.19148709426811	0.99469	22.96786	1.05788045534202	0.99467	22.95182	0.999998626380482	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.989765	0.98485	5.82	5.82	0.92740	5.023000	0.63858	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.870	0.92282	863	0.32847	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	547.01	131	chr2	151680729	.	C	T	547.01	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.151e+00;DP=1823;ExcessHet=0.6776;FS=116.428;InbreedingCoeff=-0.1070;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=1.04;ReadPosRankSum=1.23;SOR=10.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:118,24:145:95:.:.:95,0,2631	17	0	4	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	0/1:149,60:220:23:23,0,3095	3	0	15	3
chr2	162504451	162504451	C	T	exonic	KCNH7	.	nonsynonymous SNV	KCNH7:NM_173162:exon5:c.G1099A:p.V367M	.	.	428	1084	10	0	0	10	0.00459137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.993	D	0.000	D	1.000	D	2.43	M	-5.39	D	1.100	D	0.975	D	0.698	4.285	22.4	5.8	2.741	7.796	20.072	0.755	0.310404213189	0.0025	0.000798722	0.0029	0.0003	0.0042	0	0.0005	0.0032	0.0033	0.0053	0.002652	410	154602	rs140283570	0.0019	0.0019	0.0018	0.0021	0.0106	0.0019	0.0018	0.0085	0.0077	0.0003	0.0050	0.0150	5.044e-05	0.0003	0.0106	0.0013	0.0033	0.0055	0.0020	0.0020	0.0021	0.0019	0.0052	0.0018	0.0017	0.0043	0.0040	0.0004	0	0.0052	0.0150	0.0006	9.43e-05	0.0068	0.0017	0.0033	0.0046	0.034	0.44029	D	0.018	0.59732	D	0.895	0.90584	P	0.472	0.81110	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.31	0.66127	M	-5.39	0.99055	D	-2.55	0.55501	D	0.883	0.88137	1.100	0.99662	D	0.975	0.99208	D	10	0.012556851	0.00269	T	0.310404	0.91167	D	0.755	0.91626	.	.	0.808555340991	0.80676	0.7405230563885578	0.73997	1.08659659648	0.77305	0.881132364273	0.94112	D	0.209359	0.56955	T	-0.00731405	0.50639	T	0.218084	0.84079	D	0.0353243297365626	0.02863	T	0.982302	0.94220	D	0.32188272	0.54798	0.32474962	0.58396	0.32188272	0.54798	0.32474962	0.58395	-10.229	0.75271	D	.	.	0.987	0.93009	P	.;.;.;.	.;.;.;.	4.107997	0.61310	24.3	0.99835881412586058	0.91714	0.99733	0.99053	D	AEFI	0.941268	0.94431	D	0.74047686141982	0.82283	7.724665	0.734938057270657	0.85029	8.460028	0.999999996881388	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.8	5.8	0.92081	7.905000	0.86479	7.680000	0.65243	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.671000	0.33280	0.0:1.0:0.0:0.0	20.072	0.97725	506	0.75555	.;.;.;.	.	.	.	.	.	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	688.98	36	chr2	162504451	.	C	T	688.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=767;ExcessHet=0.0000;FS=0.963;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.83;ReadPosRankSum=0.236;SOR=0.933	GT:AD:DP:GQ:PL	0/1:51,27:78:99:703,0,1395	20	0	1	0
chr2	172491072	172491072	G	A	exonic	ITGA6	.	nonsynonymous SNV	ITGA6:NM_000210:exon21:c.G2728A:p.D910N	Epidermolysis bullosa, junctional, with pyloric stenosis, Autosomal recessive	.	1	1494	24	3	0	30	0.00994036	.	.	283701	not_provided|Junctional_epidermolysis_bullosa_with_pyloric_atresia	MedGen:C3661900|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730,Orphanet:79403	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.43	T	0.062	B	0.085	B	0.149	N	1.000	N	1.1	L	0.77	T	-1.046	T	0.073	T	0.066	1.115	9.546	5.4	2.534	1.467	9.590	0.112	0.0101160725306	0.0051	0.00239617	0.0049	0.0014	0.0048	0	0.0024	0.0072	0.0088	0.0010	0.0048318	747	154602	rs61737182	0.0063	0.0066	0.0064	0.0062	0.0079	0.0062	0.0061	0.0070	0.0069	0.0012	0.0058	0.0125	0	0.0033	0.0079	0.0071	0.0064	0.0009	0.0051	0.0051	0.0054	0.0048	0.0075	0.0048	0.0047	0.0069	0.0067	0.0016	0	0.0062	0.0133	0	0.0027	0.0238	0.0075	0.0104	0.0006	0.33	0.18000	T	0.474	0.12107	T	0.034	0.20480	B	0.085	0.29395	B	0.149179	0.18026	N	0.611073	1	0.08975	N	1.59	0.40313	L	0.77	0.49642	T	-0.37	0.17210	N	0.137	0.13484	-1.0457	0.15621	T	0.073	0.29515	T	10	0.0038841367	0.00074	T	0.010116	0.26280	T	0.112	0.31546	.	.	0.451504584351	0.44773	0.48356225979701	0.48276	0.391427431457	0.40341	0.33512198925	0.15706	T	0.058454	0.30846	T	-0.589559	0.00169	T	-0.611675	0.11849	T	0.00592956864552455	0.00065	T	0.822518	0.52285	T	0.039097063	0.05334	0.044123553	0.05645	0.033754837	0.03656	0.044123553	0.05644	-3.376	0.15490	T	.	.	0.075	0.06803	B	.;.;.;.;.;.	.;.;.;.;.;.	2.629902	0.34197	19.56	0.97738475374301148	0.35665	0.04340	0.09903	N	AEFBI	0.071059	0.14131	N	-0.395247724888842	0.25637	1.393218	-0.279890348411636	0.28761	1.606131	0.999284130369065	0.39007	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	1.499000	0.35279	11.837000	0.97708	0.618000	0.50648	0.036000	0.20778	1.000000	0.68203	0.962000	0.52141	0.1002:0.0:0.8998:0.0	9.590	0.38706	764	0.49969	.;.;Integrin alpha-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	0	0	0	0	0.02381	1164.98	33	chr2	172491072	.	G	A	1164.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.500e-02;DP=805;ExcessHet=0.0000;FS=2.415;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.22;ReadPosRankSum=-6.000e-03;SOR=0.500	GT:AD:DP:GQ:PL	0/1:66,48:114:99:1179,0,1764	20	0	1	0
chr2	178324247	178324247	C	T	exonic	OSBPL6	.	nonsynonymous SNV	OSBPL6:NM_145739:exon2:c.C110T:p.P37L	.	.	430	1056	34	2	0	38	0.0176744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.201	B	0.035	B	0.137	N	0.984	D	0.895	L	1.25	T	-1.089	T	0.061	T	0.269	2.720	15.05	4.97	2.797	1.481	10.481	0.025	.	0.0019	0.00698882	0.0087	0.0007	0.0021	0.0003	0	0.0045	0.0073	0.0305	0.0042884	663	154602	rs34874235	0.0037	0.0038	0.0031	0.0043	0.0243	0.0036	0.0036	0.0235	0.0231	0.0005	0.0012	0.0001	7.729e-05	5.868e-05	0.0097	0.0027	0.0037	0.0243	0.0023	0.0023	0.0022	0.0025	0.0247	0.0021	0.0021	0.0211	0.0197	0.0006	0	0.0012	0.0003	0.0002	0.0003	0	0.0027	0.0028	0.0247	0.022	0.65419	D	0.184	0.47336	T	0.065	0.29693	B	0.032	0.22741	B	0.136896	0.18431	N	0.560099	0.982406	0.40094	D	0	0.06538	N	1.25	0.36512	T	-1.14	0.38734	N	0.302	0.35194	-1.0895	0.05616	T	0.061	0.25635	T	10	0.0038985908	0.00074	T	.	.	.	0.025	0.05312	.	.	0.0675242888579	0.06100	0.2651952141909519	0.26432	0.343719139583	0.36299	0.414854466915	0.27127	T	0.013066	0.11369	T	-0.501483	0.00561	T	-0.474868	0.24994	T	0.00769843631727962	0.00090	T	0.957104	0.83854	D	0.07133131	0.15784	0.062420767	0.12208	0.07133131	0.15783	0.062420767	0.12208	-4.84	0.36655	T	.	.	0.071	0.11172	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.386064	0.46858	22.4	0.99623548177428622	0.75594	0.55822	0.29961	D	AEFDBI	0.084559	0.17137	N	-0.0939410315234078	0.37659	2.194098	0.0889973802018762	0.43994	2.689787	0.998386936897328	0.36869	0.615465	0.37627	0	0.563428	0.19063	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.9	4.97	0.65419	1.533000	0.35645	.	.	0.599000	0.40250	0.891000	0.31220	1.000000	0.68203	0.711000	0.34484	0.2265:0.6504:0.1231:0.0	10.481	0.43878	322	0.86904	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1616.11	35	chr2	178324247	.	C	T	1616.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.384;DP=789;ExcessHet=0.1072;FS=5.610;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=1.70;SOR=1.224	GT:AD:DP:GQ:PL	0/1:34,32:66:99:832,0,882	19	0	2	0
chr2	178652878	178652878	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001267550:exon200:c.C38929T:p.P12977S,	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	.	5	1460	53	4	0	61	0.0204629	.	.	238500	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_cardiomyopathy_1G	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0049	0.00638978	0.0065	0.0014	0.0013	0.0001	0.0011	0.0055	0.0057	0.0225	0.0058925	911	154602	rs150223722	0.0064	0.0064	0.0059	0.0069	0.0232	0.0063	0.0062	0.0224	0.0220	0.0010	0.0020	0.0002	5.043e-05	0.0013	0.0106	0.0061	0.0056	0.0232	0.0039	0.0040	0.0040	0.0039	0.0207	0.0037	0.0036	0.0175	0.0162	0.0010	0	0.0024	0.0003	0	0.0017	0.0034	0.0058	0.0047	0.0207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.31	0.68030	T	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.00516212	0.00112	T	.	.	.	.	.	.	.	0.838613394838	0.83707	.	.	.	.	.	.	.	.	.	.	-0.52601	0.00406	T	-0.510768	0.21237	T	.	.	.	0.728227	0.34274	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.772844	0.22541	15.66	0.56665513275893198	0.05601	0.18245	0.20180	N	AEFBI	0.157657	0.28320	N	.	.	.	.	.	.	0.0286487783079109	0.13843	0.500041	0.20204	0	0.573888	0.26702	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	4.83	3.93	0.44666	0.120000	0.15476	.	.	0.654000	0.53741	0.008000	0.17931	0.009000	0.19889	0.150000	0.20306	0.0:0.1335:0.6663:0.2002	9.634	0.38960	441	0.80015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2366.98	40	chr2	178652878	.	G	A	2366.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.750e-01;DP=870;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=0.593;SOR=0.671	GT:AD:DP:GQ:PL	0/1:74,94:168:99:2381,0,1856	20	0	1	0
chr2	184938548	184938548	T	G	exonic	ZNF804A	.	nonsynonymous SNV	ZNF804A:NM_194250:exon4:c.T3152G:p.V1051G,	.	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.483	P	0.115	B	0.121	N	1.000	D	1.39	L	3.31	T	-0.918	T	0.013	T	0.6	1.533	11.08	4.06	0.786	2.106	4.154	0.144	0.0186065364566	.	.	.	.	.	.	.	.	.	.	.	.	.	rs144826858	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	6.578e-06	6.569e-06	0	1.347e-05	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.169	0.22920	T	0.037	0.51737	D	0.483	0.36807	P	0.115	0.31843	B	0.121294	0.19002	N	0.368860	0.999825	0.49512	D	1.905	0.50856	L	3.31	0.06291	T	-0.92	0.24676	N	0.394	0.43514	-0.9182	0.45797	T	0.013	0.05081	T	10	0.12367481	0.23480	T	0.018607	0.40730	T	0.144	0.38394	0.372	0.38340	0.102598925029	0.09809	0.3900209383070601	0.38917	0.286153503547	0.31018	0.403704255819	0.25584	T	0.015349	0.23270	T	-0.128436	0.31748	T	-0.422266	0.30815	T	0.837853133678436	0.49153	D	0.556544	0.20130	T	0.091678314	0.21488	0.06231783	0.12173	0.091678314	0.21488	0.06231783	0.12173	-3.82	0.21104	T	.	.	0.197	0.41918	B	.;.	.;.	3.099726	0.41772	21.4	0.99135140860300608	0.53383	0.90643	0.51990	D	AEFBI	0.290885	0.40215	N	-0.164115471305822	0.34635	1.97939	-0.0624986929747346	0.36955	2.157332	1.51623897331456E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.09	4.06	0.46572	1.856000	0.39028	4.166000	0.42242	0.609000	0.47794	0.956000	0.33378	1.000000	0.68203	0.978000	0.57271	0.0:0.3906:0.0:0.6094	4.154	0.09716	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	2467.98	107	chr2	184938548	.	T	G	2467.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.62;DP=1664;ExcessHet=0.0000;FS=10.134;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=2.27;SOR=0.732	GT:AD:DP:GQ:PL	0/1:92,83:175:99:2482,0,2530	20	0	1	0
chr2	186504215	186504215	G	A	splicing	ZC3H15	NM_018471:exon6:c.717+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.482	17.82	5.01	2.497	9.756	18.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59e-06	3.296e-05	1.582e-06	1.598e-06	1.463e-05	2.6e-07	1e-07	.	.	0	0	0	0	2.117e-05	0	0	0	1.463e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36496	0.87625	D	0.286463	0.87465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.078213	0.96114	35	0.99490046545528399	0.67403	0.99024	0.90115	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1309.41	47	chr2	186504215	.	G	A,C	1309.41	.	AC=8,9;AF=0.235,0.265;AN=34;BaseQRankSum=1.04;DP=1083;ExcessHet=35.6159;FS=116.098;InbreedingCoeff=-0.7527;MLEAC=9,11;MLEAF=0.265,0.324;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=1.80;SOR=10.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:45,0,16:61:9:.:.:9,134,882,0,747,706	0	0	8	4
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.361	17.33	5.01	2.497	9.756	18.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1309.41	47	chr2	186504215	.	G	A,C	1309.41	.	AC=8,9;AF=0.235,0.265;AN=34;BaseQRankSum=1.04;DP=1083;ExcessHet=35.6159;FS=116.098;InbreedingCoeff=-0.7527;MLEAC=9,11;MLEAF=0.265,0.324;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=1.80;SOR=10.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:45,0,16:61:9:.:.:9,134,882,0,747,706	0	0	8	4
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	0/1:27,36,0:66:99:797,0,554,867,717,1664	15	0	5	0
chr2	190514570	190514570	G	A	exonic	NEMP2	.	nonsynonymous SNV	NEMP2:NM_001142645:exon7:c.C836T:p.S279F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.986	D	0.899	P	.	.	0.999	N	2.14	M	0.85	T	-0.750	T	0.268	T	0.659	2.953	15.84	5.38	2.799	2.942	13.586	0.253	0.0352690654981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.146e-07	6.84e-07	1.41e-06	0	9.268e-07	0	0	.	.	0	0	0	0	0	0	9.268e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.005	0.72224	D	0.986	0.61523	D	0.899	0.63802	P	.	.	.	.	0.99904	0.21681	N	.	.	.	0.85	0.47130	T	-3.21	0.64826	D	0.337	0.37820	-0.7501	0.57930	T	0.268	0.63971	T	9	0.6735402	0.70855	D	0.035269	0.56231	D	0.253	0.56294	0.751	0.88155	0.623338070356	0.62027	0.8483286219411192	0.84793	.	.	0.346449971199	0.17398	T	0.121214	0.44402	T	0.0200298	0.54385	T	-0.209005	0.53790	T	0.926267209356979	0.58845	D	0.806719	0.45571	T	0.19577897	0.41380	0.38257566	0.63241	0.19577897	0.41380	0.38257566	0.63241	-9.678	0.71962	D	.	.	0.764	0.75648	P	.	.	4.168045	0.62646	24.5	0.99788208396917366	0.87396	0.80244	0.39933	D	AEFBI	0.267013	0.38381	N	0.443324499255063	0.63824	4.623925	0.347561740837172	0.58360	4.006164	0.999977392399475	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	5.38	5.38	0.77279	3.159000	0.50430	9.481000	0.80883	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.550000	0.30174	0.0:0.1559:0.8441:0.0	13.586	0.61396	419	0.81524	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2341.98	38	chr2	190514570	.	G	A	2341.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=1006;ExcessHet=0.0000;FS=0.529;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=0.871;SOR=0.641	GT:AD:DP:GQ:PL	0/1:99,92:191:99:2356,0,2463	20	0	1	0
chr2	195897720	195897720	T	C	exonic	DNAH7	.	nonsynonymous SNV	DNAH7:NM_018897:exon29:c.A4594G:p.I1532V,	.	.	489	1028	5	0	0	5	0.00242601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.998	D	0.994	D	0.000	D	1.000	D	2	M	1.9	T	-0.966	T	0.115	T	0.488	4.184	21.7	5.92	2.266	5.125	16.024	0.171	.	.	0.0117812	0.0053	0	0.0003	0.0137	0	0.0003	0.0022	0.0297	0.0046507	719	154602	rs139274808	0.0020	0.0020	0.0013	0.0026	0.0251	0.0019	0.0019	0.0242	0.0238	3.033e-05	2.297e-05	3.87e-05	0.0090	1.879e-05	0.0021	0.0002	0.0035	0.0251	0.0015	0.0015	0.0011	0.0019	0.0284	0.0014	0.0013	0.0245	0.0230	7.38e-05	0	0.0003	0	0.0135	0	0.0034	0.0002	0.0024	0.0284	0.03	0.45393	D	.	.	.	0.998	0.73220	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	1.9	0.23486	T	-0.94	0.25118	N	0.608	0.62526	-0.9657	0.38073	T	0.115	0.40786	T	10	0.0071324706	0.00162	T	.	.	.	0.171	0.43483	.	.	0.489449420884	0.48578	0.32496646133411633	0.32409	0.145879884448	0.16476	0.68594700098	0.65123	T	0.028318	0.20539	T	-0.412568	0.01912	T	-0.354371	0.38702	T	0.0680273783062483	0.08371	T	0.953705	0.82322	D	0.22089803	0.44655	0.20728335	0.44980	0.22089803	0.44655	0.20728335	0.44979	-7.907	0.60435	D	.	.	0.127	0.26978	B	.	.	3.732384	0.53402	23.4	0.99918361825095703	0.98586	0.97077	0.72555	D	AEFBI	0.805554	0.73011	D	0.720277453289721	0.80960	7.412028	0.717982659884083	0.83744	8.102917	0.999922993960766	0.46280	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.92	5.92	0.95557	5.109000	0.64456	5.031000	0.46827	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.024	0.80333	915	0.20917	.	.	.	.	.	rs139274808	Uncertain significance	0	0	0	0	0	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	603.98	41	chr2	195897720	.	T	C	603.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=788;ExcessHet=0.0000;FS=4.786;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.84;ReadPosRankSum=-4.260e-01;SOR=1.286	GT:AD:DP:GQ:PL	0/1:51,26:77:99:618,0,1362	20	0	1	0
chr2	195969966	195969966	C	A	exonic	DNAH7	.	nonsynonymous SNV	DNAH7:NM_018897:exon17:c.G2187T:p.L729F,	.	.	461	1058	3	0	0	3	0.00141576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	1.0	D	1.0	D	0.003	U	1.000	D	2.85	M	1.69	T	-0.844	T	0.160	T	0.546	3.048	16.17	5.35	2.674	0.739	6.072	0.229	0.0181349667968	.	0.00119808	0.0003	0	0.0002	0	0	4.53e-05	0	0.0016	0.0002458	38	154602	rs553164161	0.0002	0.0002	0.0001	0.0002	0.0019	0.0002	0.0001	0.0017	0.0016	0	2.356e-05	0	0	0	0.0010	6.218e-05	0.0002	0.0019	0.0001	0.0001	9e-05	0.0001	0.0023	7.578e-05	6.283e-05	0.0013	0.0010	2.408e-05	0	6.542e-05	0	0	0	0.0034	5.884e-05	0	0.0023	0.003	0.68238	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.003404	0.34985	U	0.000000	0.999985	0.54805	D	3.1	0.87590	M	1.69	0.27032	T	-3.9	0.72932	D	0.741	0.74098	-0.8439	0.52386	T	0.160	0.49480	T	10	0.07075584	0.10338	T	0.018135	0.40103	T	0.229	0.52916	0.392	0.41606	0.528009843598	0.52448	0.5164391035354019	0.51566	0.240823321714	0.26620	0.606749355793	0.53857	T	0.044952	0.26973	T	-0.368921	0.03649	T	-0.327334	0.41764	T	0.359079467483955	0.27373	T	0.80082	0.44648	T	0.29551798	0.52500	0.3354155	0.59356	0.29551798	0.52500	0.3354155	0.59355	-8.945	0.67342	D	.	.	0.822	0.78314	P	.	.	3.586859	0.50598	23.0	0.99821285450165564	0.90414	0.88133	0.47928	D	AEFI	0.297797	0.40728	N	0.648027815192614	0.76240	6.450244	0.594174528546616	0.74518	6.151207	1.44234540259966E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.35	5.35	0.76297	0.761000	0.26154	3.977000	0.40873	0.537000	0.25018	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1788:0.7025:0.0:0.1188	6.072	0.19119	892	0.26670	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1580.98	34	chr2	195969966	.	C	A	1580.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.803e+00;DP=829;ExcessHet=0.0000;FS=0.622;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=-4.000e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/1:72,70:142:99:1595,0,1844	20	0	1	0
chr2	196000850	196000850	T	A	exonic	DNAH7	.	nonsynonymous SNV	DNAH7:NM_018897:exon12:c.A1207T:p.I403F,	.	.	481	1038	3	0	0	3	0.001443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.001	B	0.001	B	0.634	N	1.000	D	2.175	M	2.72	T	-1.098	T	0.072	T	0.488	2.199	13.31	3.08	0.340	1.583	8.221	0.174	0.0108876960318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.385e-06	1.368e-06	1.377e-06	1.393e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.677e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.736	0.49613	T	0.009	0.66756	D	0.001	0.07471	B	0.001	0.04355	B	0.633749	0.10662	N	0.822306	0.998364	0.49637	D	2.535	0.73915	M	1.91	0.23283	T	-1.93	0.59059	N	0.451	0.51761	-1.0981	0.04328	T	0.072	0.29323	T	10	0.2057187	0.36808	T	0.010888	0.27936	T	0.174	0.44019	0.445	0.50302	0.183819452728	0.17975	0.4190143365557646	0.41817	0.0384574760045	0.04094	0.380378752947	0.22310	T	0.014127	0.12084	T	-0.114691	0.33995	T	-0.402522	0.33091	T	0.534706830978394	0.33908	D	0.835216	0.55630	T	0.15669921	0.35349	0.13765408	0.32898	0.15669921	0.35349	0.13765408	0.32897	-5.143	0.38357	T	.	.	0.218	0.44860	B	.;.	.;.	2.044579	0.25992	16.96	0.9536765169841015	0.26774	0.83654	0.42757	D	AEFHCI	0.563877	0.57089	D	-0.170581822401456	0.34363	1.960483	-0.0601837084746139	0.37054	2.164359	1.54429849853999E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.61	3.08	0.34576	1.594000	0.36307	1.450000	0.26598	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1779:0.0:0.8221	8.221	0.30701	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3386.11	40	chr2	196000850	.	T	A	3386.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.37;DP=952;ExcessHet=0.1072;FS=0.965;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=0.351;SOR=0.776	GT:AD:DP:GQ:PL	0/1:76,83:159:99:2141,0,1870	19	0	2	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	0/1:63,31:94:99:282,0,903	0	0	19	2
chr2	199819527	199819527	-	A	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.441dupT:p.*148delinsLNLRSPL*,	.	.	465	530	157	5	365	532	0.136104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	1928.6	30	chr2	199819526	.	TA	T,TAA,TAAA	1928.6	.	AC=4,14,2;AF=0.095,0.333,0.048;AN=42;BaseQRankSum=0.562;DP=865;ExcessHet=26.8223;FS=1.986;InbreedingCoeff=-0.6840;MLEAC=3,15,2;MLEAF=0.071,0.357,0.048;MQ=60.00;MQRankSum=0.00;QD=2.80;ReadPosRankSum=-2.030e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/2:40,2,8,0:52:28:28,113,1033,0,779,844,172,1045,848,1105	2	0	4	0
chr2	199819527	199819527	-	AA	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.441_442insTT:p.*148delinsFKLEVPFMSHTLLMQEEL*,	.	.	465	530	157	5	365	532	0.136104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	1928.6	30	chr2	199819526	.	TA	T,TAA,TAAA	1928.6	.	AC=4,14,2;AF=0.095,0.333,0.048;AN=42;BaseQRankSum=0.562;DP=865;ExcessHet=26.8223;FS=1.986;InbreedingCoeff=-0.6840;MLEAC=3,15,2;MLEAF=0.071,0.357,0.048;MQ=60.00;MQRankSum=0.00;QD=2.80;ReadPosRankSum=-2.030e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/2:40,2,8,0:52:28:28,113,1033,0,779,844,172,1045,848,1105	2	0	4	0
chr2	199925327	199925327	A	G	exonic	C2orf69	.	nonsynonymous SNV	C2orf69:NM_153689:exon2:c.A599G:p.N200S,	.	.	441	1058	22	1	0	24	0.011215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.016	B	0.029	B	0.001	D	0.729	D	0.205	N	.	.	-1.046	T	0.005	T	0.044	0.651	7.491	5.5	2.302	3.552	9.408	0.032	.	0.0046	0.0277556	0.0163	0.0014	0.0036	0.0982	0.0127	0.0061	0.0145	0.0339	0.015058	2328	154602	rs150129946	0.0091	0.0091	0.0084	0.0099	0.0775	0.0090	0.0089	0.0752	0.0743	0.0012	0.0036	0.0052	0.0775	0.0126	0.0061	0.0048	0.0125	0.0360	0.0084	0.0084	0.0071	0.0099	0.0907	0.0080	0.0079	0.0839	0.0812	0.0014	0	0.0061	0.0043	0.0907	0.0145	0.0034	0.0043	0.0109	0.0365	0.36	0.11919	T	0.806	0.03993	T	0.016	0.17332	B	0.029	0.21540	B	0.000849	0.41440	D	0.261542	0.72905	0.33699	D	0.69	0.16971	N	.	.	.	-0.79	0.21860	N	0.028	0.00618	-1.0462	0.15476	T	0.005	0.01761	T	9	0.001547128	0.00018	T	.	.	.	0.032	0.07718	.	.	.	.	0.17443525607362523	0.17362	0.282605507449	0.30711	.	.	.	0.002084	0.01490	T	-0.642711	0.00080	T	-0.618509	0.11302	T	0.00639136410793986	0.00071	T	0.752925	0.37500	T	0.03661274	0.04537	0.04759537	0.06891	0.03661274	0.04537	0.04759537	0.06890	-3.096	0.11250	T	.	.	0.091	0.12985	B	.	.	1.962724	0.24933	16.58	0.95025572698175864	0.26014	0.92795	0.56564	D	AEFBI	0.155834	0.28109	N	-0.28007695657649	0.29918	1.663456	-0.0498607988241431	0.37496	2.196231	0.892599707885436	0.25887	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	2.398000	0.44140	7.121000	0.57595	0.756000	0.94297	0.999000	0.42656	1.000000	0.68203	0.988000	0.63387	0.9219:0.0:0.0781:0.0	9.408	0.37636	640	0.64132	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2817.11	33	chr2	199925327	.	A	G	2817.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.440e-01;DP=856;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=1.03;SOR=0.668	GT:AD:DP:GQ:PL	0/1:56,57:113:99:1472,0,1482	19	0	2	0
chr2	203416920	203416920	C	A	exonic	ABI2	.	nonsynonymous SNV	ABI2:NM_001375752:exon6:c.C689A:p.P230Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.585	M	1.02	T	-0.213	T	0.410	T	0.609	5.396	34	6.03	2.854	7.584	20.567	0.382	0.0317830442011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.033	0.54159	D	0.997	0.90584	D	0.961	0.82059	D	0.000000	0.84330	D	0.094349	1	0.81001	D	.	.	.	0.89	0.45636	T	-4.91	0.84525	D	0.613	0.62950	-0.2131	0.77333	T	0.410	0.75894	T	10	0.6373706	0.68859	D	0.031783	0.53784	D	0.382	0.69946	0.298	0.26362	0.526805192267	0.52328	0.564473779991695	0.56374	0.67219893905	0.59510	0.691882789135	0.65977	T	0.492888	0.81726	T	0.0360772	0.56528	T	-0.185954	0.55967	T	0.996000111103058	0.88484	D	0.883612	0.77652	D	.	.	.	.	.	.	.	.	-7.591	0.58248	D	.	.	0.104	0.44720	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.782852	0.54398	23.5	0.99454119999965596	0.65427	0.99449	0.96169	D	AEFDBI	0.886762	0.81843	D	0.85864621199167	0.89595	10.03655	0.857735840865173	0.93460	12.057	0.999999999999912	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	7.716000	0.83695	5.933000	0.51351	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.567	0.99354	282	0.88846	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	166.98	33	chr2	203416920	.	C	A	166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.603e+00;DP=932;ExcessHet=0.0000;FS=80.557;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.69;ReadPosRankSum=1.51;SOR=6.807	GT:AD:DP:GQ:PL	0/1:209,33:242:99:181,0,5705	20	0	1	0
chr2	219242541	219242541	C	T	exonic	GLB1L	.	nonsynonymous SNV	GLB1L:NM_001286427:exon4:c.G424A:p.E142K	.	.	423	1092	7	0	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.0	B	0.005	B	0.894	N	1.000	N	0.16	N	-4.63	D	0.017	D	0.759	D	0.319	1.156	9.708	-0.962	-0.051	0.062	10.141	0.361	0.0418939391454	.	0.00159744	0.0011	9.617e-05	0	0	0	0	0	0.0077	0.0009056	140	154602	rs553553552	0.0005	0.0005	0.0003	0.0007	0.0082	0.0005	0.0005	0.0077	0.0075	2.987e-05	0	0	0	0	0.0002	1.709e-05	0.0004	0.0082	0.0003	0.0003	0.0001	0.0005	0.0091	0.0002	0.0002	0.0070	0.0062	0	0	0	0	0	0	0	0	0	0.0091	0.413	0.10412	T	0.743	0.07082	T	0.0	0.02946	B	0.005	0.11217	B	0.893616	0.08670	N	0.957715	1	0.08975	N	0.285	0.10073	N	-4.63	0.97902	D	-0.68	0.19509	N	0.119	0.10911	0.017	0.82598	D	0.759	0.91781	D	10	0.006966859	0.00158	T	0.041894	0.60175	D	0.361	0.68141	0.492	0.57890	0.464528537357	0.46081	0.6889280717662588	0.68832	0.11825938987	0.13311	0.24422480166	0.03184	T	0.580747	0.86267	D	-0.260269	0.12869	T	-0.141649	0.59976	T	0.0112691339831446	0.00166	T	0.845515	0.52437	T	0.04988787	0.08929	0.048656218	0.07272	0.04988787	0.08928	0.048656218	0.07272	-2.21	0.04089	T	.	.	0.079	0.22897	B	.;.;.	.;.;.	1.697807	0.21627	15.28	0.95756933283629642	0.27739	0.06951	0.12977	N	AEFBI	0.073548	0.14714	N	-1.08158657398868	0.06982	0.3230331	-1.01497655503439	0.09455	0.4705164	0.999626736971431	0.41093	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	5.65	-0.962	0.09806	0.012000	0.13184	1.180000	0.24688	-0.181000	0.10308	0.003000	0.16062	1.000000	0.68203	0.856000	0.40543	0.0:0.4549:0.0:0.5451	10.141	0.41909	539	0.73055	Glycoside hydrolase 35, catalytic domain;.;Glycoside hydrolase 35, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1557.98	33	chr2	219242541	.	C	T	1557.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.635;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=-1.220e+00;SOR=0.654	GT:AD:DP:GQ:PL	0/1:56,59:115:99:1572,0,1357	20	0	1	0
chr2	222298570	222298570	G	A	exonic	PAX3	.	nonsynonymous SNV	PAX3:NM_000438:exon1:c.C46T:p.P16S	Craniofacial-deafness-hand syndrome, Autosomal dominant;Rhabdomyosarcoma 2, alveolar, Autosomal recessive;Waardenburg syndrome, type 1, Autosomal dominant;Waardenburg syndrome, type 3, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.721	P	0.373	B	0.000	D	1.000	D	0.975	L	-3.39	D	1.070	D	0.925	D	0.318	3.513	17.95	5.03	2.312	4.628	14.738	0.373	0.463306123651	.	.	1.663e-05	0	0.0002	0	0	0	0	0	6.5e-06	1	154602	rs767173518	2.747e-06	4.104e-06	1.366e-06	4.144e-06	4.525e-05	6.4e-07	4.3e-07	7.5e-06	2.81e-06	0	4.525e-05	0	0	0	0	0	3.332e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.56456	D	0.138	0.44302	T	0.438	0.42361	B	0.197	0.43650	B	0.000145	0.49130	D	0.213073	0.985066	0.81001	D	0.895	0.22405	L	-3.44	0.99368	D	-2.63	0.60507	D	0.293	0.41754	1.070	0.98588	D	0.925	0.97537	D	10	0.29252943	0.46830	T	0.463306	0.94552	D	0.373	0.69188	0.306	0.27646	0.744467814718	0.74217	0.7734839447502793	0.77298	1.58648572353	0.88459	0.698050141335	0.66863	T	0.513353	0.82840	D	0.166592	0.70810	D	0.00152201	0.70435	D	0.822178363800049	0.47934	D	0.966103	0.87544	D	0.38726452	0.59837	0.41712463	0.65776	0.38726452	0.59838	0.41712463	0.65776	-4.914	0.43443	T	.	.	0.079	0.11654	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.616556	0.73258	26.0	0.99793826542188757	0.87928	0.96871	0.71393	D	AEFDBHCI	0.781265	0.71290	D	0.126419540800169	0.47697	2.99186	0.271018835512977	0.53852	3.552442	0.999999999669772	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	5.03	5.03	0.67015	3.676000	0.54347	9.942000	0.82663	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1455:0.8545:0.0	14.738	0.69051	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	0	0	0.02381	1315.98	33	chr2	222298570	.	G	A	1315.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=803;ExcessHet=0.0000;FS=0.685;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=1.53;SOR=0.732	GT:AD:DP:GQ:PL	0/1:59,58:117:99:1330,0,1281	20	0	1	0
chr2	222941532	222941532	C	T	exonic	ACSL3	.	nonsynonymous SNV	ACSL3:NM_001354159:exon15:c.C2041T:p.R681C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.061	B	0.014	B	0.000	D	1.000	D	1.745	L	2.77	T	-1.121	T	0.037	T	0.746	2.909	15.69	5.79	2.739	4.642	20.041	0.186	0.00986042330301	.	.	2.494e-05	0	0.0002	0	0	1.509e-05	0	0	1.94e-05	3	154602	rs776538313	1.79e-05	2.257e-05	2.328e-05	1.246e-05	0.0003	1.245e-05	1.058e-05	6.139e-05	2.922e-05	3.026e-05	0.0001	0	5.091e-05	1.883e-05	0.0003	1.083e-05	5.004e-05	0	2.011e-05	2.649e-05	3.911e-05	0	6.716e-05	5.35e-06	2.48e-06	.	.	0	0	6.716e-05	0	0	0	0	1.478e-05	0.0005	0	0.063	0.36709	T	0.093	0.39799	T	0.061	0.23190	B	0.014	0.16862	B	0.000001	0.62929	D	0.104246	1	0.81001	D	2.075	0.57047	M	2.77	0.11407	T	-4.36	0.76980	D	0.276	0.33578	-1.1213	0.02251	T	0.037	0.15943	T	10	0.22863537	0.39773	T	0.00986	0.25698	T	0.186	0.46104	0.478	0.55663	0.303174742685	0.29934	0.7388673786860687	0.73831	0.553271594919	0.52099	0.715539693832	0.69396	T	0.251285	0.62152	T	-0.183701	0.23187	T	-0.22735	0.52028	T	0.15131776034832	0.17208	T	0.966103	0.87544	D	0.29795775	0.52721	0.3036307	0.56393	0.29795775	0.52720	0.3036307	0.56392	-5.121	0.38128	T	.	.	0.086	0.10979	B	.;.	.;.	3.771070	0.54161	23.5	0.9956979436786757	0.72318	0.96549	0.69696	D	AEFBI	0.850657	0.76749	D	0.153718843873085	0.48989	3.104379	0.329781589007574	0.57298	3.894911	0.999999996921077	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.79	5.79	0.91751	4.712000	0.61578	3.344000	0.37731	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.041	0.97589	913	0.21160	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1016.98	39	chr2	222941532	.	C	T	1016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.576;DP=871;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=-1.440e-01;SOR=0.646	GT:AD:DP:GQ:PL	0/1:43,44:87:99:1031,0,961	20	0	1	0
chr2	228018630	228018630	T	C	exonic	SPHKAP	.	nonsynonymous SNV	SPHKAP:NM_001142644:exon7:c.A2224G:p.I742V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.114	B	0.053	B	0.387	N	1.000	N	1.7	L	2.8	T	-0.984	T	0.021	T	0.033	-1.976	0.007	-1.89	-0.491	-0.615	3.202	0.020	0.00358922147205	.	.	3.298e-05	0	0	0	0	5.999e-05	0	0	2.59e-05	4	154602	rs61755299	3.352e-05	3.352e-05	2.995e-05	3.713e-05	5.974e-05	2.566e-05	2.312e-05	3.171e-05	2.836e-05	5.974e-05	0	0	0	0	0	4.137e-05	1.656e-05	0	4.6e-05	4.597e-05	3.855e-05	5.381e-05	9.652e-05	2.11e-05	1.527e-05	3.249e-05	1.915e-05	9.652e-05	0	0	0	0	0	0	4.41e-05	0	0	0.557	0.06441	T	0.59	0.08419	T	0.001	0.26387	B	0.001	0.25678	B	0.387099	0.04455	N	1.331870	1	0.08975	N	1.78	0.46185	L	2.8	0.11082	T	-0.13	0.08971	N	0.046	0.02272	-0.9840	0.34069	T	0.021	0.09009	T	10	0.04324457	0.03153	T	0.003589	0.08216	T	0.020	0.03691	0.161	0.06507	0.0401082797425	0.02173	0.10811125497557804	0.10740	0.0427295893604	0.04608	0.24737983942	0.03496	T	0.012994	0.11321	T	-0.536142	0.00353	T	-0.827611	0.01305	T	0.0573600791394711	0.06747	T	0.537046	0.18049	T	0.04571234	0.07528	0.04204539	0.04918	0.04571234	0.07528	0.04204539	0.04918	-2.554	0.06161	T	.	.	0.072	0.12181	B	.;.	.;.	-0.391258	0.02246	0.229	0.14305208172542797	0.00311	0.08427	0.14357	N	AEFBHCIJ	0.089038	0.18049	N	-1.10863777848628	0.06488	0.2988339	-1.14922008782576	0.06782	0.3276228	5.08426944044918E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.27	-1.89	0.07271	-0.786000	0.04729	-2.615000	0.03546	0.502000	0.22824	0.000000	0.06391	0.000000	0.08366	0.702000	0.34203	0.2731:0.2326:0.0:0.4943	3.202	0.06257	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2281.98	33	chr2	228018630	.	T	C	2281.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.260e+00;DP=2309;ExcessHet=0.0000;FS=3.334;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=1.76;SOR=0.486	GT:AD:DP:GQ:PL	0/1:98,92:190:99:2296,0,2682	20	0	1	0
chr2	232407385	232407385	A	T	exonic	ALPG	.	nonsynonymous SNV	ALPG:NM_031313:exon3:c.A284T:p.Y95F,	.	.	422	1099	1	0	0	1	0.000454752	.	.	708106	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.44	T	0.004	B	0.023	B	0.000	N	0.966	D	0.905	L	-4.03	D	0.082	D	0.651	D	0.253	-0.102	3.498	2.15	1.228	5.502	10.638	0.354	.	0.0038	0.000798722	0.0047	0.0005	0.0010	0	0.0258	0.0056	0.0079	0.0002	0.0041461	641	154602	rs112965314	0.0047	0.0047	0.0048	0.0046	0.0048	0.0046	0.0046	0.0047	0.0046	0.0005	0.0010	0.0014	0	0.0239	0.0007	0.0048	0.0033	0.0003	0.0045	0.0045	0.0040	0.0051	0.0049	0.0042	0.0041	0.0045	0.0043	0.0008	0.0077	0.0012	0.0006	0	0.0269	0	0.0049	0.0033	0.0002	0.439	0.09291	T	0.329	0.18617	T	0.004	0.12183	B	0.023	0.19966	B	0.000022	0.55875	N	0.121890	0.965998	0.38502	D	1.155	0.29575	L	-4.03	0.96434	D	-2.53	0.54864	D	0.338	0.37923	0.082	0.83849	D	0.651	0.87827	D	10	0.0076283514	0.00173	T	.	.	.	0.354	0.67510	.	.	0.516715673709	0.51313	0.6107076595843246	0.61002	0.144314673095	0.16289	0.379582226276	0.22198	T	0.594786	0.86927	D	-0.238549	0.15535	T	-0.110308	0.62586	T	0.0179533172581384	0.00521	T	0.893511	0.63097	D	0.21547768	0.43981	0.10247308	0.24562	0.21547768	0.43981	0.10247308	0.24562	-3.415	0.15259	T	.	.	0.124	0.25978	B	.	.	2.137013	0.27209	17.38	0.66176236724274862	0.07983	0.79790	0.39608	D	AEFDGBCI	0.331133	0.43095	N	-0.590669849856803	0.19227	1.004628	-0.54769153269538	0.20868	1.12624	0.999834761353013	0.43792	0.660377	0.49826	0	0.59043	0.45803	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	2.15	2.15	0.26590	4.687000	0.61396	7.572000	0.60737	0.513000	0.23382	0.996000	0.39380	1.000000	0.68203	0.008000	0.08271	1.0:0.0:0.0:0.0	10.638	0.44767	840	0.37365	.	.	.	.	.	.	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	2158.98	69	chr2	232407385	.	A	T	2158.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.74;DP=1926;ExcessHet=0.0000;FS=0.515;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=0.820;QD=10.18;ReadPosRankSum=-4.690e-01;SOR=0.759	GT:AD:DP:GQ:PL	0/1:128,84:212:99:2173,0,3580	20	0	1	0
chr2	232847516	232847519	CACA	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	43047.11	33	chr2	232847516	.	CACA	C,*	43047.11	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=-2.081e+00;DP=2385;ExcessHet=2.1081;FS=4.230;InbreedingCoeff=-0.0572;MLEAC=17,2;MLEAF=0.405,0.048;MQ=60.00;MQRankSum=0.00;QD=21.31;ReadPosRankSum=0.139;SOR=0.994	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,130,0:130:99:.:.:5472,391,0,5472,391,5472	6	3	10	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	2757.23	33	chr2	232847517	.	A	*,AG	2757.23	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=-8.110e-01;DP=2381;ExcessHet=1.0911;FS=4.374;InbreedingCoeff=0.0455;MLEAC=19,1;MLEAF=0.452,0.024;MQ=60.00;MQRankSum=0.00;QD=1.42;ReadPosRankSum=-1.791e+00;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,130,0:130:99:.:.:5472,391,0,5472,391,5472	6	4	10	0
chr2	233125750	233125750	A	G	exonic	INPP5D	.	nonsynonymous SNV	INPP5D:NM_001017915:exon4:c.A355G:p.S119G	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.056	N	1.000	N	.	.	-2.9	D	-0.123	T	0.586	D	0.337	0.120	4.646	1.3	-0.033	0.653	3.388	0.367	0.0410445523946	7.7e-05	0.000599042	0.0004	0.0001	0	0	0	0	0.0049	0.0032	0.0003363	52	154602	rs367778042	0.0002	0.0002	0.0001	0.0003	0.0029	0.0002	0.0002	0.0026	0.0025	2.99e-05	0	0	0	1.875e-05	0.0005	5.04e-05	0.0003	0.0029	8.536e-05	8.53e-05	5.141e-05	0.0001	0.0027	4.954e-05	3.96e-05	0.0016	0.0013	0	0	0	0	0	0	0	0	0	0.0027	.	.	.	0.501	0.11153	T	0.0	0.02946	B	0.0	0.01387	B	0.055986	0.02080	N	1.881890	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.102	0.12341	-0.1226	0.79574	T	0.586	0.85127	D	9	0.003961295	0.00082	T	0.041045	0.59713	D	0.367	0.68670	.	.	0.319686207203	0.31575	0.22191490475690914	0.22106	0.522889218915	0.50007	0.328349530697	0.14685	T	0.217836	0.58038	T	-0.43213	0.01439	T	-0.397493	0.33676	T	0.0148600041866302	0.00314	T	.	.	.	0.026433587	0.01700	0.039217014	0.03965	0.026433587	0.01700	0.039217014	0.03965	-3.837	0.21358	T	.	.	0.050	0.00179	B	.;.	.;.	0.863058	0.12354	8.894	0.61669219812412612	0.06767	0.03071	0.07982	N	AEFDBCI	0.047469	0.07996	N	-1.05120320636646	0.07564	0.351799	-1.07351787209536	0.08224	0.4034258	0.999952055189956	0.48110	0.706548	0.73137	0	0.702456	0.74545	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.09	1.3	0.20778	0.479000	0.21938	2.776000	0.34703	0.756000	0.94297	0.002000	0.15269	0.847000	0.27355	0.015000	0.10482	0.4834:0.0:0.1806:0.336	3.388	0.06856	790	0.46189	.;.	.	.	.	.	.	Uncertain significance	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	2327.98	34	chr2	233125750	.	A	G	2327.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.400e-01;DP=1070;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=-4.000e-02;SOR=0.665	GT:AD:DP:GQ:PL	0/1:76,91:167:99:2342,0,1831	20	0	1	0
chr2	233743685	233743685	T	C	exonic	DNAJB3	.	nonsynonymous SNV	DNAJB3:NM_001001394:exon1:c.A232G:p.T78A,	.	.	262	1239	19	2	0	23	0.00919632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.00179712	0.0024	0.0018	0.0008	0.0009	0.0008	0.0031	0.0022	0.0025	0.0020892	323	154602	rs192235508	0.0023	0.0019	0.0022	0.0024	0.0161	0.0022	0.0022	0.0131	0.0120	0.0017	0.0012	0.0002	0.0004	0.0016	0.0161	0.0023	0.0031	0.0030	0.0022	0.0022	0.0023	0.0021	0.0031	0.0020	0.0019	0.0028	0.0027	0.0012	0	0.0012	0.0003	0.0010	0.0013	0.0272	0.0031	0.0024	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1697.98	38	chr2	233743685	.	T	C	1697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.080e-01;DP=1140;ExcessHet=0.0000;FS=0.586;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=0.833;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,73:159:99:0|1:233743685_T_C:1712,0,3178:233743685	20	0	1	0
chr2	237763265	237763265	G	C	exonic	LRRFIP1	.	nonsynonymous SNV	LRRFIP1:NM_001137553:exon8:c.G1384C:p.V462L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.103	B	0.058	B	0.000	N	1.000	N	0.805	L	2.47	T	-1.022	T	0.031	T	0.145	0.645	7.461	0.893	0.782	0.662	5.113	0.132	0.00416971337276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.11	0.38016	T	0.058	0.25884	B	0.04	0.26451	B	0.000000	0.00162	N	8.524060	1	0.08975	N	0.55	0.14455	N	2.43	0.15261	T	-0.53	0.16393	N	0.029	0.01577	-1.0215	0.23227	T	0.031	0.13461	T	10	0.045998752	0.03736	T	0.00417	0.10026	T	0.132	0.35948	0.055	0.00145	0.243972157842	0.24002	0.008966416936301227	0.00859	0.0678921791681	0.07604	0.270930975676	0.06263	T	0.00423	0.03640	T	-0.278936	0.10781	T	-0.638449	0.09783	T	0.0945349022392884	0.11744	T	0.632737	0.24712	T	0.19365129	0.41084	0.109754354	0.26457	0.19365129	0.41084	0.109754354	0.26456	-3.598	0.18263	T	.	.	0.195	0.45236	B	.;.;.	.;.;.	1.193915	0.15853	12.15	0.88867264072616592	0.18320	0.24685	0.22470	N	AEFBI	0.080967	0.16377	N	-1.0006390569882	0.08590	0.4033749	-1.10606014460812	0.07584	0.3694582	0.814912829825727	0.24421	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	0.893	0.893	0.18369	-0.122000	0.10602	-5.915000	0.01554	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.0:1.0:0.0	5.113	0.14153	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	1388.98	35	chr2	237763265	.	G	C	1388.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=1142;ExcessHet=0.0000;FS=0.701;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=0.742;SOR=0.586	GT:AD:DP:GQ:PL	0/1:61,53:114:99:1403,0,1545	20	0	1	0
chr2	240757426	240757426	-	TCC	exonic	KIF1A	.	nonframeshift insertion	KIF1A:NM_001379632:exon26:c.2699_2700insGGA:p.E900_D901insE	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878988727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	45978.09	90	chr2	240757423	.	ATCC	A,ATCCTCC	45978.09	.	AC=22,1;AF=0.524,0.024;AN=42;BaseQRankSum=-5.170e-01;DP=2530;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=22,1;MLEAF=0.524,0.024;MQ=60.00;MQRankSum=0.00;QD=29.32;ReadPosRankSum=0.110;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:54,49,0:103:99:.:.:1795,0,1961,1956,2110,4066	5	7	8	0
chr2	241096064	241096078	GTCATCCTCATCATT	-	exonic	MTERF4	.	nonframeshift deletion	MTERF4:NM_001330179:exon3:c.502_516del:p.N168_D172del	.	.	417	1099	5	1	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0159	.	0.0011	0.0035	8.648e-05	0.0001	0	0.0002	0.0011	0.0047	0.0008344	129	154602	rs745932546	0.0006	0.0006	0.0005	0.0007	0.0053	0.0005	0.0005	0.0049	0.0048	0.0040	0.0002	0	5.04e-05	3.744e-05	0.0014	0.0002	0.0008	0.0053	0.0012	0.0012	0.0012	0.0012	0.0060	0.0011	0.0010	0.0043	0.0037	0.0035	0	0.0003	0	0	0	0	0.0001	0.0014	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3022.94	35	chr2	241096063	.	CGTCATCCTCATCATT	C	3022.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.780e-01;DP=921;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.79;ReadPosRankSum=0.176;SOR=0.737	GT:AD:DP:GQ:PL	0/1:96,84:181:99:3037,0,4254	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	0/2:36,11,15:79:99:237,109,1490,0,759,775	0	0	1	0
chr2	241373241	241373241	A	G	exonic	FARP2	.	nonsynonymous SNV	FARP2:NM_001282983:exon2:c.A134G:p.H45R	.	.	427	1047	45	3	0	51	0.0237762	.	.	719777	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.59	T	0.001	B	0.002	B	0.855	N	1.000	N	0.51	N	-0.8	T	-0.777	T	0.334	T	0.342	0.765	8.045	-7.7	-0.811	-0.085	10.763	0.174	.	0.0007	0.00359425	0.0034	9.697e-05	0.0009	0.0001	0.0002	0.0013	0.0101	0.0202	0.0028913	447	154602	rs150312458	0.0015	0.0016	0.0010	0.0021	0.0190	0.0015	0.0015	0.0182	0.0179	6.429e-05	0.0006	0.0040	2.674e-05	3.818e-05	0.0100	0.0003	0.0020	0.0190	0.0013	0.0013	0.0010	0.0016	0.0197	0.0011	0.0011	0.0165	0.0153	0.0001	0	0.0007	0.0046	0	0.0002	0.0068	0.0007	0.0047	0.0197	0.316	0.13744	T	0.476	0.13832	T	0.001	0.07471	B	0.001	0.06944	B	0.854686	0.08938	N	0.936529	1	0.08975	N	0.935	0.23595	L	-0.8	0.87591	T	-1.46	0.49684	N	0.218	0.24385	-0.7772	0.56459	T	0.334	0.70101	T	10	0.004382789	0.00089	T	.	.	.	0.174	0.44019	.	.	0.508223314113	0.50461	0.17052013720467224	0.16972	0.0643189233085	0.07168	0.276633054018	0.07027	T	0.053007	0.29322	T	-0.345805	0.04996	T	-0.254565	0.49365	T	0.00849698532556017	0.00103	T	0.549445	0.19458	T	0.025778024	0.01554	0.043584656	0.05456	0.025778024	0.01554	0.043584656	0.05456	-2.43	0.05320	T	.	.	0.073	0.05188	B	.;.;.;.;.	.;.;.;.;.	-0.258881	0.02802	0.385	0.72898659313836633	0.10135	0.07713	0.13715	N	AEFGBHCI	0.092076	0.18644	N	-1.23713783796239	0.04472	0.2018995	-1.27425825751002	0.04781	0.2263567	0.999999937993156	0.74766	0.732398	0.92422	0	0.658105	0.61773	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.3	-7.7	0.01120	-0.086000	0.11198	-0.494000	0.08842	0.751000	0.87719	0.000000	0.06391	0.000000	0.08366	0.766000	0.36367	0.3729:0.4995:0.1276:0.0	10.763	0.45474	988	0.01987	FERM domain|Band 4.1 domain;.;.;FERM domain;FERM domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	5921.68	46	chr2	241373241	.	A	G	5921.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.73;DP=1299;ExcessHet=0.3300;FS=0.530;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=0.055;SOR=0.711	GT:AD:DP:GQ:PL	0/1:108,82:190:99:2018,0,2733	18	0	3	0
chr3	4313174	4313174	A	G	exonic	SETMAR	.	nonsynonymous SNV	SETMAR:NM_001243723:exon2:c.A433G:p.K145E	.	.	435	1083	3	1	0	5	0.00230309	.	.	2203111	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.792	P	0.137	B	.	.	1.000	N	1.955	M	-1.48	T	-0.305	T	0.619	D	0.351	2.412	14.02	1.32	-0.016	0.113	16.098	0.346	0.114256043569	.	.	4.956e-05	0	0	0	0	3.002e-05	0	0.0002	3.88e-05	6	154602	rs779189977	1.71e-05	1.71e-05	1.225e-05	2.2e-05	0.0014	1.174e-05	9.92e-06	0.0007	0.0005	0	0	0	0	0	0.0014	5.396e-06	3.312e-05	0.0001	1.97e-05	1.968e-05	1.285e-05	2.685e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0	0.0002	0.007	0.68238	D	0.019	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	2.205	0.62170	M	-2.63	0.90083	D	-1.02	0.36980	N	0.407	0.44761	-0.3046	0.74856	T	0.619	0.86547	D	9	0.22900897	0.39819	T	0.114256	0.79304	D	0.346	0.66769	.	.	0.791053330979	0.78911	0.38218366357054334	0.38133	0.0369096761219	0.03911	0.308303982019	0.11651	T	0.038158	0.24739	T	-0.121799	0.32831	T	-0.153053	0.58973	T	0.116224763155459	0.14056	T	0.889911	0.83579	D	0.33849362	0.56159	0.2313799	0.48267	0.33849362	0.56159	0.2313799	0.48266	-10.224	0.75241	D	.	.	0.201	0.55876	B	.;.;.	.;.;.	2.956882	0.39368	20.9	0.99490197094641075	0.67403	0.69500	0.34212	D	AEFBI	0.145130	0.26827	N	-0.291865420866623	0.29461	1.633981	-0.254242135982768	0.29626	1.661276	0.784309030989033	0.23901	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.662433	0.64102	0	.	.	5.18	1.32	0.20897	0.112000	0.15312	0.329000	0.17264	0.756000	0.94297	0.779000	0.29461	0.743000	0.26496	0.693000	0.33928	0.3368:0.6631:0.0:0.0	16.098	0.80948	937	0.14592	SET domain|SET 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	1481.98	121	chr3	4313174	.	A	G	1481.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.503e+00;DP=994;ExcessHet=0.0000;FS=5.908;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.38;ReadPosRankSum=0.207;SOR=0.852	GT:AD:DP:GQ:PL	0/1:94,64:158:99:1496,0,2649	20	0	1	0
chr3	9893079	9893079	C	G	exonic	JAGN1	.	nonsynonymous SNV	JAGN1:NM_001363890:exon2:c.C92G:p.S31C	Neutropenia, severe congenital, 6, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.975	D	0.815	P	0.001	D	1.000	D	2.535	M	.	.	-0.164	T	0.425	T	0.432	4.204	21.8	5.73	2.709	3.977	19.488	0.231	0.0222805343604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.437e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.34621	T	0.112	0.37037	T	0.975	0.58077	D	0.815	0.58847	P	0.000567	0.43250	D	0.239229	0.999811	0.49394	D	1.85	0.49092	L	.	.	.	-2.63	0.56466	D	0.312	0.35194	-0.1637	0.78580	T	0.425	0.76883	T	9	0.7841961	0.78107	D	0.022281	0.45152	T	0.231	0.53208	0.628	0.76366	0.683740502345	0.68104	0.6627413893646246	0.66211	0.212106756448	0.23704	0.526173651218	0.42496	T	0.678045	0.90516	D	-8.60054e-05	0.51642	T	-0.2379	0.51002	T	0.779613614082336	0.45026	D	0.80002	0.44558	T	0.2279283	0.45502	0.17835206	0.40498	0.2279283	0.45503	0.17835206	0.40498	-4.712	0.33549	T	0.4634591731430876	0.54522	0.089	0.12037	B	.;.	.;.	3.806161	0.54877	23.5	0.98816351311557915	0.46704	0.94644	0.61841	D	AEFDBHCI	0.796274	0.72345	D	0.675974272007514	0.78056	6.795716	0.657737313030869	0.79189	7.029903	0.99999999998018	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.73	5.73	0.89730	4.046000	0.57088	7.664000	0.64404	0.544000	0.25403	0.976000	0.34826	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	19.488	0.95031	671	0.60868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	320.11	36	chr3	9893079	.	C	G	320.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.141e+00;DP=1133;ExcessHet=0.1072;FS=87.192;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=1.26;ReadPosRankSum=1.78;SOR=8.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,17:104:99:0|1:9893075_C_G:147,0,3304:9893075	19	0	2	0
chr3	12813374	12813374	A	T	exonic	CAND2	.	nonsynonymous SNV	CAND2:NM_012298:exon5:c.A713T:p.E238V	.	.	424	1060	34	4	0	42	0.0194265	.	.	2819925	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.384	B	0.311	B	0.000	D	1.000	D	2.015	M	-0.27	T	-0.553	T	0.232	T	0.343	3.098	16.35	4.67	1.739	6.415	12.078	0.231	0.212997662004	0.0058	0.00259585	0.0050	0.0010	0.0043	0	0.0034	0.0070	0.0047	0.0027	0.0050517	781	154602	rs138783925	0.0061	0.0061	0.0061	0.0061	0.0112	0.0060	0.0059	0.0090	0.0082	0.0012	0.0059	0.0145	5.038e-05	0.0032	0.0112	0.0066	0.0073	0.0023	0.0053	0.0053	0.0057	0.0048	0.0077	0.0050	0.0048	0.0071	0.0069	0.0014	0	0.0077	0.0147	0	0.0020	0.0068	0.0076	0.0080	0.0033	0.002	0.78490	D	0.005	0.72224	D	0.384	0.34453	B	0.311	0.41430	B	0.000283	0.46274	D	0.082402	1	0.81001	D	2.565	0.75005	M	-0.27	0.67367	T	-4.03	0.74900	D	0.449	0.54845	-0.5528	0.66680	T	0.232	0.59757	T	10	0.0043477714	0.00088	T	0.212998	0.87384	D	0.231	0.53208	.	.	0.854174799299	0.85277	0.42959531088564745	0.42876	0.521512358638	0.49918	0.494949102402	0.38125	T	0.124184	0.44905	T	-0.305828	0.08121	T	-0.208072	0.53879	T	0.046848688626475	0.04939	T	0.70293	0.31283	T	0.41039586	0.61445	0.3350563	0.59324	0.41039586	0.61446	0.3350563	0.59323	-8.817	0.66511	D	.	.	0.164	0.41541	B	.;.	.;.	4.017003	0.59304	24.1	0.97823422286081851	0.36213	0.99131	0.91682	D	AEFDBI	0.659531	0.63041	D	0.130841528955499	0.47906	3.009839	0.223713165953116	0.51167	3.301554	0.999999894199915	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.67	4.67	0.58089	5.313000	0.65584	11.185000	0.88454	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	12.078	0.52956	835	0.38313	.;.	RPL32	Nerve_Tibial	.	.	.	Uncertain significance	0	0	0	0	0	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	2241.11	40	chr3	12813374	.	A	T	2241.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.340e-01;DP=862;ExcessHet=0.1072;FS=1.873;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=0.531;SOR=0.563	GT:AD:DP:GQ:PL	0/1:46,40:86:99:940,0,1146	19	0	2	0
chr3	13626475	13626475	C	T	exonic	FBLN2	.	nonsynonymous SNV	FBLN2:NM_001998:exon9:c.C2186T:p.T729M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.975	D	0.337	N	0.989	D	1.365	L	-2.3	D	0.237	D	0.848	D	0.369	3.189	16.68	5.01	2.347	0.166	16.884	0.430	0.070292904572	7.8e-05	.	2.888e-05	0	0	0	0	0	0	0.0001	3.23e-05	5	154602	rs368591685	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0002	0.0002	2.459e-05	0	2.638e-05	0	0.0002	0.0002	0.0001	4.905e-05	6.569e-05	6.566e-05	5.138e-05	8.067e-05	0.0002	3.516e-05	2.615e-05	6.28e-05	4.298e-05	0.0001	0	6.541e-05	0	0.0002	9.407e-05	0	1.47e-05	0	0	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.975	0.73362	D	0.337309	0.04166	N	1.439420	0.985563	0.40869	D	1.085	0.27262	L	-2.3	0.91748	D	-3.55	0.69835	D	0.223	0.28732	0.237	0.86530	D	0.848	0.94926	D	10	0.4048417	0.55820	T	0.070293	0.70963	D	0.430	0.73662	.	.	0.645937241127	0.64301	0.7480051486041969	0.74746	0.2669790586	0.29234	0.348179936409	0.17654	T	0.663749	0.89940	D	-0.0544897	0.43762	T	-0.118404	0.61934	T	0.323978453586984	0.25982	T	0.213879	0.04034	T	0.17088178	0.37690	0.19218023	0.42718	0.17088178	0.37689	0.19218023	0.42717	-9.283	0.69500	D	.	.	0.126	0.29116	B	.;.;.	.;.;.	4.707332	0.75589	26.4	0.99908424829414344	0.97875	0.41670	0.26709	N	AEFDBI	0.202616	0.32919	N	0.285660421228604	0.55421	3.70618	0.235452326016783	0.51826	3.361865	0.999962714193869	0.48965	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	5.01	5.01	0.66477	0.314000	0.19182	5.842000	0.50257	0.545000	0.25583	0.805000	0.29786	1.000000	0.68203	0.841000	0.39698	0.0:1.0:0.0:0.0	16.884	0.85938	934	0.15400	.;EGF-like calcium-binding domain|EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1555.98	35	chr3	13626475	.	C	T	1555.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=825;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.68;ReadPosRankSum=-1.176e+00;SOR=0.770	GT:AD:DP:GQ:PL	0/1:45,61:106:99:1570,0,934	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	0/1:183,88:271:99:.:.:688,0,3599	8	0	12	1
chr3	38701841	38701841	G	A	exonic	SCN10A	.	nonsynonymous SNV	SCN10A:NM_001293307:exon25:c.C4361T:p.A1454V	Episodic pain syndrome, familial, 2, Autosomal dominant	.	347	1173	2	0	0	2	0.000851789	0.0006	0.096	239219	Brugada_syndrome|Cardiovascular_phenotype|Episodic_pain_syndrome,_familial,_2|not_provided	MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|MedGen:CN230736|MONDO:MONDO:0014246,MedGen:C3809893,OMIM:615551,Orphanet:306577|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.018	B	0.017	B	0.353	N	1.000	N	-0.7	N	-4.78	D	0.253	D	0.715	D	0.122	-1.942	0.007	-1.97	-0.042	0.725	9.860	0.317	0.0653395295858	.	.	4.325e-05	0	8.676e-05	0	0	3.06e-05	0	0.0002	3.23e-05	5	154602	rs756133876	4.353e-05	4.309e-05	4.937e-05	3.761e-05	0.0005	3.477e-05	3.16e-05	0.0001	7.615e-05	3.021e-05	2.301e-05	0	5.119e-05	0	0.0005	3.896e-05	0.0002	4.783e-05	5.253e-05	5.25e-05	7.709e-05	2.685e-05	0.0001	2.555e-05	1.829e-05	2.258e-05	9.06e-06	4.81e-05	0	0.0001	0	0	0	0.0034	2.94e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.018	0.17786	B	0.017	0.18140	B	0.352825	0.04256	N	1.421980	1	0.08975	N	-1.035	0.01121	N	-4.78	0.98140	D	2.05	0.00383	N	0.226	0.25377	0.253	0.86800	D	0.715	0.90199	D	10	0.100078315	0.18202	T	0.06534	0.69550	D	0.317	0.63904	.	.	0.494634796122	0.49099	0.3393814706820322	0.33851	0.059770093673	0.06645	0.298433721066	0.10168	T	0.353859	0.72109	T	-0.116058	0.33770	T	-0.294427	0.45311	T	0.0197732285493768	0.00679	T	0.861414	0.55526	D	0.033112288	0.03467	0.05119859	0.08189	0.033112288	0.03467	0.05119859	0.08189	-1.448	0.01661	T	.	.	0.090	0.15296	B	.;.;.;.	.;.;.;.	2.990252	0.39923	21.1	0.17404773227477557	0.00506	0.01994	0.06016	N	AEFBI	0.063666	0.12317	N	-1.5223386615749	0.01703	0.07454712	-1.48380174020813	0.02477	0.1139795	0.00401831157916729	0.10381	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.81	-1.97	0.07091	0.912000	0.28220	-1.369000	0.05603	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.258000	0.23468	0.2784:0.24:0.4817:0.0	9.860	0.40278	807	0.43470	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4336.11	34	chr3	38701841	.	G	A	4336.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.80;DP=998;ExcessHet=0.1072;FS=4.388;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=0.931;SOR=0.926	GT:AD:DP:GQ:PL	0/1:72,88:160:99:2283,0,1664	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	1/4:2,34,0,0,31,0,0:67:99:2565,1257,1173,2518,1304,2682,2518,1304,2682,2682,1122,0,1347,1347,1371,2518,1304,2682,2682,1347,2682,2518,1304,2682,2682,1347,2682,2682	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTG:p.A159_K160insAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	1/4:2,34,0,0,31,0,0:67:99:2565,1257,1173,2518,1304,2682,2518,1304,2682,2682,1122,0,1347,1347,1371,2518,1304,2682,2682,1347,2682,2518,1304,2682,2682,1347,2682,2682	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTG:p.A159_K160insAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	1/4:2,34,0,0,31,0,0:67:99:2565,1257,1173,2518,1304,2682,2518,1304,2682,2682,1122,0,1347,1347,1371,2518,1304,2682,2682,1347,2682,2518,1304,2682,2682,1347,2682,2682	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTGCTG:p.A159_K160insAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	1/4:2,34,0,0,31,0,0:67:99:2565,1257,1173,2518,1304,2682,2518,1304,2682,2682,1122,0,1347,1347,1371,2518,1304,2682,2682,1347,2682,2518,1304,2682,2682,1347,2682,2682	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTGCTGCTG:p.A159_K160insAAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	1/4:2,34,0,0,31,0,0:67:99:2565,1257,1173,2518,1304,2682,2518,1304,2682,2682,1122,0,1347,1347,1371,2518,1304,2682,2682,1347,2682,2518,1304,2682,2682,1347,2682,2682	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	0/2:41,2,33,0,0:76:99:1219,1282,3185,0,1627,1608,1366,3096,1718,3164,1366,3096,1718,3164,3164	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	0/2:41,2,33,0,0:76:99:1219,1282,3185,0,1627,1608,1366,3096,1718,3164,1366,3096,1718,3164,3164	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	0/2:41,2,33,0,0:76:99:1219,1282,3185,0,1627,1608,1366,3096,1718,3164,1366,3096,1718,3164,3164	1	3	1	0
chr3	44570267	44570267	A	G	exonic	ZKSCAN7	.	nonsynonymous SNV	ZKSCAN7:NM_001288592:exon5:c.A704G:p.D235G	.	.	392	1096	31	3	0	37	0.0165994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.016	B	0.012	B	.	.	1.000	N	1.05	L	5.4	T	-0.974	T	0.017	T	0.205	1.655	11.49	1.76	0.187	-1.906	5.422	0.018	0.00254541482837	0.0012	0.00219649	0.0028	0.0003	0.0010	0	0.0021	0.0029	0.0033	0.0071	0.002639	408	154602	rs149725884	0.0022	0.0022	0.0020	0.0024	0.0114	0.0021	0.0021	0.0092	0.0084	0.0004	0.0018	0.0085	0	0.0029	0.0114	0.0017	0.0029	0.0070	0.0019	0.0019	0.0016	0.0022	0.0064	0.0017	0.0016	0.0046	0.0040	0.0003	0	0.0017	0.0081	0	0.0034	0.0204	0.0021	0.0028	0.0064	0.027	0.51248	D	0.087	0.44702	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	2.14	0.59869	M	5.4	0.07478	T	-4.08	0.75456	D	0.282	0.31925	-0.9744	0.36257	T	0.017	0.06902	T	9	0.0050780475	0.00110	T	0.002545	0.05093	T	0.018	0.03083	.	.	0.198526703765	0.19489	0.04919153974845222	0.04862	0.0997049403275	0.11260	0.230041772127	0.01971	T	0.183488	0.53585	T	-0.589298	0.00169	T	-0.615537	0.11539	T	0.0203927922993898	0.00739	T	.	.	.	0.18759097	0.40220	0.24652185	0.50163	0.18759097	0.40219	0.24652185	0.50162	-5.464	0.41530	T	.	.	0.107	0.28721	B	.;.;.	.;.;.	1.275397	0.16744	12.74	0.99518469052978487	0.69100	0.05613	0.11520	N	AEFGBI	0.086814	0.17603	N	-0.778841391921358	0.13862	0.6860513	-0.750185981825502	0.15717	0.8280359	0.0106314440060842	0.12057	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.616125	0.45549	0	.	.	4.22	1.76	0.23776	-1.488000	0.02413	0.142000	0.15184	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.595000	0.31264	0.566:0.3409:0.0931:0.0	5.422	0.15706	333	0.86326	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4802.11	33	chr3	44570267	.	A	G	4802.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.10;DP=1081;ExcessHet=0.1072;FS=0.521;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.97;MQRankSum=1.35;QD=11.95;ReadPosRankSum=0.876;SOR=0.662	GT:AD:DP:GQ:PL	0/1:120,107:227:99:2638,0,3197	19	0	2	0
chr3	46539197	46539197	A	G	exonic	LRRC2	.	nonsynonymous SNV	LRRC2:NM_024512:exon4:c.T338C:p.L113P,	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.948	P	0.65	P	0.044	N	1.000	D	2.005	M	1.32	T	-0.854	T	0.144	T	0.777	3.971	20.3	4.9	1.981	6.558	12.798	0.380	0.0331979937429	.	.	9.064e-05	0	0	0	0	0	0	0.0007	7.12e-05	11	154602	rs779464695	5.954e-05	6.02e-05	3.132e-05	8.804e-05	0.0008	4.884e-05	4.563e-05	0.0006	0.0006	0	0	0	0	0	0.0003	1.349e-05	4.969e-05	0.0008	1.972e-05	1.97e-05	1.285e-05	2.691e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.001	0.78490	D	0.004	0.74150	D	0.948	0.53620	P	0.65	0.52463	P	0.044472	0.23635	N	0.398002	1	0.81001	D	2.63	0.76995	M	1.32	0.35219	T	-5.99	0.89401	D	0.697	0.78737	-0.8542	0.51675	T	0.144	0.46696	T	10	0.4443475	0.58300	T	0.033198	0.54812	D	0.380	0.69780	0.651	0.78858	0.612687967795	0.60956	0.8777672790471259	0.87743	1.05290775885	0.76214	0.460639059544	0.33397	T	0.051094	0.28783	T	-0.150584	0.28221	T	-0.0579024	0.66479	T	0.843385577201843	0.49606	D	0.756224	0.37950	T	0.75226873	0.81000	0.74859846	0.85140	0.75226873	0.81002	0.74859846	0.85141	-12.461	0.87024	D	.	.	0.808	0.78027	P	.;.	.;.	5.030071	0.83658	28.1	0.99894209276254342	0.96742	0.98108	0.79665	D	ALL	0.930742	0.91849	D	0.564332193753486	0.70959	5.57877	0.563184888829093	0.72321	5.79123	0.999999999999998	0.74766	0.615465	0.37627	0	0.166054	0.03914	2	0.658983	0.55881	0	0.192219	0.04218	2	.	.	4.9	4.9	0.63643	7.633000	0.82427	8.871000	0.78331	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	12.798	0.56950	411	0.82069	.;.	.	.	.	.	.	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	1434.98	41	chr3	46539197	.	A	G	1434.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.540e-01;DP=924;ExcessHet=0.0000;FS=3.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.80;ReadPosRankSum=0.339;SOR=0.429	GT:AD:DP:GQ:PL	0/1:44,60:104:99:1449,0,1005	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	0/1:39,34,0:73:99:1285,0,1521,1402,1623,3026	2	7	11	0
chr3	47247423	47247423	T	C	exonic	KIF9	.	nonsynonymous SNV	KIF9:NM_001377474:exon11:c.A958G:p.I320V	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.281	B	0.122	B	0.000	D	1.000	N	1.23	L	0.57	T	-0.922	T	0.067	T	0.177	2.591	14.62	4.79	1.788	4.097	12.282	0.054	.	0.0035	0.0061901	0.0016	0.0131	0.0015	0	0	0.0003	0.0011	0.0010	0.0015718	243	154602	rs75653157	0.0009	0.0009	0.0009	0.0009	0.0156	0.0008	0.0008	0.0145	0.0141	0.0156	0.0020	0.0013	2.519e-05	0	0.0026	0.0004	0.0017	0.0007	0.0041	0.0041	0.0041	0.0040	0.0124	0.0038	0.0037	0.0115	0.0112	0.0124	0	0.0046	0.0009	0	0	0	0.0003	0.0052	0.0002	0.149	0.24758	T	0.31	0.23097	T	0.264	0.32101	B	0.057	0.32387	B	0.000029	0.55875	D	0.071936	0.691854	0.30184	N	2.395	0.69210	M	0.57	0.54347	T	-0.55	0.16799	N	0.497	0.53532	-0.9220	0.45279	T	0.067	0.27708	T	10	0.0068463087	0.00156	T	.	.	.	0.054	0.15330	.	.	0.478376075226	0.47469	0.20492456048297553	0.20409	0.289587884246	0.31370	0.638782858849	0.58391	T	0.027236	0.19988	T	-0.472081	0.00825	T	-0.439212	0.28898	T	0.0151413391513368	0.00330	T	0.834817	0.51273	T	0.10588383	0.25037	0.09638045	0.22898	0.10588383	0.25037	0.09638045	0.22898	-5.068	0.37569	T	.	.	0.176	0.41031	B	.;.;.;.	.;.;.;.	3.026522	0.40527	21.2	0.99457860475872573	0.65633	0.82262	0.41516	D	AEFDI	0.388535	0.46810	N	-0.0139996184260971	0.41221	2.461818	0.12249450274927	0.45701	2.828688	0.999816803131876	0.43459	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.79	4.79	0.60909	4.156000	0.57917	7.755000	0.68203	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	12.282	0.54086	14	0.98855	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	980.98	34	chr3	47247423	.	T	C	980.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.601;DP=789;ExcessHet=0.0000;FS=0.807;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=-1.000e+00;SOR=0.875	GT:AD:DP:GQ:PL	0/1:48,41:89:99:995,0,1164	20	0	1	0
chr3	48645053	48645053	C	T	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon25:c.G7954A:p.V2652I,	.	.	415	1105	2	0	0	2	0.000904159	.	.	698157	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.35	T	0.946	P	0.416	B	.	.	1.000	D	0.375	N	1.17	T	-1.140	T	0.039	T	0.292	2.212	13.35	3.36	0.574	3.769	11.473	0.077	.	0.0029	0.00339457	0.0010	0.0106	0	0	0	3.233e-05	0.0013	0.0003	0.0008926	138	154602	rs147124288	0.0004	0.0004	0.0005	0.0003	0.0126	0.0004	0.0004	0.0116	0.0112	0.0126	0.0007	0	2.554e-05	0	0.0009	3.291e-05	0.0013	0.0002	0.0034	0.0034	0.0033	0.0034	0.0114	0.0031	0.0030	0.0106	0.0102	0.0114	0	0.0017	0	0	0	0.0034	7.351e-05	0.0033	0.0002	0.422	0.09776	T	0.615	0.07568	T	0.946	0.53363	P	0.416	0.44962	B	.	.	.	.	0.999838	0.49637	D	1.31	0.32734	L	1.17	0.37910	T	-0.16	0.09460	N	0.291	0.32921	-1.1401	0.01354	T	0.039	0.16849	T	9	0.014098644	0.00297	T	.	.	.	0.077	0.22490	.	.	0.494978086899	0.49132	0.3612865869876449	0.36042	0.234775008265	0.26015	0.521224856377	0.41798	T	0.073209	0.34642	T	-0.480533	0.00734	T	-0.453634	0.27296	T	0.0295971232476332	0.01927	T	0.766723	0.39447	T	0.03142369	0.02978	0.051109187	0.08157	0.03142369	0.02978	0.051109187	0.08157	-4.927	0.36037	T	.	.	0.082	0.08560	B	.	.	3.755518	0.53860	23.4	0.95307136473922072	0.26634	0.97660	0.76227	D	AEFBI	0.358999	0.44948	N	-0.295876892052055	0.29308	1.624079	-0.202023432913998	0.31463	1.780869	0.998440099464838	0.36977	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	5.15	3.36	0.37579	3.834000	0.55500	1.409000	0.26264	-0.237000	0.07570	0.998000	0.41325	0.787000	0.26830	0.968000	0.53726	0.0:0.8528:0.0:0.1472	11.473	0.49527	4	0.99387	GPCR, family 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	981.98	38	chr3	48645053	.	C	T	981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.997e+00;DP=796;ExcessHet=0.0000;FS=2.197;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.11;ReadPosRankSum=-5.390e-01;SOR=0.446	GT:AD:DP:GQ:PL	0/1:27,38:65:99:996,0,738	20	0	1	0
chr3	49358244	49358246	GCC	-	exonic	GPX1	.	nonframeshift deletion	GPX1:NM_001329455:exon1:c.33_35del:p.A13del,	Hemolytic anemia due to glutathione peroxidase deficiency, Autosomal recessive	.	33	116	273	343	757	1716	0.805206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	62247.2	96	chr3	49358240	.	GGCCGCC	G,GGCC	62247.2	.	AC=20,13;AF=0.476,0.310;AN=42;BaseQRankSum=0.442;DP=2322;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=20,13;MLEAF=0.476,0.310;MQ=56.82;MQRankSum=-5.003e+00;QD=32.09;ReadPosRankSum=-2.300e-01;SOR=0.702	GT:AD:DP:GQ:PL	1/2:0,57,53:110:99:4581,2193,2075,2391,0,2231	0	4	6	0
chr3	49655087	49655087	C	A	exonic	BSN	.	nonsynonymous SNV	BSN:NM_003458:exon5:c.C5531A:p.A1844D,	.	.	416	1105	1	0	0	1	0.000452284	.	.	2261582	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.181	B	0.134	B	0.035	N	0.997	N	1.735	L	2.14	T	-1.048	T	0.052	T	0.219	-0.137	3.329	3.18	1.114	0.402	10.64	0.019	0.0091235650693	0.0002	.	7.589e-05	0.0007	8.694e-05	0	0	0	0	6.106e-05	5.82e-05	9	154602	rs150712047	2.191e-05	2.189e-05	2.725e-05	1.652e-05	0.0007	1.586e-05	1.357e-05	0.0005	0.0004	0.0007	2.237e-05	0	0	0	0	0	9.937e-05	0	0.0001	0.0001	0.0001	0.0001	0.0005	8.166e-05	6.722e-05	0.0003	0.0002	0.0005	0	0	0	0	0	0	0	0	0	0.095	0.31235	T	0.014	0.62352	D	0.181	0.29111	B	0.134	0.33146	B	0.035061	0.24690	N	0.435018	0.996716	0.22926	N	1.905	0.50856	L	2.14	0.19450	T	-2.1	0.47852	N	0.31	0.34981	-1.0485	0.14818	T	0.052	0.21921	T	10	0.06847793	0.09690	T	0.009124	0.23988	T	0.019	0.03383	.	.	0.117191471859	0.11215	0.6397062632840562	0.63905	0.412731529237	0.42005	0.498981773853	0.38686	T	0.270918	0.64321	T	-0.485824	0.00685	T	-0.581595	0.14403	T	0.0132756623731546	0.00237	T	0.653235	0.26349	T	0.15131667	0.34406	0.20656244	0.44875	0.15131667	0.34405	0.20656244	0.44874	-4.422	0.29853	T	.	.	0.136	0.29615	B	.	.	2.457623	0.31654	18.81	0.9165444579588431	0.20943	0.19427	0.20656	N	AEFDBHCI	0.202765	0.32933	N	-0.480178310723572	0.22731	1.215818	-0.478313793826385	0.22752	1.237349	0.985853603469466	0.30960	0.554377	0.28877	0	0.588066	0.40923	0	0.603688	0.36954	0	0.567892	0.33627	0	.	.	5.2	3.18	0.35615	1.335000	0.33444	1.350000	0.25801	-0.253000	0.07101	0.546000	0.27314	0.779000	0.26763	0.581000	0.30918	0.0:0.6649:0.2421:0.093	10.64	0.44780	1	0.99630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1781.98	34	chr3	49655087	.	C	A	1781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.132;DP=980;ExcessHet=0.0000;FS=1.291;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=0.095;SOR=0.833	GT:AD:DP:GQ:PL	0/1:86,68:154:99:1796,0,2293	20	0	1	0
chr3	49656218	49656218	G	A	exonic	BSN	.	nonsynonymous SNV	BSN:NM_003458:exon5:c.G6662A:p.R2221H,	.	.	423	1098	1	0	0	1	0.000455166	.	.	2881382	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.167	B	0.031	B	0.000	N	1.000	D	2.135	M	1.08	T	-0.975	T	0.120	T	0.442	2.500	14.32	4.65	1.341	7.890	12.833	0.220	0.0184866301862	0.0002	.	0.0001	0.0007	8.681e-05	0	0	6.072e-05	0	6.559e-05	9.06e-05	14	154602	rs149454072	4.115e-05	4.104e-05	5.184e-05	3.034e-05	0.0007	3.253e-05	2.927e-05	0.0005	0.0004	0.0007	2.245e-05	0	7.563e-05	0	0	2.072e-05	9.961e-05	2.333e-05	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0.0005	0	6.539e-05	0	0	0	0	7.348e-05	0	0	0.0	0.91255	D	0.007	0.69154	D	0.167	0.28604	B	0.031	0.21939	B	0.000001	0.84330	N	0.053948	0.999978	0.53665	D	2.33	0.66821	M	1.08	0.39401	T	-4.41	0.77391	D	0.589	0.60918	-0.9747	0.36191	T	0.120	0.41843	T	10	0.28780967	0.46363	T	0.018487	0.40571	T	0.220	0.51569	.	.	0.554237320764	0.55083	0.6847543604121539	0.68414	0.342242573836	0.36158	0.650620102882	0.60074	T	0.599788	0.87156	D	-0.277831	0.10900	T	-0.282828	0.46515	T	0.281272768974304	0.24225	T	0.867413	0.56831	D	0.56451374	0.70759	0.42792183	0.66522	0.56451374	0.70760	0.42792183	0.66522	-2.771	0.07919	T	.	.	0.101	0.17573	B	.	.	4.888453	0.80238	27.3	0.99653437687669888	0.77442	0.98019	0.78921	D	AEFDGBI	0.759502	0.69781	D	0.0243754272846263	0.42965	2.598876	0.15649144028288	0.47486	2.978166	0.999998809188195	0.74766	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	5.53	4.65	0.57626	8.010000	0.88153	7.558000	0.60417	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0759:0.0:0.9241:0.0	12.833	0.57141	1	0.99630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3871.98	34	chr3	49656218	.	G	A	3871.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.582;DP=1108;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-7.260e-01;SOR=0.716	GT:AD:DP:GQ:PL	0/1:152,158:310:99:3886,0,3633	20	0	1	0
chr3	50295070	50295070	C	T	exonic	HYAL3	.	nonsynonymous SNV	HYAL3:NM_001200029:exon2:c.G533A:p.R178H	.	.	417	1041	59	5	0	69	0.0320781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	U	1.000	D	3.225	M	1.72	T	-0.746	T	0.140	T	0.415	4.073	20.9	2.89	1.218	0.479	9.003	0.250	.	0.0035	0.00539137	0.0053	0.0006	0.0045	0	0	0.0045	0.01	0.0171	0.004877	754	154602	rs139756596	0.0039	0.0039	0.0034	0.0044	0.0178	0.0038	0.0038	0.0170	0.0167	0.0007	0.0040	0.0331	0	7.569e-05	0.0168	0.0024	0.0061	0.0178	0.0032	0.0032	0.0030	0.0034	0.0170	0.0029	0.0028	0.0140	0.0129	0.0006	0	0.0041	0.0331	0	0.0002	0.0102	0.0027	0.0028	0.0170	0.004	0.65419	D	0.029	0.65728	D	1.0	0.90584	D	0.999	0.97372	D	0.000042	0.53742	U	0.069612	0.990805	0.81001	D	3.48	0.92553	M	1.72	0.26588	T	-3.56	0.68880	D	0.299	0.33796	-0.7459	0.58149	T	0.140	0.45922	T	10	0.006772101	0.00154	T	.	.	.	0.250	0.55888	.	.	0.104622674875	0.10061	0.7554816360088094	0.75495	0.737908363262	0.63085	0.288535296917	0.08710	T	0.446394	0.78906	T	-0.423238	0.01632	T	-0.367103	0.37227	T	0.0763690686936043	0.09517	T	0.819918	0.47811	T	0.22886135	0.45613	0.2439974	0.49856	0.22886135	0.45613	0.2439974	0.49855	-7.173	0.55288	T	.	.	0.107	0.22098	B	.;.;.;.	.;.;.;.	3.297172	0.45244	22.1	0.99949030492686874	0.99931	0.33740	0.24901	N	AEFBCI	.	.	.	0.351077098192796	0.58796	4.054184	0.17647269697279	0.48562	3.07037	0.999997892522706	0.74766	0.615465	0.37627	0	0.550933	0.16991	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.74	2.89	0.32713	0.397000	0.20608	1.098000	0.24042	-0.186000	0.09761	0.024000	0.20007	0.869000	0.27571	0.945000	0.48827	0.0:0.8124:0.0:0.1876	9.003	0.35256	3	0.99430	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1539.98	36	chr3	50295070	.	C	T	1539.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.770e-01;DP=798;ExcessHet=0.0000;FS=0.714;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=1.69;SOR=0.581	GT:AD:DP:GQ:PL	0/1:48,64:112:99:1554,0,1084	20	0	1	0
chr3	50341858	50341858	T	C	exonic	ZMYND10	.	nonsynonymous SNV	ZMYND10:NM_001308379:exon9:c.A1058G:p.Q353R	Ciliary dyskinesia, primary, 22, Autosomal recessive	.	426	1090	6	0	0	6	0.00274474	.	.	239243	Primary_ciliary_dyskinesia_22|Primary_ciliary_dyskinesia|not_provided	MONDO:MONDO:0014192,MedGen:C3809543,OMIM:615444,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.0	B	0.001	B	0.004	N	1.000	N	0	N	.	.	-1.060	T	0.012	T	0.012	0.185	4.995	-2.6	-0.340	1.208	12.954	0.047	.	0.0052	0.00579073	0.0017	0.0165	0.0008	0	0	0.0003	0.0011	0.0002	0.0017205	266	154602	rs114329675	0.0008	0.0008	0.0008	0.0007	0.0202	0.0008	0.0007	0.0189	0.0184	0.0202	0.0014	3.826e-05	0	0	0.0127	0.0002	0.0023	6.957e-05	0.0051	0.0051	0.0052	0.0049	0.0176	0.0048	0.0047	0.0165	0.0161	0.0176	0	0.0009	0	0	0	0	0.0002	0.0047	0	0.283	0.16358	T	0.282	0.22291	T	0.0	0.02946	B	0.0	0.04355	B	0.004225	0.33968	N	0.330852	0.999996	0.08975	N	0.74	0.18910	N	.	.	.	0.13	0.08033	N	0.156	0.21056	-1.0600	0.11756	T	0.012	0.04795	T	9	0.003219515	0.00055	T	.	.	.	0.047	0.12962	.	.	0.0138822411134	0.00435	0.20503829545660798	0.20420	0.172173562126	0.19387	0.227268278599	0.01772	T	0.079417	0.36123	T	-0.693055	0.00040	T	-0.754022	0.03332	T	0.00194585537918871	0.00020	T	0.494051	0.15636	T	0.05064666	0.09181	0.10757778	0.25900	0.060169525	0.12314	0.11334016	0.27351	-2.397	0.05494	T	0.0963831470771077	0.06662	0.054	0.00436	B	.;.	.;.	0.347882	0.07210	3.804	0.56244261017463215	0.05511	0.58399	0.30632	D	AEFBCI	0.245144	0.36613	N	-1.12103000856732	0.06270	0.2881754	-1.06882637179265	0.08319	0.4085287	0.999803060348905	0.43304	0.59774	0.34471	0	0.475579	0.06741	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	5.11	-2.6	0.05830	1.207000	0.31938	-1.979000	0.04399	-0.870000	0.02561	0.999000	0.42656	0.000000	0.08366	0.266000	0.23669	0.0:0.1395:0.0:0.8605	12.954	0.57815	2	0.99499	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1313.98	34	chr3	50341858	.	T	C	1313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.035e+00;DP=844;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=-1.449e+00;SOR=0.736	GT:AD:DP:GQ:PL	0/1:62,49:111:99:1328,0,1892	20	0	1	0
chr3	50577534	50577534	G	A	exonic	HEMK1	.	nonsynonymous SNV	HEMK1:NM_001317851:exon6:c.G575A:p.R192Q	.	.	420	1093	7	2	0	11	0.00500683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.001	B	0.001	B	0.109	N	1.000	N	-1.445	N	2.59	T	-1.032	T	0.010	T	0.103	0.706	7.765	-0.793	-0.357	-0.445	4.719	0.020	.	0.0091	0.00938498	0.0033	0.0277	0.0033	0.0001	0	0.0009	0	0.0006	0.0032665	505	154602	rs2232250	0.0017	0.0017	0.0018	0.0017	0.0321	0.0017	0.0017	0.0305	0.0298	0.0321	0.0040	0.0023	2.519e-05	0	0.0170	0.0007	0.0045	0.0004	0.0094	0.0095	0.0102	0.0087	0.0310	0.0090	0.0089	0.0296	0.0290	0.0310	0	0.0046	0.0020	0	0	0.0068	0.0007	0.0095	0.0004	0.404	0.10730	T	0.345	0.31326	T	0.001	0.07471	B	0.001	0.04355	B	0.109474	0.19483	N	0.548760	1	0.08975	N	-0.575	0.02294	N	2.59	0.62918	T	0.59	0.02558	N	0.091	0.06990	-1.0320	0.19809	T	0.010	0.03856	T	10	0.0021450818	0.00031	T	.	.	.	0.020	0.03691	.	.	0.341696514166	0.33777	0.32096688471079987	0.32009	0.158631535098	0.17909	0.285642117262	0.08291	T	0.041534	0.25890	T	-0.591459	0.00164	T	-0.599369	0.12864	T	0.00329256507389762	0.00035	T	0.423358	0.61998	T	0.01599901	0.00170	0.023275299	0.00342	0.01599901	0.00170	0.023275299	0.00342	-3.394	0.14976	T	.	.	0.079	0.10931	B	.;.;.;.	.;.;.;.	0.309243	0.06842	3.373	0.87978704248646156	0.17625	0.12030	0.17016	N	AEFDGBCI	0.035244	0.04504	N	-1.31211764640399	0.03535	0.1580976	-1.22492366298539	0.05512	0.2628246	0.999999944982321	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.04	-0.793	0.10370	-0.610000	0.05724	0.779000	0.21463	-0.244000	0.07312	0.601000	0.27755	0.572000	0.25577	0.329000	0.25179	0.4368:0.1574:0.4058:0.0	4.719	0.12291	10	0.99061	Methyltransferase small domain;Methyltransferase small domain;Methyltransferase small 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	968.98	38	chr3	50577534	.	G	A	968.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.506;DP=801;ExcessHet=0.0000;FS=0.778;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=1.15;SOR=0.590	GT:AD:DP:GQ:PL	0/1:53,40:93:99:983,0,1368	20	0	1	0
chr3	51993843	51993843	-	CCTTGG	exonic	RPL29	.	nonframeshift insertion	RPL29:NM_000992:exon4:c.385_386insCCAAGG:p.K130_D131insAK,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	9890.36	23	chr3	51993837	.	TCCTTGG	TCCTTGGCCTTGG,T	9890.36	.	AC=10,8;AF=0.250,0.200;AN=40;BaseQRankSum=0.471;DP=604;ExcessHet=4.5531;FS=11.809;InbreedingCoeff=-0.2121;MLEAC=10,8;MLEAF=0.250,0.200;MQ=57.96;MQRankSum=0.00;QD=24.85;ReadPosRankSum=-3.600e-02;SOR=1.183	GT:AD:DP:GQ:PL	2/2:0,0,34:34:99:1521,1521,1521,103,103,0	5	0	8	1
chr3	52199248	52199248	A	G	exonic	ALAS1	.	nonsynonymous SNV	ALAS1:NM_001304443:exon2:c.A7G:p.S3G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.064	B	0.077	B	0.002	N	1.000	N	0.345	N	-4.55	D	0.182	D	0.728	D	0.047	2.563	14.53	4.86	1.813	5.337	9.400	0.404	0.0956133726745	0.0022	0.00159744	0.0004	0.0045	8.651e-05	0	0	0	0.0011	6.061e-05	0.0004269	66	154602	rs150932815	0.0002	0.0002	0.0002	0.0002	0.0053	0.0002	0.0002	0.0047	0.0044	0.0053	0.0004	0	0	0	0.0002	2.878e-05	0.0006	4.637e-05	0.0014	0.0014	0.0014	0.0013	0.0045	0.0012	0.0011	0.0040	0.0038	0.0045	0	0.0009	0	0	0	0	5.882e-05	0.0009	0	0.011	0.55530	D	0.119	0.36101	T	0.005	0.12996	B	0.016	0.17743	B	0.001665	0.38326	N	0.289300	0.999944	0.19238	N	0.695	0.17993	N	-4.55	0.97753	D	-1.36	0.33798	N	0.118	0.11483	0.182	0.85609	D	0.728	0.90690	D	10	0.006792456	0.00154	T	0.095613	0.76458	D	0.404	0.71714	.	.	0.743182372233	0.74087	0.2434379850244407	0.24257	0.199415716933	0.22337	0.639546215534	0.58500	T	0.378883	0.74176	T	-0.304859	0.08209	T	-0.209457	0.53746	T	0.0319073891757056	0.02290	T	0.732927	0.34859	T	0.12308582	0.28910	0.12964271	0.31168	0.12308582	0.28910	0.12964271	0.31168	-4.164	0.26228	T	.	.	0.078	0.06990	B	.;.;.;.	.;.;.;.	3.570519	0.50282	22.9	0.99405193313866991	0.62981	0.89008	0.49222	D	AEFDGBIJ	0.685269	0.64733	D	-0.109667468273484	0.36970	2.144362	0.0767028443693293	0.43380	2.640917	0.999999896099146	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.00508	0.00061	3	.	.	4.86	4.86	0.62624	5.533000	0.66873	9.135000	0.78888	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	0.9084:0.0:0.0916:0.0	9.400	0.37589	232	0.90957	5-aminolevulinate synthase presequence;5-aminolevulinate synthase presequence;5-aminolevulinate synthase presequence;5-aminolevulinate synthase presequence	.	.	.	.	.	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	1652.98	43	chr3	52199248	.	A	G	1652.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.021e+00;DP=871;ExcessHet=0.0000;FS=1.319;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=0.040;SOR=0.564	GT:AD:DP:GQ:PL	0/1:82,68:150:99:1667,0,2176	20	0	1	0
chr3	52344587	52344587	C	T	exonic	DNAH1	.	nonsynonymous SNV	DNAH1:NM_015512:exon9:c.C1384T:p.P462S,	.	.	.	.	.	.	.	.	.	.	.	698204	DNAH1-related_disorder|Spermatogenic_failure_18|Ciliary_dyskinesia,_primary,_37	.|MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576|MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.46	T	0.93	P	0.84	P	0.000	D	1.000	D	2.51	M	1.9	T	-0.931	T	0.153	T	0.411	2.355	13.83	5.04	2.337	6.541	18.367	0.176	0.0229136152385	0.0014	0.00139776	0.0004	0.0053	8.7e-05	0	0	0	0.0011	6.102e-05	0.0003946	61	154602	rs201341419	0.0002	0.0002	0.0002	0.0001	0.0056	0.0001	0.0001	0.0050	0.0047	0.0056	0.0003	0	0	0	0.0002	8.994e-07	0.0005	3.478e-05	0.0013	0.0013	0.0014	0.0012	0.0043	0.0011	0.0011	0.0038	0.0036	0.0043	0	0.0010	0	0	0	0	1.47e-05	0.0009	0	0.229	0.18371	T	0.375	0.16231	T	.	.	.	.	.	.	0.000100	0.51296	D	0.000000	0.999997	0.58761	D	.	.	.	1.9	0.23486	T	-4.06	0.74582	D	0.592	0.61172	-0.9315	0.43918	T	0.153	0.48188	T	10	0.0058451295	0.00130	T	0.022914	0.45849	T	0.176	0.44373	.	.	0.416707687347	0.41290	0.36134383317790886	0.36048	0.15444136996	0.17448	0.521597743034	0.41851	T	.	.	.	-0.411801	0.01934	T	-0.362658	0.37745	T	0.0871014889583181	0.10870	T	0.759324	0.38363	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40441	B	.	.	3.528214	0.49492	22.8	0.99489398759340275	0.67347	0.97311	0.73954	D	AEFBI	0.623611	0.60749	D	0.397894355747845	0.61307	4.330076	0.393029129094129	0.61134	4.309457	0.999999981964794	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.04	5.04	0.67293	6.639000	0.74170	7.592000	0.61280	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.428000	0.27405	0.0:1.0:0.0:0.0	18.367	0.90339	81	0.96616	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1559.98	33	chr3	52344587	.	C	T	1559.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.030e-01;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=0.434;SOR=0.736	GT:AD:DP:GQ:PL	0/1:55,59:114:99:1574,0,1465	20	0	1	0
chr3	52346503	52346503	G	A	exonic	DNAH1	.	nonsynonymous SNV	DNAH1:NM_015512:exon11:c.G1688A:p.S563N,	.	.	.	.	.	.	.	.	.	.	.	698205	DNAH1-related_disorder|Spermatogenic_failure_18|Ciliary_dyskinesia,_primary,_37	.|MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576|MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.38	T	0.001	B	0.003	B	0.094	N	0.797	N	1.04	L	1.91	T	-1.031	T	0.037	T	0.033	0.529	6.867	1.8	0.074	1.199	5.486	0.044	0.00518775586216	0.0014	0.00139776	0.0005	0.0062	0.0001	0	0	0	0.0014	7.184e-05	0.000401	62	154602	rs137937801	0.0002	0.0002	0.0002	0.0001	0.0057	0.0001	0.0001	0.0050	0.0048	0.0057	0.0003	0	0	0	0.0002	8.998e-07	0.0005	3.488e-05	0.0013	0.0013	0.0014	0.0012	0.0043	0.0011	0.0011	0.0038	0.0036	0.0043	0	0.0010	0	0	0	0	1.47e-05	0.0009	0	0.527	0.07093	T	0.495	0.11371	T	.	.	.	.	.	.	0.094348	0.20177	N	0.415062	0.797381	0.29155	N	.	.	.	1.91	0.23283	T	-0.71	0.20145	N	0.199	0.21969	-1.0307	0.20227	T	0.037	0.15943	T	10	0.0050469637	0.00109	T	0.005188	0.13218	T	0.044	0.11924	.	.	0.154104182512	0.14974	0.20960119001568053	0.20876	0.115579249378	0.13036	0.436621785164	0.30116	T	.	.	.	-0.654657	0.00068	T	-0.711504	0.05219	T	0.00214018928848679	0.00022	T	0.509849	0.16238	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.15385	B	.	.	0.873863	0.12466	9.001	0.55923953878162314	0.05444	0.68832	0.33952	D	AEFDGBI	0.118486	0.23166	N	-0.765771810069293	0.14209	0.7059298	-0.624626821770243	0.18861	1.009459	0.999724752130815	0.42220	0.660377	0.49826	0	0.694456	0.67091	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.57	1.8	0.24069	1.257000	0.32536	3.947000	0.40646	-0.729000	0.03740	0.998000	0.41325	1.000000	0.68203	0.641000	0.32449	0.2738:0.2567:0.4695:0.0	5.486	0.16044	81	0.96616	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1145.98	35	chr3	52346503	.	G	A	1145.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.780e-01;DP=822;ExcessHet=0.0000;FS=0.790;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=0.505;SOR=0.550	GT:AD:DP:GQ:PL	0/1:54,46:100:99:1160,0,1488	20	0	1	0
chr3	52396759	52396759	A	C	exonic	DNAH1	.	nonsynonymous SNV	DNAH1:NM_015512:exon72:c.A11572C:p.K3858Q,	.	.	.	.	.	.	.	.	.	.	.	698221	DNAH1-related_disorder|Spermatogenic_failure_18|Ciliary_dyskinesia,_primary,_37	.|MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576|MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.873	P	0.466	P	0.000	D	0.950	D	0.875	L	3.1	T	-1.048	T	0.017	T	0.26	0.475	6.576	4.34	1.824	1.799	10.248	0.093	0.00521088195977	0.0015	0.00159744	0.0005	0.0054	8.643e-05	0	0	0	0.0011	6.078e-05	0.000414	64	154602	rs186366418	0.0002	0.0002	0.0002	0.0001	0.0057	0.0001	0.0001	0.0050	0.0048	0.0057	0.0003	0	0	0	0.0002	8.994e-07	0.0005	3.478e-05	0.0013	0.0013	0.0014	0.0012	0.0043	0.0011	0.0011	0.0037	0.0035	0.0043	0	0.0010	0	0	0	0	1.47e-05	0.0009	0	0.211	0.19569	T	0.196	0.27943	T	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	0.949766	0.37666	D	.	.	.	3.1	0.08283	T	-1.46	0.35792	N	0.233	0.26233	-1.0475	0.15102	T	0.017	0.07045	T	10	0.009002477	0.00204	T	0.005211	0.13279	T	0.093	0.26882	.	.	0.27479166964	0.27093	0.521573206832978	0.52080	0.158691904084	0.17914	0.424867331982	0.28507	T	.	.	.	-0.549925	0.00292	T	-0.561201	0.16264	T	0.0184574754071888	0.00562	T	0.851115	0.53499	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.17530	B	.	.	2.679433	0.34951	19.77	0.79354679505455339	0.12704	0.48138	0.28140	N	AEFBCI	0.115131	0.22650	N	-0.153884001609759	0.35069	2.009722	-0.0516205351973261	0.37420	2.190751	0.983822673573952	0.30620	0.634777	0.41761	0	0.643519	0.57511	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.34	4.34	0.51267	0.936000	0.28536	7.884000	0.72673	0.691000	0.84096	0.685000	0.28485	1.000000	0.68203	0.970000	0.54328	0.6943:0.3057:0.0:0.0	10.248	0.42527	68	0.97118	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2347.98	44	chr3	52396759	.	A	C	2347.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.42;DP=956;ExcessHet=0.0000;FS=1.719;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=0.172;SOR=0.576	GT:AD:DP:GQ:PL	0/1:116,88:204:99:2362,0,2984	20	0	1	0
chr3	52519524	52519524	C	G	exonic	STAB1	.	nonsynonymous SNV	STAB1:NM_015136:exon50:c.C5195G:p.A1732G,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.549	N	2.775	M	-3.01	D	0.648	D	0.763	D	0.128	4.108	21.2	5.05	2.504	3.197	11.455	0.398	.	0.0078	0.00559105	0.0019	0.0214	0.0005	0	0	0	0	0.0001	0.0018046	279	154602	rs79269239	0.0007	0.0007	0.0009	0.0005	0.0261	0.0007	0.0007	0.0247	0.0241	0.0261	0.0010	0	0	0	0.0002	7.194e-06	0.0016	4.637e-05	0.0066	0.0066	0.0066	0.0065	0.0228	0.0062	0.0061	0.0216	0.0211	0.0228	0	0.0029	0	0	0	0.0068	2.94e-05	0.0014	0	0.0	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	0.549063	0.31349	N	3.145	0.88303	M	-3.01	0.92208	D	-3.52	0.68412	D	0.474	0.50958	0.648	0.92524	D	0.763	0.91949	D	10	0.009762168	0.00219	T	.	.	.	0.398	0.71242	.	.	0.904890730844	0.90394	0.7682538435714594	0.76774	0.75013627348	0.63726	0.447132259607	0.31552	T	0.348674	0.71663	T	-0.276883	0.11000	T	-0.152246	0.59044	T	0.0737526934623684	0.09168	T	0.80292	0.44963	T	0.8573494	0.87885	0.6824219	0.81334	0.8573494	0.87886	0.6824219	0.81335	-9.666	0.71888	D	.	.	0.256	0.49098	B	.	.	4.017825	0.59316	24.1	0.99461791315822234	0.65840	0.80456	0.40089	D	AEFDGBCI	0.481741	0.52291	N	0.500231548449858	0.67106	5.037359	0.348579232723479	0.58421	4.012594	0.999999973548548	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.607795	0.38427	0	0.711	0.71501	0	.	.	5.05	5.05	0.67566	5.058000	0.64127	7.407000	0.58615	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.016000	0.10718	0.0:0.9134:0.0:0.0866	11.455	0.49421	83	0.96533	FAS1 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	1244.98	42	chr3	52519524	.	C	G	1244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.249;DP=858;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=0.910;SOR=0.736	GT:AD:DP:GQ:PL	0/1:62,46:108:99:1259,0,1754	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	0/1:54,42,0:96:99:884,0,1842,1048,1967,3015	13	1	6	0
chr3	54918483	54918484	CT	-	exonic	LRTM1	.	frameshift deletion	LRTM1:NM_001304389:exon3:c.785_786del:p.E262Afs*3	.	.	435	1073	14	0	0	14	0.00648148	.	.	698260	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.00379393	0.0039	0.0064	0.0011	0.0045	0.0086	0.0028	0.0055	0.0062	0.0008068	21	26028	rs573640720	0.0024	0.0024	0.0022	0.0026	0.0070	0.0024	0.0023	0.0066	0.0064	0.0058	0.0013	0.0027	0.0053	0.0092	0.0031	0.0015	0.0034	0.0070	0.0040	0.0040	0.0033	0.0046	0.0071	0.0037	0.0036	0.0057	0.0054	0.0063	0.0011	0.0017	0.0029	0.0064	0.0105	0.0102	0.0016	0.0052	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1885.94	35	chr3	54918482	.	GCT	G	1885.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.000e-02;DP=896;ExcessHet=0.0000;FS=1.584;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.84;ReadPosRankSum=0.575;SOR=0.903	GT:AD:DP:GQ:PL	0/1:62,50:112:99:1900,0,2417	20	0	1	0
chr3	54924948	54924948	C	G	exonic	LRTM1	.	nonsynonymous SNV	LRTM1:NM_001304389:exon2:c.G47C:p.G16A	.	.	433	1080	9	0	0	9	0.00414938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.003	B	0.005	B	0.059	N	1.000	N	0.295	N	0.32	T	-1.054	T	0.080	T	0.087	-0.537	1.559	-1.95	-0.754	0.173	7.245	0.052	0.00889041164057	0.0015	0.000399361	0.0016	0.0004	0.0007	0	0.0020	0.0023	0.0011	0.0008	0.0015588	241	154602	rs141303357	0.0013	0.0013	0.0012	0.0013	0.0023	0.0012	0.0012	0.0013	0.0013	0.0002	0.0006	0.0022	0	0.0017	0.0023	0.0014	0.0012	0.0006	0.0011	0.0011	0.0009	0.0012	0.0013	0.0009	0.0009	0.0011	0.0010	0.0003	0.0011	0.0008	0.0023	0	0.0030	0.0034	0.0013	0.0024	0	0.571	0.17881	T	0.135	0.34124	T	0.003	0.11197	B	0.005	0.11217	B	0.059122	0.22347	N	0.530450	1	0.08975	N	1.405	0.35469	L	0.32	0.58468	T	-2.73	0.58085	D	0.109	0.09490	-1.0539	0.13332	T	0.080	0.31705	T	10	0.0061196685	0.00138	T	0.00889	0.23439	T	0.052	0.14661	.	.	0.419090007872	0.41522	0.3725960352696023	0.37173	0.0169315487311	0.01637	0.254844486713	0.04295	T	0.041009	0.25715	T	-0.577352	0.00200	T	-0.609367	0.12036	T	0.00429736380556554	0.00046	T	0.415458	0.16261	T	0.082700945	0.19064	0.07855556	0.17607	0.082700945	0.19063	0.07855556	0.17607	-5.132	0.38242	T	.	.	0.097	0.15788	B	.;.	.;.	-0.263049	0.02785	0.379	0.54693226151439933	0.05189	0.03713	0.08999	N	AEFI	0.061082	0.11651	N	-1.48850540022559	0.01930	0.08473331	-1.47425037255508	0.02557	0.1178209	0.999725535603872	0.42220	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.74	-1.95	0.07135	0.337000	0.19582	0.266000	0.16602	-1.101000	0.01509	0.017000	0.19353	0.001000	0.17328	0.541000	0.29961	0.0:0.2695:0.4878:0.2427	7.245	0.25290	733	0.53988	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1419.98	33	chr3	54924948	.	C	G	1419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.07;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=-5.100e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/1:68,51:119:99:1434,0,1829	20	0	1	0
chr3	65391268	65391268	T	G	exonic	MAGI1	.	nonsynonymous SNV	MAGI1:NM_001033057:exon14:c.A2290C:p.T764P	.	.	8	1462	50	2	0	54	0.018133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.973	D	0.735	P	0.005	N	0.960	D	0.09	N	2.72	T	-1.033	T	0.034	T	0.344	1.551	11.14	0.817	-0.068	-0.215	5.872	0.032	0.00554250367539	0.0019	0.00179712	0.0025	0.0004	0.0011	0	0	0.0033	0.0022	0.0038	0.0022962	355	154602	rs61740330	0.0017	0.0017	0.0015	0.0019	0.0234	0.0017	0.0017	0.0202	0.0190	0.0004	0.0014	0.0105	2.519e-05	3.744e-05	0.0234	0.0014	0.0032	0.0038	0.0016	0.0016	0.0015	0.0017	0.0031	0.0014	0.0014	0.0019	0.0016	0.0004	0	0.0019	0.0115	0	9.413e-05	0.0102	0.0019	0.0047	0.0031	0.086	0.36709	T	0.299	0.22291	T	0.0	0.57599	B	0.001	0.55480	B	0.004631	0.33547	N	0.375437	0.959861	0.38149	D	-0.135	0.04517	N	2.25	0.18875	T	0.47	0.03090	N	0.105	0.13769	-1.0333	0.19395	T	0.034	0.14726	T	10	0.0046277046	0.00096	T	0.005543	0.14288	T	0.032	0.07718	.	.	0.23798241625	0.23396	0.13796831742168336	0.13720	0.725152338694	0.62432	0.317334890366	0.13017	T	0.041969	0.26030	T	-0.525761	0.00407	T	-0.530101	0.19277	T	0.00590482259284364	0.00065	T	.	.	.	.	.	.	.	.	.	.	.	-12.517	0.87278	D	.	.	0.065	0.02399	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.980096	0.25155	16.66	0.96601938851103708	0.30409	0.52638	0.29179	D	AEFDBI	0.231897	0.35505	N	-0.698435024602363	0.16065	0.8152945	-0.620132010009374	0.18976	1.016116	0.998471281238113	0.37033	0.562547	0.31514	0	0.573888	0.26702	0	0.26897	0.05253	2	0.635551	0.53088	0	.	.	5.98	0.817	0.17914	-0.035000	0.12156	-0.272000	0.10340	0.665000	0.62972	0.814000	0.29906	0.430000	0.24851	0.993000	0.69303	0.0:0.2598:0.1263:0.614	5.872	0.18059	839	0.37672	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	1098.98	34	chr3	65391268	.	T	G	1098.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.051e+00;DP=768;ExcessHet=0.0000;FS=2.855;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=1.19;SOR=0.435	GT:AD:DP:GQ:PL	0/1:39,47:86:99:1113,0,1012	20	0	1	0
chr3	66380694	66380694	A	G	exonic	LRIG1	.	nonsynonymous SNV	LRIG1:NM_001377347:exon11:c.T1936C:p.C646R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.073	B	0.076	B	0.792	N	1.000	N	0.345	N	-0.05	T	-1.022	T	0.101	T	0.204	1.454	10.80	-0.805	-0.411	0.272	0.993	0.052	0.0283514715061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.19782	T	0.38	0.16766	T	0.042	0.23930	B	0.021	0.28435	B	0.791804	0.09391	N	0.910041	0.999998	0.08975	N	0.55	0.14455	N	-0.05	0.63568	T	-1.45	0.35597	N	0.177	0.19055	-1.0225	0.22899	T	0.101	0.37366	T	10	0.053418428	0.05529	T	0.028351	0.51038	D	0.052	0.14661	0.352	0.35084	0.0934897674506	0.08844	0.10939551410755723	0.10868	0.176924702148	0.19905	0.285977184772	0.08340	T	0.129545	0.45789	T	-0.178272	0.23992	T	-0.493852	0.22988	T	0.059298362582922	0.07058	T	.	.	.	0.068434946	0.14907	0.11672285	0.28178	0.068434946	0.14907	0.11672285	0.28177	-2.317	0.04650	T	.	.	0.384	0.58674	A	.;.	.;.	0.825025	0.11966	8.523	0.55501278704533819	0.05355	0.10588	0.16052	N	AEFDBHCI	0.085658	0.17366	N	-1.24387405285415	0.04380	0.1975921	-1.24339224503414	0.05230	0.2486767	0.999966038926282	0.48965	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.76	-0.805	0.10330	0.095000	0.14966	-0.017000	0.12978	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.458:0.1205:0.1696:0.2518	0.993	0.01369	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	0.02381	2415.98	35	chr3	66380694	.	A	G	2415.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=944;ExcessHet=0.0000;FS=2.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=-8.670e-01;SOR=0.925	GT:AD:DP:GQ:PL	0/1:97,90:187:99:2430,0,2595	20	0	1	0
chr3	69038653	69038653	G	A	exonic	TMF1	.	nonsynonymous SNV	TMF1:NM_001363879:exon8:c.C2071T:p.R691C	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.099	B	0.014	B	0.000	D	1.000	D	1.3	L	2.11	T	-1.133	T	0.032	T	0.293	2.436	14.10	5.72	2.698	2.563	13.124	0.033	0.0068481943087	0.0050	0.00279553	0.0044	0.0007	0.0007	0	0.0032	0.0062	0.0011	0.0047	0.0044889	694	154602	rs34917634	0.0054	0.0054	0.0055	0.0054	0.0063	0.0053	0.0053	0.0062	0.0061	0.0007	0.0009	0.0006	5.039e-05	0.0039	0.0005	0.0063	0.0045	0.0047	0.0036	0.0036	0.0036	0.0035	0.0064	0.0033	0.0032	0.0059	0.0057	0.0008	0.0011	0.0024	0.0009	0	0.0016	0	0.0064	0.0005	0.0035	0.087	0.32453	T	0.148	0.32675	T	0.06	0.25639	B	0.006	0.16862	B	0.000022	0.55875	D	0.148717	0.999994	0.58761	D	1.15	0.29295	L	2.11	0.19860	T	-1.6	0.38540	N	0.226	0.25377	-1.1326	0.01662	T	0.032	0.13942	T	10	0.0043610334	0.00089	T	0.006848	0.18121	T	0.033	0.08068	.	.	0.319402600006	0.31557	0.19279652059941568	0.19197	0.137519854837	0.15505	0.285906165838	0.08330	T	0.124913	0.45026	T	-0.494125	0.00617	T	-0.471521	0.25353	T	0.0098914620896819	0.00131	T	0.938506	0.78031	D	0.13417888	0.31184	0.08848774	0.20635	0.13417888	0.31184	0.08848774	0.20635	-7.66	0.58729	D	.	.	0.078	0.06990	B	.;.	.;.	3.534594	0.49613	22.8	0.99418289423085349	0.63645	0.94297	0.60718	D	AEFBI	0.601288	0.59359	D	0.0377205204651754	0.43580	2.648031	0.222291950279276	0.51087	3.29427	0.97258571776967	0.29383	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	2.631000	0.46169	5.186000	0.47881	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0732:0.0:0.9268:0.0	13.124	0.58759	503	0.75780	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1983.98	33	chr3	69038653	.	G	A	1983.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-8.880e-01;SOR=0.730	GT:AD:DP:GQ:PL	0/1:70,74:144:99:1998,0,1652	20	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S,	.	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	49921.47	133	chr3	75730451	.	T	G	49921.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.927e+00;DP=2763;ExcessHet=51.1880;FS=6.167;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=54.60;MQRankSum=-6.357e+00;QD=18.50;ReadPosRankSum=1.68;SOR=0.393	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,47:116:99:0|1:75730450_C_T:1766,0,2732:75730450	0	0	20	1
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*	.	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	13057.87	155	chr3	75736884	.	G	GA	13057.87	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.070e-01;DP=3250;ExcessHet=25.1139;FS=1.336;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=56.86;MQRankSum=-7.182e+00;QD=4.87;ReadPosRankSum=0.148;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:55,47:102:99:.:.:1217,0,2139	4	0	17	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F	.	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.024	B	0.002	B	.	.	1.000	N	0	N	3.37	T	-0.932	T	0.010	T	0.477	1.695	11.63	-0.734	-0.244	-0.140	5.509	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	30918.43	158	chr3	75736891	.	G	A	30918.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.300e-01;DP=3330;ExcessHet=43.6797;FS=1.234;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=57.04;MQRankSum=-9.187e+00;QD=9.77;ReadPosRankSum=0.205;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,52:110:99:0|1:75736891_G_A:1967,0,2255:75736891	1	0	20	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D	.	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.111	B	0.006	B	.	.	1.000	N	0	N	3.39	T	-0.948	T	0.010	T	0.567	0.479	6.601	-0.249	-0.078	-0.941	3.115	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28820.74	164	chr3	75736920	.	C	A	28820.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.130e-01;DP=3467;ExcessHet=54.0936;FS=2.025;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.55;MQRankSum=-8.791e+00;QD=8.35;ReadPosRankSum=0.030;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,43:106:99:0|1:75736891_G_A:1616,0,2516:75736891	0	0	21	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I	.	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.219	B	0.007	B	.	.	1.000	N	0	N	3.47	T	-0.947	T	0.008	T	0.512	0.877	8.556	0.364	0.148	-0.065	3.729	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28464.74	166	chr3	75736928	.	C	T	28464.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.43;DP=3516;ExcessHet=54.0936;FS=0.608;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.92;MQRankSum=-9.076e+00;QD=8.18;ReadPosRankSum=-5.000e-02;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,45:109:99:0|1:75736891_G_A:1690,0,2552:75736891	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	0/1:75,36:111:99:781,0,2162	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	0/1:83,38:121:99:896,0,2421	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	0/1:84,50:134:99:1062,0,2657	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|1:105,45:150:99:0|1:75737092_C_T:1574,0,4227:75737092	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|1:105,46:151:99:0|1:75737092_C_T:1615,0,4224:75737092	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|1:97,45:142:99:0|1:75737092_C_T:1598,0,3938:75737092	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|1:92,42:134:99:0|1:75737092_C_T:1487,0,3737:75737092	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|1:89,21:110:99:0|1:75737092_C_T:614,0,3674:75737092	0	0	21	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S	.	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.588	P	0.118	B	.	.	1.000	N	0.78	N	3.45	T	-0.962	T	0.011	T	0.402	2.344	13.80	0.281	0.088	6.618	6.406	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	84334.74	182	chr3	75737519	.	G	A	84334.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.22;DP=4534;ExcessHet=54.0936;FS=3.213;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.20;MQRankSum=-6.820e+00;QD=19.56;ReadPosRankSum=0.348;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,75:157:99:0|1:75737519_G_A:2862,0,3059:75737519	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|1:93,103:196:99:0|1:75737586_A_T:4041,0,3595:75737586	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|1:98,105:203:99:0|1:75737586_A_T:4114,0,3799:75737586	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|1:94,109:203:99:0|1:75737586_A_T:4294,0,3619:75737586	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|1:89,102:191:99:0|1:75737586_A_T:4015,0,3430:75737586	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|1:83,96:179:99:0|1:75737586_A_T:3781,0,3196:75737586	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|1:99,72:171:99:0|1:75737814_C_T:2672,0,3760:75737814	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|1:109,40:149:99:0|1:75737881_T_C:1057,0,4416:75737881	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|1:112,33:145:99:0|1:75737881_T_C:898,0,4596:75737881	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|1:112,31:143:99:0|1:75737881_T_C:846,0,4580:75737881	0	0	21	0
chr3	75737948	75737949	CT	-	exonic	ZNF717	.	frameshift deletion	ZNF717:NM_001128223:exon5:c.1674_1675del:p.E560Kfs*4	.	.	376	813	333	0	0	333	0.169985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs74340838	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0	0.0001	0	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	7.71e-05	0.0002	0.0003	8.659e-05	7.251e-05	0.0001	8.279e-05	4.816e-05	0	0.0003	0	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3726.99	218	chr3	75737947	.	CCT	C	3726.99	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.750e-01;DP=3538;ExcessHet=1.7912;FS=15.802;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=57.52;MQRankSum=-1.248e+01;QD=3.68;ReadPosRankSum=0.449;SOR=1.772	GT:AD:DP:GQ:PL	0/1:129,30:159:99:853,0,5261	15	0	6	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K	.	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.236	B	0.014	B	.	.	1.000	N	0.635	N	3.2	T	-0.977	T	0.011	T	0.371	1.043	9.260	-3.59	-1.049	-1.278	0.971	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4167	9964.28	257	chr3	75738008	.	C	T	9964.28	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-1.381e+00;DP=4529;ExcessHet=17.4423;FS=5.547;InbreedingCoeff=-0.6412;MLEAC=16;MLEAF=0.444;MQ=57.21;MQRankSum=-1.159e+01;QD=2.93;ReadPosRankSum=3.26;SOR=1.304	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,30:181:99:0|1:75737994_T_C:805,0,6205:75737994	3	0	15	3
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F	.	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.888	P	0.346	B	.	.	1.000	N	1.18	L	3.18	T	-1.017	T	0.014	T	0.416	0.583	7.147	-3.58	-1.068	-1.364	4.138	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3611	6970.11	234	chr3	75738053	.	C	A	6970.11	.	AC=13;AF=0.361;AN=36;BaseQRankSum=-2.270e+00;DP=4323;ExcessHet=11.8493;FS=4.208;InbreedingCoeff=-0.5294;MLEAC=14;MLEAF=0.389;MQ=57.15;MQRankSum=-1.006e+01;QD=2.47;ReadPosRankSum=-1.315e+00;SOR=1.290	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,24:185:99:0|1:75737994_T_C:523,0,6688:75737994	5	0	13	3
chr3	75738071	75738071	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1552C:p.C518R	.	.	356	1145	20	0	1	21	0.00865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	.	.	1.000	N	-0.87	N	3.21	T	-0.915	T	0.007	T	0.332	-1.903	0.008	-0.593	-0.086	-0.759	2.786	0.031	0.000738598015433	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78680336	1.676e-06	1.383e-06	1.643e-06	1.712e-06	2.128e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.128e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.11191	T	0.621	0.07419	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	2.23	0.00314	N	0.019	0.00279	-0.9149	0.46233	T	0.007	0.02360	T	9	0.046755195	0.03906	T	7.39E-4	0.00510	T	0.031	0.07369	.	.	0.0138822411134	0.00435	0.002225550650649705	0.00206	.	.	0.525679767132	0.42426	T	.	.	.	-0.29785	0.08864	T	-0.665617	0.07892	T	0.0535102972529573	0.06106	T	0.0253975	0.00153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.53324	B	.	.	-1.114804	0.00623	0.016	0.37644118236720736	0.02493	0.00136	0.00836	N	AEFDBHCIJ	0.016194	0.00350	N	-1.60520409349473	0.01239	0.05388159	-1.61920287810212	0.01543	0.06989911	0.999942708847049	0.47345	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-0.593	0.11083	-1.649000	0.02095	.	.	-2.516000	0.00258	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.17:0.0:0.3549:0.4751	2.786	0.05043	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2	2892.1	214	chr3	75738071	.	A	G	2892.1	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-9.740e-01;DP=3983;ExcessHet=3.5521;FS=8.270;InbreedingCoeff=-0.2377;MLEAC=8;MLEAF=0.200;MQ=57.37;MQRankSum=-1.015e+01;QD=1.67;ReadPosRankSum=-1.907e+00;SOR=1.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,18:180:99:0|1:75737994_T_C:268,0,6748:75737994	12	0	8	1
chr3	75738074	75738074	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1549T:p.R517C	.	.	352	1156	14	0	0	14	0.00601892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.001	B	.	.	1.000	N	1.21	L	3.11	T	-0.989	T	0.016	T	0.343	0.147	4.790	-3.58	-1.677	-0.063	5.171	0.059	0.00168171448549	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs370022573	2.178e-05	2.351e-05	2.299e-05	2.052e-05	7.637e-05	1.515e-05	1.287e-05	2.05e-05	1.277e-05	7.382e-05	0	0	7.637e-05	0	0	1.914e-05	0	6.214e-05	1.314e-05	2.625e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.159	0.23813	T	0.3	0.20357	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.11	0.08194	T	-0.06	0.07882	N	0.048	0.01999	-0.9892	0.32803	T	0.016	0.06569	T	9	0.03303978	0.01470	T	0.001682	0.02779	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.002613494462515561	0.00242	.	.	0.5004529953	0.38892	T	.	.	.	-0.277008	0.10988	T	-0.635679	0.09988	T	0.0130366375576749	0.00227	T	0.0907909	0.00672	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.45520	B	.	.	0.194387	0.05799	2.242	0.73132658542385853	0.10218	0.00363	0.01856	N	AEFDBHCIJ	0.023887	0.01396	N	-1.62321359239289	0.01153	0.05010462	-1.76099622892232	0.00892	0.03989968	0.999989264977476	0.51787	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-2.248000	0.01271	.	.	-5.905000	0.00006	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.629:0.1528:0.2182:0.0	5.171	0.14438	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2	1932.26	212	chr3	75738074	.	G	A	1932.26	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-9.700e-02;DP=3886;ExcessHet=3.5521;FS=8.966;InbreedingCoeff=-0.2654;MLEAC=8;MLEAF=0.200;MQ=57.53;MQRankSum=-9.911e+00;QD=1.13;ReadPosRankSum=-2.333e+00;SOR=1.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,13:183:34:0|1:75737994_T_C:34,0,7099:75737994	12	0	8	1
chr3	75738077	75738077	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1546G:p.F516V	.	.	351	1158	13	0	0	13	0.00558179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	3.56	H	0.99	T	-0.796	T	0.314	T	0.499	2.958	15.86	1.91	1.185	4.477	7.900	0.273	0.00436624551321	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78763958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.99	0.41750	T	-6.9	0.93293	D	0.254	0.28732	-0.7956	0.55403	T	0.314	0.68424	T	9	0.37955025	0.54090	T	0.004366	0.10624	T	0.273	0.58883	.	.	0.134241683229	0.13084	0.004951265273006765	0.00467	.	.	0.695522069931	0.66498	T	.	.	.	-0.0135903	0.49761	T	-0.257298	0.49093	T	0.969250798225403	0.68526	D	0.390061	0.09662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.75417	P	.	.	2.832235	0.37339	20.5	0.96884311371509557	0.31473	0.34734	0.25137	N	AEFDBHCIJ	0.282251	0.39563	N	0.258654387862171	0.54069	3.573403	-0.0427249932617247	0.37806	2.218651	0.999999981817215	0.74766	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.91	1.91	0.24841	4.720000	0.61636	.	.	0.610000	0.48991	0.993000	0.37899	0.919000	0.28284	0.003000	0.05239	1.0:0.0:0.0:0.0	7.900	0.28894	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2	1551.64	205	chr3	75738077	.	A	C	1551.64	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-1.917e+00;DP=3863;ExcessHet=3.5521;FS=11.803;InbreedingCoeff=-0.2553;MLEAC=8;MLEAF=0.200;MQ=57.57;MQRankSum=-9.670e+00;QD=0.92;ReadPosRankSum=-2.700e+00;SOR=1.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,12:178:4:0|1:75737994_T_C:4,0,6934:75737994	12	0	8	1
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	0/1:129,22:151:99:148,0,3702	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	0/1:49,29:78:99:584,0,1565	0	0	21	0
chr3	98133460	98133460	-	GGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGG:p.L255Rfs*16,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:82,0,13,1,0,0:96:99:.:.:105,265,3497,0,3240,3185,142,3406,3230,3395,265,3497,3240,3406,3497,265,3497,3240,3406,3497,3497	0	0	5	10
chr3	98133460	98133460	-	GGGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGGG:p.L255Rfs*33,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:82,0,13,1,0,0:96:99:.:.:105,265,3497,0,3240,3185,142,3406,3230,3395,265,3497,3240,3406,3497,265,3497,3240,3406,3497,3497	0	0	5	10
chr3	98133460	98133460	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C763G:p.L255V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	1.0	D	0.999	D	0.001	D	1.000	N	1.325	L	8.74	T	-0.730	T	0.001	T	0.254	0.426	6.315	3.57	1.818	-0.974	8.167	0.060	0.00117854807808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.962e-05	0.0018	9.935e-05	5.982e-05	0.0002	6.745e-05	6.308e-05	8.053e-05	7.118e-05	0.0002	0	0	2.539e-05	0	0	9.229e-05	6.835e-05	3.522e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.161	0.31326	T	1.0	0.90584	D	0.999	0.92359	D	0.000719	0.42254	D	0.000000	1	0.08975	N	1.055	0.26876	L	8.74	0.00084	T	-2.84	0.59873	D	0.082	0.05799	-0.7301	0.58959	T	0.001	0.00287	T	10	0.22429666	0.39230	T	0.001179	0.01509	T	0.060	0.17295	0.371	0.38176	0.298745278005	0.29478	0.048044440119727576	0.04747	0.654731206335	0.58542	0.272874593735	0.06519	T	0.007249	0.06665	T	-0.259952	0.12906	T	-0.61118	0.11889	T	0.845799565315247	0.49807	D	0.80082	0.44648	T	0.1752088	0.38366	0.14435342	0.34275	0.1752088	0.38366	0.14435342	0.34274	-3.447	0.15697	T	.	.	0.132	0.28492	B	.;.	.;.	2.299242	0.29417	18.12	0.98981953560601799	0.49760	0.02367	0.06739	N	AEFI	0.059639	0.11279	N	-0.196966090587521	0.33261	1.884947	-0.353468082146493	0.26402	1.458076	1.0108118885271E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	3.57	0.40014	-0.690000	0.05240	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.078000	0.17132	0.2395:0.7605:0.0:0.0	8.167	0.30391	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:82,0,13,1,0,0:96:99:.:.:105,265,3497,0,3240,3185,142,3406,3230,3395,265,3497,3240,3406,3497,265,3497,3240,3406,3497,3497	0	0	5	10
chr3	98133460	98133460	-	GTGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGTGG:p.L255Rfs*16,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:82,0,13,1,0,0:96:99:.:.:105,265,3497,0,3240,3185,142,3406,3230,3395,265,3497,3240,3406,3497,265,3497,3240,3406,3497,3497	0	0	5	10
chr3	98133460	98133460	-	GGTGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGTGG:p.L255Rfs*33,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:82,0,13,1,0,0:96:99:.:.:105,265,3497,0,3240,3185,142,3406,3230,3395,265,3497,3240,3406,3497,265,3497,3240,3406,3497,3497	0	0	5	10
chr3	98133463	98133463	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C766G:p.L256V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.005	B	0.053	B	0.261	N	1.000	N	1.715	L	0.99	T	-1.004	T	0.079	T	0.179	-0.795	0.690	0.621	0.219	-0.776	1.131	0.026	0.00126498386421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.068	0.44106	T	0.005	0.12996	B	0.053	0.25678	B	0.261193	0.15311	N	0.542116	1	0.08975	N	0.915	0.23335	L	0.99	0.41750	T	-2.16	0.48850	N	0.126	0.11912	-1.0038	0.28814	T	0.079	0.31466	T	10	0.049896806	0.04644	T	0.001265	0.01708	T	0.026	0.05648	0.296	0.26041	0.128392430309	0.12331	0.03494044702375308	0.03441	0.301753269651	0.32506	0.278658390045	0.07306	T	0.006	0.05345	T	-0.262441	0.12617	T	-0.614755	0.11603	T	0.125886231660843	0.14996	T	0.469153	0.13854	T	0.1777599	0.38759	0.102822304	0.24655	0.1777599	0.38758	0.102822304	0.24654	-4.104	0.25349	T	.	.	0.129	0.31151	B	.;.	.;.	1.199857	0.15918	12.19	0.77165719573394564	0.11763	0.00876	0.03464	N	AEFI	0.031298	0.03314	N	-1.1071760963484	0.06514	0.3000934	-1.14194788532371	0.06913	0.3344078	1.71832632022719E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	0.621	0.16817	-1.594000	0.02198	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.108000	0.18652	0.1779:0.4335:0.1738:0.2148	1.131	0.01639	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	2747.51	121	chr3	98133463	.	C	G,T	2747.51	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=-4.760e+00;DP=1685;ExcessHet=2.5830;FS=151.643;InbreedingCoeff=-0.1887;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=3.50;ReadPosRankSum=2.02;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,15,0:95:99:0|1:98133463_C_G:121,0,3101,360,3145,3505:98133463	14	0	6	0
chr3	98133463	98133463	C	T	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C766T:p.L256F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.026	B	0.119	B	0.261	N	1.000	N	0.865	L	0.99	T	-1.030	T	0.062	T	0.114	-1.253	0.050	0.621	0.219	-0.776	1.131	0.024	0.00115650910057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.841e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	0.12305	T	0.41	0.14544	T	0.026	0.19406	B	0.119	0.32162	B	0.261193	0.15311	N	0.542116	1	0.08975	N	-0.23	0.03940	N	0.99	0.41750	T	-1.08	0.28084	N	0.105	0.08925	-1.0300	0.20454	T	0.062	0.25708	T	10	0.04290554	0.03085	T	0.001157	0.01459	T	0.024	0.04979	0.375	0.38830	0.0762999501168	0.06990	0.0487108067063726	0.04814	0.321367064236	0.34338	0.290525436401	0.08999	T	0.00438	0.03788	T	-0.322622	0.06685	T	-0.701201	0.05761	T	0.424735397100449	0.29866	T	0.652935	0.26315	T	0.046653233	0.07844	0.04369084	0.05494	0.046653233	0.07844	0.04369084	0.05494	-3.928	0.22723	T	.	.	0.131	0.34004	B	.;.	.;.	0.632429	0.10007	6.762	0.62397499402890433	0.06952	0.02895	0.07685	N	AEFI	0.070478	0.13993	N	-1.21870644392077	0.04729	0.2140418	-1.22146664885687	0.05566	0.2655665	1.71832632022719E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	0.621	0.16817	-1.594000	0.02198	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.108000	0.18652	0.1779:0.4335:0.1738:0.2148	1.131	0.01639	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	2747.51	121	chr3	98133463	.	C	G,T	2747.51	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=-4.760e+00;DP=1685;ExcessHet=2.5830;FS=151.643;InbreedingCoeff=-0.1887;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=3.50;ReadPosRankSum=2.02;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,15,0:95:99:0|1:98133463_C_G:121,0,3101,360,3145,3505:98133463	14	0	6	0
chr3	98901130	98901130	G	C	exonic	DCBLD2	.	nonsynonymous SNV	DCBLD2:NM_080927:exon1:c.C197G:p.A66G,	.	.	373	1147	2	0	0	2	0.00087108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.002	B	0.002	B	0.006	N	0.832	N	0.345	N	-2.7	D	-0.658	T	0.348	T	0.099	3.327	17.19	2.21	0.587	1.410	7.921	0.190	0.0342321694787	0.0020	0.00279553	0.0013	0.0050	0	0	0	0.0018	0	0	0.0005304	82	154602	rs202016309	0.0009	0.0008	0.0009	0.0008	0.0084	0.0008	0.0008	0.0076	0.0073	0.0084	0.0021	0.0083	0	0.0010	0.0032	0.0004	0.0026	1.263e-05	0.0036	0.0036	0.0036	0.0035	0.0096	0.0033	0.0032	0.0088	0.0085	0.0096	0	0.0039	0.0121	0	0.0008	0	0.0004	0.0028	0	0.487	0.11478	T	0.228	0.25438	T	0.0	0.09854	B	0.001	0.06944	B	0.006171	0.32222	N	0.287002	0.831611	0.28752	N	0.805	0.20218	L	-2.7	0.90509	D	-0.87	0.23590	N	0.219	0.36779	-0.6585	0.62342	T	0.348	0.71249	T	10	0.0072111487	0.00164	T	0.034232	0.55532	D	0.190	0.46781	.	.	0.798341152803	0.79646	0.565463091107539	0.56473	0.213371676131	0.23852	0.518393456936	0.41400	T	0.002576	0.01964	T	-0.397806	0.02393	T	-0.338647	0.40496	T	0.0256572481901264	0.01359	T	0.60284	0.22604	T	0.07303424	0.16292	0.0696754	0.14711	0.07303424	0.16292	0.0696754	0.14710	-5.321	0.40464	T	.	.	0.086	0.14062	B	.;.	.;.	3.022234	0.40455	21.2	0.99595806326443526	0.73866	0.61042	0.31369	D	ALL	0.097588	0.19680	N	-0.546318801668653	0.20599	1.087102	-0.405470259331075	0.24836	1.36229	0.999999999982617	0.74766	0.441713	0.08003	0	0.218748	0.04544	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.15	2.21	0.27042	1.427000	0.34489	.	.	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.2564:0.7436:0.0	7.921	0.29010	822	0.40702	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	565.98	33	chr3	98901130	.	G	C	565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.130e-01;DP=742;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=-5.500e-02;SOR=0.545	GT:AD:DP:GQ:PL	0/1:23,23:46:99:580,0,638	20	0	1	0
chr3	101244073	101244073	G	A	exonic	IMPG2	.	nonsynonymous SNV	IMPG2:NM_016247:exon13:c.C2258T:p.S753L,	Macular dystrophy, vitelliform, 5, Autosomal dominant;Retinitis pigmentosa 56, Autosomal recessive	.	0	1512	10	0	0	10	0.00329598	.	.	795297	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.005	B	0.004	B	0.728	N	1.000	N	0.895	L	1.98	T	-1.042	T	0.044	T	0.201	1.035	9.229	4.09	1.496	1.287	9.364	0.060	0.00418197860985	7.7e-05	0.000199681	0.0003	0	0	0	0	0.0003	0.0011	0.0012	0.0002911	45	154602	rs200818740	0.0003	0.0003	0.0003	0.0004	0.0029	0.0003	0.0003	0.0019	0.0015	0	6.708e-05	0	0	0	0.0029	0.0003	0.0005	0.0013	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0001	0.0007	0.0005	2.405e-05	0	0.0003	0.0003	0	0	0	0.0003	0.0005	0.0014	0.004	0.65419	D	0.304	0.20100	T	0.005	0.12996	B	0.004	0.10090	B	0.727817	0.06351	N	1.155940	1	0.08975	N	0.975	0.24501	L	1.98	0.21865	T	-2.55	0.55181	D	0.174	0.18649	-1.0415	0.16860	T	0.044	0.18906	T	10	0.015675575	0.00329	T	0.004182	0.10058	T	0.060	0.17295	.	.	0.251116650651	0.24721	0.3066557227337718	0.30578	0.0631969262853	0.07035	0.322415411472	0.13786	T	0.03956	0.25230	T	-0.509833	0.00503	T	-0.555557	0.16796	T	0.0437377497545454	0.04373	T	0.746525	0.36724	T	0.078730166	0.17946	0.12932132	0.31097	0.078730166	0.17945	0.12932132	0.31096	-4.152	0.26053	T	0.28040452191622073	0.37561	0.089	0.12132	B	.	.	2.128451	0.27094	17.35	0.99117944481534981	0.52906	0.44387	0.27307	N	AEFDGBIJ	0.060563	0.11517	N	-0.525510042491082	0.21258	1.126818	-0.458526884533021	0.23307	1.270346	0.999907873422862	0.45458	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.88	4.09	0.47038	2.048000	0.40903	5.810000	0.50000	0.676000	0.76740	0.784000	0.29521	1.000000	0.68203	0.053000	0.15439	0.1639:0.0:0.8361:0.0	9.364	0.37377	279	0.89001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3014.98	34	chr3	101244073	.	G	A	3014.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.512e+00;DP=968;ExcessHet=0.0000;FS=0.968;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.11;ReadPosRankSum=0.055;SOR=0.624	GT:AD:DP:GQ:PL	0/1:128,121:249:99:3029,0,3580	20	0	1	0
chr3	105702188	105702188	C	G	exonic	CBLB	.	nonsynonymous SNV	CBLB:NM_001321796:exon11:c.G1718C:p.S573T	.	.	426	1071	25	0	0	25	0.0115367	.	.	137562	not_provided|CBLB-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	0.004	N	1.000	N	1.67	L	-1.1	T	-0.612	T	0.301	T	0.053	-0.300	2.568	3.83	0.705	0.429	2.526	0.177	.	0.0052	0.00379393	0.0060	0.0019	0.0012	0	0.0073	0.0085	0.0088	0.0041	0.005692	880	154602	rs41302192	0.0067	0.0067	0.0066	0.0068	0.0104	0.0066	0.0066	0.0083	0.0075	0.0012	0.0017	0.0083	0	0.0091	0.0104	0.0073	0.0063	0.0053	0.0046	0.0046	0.0046	0.0046	0.0072	0.0043	0.0042	0.0067	0.0065	0.0011	0	0.0018	0.0063	0	0.0064	0.0034	0.0072	0.0085	0.0048	0.407	0.10245	T	0.337	0.18178	T	0.0	0.02946	B	0.0	0.04355	B	0.004302	0.33881	N	0.346231	1	0.08975	N	1.355	0.33814	L	-1.76	0.83737	D	-0.29	0.12283	N	0.084	0.10483	-0.6124	0.64304	T	0.301	0.67186	T	10	0.0064592063	0.00146	T	.	.	.	0.177	0.44549	.	.	0.44573540394	0.44196	.	.	0.0470032956978	0.05119	0.456803798676	0.32873	T	0.253633	0.62419	T	-0.500997	0.00564	T	-0.486875	0.23719	T	0.00121471077387261	0.00012	T	0.723828	0.33737	T	0.033285264	0.03517	0.028132526	0.01023	0.033285264	0.03517	0.028132526	0.01022	-4.025	0.24177	T	.	.	0.062	0.04198	B	.;.;.;.	.;.;.;.	1.416433	0.18325	13.67	0.71180703599064998	0.09542	0.05685	0.11604	N	AEFBI	0.022585	0.01147	N	-0.503872334760908	0.21955	1.168897	-0.45590956545705	0.23382	1.274778	0.0083881976940182	0.11666	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.67	3.83	0.43287	0.588000	0.23626	2.743000	0.34477	0.512000	0.23348	0.016000	0.19238	1.000000	0.68203	0.477000	0.28498	0.1415:0.4284:0.2742:0.1559	2.526	0.04405	953	0.10115	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1877.98	33	chr3	105702188	.	C	G	1877.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.93;DP=903;ExcessHet=0.0000;FS=2.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.32;ReadPosRankSum=-5.530e-01;SOR=0.518	GT:AD:DP:GQ:PL	0/1:108,74:182:99:1892,0,2650	20	0	1	0
chr3	112045922	112045922	A	C	exonic	TMPRSS7	.	nonsynonymous SNV	TMPRSS7:NM_001366279:exon3:c.A259C:p.M87L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.001	B	0.001	B	.	.	0.600	D	0	N	1.54	T	-0.992	T	0.029	T	0.284	1.266	10.13	2.62	0.450	4.469	6.836	0.083	0.00397202801934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.429e-06	1.368e-06	1.41e-06	1.449e-06	2.798e-05	2.4e-07	9e-08	.	.	0	0	0	2.798e-05	0	0	9.268e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.694	0.30515	T	1.0	0.92824	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	0.599656	0.32527	D	1.78	0.46185	L	1.54	0.30133	T	-0.63	0.42191	N	0.212	0.24385	-0.9924	0.31985	T	0.029	0.12541	T	9	0.12578726	0.23907	T	0.003972	0.09400	T	0.083	0.24192	0.438	0.49157	0.337378238328	0.33340	0.2620868025208595	0.26121	0.06861527833	0.07686	0.593830227852	0.52034	T	0.008146	0.07496	T	-0.196443	0.21319	T	-0.519953	0.20300	T	0.218978621948458	0.21413	T	0.746525	0.36724	T	0.08349301	0.19283	0.120602556	0.29105	0.08349301	0.19283	0.120602556	0.29104	-1.671	0.03997	T	.	.	0.125	0.47349	B	.;.;.;.	.;.;.;.	2.066850	0.26282	17.06	0.816708228257637	0.13801	0.95967	0.66935	D	AEFGI	0.551689	0.56366	D	-0.528437191765519	0.21165	1.121231	-0.316326976694722	0.27570	1.530826	0.0861242388140467	0.16000	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.06	2.62	0.30337	4.685000	0.61381	3.945000	0.40631	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.6953:0.1558:0.0:0.1489	6.836	0.23118	714	0.56256	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	0	0	0	0	0.02381	1924.98	34	chr3	112045922	.	A	C	1924.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.068;DP=825;ExcessHet=0.0000;FS=2.345;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.92;ReadPosRankSum=1.79;SOR=0.480	GT:AD:DP:GQ:PL	0/1:55,74:129:99:1939,0,1425	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	1/1:0,74,0,0,0,0:74:99:3168,223,0,3168,223,3168,3168,223,3168,3168,3168,223,3168,3168,3168,3168,223,3168,3168,3168,3168	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	1/1:0,74,0,0,0,0:74:99:3168,223,0,3168,223,3168,3168,223,3168,3168,3168,223,3168,3168,3168,3168,223,3168,3168,3168,3168	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	1/1:0,74,0,0,0,0:74:99:3168,223,0,3168,223,3168,3168,223,3168,3168,3168,223,3168,3168,3168,3168,223,3168,3168,3168,3168	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	1/1:0,74,0,0,0,0:74:99:3168,223,0,3168,223,3168,3168,223,3168,3168,3168,223,3168,3168,3168,3168,223,3168,3168,3168,3168	0	4	0	0
chr3	113658303	113658303	C	A	exonic	USF3	.	nonsynonymous SNV	USF3:NM_001009899:exon7:c.G3379T:p.V1127L,	.	.	431	1081	10	0	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.022	B	0.006	B	0.441	N	1.000	N	0.345	N	2.53	T	-1.050	T	0.022	T	0.2	1.661	11.51	4.5	2.560	2.392	10.372	0.033	0.0042494338169	0.0007	0.000199681	0.0013	0.0001	0.0006	0	0.0002	0.0011	0	0.0040	0.0001035	16	154602	rs190594852	0.0008	0.0008	0.0007	0.0010	0.0049	0.0008	0.0008	0.0035	0.0034	0.0005	0.0010	0.0050	2.519e-05	9.363e-05	0.0049	0.0005	0.0011	0.0038	0.0006	0.0006	0.0005	0.0008	0.0031	0.0005	0.0005	0.0019	0.0016	4.81e-05	0	0.0005	0.0040	0.0004	0.0002	0	0.0007	0.0014	0.0031	0.1	0.30515	T	0.038	0.51421	D	.	.	.	.	.	.	0.441325	0.12623	N	0.751809	1	0.81001	D	.	.	.	2.53	0.14038	T	-0.06	0.07882	N	0.136	0.19459	-1.0498	0.14453	T	0.022	0.09421	T	10	0.0076808333	0.00175	T	0.004249	0.10278	T	0.033	0.08068	0.288	0.24761	0.043077524339	0.03247	0.16506269001789767	0.16426	0.0994875839589	0.11235	0.402110487223	0.25363	T	.	.	.	-0.560605	0.00252	T	-0.577917	0.14731	T	0.0159754041792769	0.00379	T	0.841716	0.51747	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.43693	B	.;.	.;.	2.903746	0.38494	20.7	0.9818134986408128	0.38950	0.79574	0.39457	D	AEFBI	0.093859	0.18985	N	-0.162564984188763	0.34702	1.983933	0.0447674087125668	0.41820	2.518851	0.987002273272507	0.31166	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.43	4.5	0.54382	2.416000	0.44298	3.351000	0.37785	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.987000	0.62547	0.1826:0.6966:0.1208:0.0	10.372	0.43243	439	0.80177	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2400.98	41	chr3	113658303	.	C	A	2400.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.387;DP=1567;ExcessHet=0.0000;FS=1.895;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=-2.920e-01;SOR=0.552	GT:AD:DP:GQ:PL	0/1:80,90:170:99:2415,0,2128	20	0	1	0
chr3	113904197	113904197	G	T	exonic	GRAMD1C	.	nonsynonymous SNV	GRAMD1C:NM_001172105:exon3:c.G99T:p.K33N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.18	B	0.03	B	0.026	N	1.000	D	1.895	L	1.4	T	-1.031	T	0.120	T	0.122	2.508	14.35	-1.3	-0.159	0.934	6.048	0.096	0.00894242003684	.	.	8.247e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs763142006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.41915	T	0.223	0.58613	T	0.18	0.29046	B	0.03	0.21741	B	0.026485	0.01650	N	2.250090	0.999931	0.51612	D	.	.	.	1.4	0.53088	T	-1.91	0.48850	N	0.179	0.23253	-1.0307	0.20227	T	0.120	0.41907	T	10	0.123699516	0.23486	T	0.008942	0.23559	T	0.096	0.27654	0.197	0.10975	0.306695030598	0.30287	0.18577776860932904	0.18495	0.21833863742	0.24371	0.47272670269	0.35055	T	0.013021	0.13807	T	-0.187029	0.22696	T	-0.50643	0.21683	T	0.46289125084877	0.31271	T	0.766723	0.39447	T	0.11931122	0.28096	0.10249067	0.24565	0.11931122	0.28096	0.10249067	0.24565	-3.789	0.25863	T	.	.	0.194	0.49759	B	.;.;.;.	.;.;.;.	2.630716	0.34205	19.56	0.99532164690393721	0.69963	0.50845	0.28757	D	AEFI	0.156606	0.28200	N	-0.415242632139436	0.24934	1.349937	-0.345296575005169	0.26655	1.473697	1.2324373963743E-4	0.05386	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.72	-1.3	0.08777	1.240000	0.32334	1.576000	0.27446	0.676000	0.76740	0.984000	0.35821	1.000000	0.68203	0.998000	0.85391	0.4609:0.1343:0.4048:0.0	6.048	0.18997	591	0.68823	.;.;.;.	.	.	.	.	.	Uncertain significance	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	766.98	35	chr3	113904197	.	G	T	766.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.100e-01;DP=798;ExcessHet=0.0000;FS=0.801;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.91;ReadPosRankSum=-8.520e-01;SOR=0.843	GT:AD:DP:GQ:PL	0/1:61,36:97:99:781,0,1550	20	0	1	0
chr3	122613147	122613147	C	T	exonic	PARP15	.	nonsynonymous SNV	PARP15:NM_001113523:exon4:c.C650T:p.A217V,	.	.	430	1075	15	2	0	19	0.0087598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.818	P	0.395	B	0.348	N	1.000	N	1.995	M	1.92	T	-1.066	T	0.040	T	0.247	3.899	19.82	0.533	-0.077	-0.555	3.627	0.050	.	0.0035	0.00359425	0.0052	0.0005	0.0098	0	0.0068	0.0078	0.0082	0.0033	0.0018305	283	154602	rs115391654	0.0061	0.0059	0.0062	0.0061	0.0091	0.0060	0.0060	0.0071	0.0064	0.0007	0.0061	0.0147	0	0.0096	0.0091	0.0062	0.0069	0.0038	0.0059	0.0060	0.0058	0.0060	0.0083	0.0056	0.0055	0.0071	0.0067	0.0015	0.0450	0.0083	0.0138	0	0.0105	0.0136	0.0070	0.0123	0.0019	0.237	0.17881	T	0.278	0.21812	T	.	.	.	.	.	.	0.347510	0.13867	N	0.539912	1	0.08975	N	2.35	0.67516	M	1.92	0.23082	T	-1.49	0.36385	N	0.148	0.15046	-1.0660	0.10316	T	0.040	0.17191	T	10	0.0022678673	0.00033	T	.	.	.	0.050	0.13987	.	.	0.277730125212	0.27379	0.14178615770318756	0.14101	0.0566026910345	0.06256	0.252531707287	0.04039	T	0.00353	0.02940	T	-0.529994	0.00384	T	-0.528386	0.19448	T	0.017890880099826	0.00516	T	0.687331	0.29630	T	0.0743932	0.16690	0.07561885	0.16665	0.0743932	0.16690	0.07561885	0.16665	-5.407	0.40987	T	.	.	0.119	0.24599	B	.	.	1.252682	0.16495	12.58	0.99735775136355387	0.83119	0.04654	0.10327	N	AEFBI	0.088611	0.17964	N	-0.403587424533961	0.25344	1.375038	-0.544282870239029	0.20957	1.13152	0.783110904757448	0.23880	0.722319	0.85440	0	0.698795	0.70079	0	0.547309	0.15389	0	0.566403	0.31848	0	.	.	4.61	0.533	0.16315	-0.628000	0.05611	-1.072000	0.06417	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.986000	0.61781	0.4239:0.3566:0.1379:0.0815	3.627	0.07659	498	0.76166	Macro domain|Macro domain|Macro 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	2115.98	33	chr3	122613147	.	C	T	2115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.328e+00;DP=914;ExcessHet=0.0000;FS=4.989;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=-2.870e-01;SOR=0.781	GT:AD:DP:GQ:PL	0/1:98,94:192:99:2130,0,2362	20	0	1	0
chr3	126418713	126418713	G	A	exonic	CFAP100	.	nonsynonymous SNV	CFAP100:NM_182628:exon7:c.G589A:p.A197T,	.	.	425	1080	16	1	0	18	0.00826446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.998	D	0.85	P	0.286	N	1.000	N	2.235	M	2.28	T	-1.057	T	0.050	T	0.132	1.914	12.36	0.679	-0.202	1.273	4.227	0.049	.	0.0037	0.00279553	0.0075	0.0017	0.0105	0	0.0069	0.0100	0.0053	0.0048	0.0001153	3	26028	rs149511023	0.0055	0.0055	0.0055	0.0055	0.0077	0.0054	0.0054	0.0059	0.0059	0.0009	0.0065	0.0060	7.736e-05	0.0032	0.0077	0.0061	0.0062	0.0031	0.0044	0.0044	0.0045	0.0043	0.0076	0.0041	0.0040	0.0065	0.0060	0.0015	0	0.0076	0.0049	0	0.0024	0.0102	0.0061	0.0095	0.0027	0.017	0.51248	D	0.263	0.22828	T	0.998	0.73220	D	0.85	0.60657	P	0.286082	0.14855	N	0.682987	1	0.08975	N	.	.	.	2.28	0.17271	T	-2.92	0.61129	D	0.129	0.15328	-1.0573	0.12439	T	0.050	0.21456	T	10	0.00462386	0.00096	T	.	.	.	0.049	0.13647	.	.	0.136095386433	0.13204	0.19390678271095096	0.19308	0.264256805496	0.28972	0.277752429247	0.07181	T	0.034775	0.23458	T	-0.582601	0.00186	T	-0.605777	0.12330	T	0.0173980873959202	0.00478	T	0.651635	0.26249	T	0.15988533	0.35891	0.20279093	0.44325	0.15988533	0.35890	0.20279093	0.44324	-5.184	0.38778	T	.	.	0.122	0.25462	B	.;.	.;.	2.171061	0.27664	17.54	0.99656226662988801	0.77631	0.25539	0.22729	N	AEFDBI	0.054688	0.09965	N	-0.221663362836755	0.32246	1.816489	-0.43193014310853	0.24065	1.315811	0.0580696737494289	0.15114	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.91	0.679	0.17141	1.656000	0.36971	2.110000	0.30654	0.618000	0.50648	0.255000	0.24900	0.964000	0.29435	0.005000	0.06747	0.1903:0.0:0.4686:0.3412	4.227	0.10038	864	0.32732	Domain of unknown function DUF4200;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	920.98	34	chr3	126418713	.	G	A	920.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.344;DP=760;ExcessHet=0.0000;FS=1.935;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=0.050;SOR=0.458	GT:AD:DP:GQ:PL	0/1:35,38:73:99:935,0,808	20	0	1	0
chr3	126642109	126642109	T	A	exonic	TXNRD3	.	unknown	UNKNOWN,	.	.	432	1079	11	0	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.565	H	0.62	T	0.008	D	0.402	T	0.703	4.340	22.8	5.57	2.141	7.495	13.731	0.663	.	.	0.000399361	0.0023	0	0	0	0	0.0002	0.0052	0.0043	0.0002717	42	154602	rs183140827	0.0003	0.0003	0.0002	0.0005	0.0045	0.0003	0.0003	0.0041	0.0039	0.0002	2.806e-05	0	0	0	0.0026	7.415e-05	0.0003	0.0045	0.0002	0.0002	0.0002	0.0002	0.0035	0.0002	0.0001	0.0022	0.0018	0	0	6.533e-05	0	0	0	0.0034	0.0002	0.0009	0.0035	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	0.000000	0.84330	D	0.089281	.	.	.	4.66	0.99393	H	.	.	.	.	.	.	0.782	0.77883	0.008	0.82421	D	0.402	0.75317	T	10	0.036937177	0.02019	T	.	.	.	0.663	0.87430	.	.	0.498194598333	0.49456	.	.	.	.	0.673499047756	0.63337	T	0.241434	0.60997	T	-0.07488	0.40543	T	0.119793	0.78222	D	0.392527883578824	0.28660	T	0.988001	0.95955	D	0.7216076	0.79251	0.3501183	0.60626	0.7216076	0.79252	0.3501183	0.60626	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.871275	0.79804	27.2	0.99594991445059777	0.73866	0.97168	0.73090	D	AEFBI	0.877424	0.80204	D	0.873724760962892	0.90415	10.39335	0.781568856875248	0.88483	9.599296	0.999999827671583	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.57	5.57	0.84021	7.832000	0.84935	7.693000	0.65888	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	13.731	0.62269	869	0.31655	.;.;.;FAD/NAD(P)-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1673.98	33	chr3	126642109	.	T	A	1673.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.579e+00;DP=830;ExcessHet=0.0000;FS=3.106;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-2.650e-01;SOR=0.473	GT:AD:DP:GQ:PL	0/1:65,69:134:99:1688,0,1607	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	0/1:73,19:92:28:.:.:28,0,1690	7	0	14	0
chr3	128965652	128965652	G	T	exonic	CFAP92	.	nonsynonymous SNV	CFAP92:NM_001348520:exon8:c.C339A:p.N113K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs147658946	0.0017	0.0007	0.0018	0.0016	0.0020	0.0016	0.0015	0.0015	0.0014	0.0001	0	0	0.0020	0.0142	0.0008	0.0004	0.0005	0	0.0014	0.0014	0.0008	0.0020	0.0015	0.0012	0.0012	0.0008	0.0006	2.409e-05	0	6.557e-05	0	0.0015	0.0155	0	0.0005	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011046499	0.00243	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.49731	B	.	.	1.132705	0.15196	11.66	0.83600026249711112	0.14815	0.02733	0.07404	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.0342426771913618	0.14145	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.058706	0.01089	0	0.314325	0.35263	5.48	2.3	0.27735	0.363000	0.20037	0.977000	0.23099	0.618000	0.50648	0.627000	0.27974	0.187000	0.23467	0.996000	0.76049	0.1016:0.1538:0.5081:0.2366	2.631	0.04644	608	0.67185	.	.	.	.	.	rs147658946	Uncertain significance	0	0	0	0	0	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	1616.98	33	chr3	128965652	.	G	T	1616.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=847;ExcessHet=0.0000;FS=2.286;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=0.262;SOR=0.507	GT:AD:DP:GQ:PL	0/1:71,62:133:99:1631,0,1853	20	0	1	0
chr3	129586616	129586616	C	A	exonic	PLXND1	.	nonsynonymous SNV	PLXND1:NM_015103:exon3:c.G1592T:p.G531V,	.	.	419	1102	1	0	0	1	0.000453515	.	.	733787	not_provided|PLXND1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.22	T	0.536	P	0.118	B	0.011	N	0.999	D	0.895	L	3.49	T	-0.858	T	0.009	T	0.558	1.552	11.14	3.76	0.943	1.960	8.516	0.107	.	0.0006	0.00339457	0.0048	0.0003	0	0.0242	0.0510	0.0047	0.0041	0.0007	0.0019405	300	154602	rs117182497	0.0013	0.0013	0.0013	0.0013	0.0141	0.0013	0.0012	0.0131	0.0128	3.027e-05	0.0005	0.0103	0.0141	0.0099	0.0003	0.0004	0.0020	0.0005	0.0018	0.0018	0.0013	0.0022	0.0160	0.0016	0.0015	0.0133	0.0122	9.63e-05	0	0.0005	0.0072	0.0160	0.0085	0	0.0007	0.0014	0.0012	0.131	0.26629	T	0.163	0.58613	T	0.536	0.37827	P	0.118	0.32088	B	0.010664	0.29831	N	0.344703	0.999377	0.46831	D	0.345	0.11182	N	3.49	0.05071	T	-1.6	0.48523	N	0.435	0.47395	-0.8575	0.51441	T	0.009	0.03140	T	10	0.0061834455	0.00139	T	.	.	.	0.107	0.30369	.	.	0.282416095408	0.27849	0.6408337116466017	0.64018	0.38299773621	0.39630	0.375565797091	0.21627	T	0.213901	0.57534	T	-0.472195	0.00824	T	-0.436115	0.29244	T	0.0107850423097429	0.00153	T	0.911709	0.68653	D	0.142255	0.32745	0.11675826	0.28185	0.142255	0.32744	0.11675826	0.28184	-6.901	0.53306	T	.	.	0.256	0.49117	B	.;.	.;.	3.057364	0.41045	21.3	0.98019374290208461	0.37620	0.51770	0.28973	D	AEFGBHCI	0.194609	0.32168	N	-0.489005837721391	0.22440	1.198262	-0.498418451991287	0.22197	1.204477	0.999999999946181	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.64	3.76	0.42368	2.120000	0.41591	3.928000	0.40516	0.580000	0.29708	0.423000	0.26353	0.237000	0.23824	0.712000	0.34516	0.0:0.6331:0.28:0.0868	8.516	0.32407	548	0.72362	Sema domain;Sema 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	2031.98	34	chr3	129586616	.	C	A	2031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=852;ExcessHet=0.0000;FS=0.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=1.37;SOR=0.598	GT:AD:DP:GQ:PL	0/1:78,76:154:99:2046,0,1919	20	0	1	0
chr3	129977080	129977080	G	A	exonic	TRH	.	nonsynonymous SNV	TRH:NM_007117:exon3:c.G593A:p.G198E,	Thyrotropin-releasing hormone deficiency, Autosomal recessive	.	10	1511	1	0	0	1	0.000330797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.016	B	0.045	B	0.000	N	1.000	N	0.55	N	1.14	T	-1.043	T	0.046	T	0.167	-1.197	0.074	1.63	0.605	0.448	5.824	0.033	0.00717964593594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.914e-07	6.841e-07	0	1.393e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.681e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	0.16038	T	1.0	0.01155	T	0.016	0.17332	B	0.045	0.24526	B	0.000407	0.44736	N	0.225099	0.999837	0.20152	N	1.285	0.32305	L	1.14	0.38397	T	-0.11	0.08653	N	0.109	0.10198	-1.0429	0.16443	T	0.046	0.19720	T	10	0.08925909	0.15446	T	0.00718	0.19034	T	0.033	0.08068	0.606	0.73825	0.330589388543	0.32661	0.03230142106334254	0.03178	0.135011463616	0.15216	0.521457314491	0.41832	T	0.162366	0.50700	T	-0.222216	0.17692	T	-0.556975	0.16663	T	0.0621857866644859	0.07508	T	0.583942	0.21221	T	0.04781679	0.08234	0.072394714	0.15614	0.04781679	0.08234	0.072394714	0.15613	-4.698	0.33380	T	.	.	0.103	0.18331	B	.;.	.;.	1.234977	0.16299	12.45	0.33112039275101424	0.01955	0.14104	0.18224	N	AEFDBI	0.041820	0.06409	N	-0.973706409188998	0.09168	0.4327923	-0.928157764123229	0.11431	0.582307	0.394938627063158	0.20080	0.582742	0.33608	0	0.563428	0.19063	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	4.94	1.63	0.22882	0.801000	0.26716	2.276000	0.31865	-0.127000	0.13314	0.724000	0.28861	0.974000	0.29927	0.020000	0.11549	0.3808:0.0:0.6192:0.0	5.824	0.17800	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	1	0	0	0	0.02381	1487.98	63	chr3	129977080	.	G	A	1487.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.614;DP=1441;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=0.288;SOR=0.638	GT:AD:DP:GQ:PL	0/1:60,58:118:99:1502,0,1628	20	0	1	0
chr3	130389041	130389041	A	T	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon6:c.A2323T:p.S775C	.	.	418	1098	6	0	0	6	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	.	.	0.939	D	2.98	M	-1.24	T	0.474	D	0.643	D	0.613	2.414	14.03	5.48	2.071	4.306	9.137	0.602	0.0558982563132	.	.	7.537e-05	0	0.0030	0	0	0	0	0	2.59e-05	4	154602	rs767687973	6.979e-05	6.909e-05	5.625e-05	8.384e-05	0.0011	5.829e-05	5.414e-05	0.0005	0.0003	0	0.0003	4.345e-05	0	0	0.0011	6.124e-05	0.0001	0.0001	9.194e-05	9.186e-05	7.71e-05	0.0001	0.0002	5.525e-05	4.362e-05	6.806e-05	5.089e-05	0	0.0011	6.539e-05	0.0003	0	0	0.0034	0.0001	0	0.0002	0.003	0.68238	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.939273	0.37255	D	.	.	.	-1.24	0.78967	T	-3.84	0.72240	D	0.357	0.39861	0.474	0.90185	D	0.643	0.87528	D	9	0.07914257	0.12696	T	0.055898	0.66404	D	0.602	0.84291	0.635	0.77142	0.712809657963	0.71029	0.4005490180935694	0.39969	0.23887650308	0.26443	0.496764540672	0.38377	T	0.354452	0.72160	T	-0.10781	0.35129	T	-0.0477003	0.67180	D	0.467352825145303	0.31434	T	0.894111	0.63286	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.64155	A	.	.	4.685943	0.75034	26.3	0.96283732649369735	0.29289	0.91545	0.53754	D	AEFGBCI	0.740940	0.68503	D	0.703211432937609	0.79844	7.164133	0.620114996494954	0.76401	6.484406	0.999999984571809	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.48	5.48	0.80675	5.958000	0.70050	11.294000	0.92114	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.836000	0.39433	0.9173:0.0:0.0827:0.0	9.137	0.36041	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	1113.98	37	chr3	130389041	.	A	T	1113.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.670e-01;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=1.29;SOR=0.654	GT:AD:DP:GQ:PL	0/1:55,43:98:99:1128,0,1576	20	0	1	0
chr3	130421334	130421334	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5011C:p.G1671R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	0.746	D	2.525	M	-6.29	D	1.094	D	0.984	D	0.953	2.043	12.79	5.29	2.648	4.837	14.806	0.797	0.164375721412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.145e-06	2.052e-06	0	4.35e-06	2.783e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.783e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.745532	0.33870	D	.	.	.	-6.29	0.99632	D	-5.91	0.88904	D	0.939	0.94550	1.094	0.99422	D	0.984	0.99521	D	9	0.9844847	0.98645	D	0.164376	0.84350	D	0.797	0.93346	0.939	0.99156	0.586235444834	0.58297	0.9414209663944619	0.94123	0.243824273026	0.26889	0.697831511497	0.66831	T	0.415688	0.76886	T	0.521084	0.94919	D	0.510724	0.94844	D	0.997076034545898	0.90711	D	0.905809	0.66782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.859	0.80266	P	.	.	5.150285	0.86261	28.9	0.99794094919957821	0.87928	0.95070	0.63328	D	AEFBI	0.711476	0.66491	D	0.700525877457095	0.79667	7.126234	0.630267782049677	0.77149	6.623992	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	739.91	44	chr3	130421334	.	G	C,*	739.91	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-3.709e+00;DP=1024;ExcessHet=1.7912;FS=120.026;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=1.94;ReadPosRankSum=0.653;SOR=8.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,22,0:77:99:0|1:130421334_G_C:264,0,2031,426,2092,2518:130421334	15	0	5	0
chr3	130421334	130421334	G	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	739.91	44	chr3	130421334	.	G	C,*	739.91	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-3.709e+00;DP=1024;ExcessHet=1.7912;FS=120.026;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=1.94;ReadPosRankSum=0.653;SOR=8.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,22,0:77:99:0|1:130421334_G_C:264,0,2031,426,2092,2518:130421334	15	0	5	0
chr3	130421335	130421335	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012A:p.G1671E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	0.724	D	2.525	M	-6.28	D	1.094	D	0.984	D	0.964	2.130	13.08	5.29	2.648	4.837	14.806	0.794	0.167130559847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.723514	0.33642	D	.	.	.	-6.28	0.99614	D	-5.87	0.88630	D	0.94	0.94668	1.094	0.99395	D	0.984	0.99521	D	9	0.985523	0.98809	D	0.167131	0.84557	D	0.794	0.93227	0.951	0.99428	0.644124591191	0.64118	0.9735298133118696	0.97341	0.262336419958	0.28795	0.683480918407	0.64769	T	0.416298	0.76929	T	0.521063	0.94919	D	0.510694	0.94844	D	0.997076034545898	0.90711	D	0.920008	0.71084	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.79050	P	.	.	5.173918	0.86733	29.0	0.99152888611040157	0.53875	0.94007	0.59833	D	AEFBI	0.669031	0.63661	D	0.704442869841399	0.79923	7.181635	0.635508156860711	0.77535	6.698256	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:55,0,22,0:77:99:0|1:130421334_G_C:264,426,2518,0,2092,2031,426,2518,2092,2518:130421334	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|2:55,0,22,0:77:99:0|1:130421334_G_C:264,426,2518,0,2092,2031,426,2518,2092,2518:130421334	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|2:55,0,22,0:77:99:0|1:130421334_G_C:264,426,2518,0,2092,2031,426,2518,2092,2518:130421334	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|1:54,22,0:76:99:0|1:130421334_G_C:267,0,2009,426,2070,2496:130421334	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|1:54,22,0:76:99:0|1:130421334_G_C:267,0,2009,426,2070,2496:130421334	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|1:53,22,0:75:99:0|1:130421334_G_C:270,0,1967,426,2028,2454:130421334	6	0	10	4
chr3	133811164	133811164	G	C	exonic	SRPRB	.	nonsynonymous SNV	SRPRB:NM_001379313:exon4:c.G375C:p.R125S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.999	D	0.060	N	1.000	D	1.98	M	1.67	T	-0.981	T	0.142	T	0.992	3.877	19.70	2.24	0.505	0.421	7.683	0.365	0.0395363560954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	4.788e-06	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.059867	0.22291	N	0.419105	0.999998	0.58761	D	2.7	0.79018	M	1.67	0.27331	T	-5.99	0.89401	D	0.975	0.98563	-0.9814	0.34678	T	0.142	0.46386	T	10	0.9769599	0.97506	D	0.039536	0.58866	D	0.365	0.68495	0.885	0.97081	0.513448892127	0.50984	0.6556272041057072	0.65498	0.850424933985	0.68512	0.70716047287	0.68180	T	0.301519	0.67397	T	0.214912	0.75294	D	0.0709292	0.74972	D	0.98602956533432	0.76852	D	0.926607	0.72946	D	0.7467684	0.80681	0.6180993	0.77761	0.7467684	0.80682	0.6180993	0.77762	-14.899	0.95611	D	.	.	0.993	0.94496	P	.	.	4.289479	0.65400	24.8	0.99740139576912379	0.83409	0.92031	0.54792	D	AEFBI	0.540829	0.55723	D	0.357132536362098	0.59118	4.088559	0.289358020393427	0.54918	3.65547	0.877412702490473	0.25545	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	2.24	0.27264	0.441000	0.21325	2.252000	0.31695	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.2987:0.0:0.7013:0.0	7.683	0.27690	817	0.41665	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.08333	33.3	121	chr3	133811164	.	G	C	33.3	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.169e+00;DP=2243;ExcessHet=0.3300;FS=109.461;InbreedingCoeff=-0.1346;MLEAC=2;MLEAF=0.056;MQ=60.00;MQRankSum=0.00;QD=0.07;ReadPosRankSum=0.524;SOR=9.250	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,21:167:5:0|1:133811163_G_C:5,0,5221:133811163	15	0	3	3
chr3	138023699	138023699	G	A	exonic	CLDN18	.	nonsynonymous SNV	CLDN18:NM_001002026:exon2:c.G262A:p.V88I	.	.	419	1083	20	0	0	20	0.00914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.998	D	0.907	P	0.000	D	1.000	D	0.795	N	-2.12	D	-0.031	T	0.553	D	0.483	2.952	15.84	5.6	2.644	5.487	19.620	0.371	0.0238044773396	0.0017	0.00279553	0.0023	0.0003	0.0022	0	0.0002	0.0025	0.0033	0.0050	0.0021927	339	154602	rs114998965	0.0022	0.0022	0.0020	0.0024	0.0111	0.0021	0.0021	0.0089	0.0081	0.0006	0.0017	3.826e-05	0	0.0002	0.0111	0.0021	0.0023	0.0065	0.0018	0.0018	0.0018	0.0019	0.0060	0.0016	0.0016	0.0043	0.0037	0.0004	0	0.0044	0	0	9.422e-05	0.0068	0.0022	0.0052	0.0060	0.186	0.22224	T	0.728	0.05203	T	0.998	0.73220	D	0.907	0.64423	P	0.000048	0.53742	D	0.072088	0.999845	0.49770	D	1.165	0.29723	L	-2.12	0.86283	D	0.24	0.04533	N	0.349	0.40665	-0.0308	0.81613	T	0.553	0.83640	D	10	0.014335632	0.00302	T	0.023804	0.46785	T	0.371	0.69016	.	.	0.795177276677	0.79327	0.5745959723084327	0.57388	0.684914073292	0.60249	0.72128111124	0.70234	T	0.162044	0.50655	T	-0.255887	0.13385	T	-0.138559	0.60244	T	0.0182757972591564	0.00546	T	0.866613	0.56692	D	0.18001181	0.39101	0.2198649	0.46741	0.18001181	0.39100	0.2198649	0.46740	-3.312	0.13893	T	.	.	0.103	0.19559	B	.;.	.;.	4.180481	0.62926	24.5	0.9973037581348364	0.82690	0.94983	0.63014	D	AEFDGBCI	0.463214	0.51222	N	0.435514676815602	0.63387	4.571382	0.472779387171074	0.66192	4.920189	0.999999999557706	0.74766	0.553676	0.25195	0	0.232529	0.04832	2	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.6	5.6	0.84997	5.621000	0.67420	4.759000	0.44704	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.899000	0.43558	0.0:0.0:1.0:0.0	19.620	0.95647	495	0.76383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1472.98	34	chr3	138023699	.	G	A	1472.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=829;ExcessHet=0.0000;FS=1.513;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=1.71;SOR=0.554	GT:AD:DP:GQ:PL	0/1:63,57:120:99:1487,0,1499	20	0	1	0
chr3	170998046	170998046	G	C	exonic	SLC2A2	.	nonsynonymous SNV	SLC2A2:NM_001278658:exon10:c.C1075G:p.L359V	Fanconi-Bickel syndrome, Autosomal recessive	.	1	1511	10	0	0	10	0.00329815	.	.	293779	SLC2A2-related_disorder|not_provided|Fanconi-Bickel_syndrome|Type_2_diabetes_mellitus	.|MedGen:C3661900|MONDO:MONDO:0009216,MedGen:C3495427,OMIM:227810,Orphanet:2088|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.49	T	0.043	B	0.04	B	0.010	N	0.928	D	-0.35	N	-0.96	T	-1.061	T	0.132	T	0.136	1.197	9.862	1.36	-0.028	0.191	6.334	0.090	0.00890319125531	0.0011	0.000399361	0.0010	0.0002	0	0	0.0018	0.0011	0.0011	0.0023	0.0009508	147	154602	rs5397	0.0013	0.0013	0.0013	0.0013	0.0022	0.0012	0.0012	0.0019	0.0018	0.0002	0.0001	0	0	0.0011	0.0005	0.0014	0.0013	0.0022	0.0009	0.0009	0.0008	0.0010	0.0025	0.0008	0.0007	0.0014	0.0011	0.0002	0	0.0004	0	0	0.0013	0	0.0014	0.0005	0.0025	0.357	0.12032	T	0.737	0.05036	T	0.043	0.21573	B	0.04	0.23831	B	0.009530	0.30318	N	0.345965	0.928115	0.36885	D	0.49	0.13296	N	-0.96	0.75553	T	-0.28	0.11547	N	0.075	0.04913	-1.0613	0.11434	T	0.132	0.44425	T	10	0.010517448	0.00234	T	0.008903	0.23463	T	0.090	0.26093	.	.	0.516162830352	0.51260	0.4817847910657274	0.48098	0.166197381552	0.18754	0.449450194836	0.31869	T	0.238634	0.60658	T	-0.486422	0.00680	T	-0.477655	0.24696	T	0.00428323383558468	0.00046	T	0.813419	0.46649	T	0.0684418	0.14910	0.040046085	0.04240	0.05942514	0.12074	0.051368464	0.08253	-3.233	0.12888	T	0.10844219643555432	0.08941	0.066	0.02173	B	.	.	0.835277	0.12070	8.622	0.95680526812552436	0.27539	0.43429	0.27096	N	ALL	0.734619	0.68069	D	-0.912838903687013	0.10541	0.5041921	-0.809780062119685	0.14259	0.7441296	0.999999981263485	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.648885	0.59868	0	.	.	6.17	1.36	0.21139	0.127000	0.15617	0.142000	0.15184	0.676000	0.76740	0.029000	0.20367	0.001000	0.17328	0.992000	0.67800	0.2423:0.2193:0.5384:0.0	6.334	0.20493	917	0.20147	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1758.98	36	chr3	170998046	.	G	C	1758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.299e+00;DP=877;ExcessHet=0.0000;FS=6.420;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=-6.280e-01;SOR=1.111	GT:AD:DP:GQ:PL	0/1:64,72:136:99:1773,0,1754	20	0	1	0
chr3	179875393	179875393	T	C	exonic	PEX5L	.	nonsynonymous SNV	PEX5L:NM_001349404:exon2:c.A14G:p.K5R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.455	P	0.069	B	0.000	D	0.833	D	0.145	N	-2.32	D	-0.070	T	0.405	T	0.407	3.124	16.44	5.88	2.250	2.889	12.983	0.243	0.0495455773261	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1168289704	6.843e-07	6.841e-07	1.362e-06	0	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	6.573e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.159	0.54683	T	0.5	0.17014	T	0.001	0.09854	B	0.001	0.10090	B	0.000131	0.49741	D	0.208224	0.833021	0.34947	D	-0.285	0.03692	N	-2.41	0.88533	D	-0.58	0.62151	N	0.149	0.28028	-0.0705	0.80769	T	0.405	0.75480	T	10	0.17771786	0.32821	T	0.049546	0.63858	D	0.243	0.54921	0.177	0.08379	0.850612038419	0.84917	0.052743420041366534	0.05216	0.332146085643	0.35272	0.558086872101	0.46998	T	0.14757	0.48571	T	-0.0127884	0.49874	T	-0.159292	0.58416	T	0.355630586668074	0.27238	T	0.924308	0.87805	D	0.09883906	0.23318	0.102368966	0.24533	0.09883906	0.23318	0.102368966	0.24533	-2.884	0.13290	T	.	.	0.068	0.15832	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.443452	0.31453	18.75	0.98374719373518138	0.40791	0.83854	0.42947	D	AEFI	0.526466	0.54881	D	-0.115640796306405	0.36710	2.125712	0.10890525433459	0.45004	2.771324	0.74846796713477	0.23321	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.88	5.88	0.94564	2.924000	0.48572	5.082000	0.47276	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:0.1434:0.8566	12.983	0.57974	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	652.74	158	chr3	179875393	.	T	C	652.74	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-5.375e+00;DP=2194;ExcessHet=0.3300;FS=111.995;InbreedingCoeff=-0.0784;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=1.15;ReadPosRankSum=1.70;SOR=10.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:176,29:205:39:.:.:39,0,3968	18	0	3	0
chr3	182836065	182836065	G	A	exonic	ATP11B	.	nonsynonymous SNV	ATP11B:NM_014616:exon5:c.G346A:p.D116N,	.	.	437	1081	4	0	0	4	0.00184672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.015	H	-2.04	D	0.991	D	0.854	D	0.35	5.137	32	5.13	2.366	9.476	18.578	0.823	0.431456452617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	1.362e-06	2.751e-06	3.48e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.48e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.245	0.98026	H	-2.04	0.85703	D	-4.61	0.82341	D	0.721	0.81857	0.991	0.97035	D	0.854	0.95125	D	10	0.8559871	0.84795	D	0.431456	0.93990	D	0.823	0.94353	0.56	0.67958	0.97858501267	0.97835	0.944116660161689	0.94393	1.74758098799	0.90959	0.834270119667	0.87217	D	0.437916	0.81818	T	0.17251	0.71354	D	0.0100217	0.70983	D	0.999798953533173	0.99036	D	1.000	0.99817	D	0.8422391	0.86769	0.70177823	0.82426	0.8422391	0.86770	0.70177823	0.82427	-15.053	0.95975	D	.	.	0.983	0.91748	P	.;.	.;.	5.467314	0.91233	32	0.99929202942555928	0.99279	0.99398	0.95516	D	AEFBI	0.885299	0.81571	D	1.00086923171394	0.95771	13.94834	0.903843728286837	0.95739	13.91697	0.999999999613245	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	5.13	5.13	0.69729	9.602000	0.97623	8.581000	0.77646	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.578	0.91117	763	0.50172	.;.	.	.	.	.	.	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	1938.98	33	chr3	182836065	.	G	A	1938.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.809e+00;DP=866;ExcessHet=0.0000;FS=1.206;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-9.390e-01;SOR=0.563	GT:AD:DP:GQ:PL	0/1:84,84:168:99:1953,0,2109	20	0	1	0
chr3	183389769	183389769	C	T	exonic	MCF2L2	.	nonsynonymous SNV	MCF2L2:NM_015078:exon2:c.G87A:p.M29I,	.	.	427	1068	24	3	0	30	0.0138504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.983	D	0.885	P	0.000	D	1.000	D	2.625	M	4.59	T	-0.439	T	0.269	T	0.425	4.211	21.9	4.79	2.353	6.267	16.956	0.211	0.0232574772145	0.0013	0.00119808	0.0027	0	0.0022	0	0	0.0030	0.0044	0.0059	0.0023932	370	154602	rs61752076	0.0017	0.0017	0.0015	0.0019	0.0116	0.0017	0.0016	0.0094	0.0086	0.0005	0.0023	0.0206	0	1.872e-05	0.0116	0.0009	0.0036	0.0063	0.0018	0.0018	0.0017	0.0018	0.0069	0.0016	0.0015	0.0050	0.0044	0.0002	0	0.0024	0.0213	0	0	0.0170	0.0015	0.0047	0.0069	0.006	0.63226	D	0.013	0.92824	D	0.164	0.60381	B	0.036	0.62825	B	0.000000	0.84330	D	0.000000	0.999583	0.47691	D	2.61	0.76335	M	4.56	0.44461	T	-2.34	0.59389	N	0.57	0.59308	-0.4387	0.70774	T	0.269	0.64066	T	10	0.0058627725	0.00225	T	0.023257	0.46211	T	0.211	0.50185	0.354	0.35408	0.699295303354	0.69669	0.7719261515607554	0.77142	0.364487451993	0.38064	0.625366687775	0.56489	T	0.084621	0.37319	T	-0.390272	0.02679	T	-0.330764	0.41383	T	0.0727788167714638	0.09036	T	0.961204	0.90223	D	0.47927946	0.65856	0.42337087	0.66210	0.47927946	0.65857	0.42337087	0.66210	-6.157	0.51463	T	.	.	0.550	0.70227	A	.;.;.;.;.;.	.;.;.;.;.;.	3.971847	0.58326	24.0	0.99787139048263984	0.87308	0.94675	0.61946	D	AEFDBI	0.691986	0.65180	D	0.570421412318507	0.71333	5.63512	0.571583180467694	0.72910	5.885064	0.999999990934825	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.79	4.79	0.60909	6.673000	0.74320	3.464000	0.38534	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	16.956	0.86131	506	0.75555	CRAL-TRIO lipid binding domain;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1803.98	33	chr3	183389769	.	C	T	1803.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.527e+00;DP=842;ExcessHet=0.0000;FS=3.856;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=1.07;SOR=0.446	GT:AD:DP:GQ:PL	0/1:76,75:151:99:1818,0,2077	20	0	1	0
chr3	185824793	185824793	C	A	exonic	IGF2BP2	.	nonsynonymous SNV	IGF2BP2:NM_001007225:exon1:c.G168T:p.E56D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.049	B	0.101	B	0.000	U	1.000	D	0.2	N	2.33	T	-1.042	T	0.023	T	0.283	2.653	14.83	2.03	1.433	2.468	8.347	0.058	0.107458676212	.	.	5.886e-05	0	0	0	0	0	0	0.0002	6.5e-06	1	154602	rs757420056	1.254e-05	1.71e-05	1.537e-05	9.596e-06	1.536e-05	7.42e-06	6.01e-06	7.22e-06	5.56e-06	0	0	0	0	0	0	1.294e-05	3.924e-05	1.536e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.14400	T	0.358	0.17804	T	0.049	0.22227	B	0.101	0.30765	B	0.000007	0.62929	U	0.000000	0.99994	0.51968	D	0.125	0.08623	N	2.33	0.16492	T	-0.8	0.24898	N	0.179	0.25377	-1.0419	0.16741	T	0.023	0.09878	T	10	0.116971284	0.22079	T	0.107459	0.78354	D	0.058	0.16647	0.362	0.36711	0.463073977797	0.45932	0.5191828995260093	0.51841	1.27893692603	0.82478	0.841317653656	0.88295	D	0.120	0.44124	T	-0.214772	0.18711	T	-0.546282	0.17685	T	0.521910548210144	0.33435	D	0.943306	0.78847	D	0.2830885	0.51343	0.21207848	0.45663	0.2830885	0.51343	0.21207848	0.45662	-4.306	0.28260	T	.	.	0.557	0.73033	A	.;.;.	.;.;.	3.743725	0.53625	23.4	0.98428270711208687	0.41364	0.97445	0.74795	D	ALL	0.491603	0.52859	N	-0.425730451092234	0.24571	1.327602	-0.310026009586554	0.27773	1.543557	0.999999998665459	0.74766	0.441713	0.08003	0	0.491552	0.07993	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	2.03	2.03	0.25714	0.850000	0.27389	4.374000	0.43159	0.445000	0.21165	0.997000	0.40164	1.000000	0.68203	0.992000	0.67800	0.0:0.7534:0.2466:0.0	8.347	0.31439	678	0.60190	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|IGF2BP2, RNA recognition motif 1;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|IGF2BP2, RNA recognition motif 1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1080.98	35	chr3	185824793	.	C	A	1080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.334;DP=823;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.80;MQRankSum=0.00;QD=11.62;ReadPosRankSum=0.070;SOR=0.773	GT:AD:DP:GQ:PL	0/1:51,42:93:99:1095,0,1294	20	0	1	0
chr3	195725627	195725797	TCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCC	-	exonic	MUC20	.	nonframeshift deletion	MUC20:NM_001282506:exon2:c.1024_1194del:p.R343_L536delinsWSPGSDVTLLAEALVTVTNIEVINCSITEIETTTSSIPGASDTDLIPTEGVKASSTSDPPALPDSTEAKPHITEVTASAETLSTAGTTESAAPDATVGTPLPTNSATEREVTAPGATTLSGALVTVSRNPLEETSALSVETPSYVKVSGAAPVSIEAGSAVGKTTSFAGSSASSYSPSEAALKNFTPSETPTMDIATKGPFPTSRDPLPSVPPTTTNSSRGTNSTLAKITTSAKTTMKPPTATPTTARTRPTTDVSAGENGGFLLLRLSVASPEDLTDPRVAERLMQQLHRELHAHAPHFQVSLLRVRRG*	.	.	1235	281	6	0	0	6	0.0105634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0117	0.0037	0.0117	0.0118	0.1099	0.0113	0.0111	0.0939	0.0879	0.1099	0.0072	0.0131	0.0182	0.0187	0.0136	0.0115	0.0163	0.0023	0.1786	0.0027	0.2083	0.1500	0.3393	0.1320	0.1159	0.2222	0.1847	0.3393	0	0.1250	0.2500	0.0556	0.0312	0	0.1923	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	1362.06	11	chr3	195725626	.	GTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCC	G	1362.06	.	AC=1;AF=0.031;AN=32;BaseQRankSum=2.12;DP=463;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0689;MLEAC=1;MLEAF=0.031;MQ=37.49;MQRankSum=0.342;QD=4.05;ReadPosRankSum=2.10;SOR=0.730	GT:AD:DP:GQ:PL	0/1:253,83:336:99:1373,0,7340	15	0	1	5
chr3	195725634	195725635	CC	-	exonic	MUC20	.	frameshift deletion	MUC20:NM_001282506:exon2:c.1031_1032del:p.A344Vfs*61,	.	.	1216	292	5	0	9	14	0.00848896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1203696921	0.0308	0.0076	0.0327	0.0293	0.1476	0.0300	0.0297	0.1285	0.1212	0.1476	0.0214	0.0717	0.0385	0.0200	0.0412	0.0309	0.0378	0.0218	0.0147	0.0018	0.0312	0	0.0455	0.0040	0.0021	0.0044	0.0019	0.0455	0	0	0	0	0	0	0.0250	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	3238.86	14	chr3	195725633	.	GCC	G,*	3238.86	.	AC=2,1;AF=0.059,0.029;AN=34;DP=339;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4302;MLEAC=3,1;MLEAF=0.088,0.029;MQ=36.17;QD=17.14;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,59,97:156:99:0|1:195725633_GCC_*:5093,2834,3741,2462,0,2171:195725633	15	0	1	4
chr3	195725633	195725635	GCC	0	exonic	MUC20	.	.	.	.	.	1216	292	5	0	9	14	0.00848896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	3238.86	14	chr3	195725633	.	GCC	G,*	3238.86	.	AC=2,1;AF=0.059,0.029;AN=34;DP=339;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4302;MLEAC=3,1;MLEAF=0.088,0.029;MQ=36.17;QD=17.14;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,59,97:156:99:0|1:195725633_GCC_*:5093,2834,3741,2462,0,2171:195725633	15	0	1	4
chr3	195725636	195725748	TCAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGC	0	exonic	MUC20	.	.	.	.	.	1183	326	9	0	4	13	0.0136157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	2552.58	14	chr3	195725636	.	TCAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGC	*,T	2552.58	.	AC=2,2;AF=0.059,0.059;AN=34;DP=570;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6985;MLEAC=3,3;MLEAF=0.088,0.088;MQ=37.63;QD=13.36;SOR=1.185	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,97,59:156:99:0|1:195725633_GCC_*:4912,2154,1759,3066,0,9493:195725633	15	0	0	4
chr3	195725637	195725748	CAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGC	-	exonic	MUC20	.	frameshift deletion	MUC20:NM_001282506:exon2:c.1034_1145del:p.E346Qfs*32	.	.	1183	326	9	0	4	13	0.0136157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0202	0.0050	0.0209	0.0196	0.0718	0.0195	0.0193	0.0591	0.0545	0.0718	0.0127	0.0488	0.0280	0.0132	0.0281	0.0199	0.0246	0.0154	0.0430	0.0010	0.0571	0.0309	0.1562	0.0255	0.0202	0.0616	0.0400	0.1562	0	0.0208	0.1667	0	0	0	0.0469	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	2552.58	14	chr3	195725636	.	TCAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGC	*,T	2552.58	.	AC=2,2;AF=0.059,0.059;AN=34;DP=570;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6985;MLEAC=3,3;MLEAF=0.088,0.088;MQ=37.63;QD=13.36;SOR=1.185	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,97,59:156:99:0|1:195725633_GCC_*:4912,2154,1759,3066,0,9493:195725633	15	0	0	4
chr3	195725704	195725704	C	0	exonic	MUC20	.	.	.	.	.	572	884	39	0	27	66	0.0215827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	53.89	38	chr3	195725704	.	C	T,*	53.89	.	AC=1,4;AF=0.033,0.133;AN=30;BaseQRankSum=-3.213e+00;DP=1678;ExcessHet=0.0000;FS=40.690;InbreedingCoeff=0.3516;MLEAC=1,5;MLEAF=0.033,0.167;MQ=40.34;MQRankSum=0.190;QD=0.27;ReadPosRankSum=-3.371e+00;SOR=0.089	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,97:156:99:1|1:195725633_GCC_*:3153,3740,6764,395,703,0:195725633	12	0	1	6
chr3	195778964	195778964	C	0	exonic	MUC4	.	.	.	.	.	456	799	118	0	149	267	0.0687646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2692	1929.74	302	chr3	195778964	.	C	*,T	1929.74	.	AC=5,2;AF=0.192,0.077;AN=26;BaseQRankSum=1.84;DP=7379;ExcessHet=2.9153;FS=0.592;InbreedingCoeff=-0.2440;MLEAC=7,3;MLEAF=0.269,0.115;MQ=57.13;MQRankSum=-5.602e+00;QD=0.71;ReadPosRankSum=-4.412e+00;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,69,0:102:99:0|1:195778942_T_*:2232,0,970,2794,1714,11223:195778942	6	0	5	8
chr3	195779036	195779036	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	73.76	280	chr3	195779036	.	T	*,G	73.76	.	AC=10,3;AF=0.333,0.100;AN=30;BaseQRankSum=-1.320e+00;DP=7021;ExcessHet=0.4264;FS=3.231;InbreedingCoeff=0.0544;MLEAC=13,4;MLEAF=0.433,0.133;MQ=54.24;MQRankSum=-3.656e+00;QD=0.02;ReadPosRankSum=-2.400e+00;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:3,191,10:204:12:.:.:6604,237,12,6370,0,6362	5	1	6	6
chr3	195779151	195779151	C	0	exonic	MUC4	.	.	.	.	.	427	1007	1	0	87	88	0.000496278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	123.42	299	chr3	195779151	.	C	G,*	123.42	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=2.19;DP=6404;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=46.74;MQRankSum=-1.703e+00;QD=0.71;ReadPosRankSum=-1.954e+00;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,10,0:45:99:.:.:137,0,667,240,696,936	18	0	1	1
chr3	195780043	195780043	G	0	exonic	MUC4	.	.	.	.	.	6	91	2	1	126	130	0.0215054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	3773.39	467	chr3	195780043	.	G	A,*	3773.39	.	AC=1,10;AF=0.036,0.357;AN=28;DP=6744;ExcessHet=0.5777;FS=0.000;InbreedingCoeff=-0.0638;MLEAC=1,13;MLEAF=0.036,0.464;MQ=57.07;QD=1.27;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:74,0,267:341:99:0|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:10909,11131,14126,0,2996,2122:195780016	5	0	1	7
chr3	195780046	195780046	A	0	exonic	MUC4	.	.	.	.	.	13	85	2	1	125	129	0.0229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	3773.39	467	chr3	195780046	.	A	C,*	3773.39	.	AC=1,10;AF=0.036,0.357;AN=28;DP=6719;ExcessHet=0.5777;FS=0.000;InbreedingCoeff=-0.0638;MLEAC=1,13;MLEAF=0.036,0.464;MQ=56.80;QD=1.27;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:74,0,267:341:99:0|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:10909,11131,14126,0,2996,2122:195780016	5	0	1	7
chr3	195780069	195780069	G	0	exonic	MUC4	.	.	.	.	.	10	98	2	0	116	118	0.010101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3462	2997.68	313	chr3	195780069	.	G	C,*	2997.68	.	AC=1,8;AF=0.038,0.308;AN=26;DP=6315;ExcessHet=0.1204;FS=0.000;InbreedingCoeff=0.0503;MLEAC=1,11;MLEAF=0.038,0.423;MQ=56.31;QD=1.57;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:74,0,267:341:99:0|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:10909,11131,14126,0,2996,2122:195780016	6	0	1	8
chr3	195780075	195780075	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2647	1468.72	313	chr3	195780075	.	T	G,*	1468.72	.	AC=1,8;AF=0.029,0.235;AN=34;DP=6273;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.1606;MLEAC=1,9;MLEAF=0.029,0.265;MQ=56.27;QD=0.77;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:74,0,267:341:99:0|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:10909,11131,14126,0,2996,2122:195780016	10	0	1	4
chr3	195780092	195780092	C	0	exonic	MUC4	.	.	.	.	.	13	97	2	0	114	116	0.0102041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3139.55	313	chr3	195780092	.	C	T,*	3139.55	.	AC=1,7;AF=0.042,0.292;AN=24;DP=6174;ExcessHet=0.0419;FS=4.756;InbreedingCoeff=0.0684;MLEAC=1,10;MLEAF=0.042,0.417;MQ=55.82;QD=2.32;SOR=0.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:74,0,267:341:99:0|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:10909,11131,14126,0,2996,2122:195780016	6	0	1	9
chr3	195780494	195780494	G	0	exonic	MUC4	.	.	.	.	.	694	424	90	25	289	429	0.1417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	5548.65	401	chr3	195780494	.	G	*,A	5548.65	.	AC=7,1;AF=0.350,0.050;AN=20;BaseQRankSum=5.01;DP=8569;ExcessHet=1.8394;FS=1.262;InbreedingCoeff=0.0278;MLEAC=12,2;MLEAF=0.600,0.100;MQ=54.69;MQRankSum=-3.824e+00;QD=1.83;ReadPosRankSum=9.34;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,294,0:363:99:.:.:225,0,3839,1194,3312,14134	3	1	5	11
chr3	195780499	195780499	G	0	exonic	MUC4	.	.	.	.	.	0	114	53	2	57	114	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	55203.73	406	chr3	195780499	.	G	A,*	55203.73	.	AC=12,7;AF=0.300,0.175;AN=40;BaseQRankSum=-3.310e-01;DP=8546;ExcessHet=0.5442;FS=0.529;InbreedingCoeff=0.0726;MLEAC=12,7;MLEAF=0.300,0.175;MQ=54.22;MQRankSum=-2.440e-01;QD=9.13;ReadPosRankSum=-4.044e+00;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:2,54,294:350:99:.:.:13442,1098,257,2643,0,3342	6	1	7	1
chr3	195780501	195780501	C	0	exonic	MUC4	.	.	.	.	.	741	294	218	40	229	527	0.336343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4667	51505.37	393	chr3	195780501	.	C	*,G	51505.37	.	AC=7,10;AF=0.233,0.333;AN=30;BaseQRankSum=-5.880e-01;DP=8384;ExcessHet=0.9330;FS=0.000;InbreedingCoeff=0.1350;MLEAC=9,13;MLEAF=0.300,0.433;MQ=54.00;MQRankSum=-3.340e-01;QD=9.32;ReadPosRankSum=-1.345e+00;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:2,458,49:509:99:.:.:23407,3011,1600,1988,0,433	3	1	2	6
chr3	195780510	195780510	G	0	exonic	MUC4	.	.	.	.	.	1	126	41	1	57	100	0.145763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	36875.28	349	chr3	195780510	.	G	A,*	36875.28	.	AC=9,5;AF=0.265,0.147;AN=34;BaseQRankSum=0.680;DP=8180;ExcessHet=0.1645;FS=1.137;InbreedingCoeff=0.2695;MLEAC=11,6;MLEAF=0.324,0.176;MQ=53.29;MQRankSum=3.36;QD=8.07;ReadPosRankSum=-2.570e+00;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:25,473,0:498:99:.:.:21837,730,0,14404,1250,14610	7	2	3	4
chr3	195780514	195780514	G	0	exonic	MUC4	.	.	.	.	.	30	98	40	1	57	99	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	22106.14	349	chr3	195780514	.	G	*,A	22106.14	.	AC=7,7;AF=0.233,0.233;AN=30;BaseQRankSum=0.605;DP=8615;ExcessHet=0.3357;FS=1.883;InbreedingCoeff=0.2178;MLEAC=9,9;MLEAF=0.300,0.300;MQ=53.69;MQRankSum=2.63;QD=4.78;ReadPosRankSum=-2.700e+00;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:3,460,17:480:99:.:.:22761,1843,322,2089,0,471	5	1	3	6
chr3	195780525	195780527	GTC	0	exonic	MUC4	.	.	.	.	.	583	681	21	3	234	261	0.0194384	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	5946.85	349	chr3	195780525	.	GTC	*,G	5946.85	.	AC=9,2;AF=0.321,0.071;AN=28;BaseQRankSum=-5.320e-01;DP=7947;ExcessHet=0.0073;FS=2.130;InbreedingCoeff=0.4634;MLEAC=13,3;MLEAF=0.464,0.107;MQ=52.96;MQRankSum=5.01;QD=1.90;ReadPosRankSum=1.98;SOR=0.532	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:6,460,0:466:99:.:.:22303,1395,0,2355,392,914	7	3	3	7
chr3	195780526	195780529	TCCG	0	exonic	MUC4	.	.	.	.	.	603	642	21	1	255	278	0.0175976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	5700.23	349	chr3	195780526	.	TCCG	*,T	5700.23	.	AC=11,1;AF=0.423,0.038;AN=26;BaseQRankSum=2.59;DP=7969;ExcessHet=0.0661;FS=2.096;InbreedingCoeff=0.3651;MLEAC=16,1;MLEAF=0.615,0.038;MQ=52.99;MQRankSum=5.89;QD=1.65;ReadPosRankSum=2.36;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:6,460,0:466:99:.:.:22303,1395,0,13120,1571,11809	5	4	3	8
chr3	195780562	195780562	G	0	exonic	MUC4	.	.	.	.	.	634	632	242	5	9	261	0.166227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	950.16	349	chr3	195780562	.	G	*,A	950.16	.	AC=4,1;AF=0.250,0.063;AN=16;BaseQRankSum=-1.598e+00;DP=7247;ExcessHet=2.8389;FS=0.524;InbreedingCoeff=0.0278;MLEAC=8,2;MLEAF=0.500,0.125;MQ=52.35;MQRankSum=5.43;QD=0.47;ReadPosRankSum=4.24;SOR=0.633	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:341,0,48:389:99:.:.:956,1905,8291,0,7237,11845	3	0	4	13
chr3	195780575	195780575	C	0	exonic	MUC4	.	.	.	.	.	839	407	22	0	254	276	0.0263158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	12264.56	349	chr3	195780575	.	C	*,T	12264.56	.	AC=6,1;AF=0.300,0.050;AN=20;BaseQRankSum=0.071;DP=7349;ExcessHet=6.0611;FS=0.558;InbreedingCoeff=-0.0832;MLEAC=10,2;MLEAF=0.500,0.100;MQ=51.21;MQRankSum=8.32;QD=3.68;ReadPosRankSum=3.24;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:81,0,521:602:99:.:.:20481,12269,14286,0,3383,1834	3	0	6	11
chr3	195780583	195780583	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10997T:p.P3666L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	B	0.002	B	.	.	1.000	N	0	N	1.57	T	-0.988	T	0.032	T	0.104	0.265	5.434	0.743	0.088	1.518	6.905	0.022	0.000701446879571	.	.	0.0024	0	0	0	0	0	0	0.0049	0.0001617	25	154602	rs767764512	0.0001	8.518e-05	7.656e-05	0.0001	0.0013	8.864e-05	8.166e-05	0.0010	0.0009	0.0001	0	0	8.872e-05	0	0.0005	3.457e-05	6.574e-05	0.0013	9.867e-05	0.0002	5.089e-05	0.0001	0.0020	3.299e-05	1.948e-05	0.0004	0.0002	0.0001	0	0	0	0	0	0	5.043e-05	0	0.0020	0.016	0.51853	D	0.187	0.28860	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.57	0.30133	T	-1.03	0.27052	N	0.107	0.09207	-0.9884	0.33002	T	0.032	0.13898	T	8	0.0077109635	0.00175	T	7.01E-4	0.00435	T	0.022	0.04323	.	.	0.0920862733494	0.08535	0.004806063485625643	0.00452	.	.	0.490108907223	0.37453	T	.	.	.	-0.321772	0.06753	T	-0.699979	0.05827	T	0.00728160681488316	0.00083	T	0.753225	0.37546	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.21390	B	.;.	.;.	2.001965	0.25439	16.76	0.73253195466699128	0.10261	0.00307	0.01628	N	AEFBI	0.057882	0.10819	N	-1.2268818149776	0.04613	0.2085847	-1.29709374232406	0.04470	0.2109179	1.33794269631254E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.743	0.743	0.17496	-0.528000	0.06280	-0.833000	0.07248	0.187000	0.17834	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0E-4:0.0:0.9999:0.0	6.905	0.23486	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	1811.04	349	chr3	195780583	.	G	A,*	1811.04	.	AC=1,2;AF=0.063,0.125;AN=16;BaseQRankSum=4.18;DP=7369;ExcessHet=0.9691;FS=1.814;InbreedingCoeff=0.2533;MLEAC=2,4;MLEAF=0.125,0.250;MQ=50.12;MQRankSum=5.62;QD=1.39;ReadPosRankSum=1.68;SOR=0.537	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:403,75,0:478:99:.:.:1817,0,14422,2952,9913,12021	5	0	1	13
chr3	195780583	195780583	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	1811.04	349	chr3	195780583	.	G	A,*	1811.04	.	AC=1,2;AF=0.063,0.125;AN=16;BaseQRankSum=4.18;DP=7369;ExcessHet=0.9691;FS=1.814;InbreedingCoeff=0.2533;MLEAC=2,4;MLEAF=0.125,0.250;MQ=50.12;MQRankSum=5.62;QD=1.39;ReadPosRankSum=1.68;SOR=0.537	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:403,75,0:478:99:.:.:1817,0,14422,2952,9913,12021	5	0	1	13
chr3	195780604	195780604	G	0	exonic	MUC4	.	.	.	.	.	455	714	336	0	17	353	0.190476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	49349.11	404	chr3	195780604	.	G	C,*	49349.11	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=1.02;DP=8148;ExcessHet=12.7758;FS=0.000;InbreedingCoeff=-0.5385;MLEAC=13,1;MLEAF=0.361,0.028;MQ=49.37;MQRankSum=2.50;QD=8.15;ReadPosRankSum=-1.380e-01;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:387,284,0:671:99:.:.:7023,0,13378,8187,14222,22410	5	0	12	3
chr3	195780620	195780620	C	0	exonic	MUC4	.	.	.	.	.	808	314	377	7	16	407	0.38371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	185617.17	454	chr3	195780620	.	C	T,*	185617.17	.	AC=14,1;AF=0.389,0.028;AN=36;BaseQRankSum=7.26;DP=8709;ExcessHet=23.1855;FS=1.891;InbreedingCoeff=-0.6027;MLEAC=16,1;MLEAF=0.444,0.028;MQ=48.79;MQRankSum=6.09;QD=25.34;ReadPosRankSum=-4.997e+00;SOR=0.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:129,605,0:734:99:.:.:23843,0,3483,24231,5274,29505	3	0	14	3
chr3	195780623	195780623	C	0	exonic	MUC4	.	.	.	.	.	801	322	379	4	16	403	0.375364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	180902.17	451	chr3	195780623	.	C	T,*	180902.17	.	AC=14,1;AF=0.389,0.028;AN=36;BaseQRankSum=7.87;DP=8655;ExcessHet=23.1855;FS=2.624;InbreedingCoeff=-0.6027;MLEAC=16,1;MLEAF=0.444,0.028;MQ=48.54;MQRankSum=5.61;QD=25.01;ReadPosRankSum=-4.462e+00;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:131,588,0:719:99:.:.:23146,0,3580,23540,5313,28853	3	0	14	3
chr3	195781134	195781134	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	33200.29	498	chr3	195781134	.	A	G,*	33200.29	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=6.18;DP=8525;ExcessHet=15.6281;FS=5.345;InbreedingCoeff=-0.5385;MLEAC=14,1;MLEAF=0.350,0.025;MQ=57.71;MQRankSum=-1.307e+01;QD=5.24;ReadPosRankSum=-7.680e-01;SOR=1.207	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:405,124,0:529:99:0|1:195781128_A_T:3825,0,16520,5044,16893,21937:195781128	6	0	13	1
chr3	195781149	195781154	GCTGGT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.10426_10431del:p.T3476_S3477del	.	.	429	865	216	1	11	229	0.11191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0145	0	0	0.0029	0	0	0	0.0351	3.84e-05	1	26028	.	0.0025	0.0021	0.0015	0.0035	0.0389	0.0024	0.0023	0.0375	0.0369	0.0001	4.844e-05	0	7.76e-05	5.404e-05	0.0012	0.0002	0.0034	0.0389	0.0031	0.0027	0.0012	0.0050	0.0817	0.0026	0.0025	0.0699	0.0654	0.0003	0	0	0	0	0	0	0.0002	0.0017	0.0817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	3997.56	481	chr3	195781148	.	GGCTGGT	G,*	3997.56	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=5.06;DP=8191;ExcessHet=12.7758;FS=8.141;InbreedingCoeff=-0.5094;MLEAC=1,13;MLEAF=0.026,0.342;MQ=56.16;MQRankSum=-1.509e+01;QD=0.72;ReadPosRankSum=-2.317e+00;SOR=1.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,200,101:496:99:0|1:195781148_GGCTGGT_G:7590,0,8069,4008,3791,12391:195781148	6	0	1	2
chr3	195781148	195781154	GGCTGGT	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	3997.56	481	chr3	195781148	.	GGCTGGT	G,*	3997.56	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=5.06;DP=8191;ExcessHet=12.7758;FS=8.141;InbreedingCoeff=-0.5094;MLEAC=1,13;MLEAF=0.026,0.342;MQ=56.16;MQRankSum=-1.509e+01;QD=0.72;ReadPosRankSum=-2.317e+00;SOR=1.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,200,101:496:99:0|1:195781148_GGCTGGT_G:7590,0,8069,4008,3791,12391:195781148	6	0	1	2
chr3	195781150	195781150	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	17655.6	472	chr3	195781150	.	C	CAT,*	17655.6	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=6.87;DP=8110;ExcessHet=11.8493;FS=8.427;InbreedingCoeff=-0.4911;MLEAC=13,1;MLEAF=0.325,0.025;MQ=57.14;MQRankSum=-1.618e+01;QD=3.26;ReadPosRankSum=-2.268e+00;SOR=1.431	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:195,97,200:492:99:0|1:195781128_A_T:7623,4187,12295,0,3941,7568:195781128	7	0	12	1
chr3	195781157	195781246	CAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGTGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.10334_10423del:p.S3445_V3475delinsI	.	.	423	1077	14	1	7	23	0.00737327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0106	0	0	0.0015	0	0	0	0.0308	3.84e-05	1	26028	.	0.0007	0.0016	0.0004	0.0009	0.0108	0.0006	0.0006	0.0102	0.0100	0	0	0	2.997e-05	0	0.0005	4.8e-05	0.0007	0.0108	0.0007	0.0009	0.0003	0.0012	0.0217	0.0006	0.0006	0.0183	0.0170	8.556e-05	0	0	0	0	0	0	1.519e-05	0.0005	0.0217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5859.2	431	chr3	195781156	.	ACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGTGC	A,*	5859.2	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.334;DP=8293;ExcessHet=0.1072;FS=0.593;InbreedingCoeff=-0.0584;MLEAC=1,1;MLEAF=0.024,0.024;MQ=56.18;MQRankSum=2.96;QD=4.09;ReadPosRankSum=1.72;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:782,200,0:982:99:0|1:195781148_GGCTGGT_G:5873,0,31473,8233,32084,40317:195781148	19	0	1	0
chr3	195781156	195781246	ACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGTGC	0	exonic	MUC4	.	.	.	.	.	423	1077	14	1	7	23	0.00737327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5859.2	431	chr3	195781156	.	ACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGTGC	A,*	5859.2	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.334;DP=8293;ExcessHet=0.1072;FS=0.593;InbreedingCoeff=-0.0584;MLEAC=1,1;MLEAF=0.024,0.024;MQ=56.18;MQRankSum=2.96;QD=4.09;ReadPosRankSum=1.72;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:782,200,0:982:99:0|1:195781148_GGCTGGT_G:5873,0,31473,8233,32084,40317:195781148	19	0	1	0
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|2:782,0,200:982:99:0|1:195781148_GGCTGGT_G:5873,8233,40317,0,32084,31473:195781148	10	2	5	3
chr3	195781230	195781230	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2409.01	431	chr3	195781230	.	A	G,*	2409.01	.	AC=1,1;AF=0.036,0.036;AN=28;BaseQRankSum=-8.100e-02;DP=8763;ExcessHet=0.1128;FS=2.971;InbreedingCoeff=-0.0370;MLEAC=1,1;MLEAF=0.036,0.036;MQ=56.96;MQRankSum=3.37;QD=4.28;ReadPosRankSum=4.55;SOR=0.560	GT:AD:DP:GQ:PL	0/2:354,8,201:563:99:7154,8036,17344,0,9830,14408	12	0	1	7
chr3	195781237	195781237	G	0	exonic	MUC4	.	.	.	.	.	457	758	281	0	26	307	0.156372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	57049.74	510	chr3	195781237	.	G	GAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATGCTA,*	57049.74	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=-8.550e-01;DP=9994;ExcessHet=6.1794;FS=2.732;InbreedingCoeff=-0.3292;MLEAC=13,1;MLEAF=0.325,0.025;MQ=57.80;MQRankSum=-1.148e+01;QD=9.95;ReadPosRankSum=-6.049e+00;SOR=0.922	GT:AD:DP:GQ:PL	1/2:199,318,201:718:82:10417,82,7393,3216,0,13340	7	0	12	1
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|2:550,0,201:754:99:0|1:195781243_GT_*:6913,9469,37440,0,23413,21911:195781243	15	0	2	1
chr3	195781578	195781579	AG	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	3970.88	556	chr3	195781578	.	AG	A,*	3970.88	.	AC=1,10;AF=0.031,0.313;AN=32;BaseQRankSum=3.87;DP=10171;ExcessHet=8.9063;FS=8.836;InbreedingCoeff=-0.4349;MLEAC=1,12;MLEAF=0.031,0.375;MQ=55.69;MQRankSum=-5.260e-01;QD=0.73;ReadPosRankSum=-6.913e+00;SOR=1.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:413,127,0:540:99:0|1:195781578_AG_A:3982,0,16942,5246,17324,22570:195781578	5	0	1	5
chr3	195781581	195781581	G	0	exonic	MUC4	.	.	.	.	.	457	734	318	1	12	332	0.178971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3967.27	556	chr3	195781581	.	G	T,*	3967.27	.	AC=1,9;AF=0.033,0.300;AN=30;BaseQRankSum=4.80;DP=9779;ExcessHet=6.9875;FS=11.398;InbreedingCoeff=-0.4055;MLEAC=1,11;MLEAF=0.033,0.367;MQ=55.48;MQRankSum=-3.960e-01;QD=0.82;ReadPosRankSum=-7.208e+00;SOR=1.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:417,127,0:544:99:0|1:195781578_AG_A:3978,0,17101,5246,17483,22729:195781578	5	0	1	6
chr3	195781583	195781583	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	13584.69	556	chr3	195781583	.	T	*,TGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTC,TC	13584.69	.	AC=8,2,1;AF=0.267,0.067,0.033;AN=30;BaseQRankSum=5.10;DP=9593;ExcessHet=2.8258;FS=8.879;InbreedingCoeff=-0.2455;MLEAC=10,2,1;MLEAF=0.333,0.067,0.033;MQ=56.45;MQRankSum=-1.210e-01;QD=3.10;ReadPosRankSum=-1.456e+00;SOR=1.309	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:424,0,0,127:551:99:0|1:195781578_AG_A:3969,5246,23028,5246,23028,23028,0,17782,17782,17400:195781578	5	0	7	6
chr3	195781591	195781591	T	0	exonic	MUC4	.	.	.	.	.	449	750	25	2	296	325	0.0189666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	3997.07	404	chr3	195781591	.	T	*,G,A	3997.07	.	AC=10,2,1;AF=0.294,0.059,0.029;AN=34;BaseQRankSum=2.81;DP=8640;ExcessHet=5.0857;FS=10.247;InbreedingCoeff=-0.3523;MLEAC=11,2,1;MLEAF=0.324,0.059,0.029;MQ=55.21;MQRankSum=-4.300e+00;QD=0.78;ReadPosRankSum=-4.302e+00;SOR=1.382	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:416,0,0,90:506:99:0|1:195781578_AG_A:2499,3752,21194,3752,21194,21194,0,17442,17442,17171:195781578	5	0	9	4
chr3	195781604	195781604	-	GTGACCTGTGGATGCTGAGGAAGTGTCGGTGACATGAAGAGGGGTGGT	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.9975_9976insACCACCCCTCTTCATGTCACCGACACTTCCTCAGCATCCACAGGTCAC:p.H3325_A3326insTTPLHVTDTSSASTGH,	.	.	455	772	278	1	16	296	0.153509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0	0	0.0003	0	0.0008	.	.	.	.	0.0004	0.0003	0.0003	0.0004	0.0051	0.0003	0.0003	0.0029	0.0022	0	0.0027	0.0013	0	0	0.0051	0.0002	0.0007	0.0012	0.0004	0.0005	0.0003	0.0005	0.0010	0.0003	0.0002	0.0004	0.0003	5.202e-05	0	0.0010	0.0009	0	0	0	0.0005	0.0013	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	6595.46	368	chr3	195781604	.	C	T,CGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACATGAAGAGGGGTGGT,*	6595.46	.	AC=1,1,1;AF=0.056,0.056,0.056;AN=18;BaseQRankSum=5.02;DP=8353;ExcessHet=0.3672;FS=4.421;InbreedingCoeff=-0.1948;MLEAC=2,2,2;MLEAF=0.111,0.111,0.111;MQ=56.46;MQRankSum=-1.429e+00;QD=4.51;ReadPosRankSum=-3.433e+00;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:559,56,0,0:615:99:0|1:195781578_AG_A:745,0,18051,2298,16611,18332,2298,16611,18332,18332:195781578	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|1:559,56,0,0:615:99:0|1:195781578_AG_A:745,0,18051,2298,16611,18332,2298,16611,18332,18332:195781578	6	0	1	12
chr3	195781607	195781607	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	348.15	360	chr3	195781607	.	G	C,*	348.15	.	AC=1,1;AF=0.063,0.063;AN=16;BaseQRankSum=3.02;DP=8139;ExcessHet=0.1190;FS=7.268;InbreedingCoeff=-0.1703;MLEAC=2,2;MLEAF=0.125,0.125;MQ=54.49;MQRankSum=-2.322e+00;QD=0.31;ReadPosRankSum=-7.355e+00;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:549,46,0:595:99:0|1:195781578_AG_A:355,0,17538,1884,16073,17403:195781578	6	0	1	13
chr3	195781618	195781666	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	.	469	535	446	20	52	538	0.312339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	64803.77	402	chr3	195781618	.	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	*,G	64803.77	.	AC=5,12;AF=0.147,0.353;AN=34;BaseQRankSum=0.785;DP=8138;ExcessHet=1.0760;FS=0.000;InbreedingCoeff=-0.0359;MLEAC=6,14;MLEAF=0.176,0.412;MQ=54.52;MQRankSum=-7.229e+00;QD=12.85;ReadPosRankSum=0.031;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:27,0,337:417:36:.:.:13584,13816,16559,0,1230,36	4	0	1	4
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.725	58454.87	402	chr3	195781628	.	C	T,*	58454.87	.	AC=10,20;AF=0.250,0.500;AN=40;BaseQRankSum=2.39;DP=7718;ExcessHet=6.5132;FS=0.581;InbreedingCoeff=-0.3333;MLEAC=10,21;MLEAF=0.250,0.525;MQ=55.94;MQRankSum=-1.348e+00;QD=8.67;ReadPosRankSum=0.131;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,9,339:348:99:1|1:195781578_AG_A:14858,14396,14839,1047,724,0:195781578	0	3	3	1
chr3	195781789	195781789	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9791G:p.S3264C	.	.	.	.	.	.	.	.	.	.	.	2825223	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.994	D	0.962	D	.	.	1.000	N	0.345	N	1.35	T	-1.046	T	0.089	T	0.101	0.205	5.105	1.03	0.494	0.294	5.394	0.028	.	.	.	0.0028	0.0335	0.0047	0	0	0.0003	0	0.0002	.	.	.	rs1260213383	0.0004	0.0009	0.0004	0.0003	0.0075	0.0003	0.0003	0.0066	0.0062	0.0075	0.0006	0.0003	9.515e-05	0	0.0026	0.0001	0.0009	1.93e-05	0.0011	0.0056	0.0013	0.0010	0.0037	0.0010	0.0009	0.0031	0.0028	0.0037	0	0.0008	0.0006	0	0	0	0.0001	0.0018	0	0.036	0.43393	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.20152	N	.	.	.	1.35	0.35960	T	-0.52	0.20358	N	0.058	0.03392	-1.0464	0.15418	T	0.089	0.34325	T	8	0.0056270957	0.00125	T	.	.	.	0.028	0.06331	0.229	0.15556	0.0297737177859	0.01360	0.001013548136499485	0.00093	.	.	0.469768941402	0.34648	T	.	.	.	-0.293953	0.09243	T	-0.660019	0.08265	T	0.0111137903727331	0.00162	T	0.822818	0.48291	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.45918	B	.;.	.;.	1.908544	0.24238	16.32	0.59381222538087186	0.06211	0.00993	0.03770	N	AEFBI	0.089943	0.18228	N	-0.609396956545462	0.18661	0.9706224	-0.852740611599318	0.13221	0.6847116	1.65442328437548E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	1.03	0.19161	-0.438000	0.06975	0.729000	0.21072	0.093000	0.17603	0.000000	0.06391	0.001000	0.17328	0.005000	0.06747	0.0:0.0:1.0:0.0	5.394	0.15560	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.35	154.67	235	chr3	195781789	.	G	C,*	154.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-1.930e+00;DP=3748;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-3.910e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:67,0,200:267:99:.:.:5822,6024,8762,0,2738,2230	6	0	1	1
chr3	195781789	195781789	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	154.67	235	chr3	195781789	.	G	C,*	154.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-1.930e+00;DP=3748;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-3.910e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:67,0,200:267:99:.:.:5822,6024,8762,0,2738,2230	6	0	1	1
chr3	195781790	195781790	A	0	exonic	MUC4	.	.	.	.	.	585	525	41	5	366	417	0.0463215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	155.03	235	chr3	195781790	.	A	G,*	155.03	.	AC=1,13;AF=0.026,0.342;AN=38;BaseQRankSum=-5.110e-01;DP=3742;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5686;MLEAC=1,14;MLEAF=0.026,0.368;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-5.390e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:67,0,200:267:99:.:.:5822,6024,8762,0,2738,2230	5	0	1	2
chr3	195781809	195781809	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	98.03	235	chr3	195781809	.	T	A,*	98.03	.	AC=1,13;AF=0.026,0.342;AN=38;BaseQRankSum=1.65;DP=3716;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5686;MLEAC=1,14;MLEAF=0.026,0.368;MQ=39.50;MQRankSum=-7.910e-01;QD=0.03;ReadPosRankSum=-1.770e+00;SOR=0.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:67,0,200:267:99:.:.:5822,6024,8762,0,2738,2230	5	0	1	2
chr3	195781829	195781829	C	0	exonic	MUC4	.	.	.	.	.	519	603	37	10	353	410	0.0451306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	1756.67	235	chr3	195781829	.	C	T,*	1756.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-5.383e+00;DP=3592;ExcessHet=15.6281;FS=2.445;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=41.70;MQRankSum=-4.776e+00;QD=0.57;ReadPosRankSum=1.90;SOR=0.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:67,0,200:267:99:.:.:5822,6024,8762,0,2738,2230	6	0	1	1
chr3	195782558	195782558	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	57440.95	642	chr3	195782558	.	A	G,*	57440.95	.	AC=9,4;AF=0.300,0.133;AN=30;BaseQRankSum=-2.341e+00;DP=9169;ExcessHet=0.9330;FS=0.571;InbreedingCoeff=0.1246;MLEAC=12,5;MLEAF=0.400,0.167;MQ=56.40;MQRankSum=-5.591e+00;QD=11.79;ReadPosRankSum=1.28;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:49,329,0:378:99:.:.:8994,0,288,9141,1272,10414	5	1	5	6
chr3	195783084	195783084	A	0	exonic	MUC4	.	.	.	.	.	29	112	61	14	10	99	0.284345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	76734.88	472	chr3	195783084	.	A	C,*	76734.88	.	AC=14,3;AF=0.368,0.079;AN=38;BaseQRankSum=-3.116e+00;DP=9201;ExcessHet=0.8299;FS=0.000;InbreedingCoeff=0.0328;MLEAC=15,3;MLEAF=0.395,0.079;MQ=57.96;MQRankSum=-8.050e-01;QD=13.77;ReadPosRankSum=-5.900e-01;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:22,347,0:369:99:1|1:195783084_A_C:9499,638,0,10367,1163,13526:195783084	6	2	8	2
chr3	195783093	195783093	A	0	exonic	MUC4	.	.	.	.	.	83	60	55	21	7	104	0.447005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	99636.6	482	chr3	195783093	.	A	G,*	99636.6	.	AC=15,2;AF=0.469,0.063;AN=32;BaseQRankSum=-2.015e+00;DP=8944;ExcessHet=1.9072;FS=0.000;InbreedingCoeff=-0.0323;MLEAC=18,2;MLEAF=0.563,0.063;MQ=58.06;MQRankSum=-9.630e-01;QD=17.76;ReadPosRankSum=0.012;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,458,0:458:99:1|1:195783084_A_C:18062,1418,0,17472,1397,17750:195783084	3	2	9	5
chr3	195783613	195783613	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C7967T:p.P2656L,	.	.	732	788	2	0	0	2	0.00126743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	0	N	1.43	T	-1.014	T	0.037	T	0.053	-0.600	1.318	1.02	0.489	-0.045	4.284	0.011	0.00039800219104	.	.	0	0	0	0	0	0	0	0	.	.	.	rs780266523	0.0011	0.0008	0.0005	0.0016	0.0099	0.0010	0.0010	0.0091	0.0088	0	0	8.413e-05	0	0	0	9.728e-06	0.0006	0.0099	0	5.902e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.079	0.33753	T	0.063	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.43	0.33630	T	-0.17	0.13226	N	0.049	0.03956	-1.0143	0.25561	T	0.037	0.15986	T	6	0.0345397	0.01665	T	3.98E-4	0.00071	T	0.011	0.01250	0.159	0.06287	0.144782658237	0.14088	4.947519551632745E-4	0.00045	.	.	0.511744916439	0.40465	T	.	.	.	-0.356871	0.04309	T	-0.750397	0.03470	T	0.0429514167564585	0.04229	T	0.689931	0.29934	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.29995	B	.;.	.;.	1.443564	0.18632	13.84	0.27821969667128038	0.01399	0.00497	0.02345	N	AEFBI	0.062114	0.11920	N	-0.905250438721098	0.10718	0.5135698	-1.05993834615037	0.08501	0.4182759	1.56210366471235E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.02	1.02	0.19102	-0.811000	0.04607	0.900000	0.22542	0.061000	0.17545	0.001000	0.13787	0.008000	0.19753	0.023000	0.12082	0.0:0.0:0.6095:0.3905	4.284	0.10294	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	340.57	7	chr3	195783613	.	G	A	340.57	.	AC=1;AF=0.031;AN=32;BaseQRankSum=3.38;DP=195;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0006;MLEAC=1;MLEAF=0.031;MQ=39.43;MQRankSum=0.069;QD=16.22;ReadPosRankSum=-3.065e+00;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,10:21:99:0|1:195783613_G_A:352,0,427:195783613	15	0	1	5
chr3	195783655	195783655	A	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.T7925A:p.L2642H,	.	.	790	731	1	0	0	1	0.000683527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	0	N	1.42	T	-1.040	T	0.032	T	0.082	-0.780	0.732	-1.7	-1.773	0.094	2.530	0.024	0.000303125970761	.	.	0	0	.	.	0	0	.	.	3.84e-05	1	26028	rs192630598	0.0015	0.0004	0.0009	0.0020	0.0092	0.0013	0.0012	0.0078	0.0073	0	0.0002	0	0	0	0	4.682e-05	0.0013	0.0092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.24183	T	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.42	0.34253	T	-0.27	0.11913	N	0.107	0.11626	-1.0398	0.17374	T	0.032	0.13767	T	6	0.0053348243	0.00117	T	3.03E-4	0.00024	T	0.024	0.04979	.	.	0.0666544352282	0.05500	2.908993320029229E-4	0.00026	.	.	0.534727215767	0.43700	T	.	.	.	-0.348029	0.04853	T	-0.737696	0.03988	T	0.0181695993951375	0.00538	T	0.522848	0.17081	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.18080	B	.;.	.;.	0.650107	0.10185	6.926	0.3021077997740888	0.01641	0.00267	0.01455	N	AEFBI	0.068812	0.13590	N	-1.53575144487756	0.01619	0.07080196	-1.7098600917551	0.01094	0.04916396	7.18889605311784E-5	0.04552	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.02	-1.7	0.07721	-1.313000	0.02826	-0.767000	0.07511	-1.316000	0.01230	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5002:0.2749:0.2248:0.0	2.530	0.04416	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	0.05	85.97	5	chr3	195783655	.	A	T	85.97	.	AC=1;AF=0.050;AN=20;BaseQRankSum=-1.138e+00;DP=142;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1538;MLEAC=2;MLEAF=0.100;MQ=39.21;MQRankSum=0.696;QD=6.14;ReadPosRankSum=-2.185e+00;SOR=0.105	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,3:14:93:0|1:195783613_G_A:93,0,453:195783613	9	0	1	11
chr3	195783861	195783861	G	0	exonic	MUC4	.	.	.	.	.	560	460	486	7	9	509	0.352113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	81944.7	385	chr3	195783861	.	G	A,*	81944.7	.	AC=12,1;AF=0.400,0.033;AN=30;BaseQRankSum=1.06;DP=8683;ExcessHet=15.1749;FS=1.128;InbreedingCoeff=-0.5646;MLEAC=15,1;MLEAF=0.500,0.033;MQ=54.05;MQRankSum=-8.970e-01;QD=13.98;ReadPosRankSum=0.513;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:216,354,0:570:99:0|1:195783836_T_G:14140,0,7999,14791,9065,23855:195783836	2	0	12	6
chr3	195783874	195783874	G	0	exonic	MUC4	.	.	.	.	.	665	374	471	9	3	492	0.395311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	83273.27	394	chr3	195783874	.	G	A,*	83273.27	.	AC=12,1;AF=0.353,0.029;AN=34;BaseQRankSum=-2.313e+00;DP=8997;ExcessHet=13.8672;FS=1.132;InbreedingCoeff=-0.5289;MLEAC=14,1;MLEAF=0.412,0.029;MQ=54.92;MQRankSum=-5.830e-01;QD=13.63;ReadPosRankSum=3.00;SOR=0.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:224,373,0:597:99:0|1:195783836_T_G:14863,0,8242,15536,9365,24901:195783836	4	0	12	4
chr3	195783878	195783878	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	158236.0	363	chr3	195783878	.	C	A,CGGAAGTGTCGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGA,*,CGGAAGTGTTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGA	158236.0	.	AC=12,7,1,1;AF=0.333,0.194,0.028,0.028;AN=36;BaseQRankSum=1.84;DP=9624;ExcessHet=8.7202;FS=1.793;InbreedingCoeff=-0.4053;MLEAC=13,7,1,1;MLEAF=0.361,0.194,0.028,0.028;MQ=55.02;MQRankSum=-2.778e+00;QD=22.89;ReadPosRankSum=-4.840e-01;SOR=0.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:232,373,0,0,0:605:99:0|1:195783836_T_G:14793,0,8578,15491,9701,25191,15491,9701,25191,25191,15491,9701,25191,25191,25191:195783836	1	1	9	3
chr3	195783891	195783891	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	105790.68	446	chr3	195783891	.	G	A,*	105790.68	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=-3.408e+00;DP=9538;ExcessHet=18.9861;FS=1.113;InbreedingCoeff=-0.6327;MLEAC=15,1;MLEAF=0.395,0.026;MQ=55.85;MQRankSum=1.36;QD=13.99;ReadPosRankSum=1.52;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:387,223,0:610:99:0|1:195783891_G_A:8040,0,15571,9205,16242,25447:195783891	4	0	14	2
chr3	195783902	195783902	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	124896.55	459	chr3	195783902	.	A	G,*	124896.55	.	AC=15,1;AF=0.417,0.028;AN=36;BaseQRankSum=-2.830e-01;DP=9618;ExcessHet=25.4433;FS=0.524;InbreedingCoeff=-0.7101;MLEAC=17,1;MLEAF=0.472,0.028;MQ=56.37;MQRankSum=0.323;QD=15.45;ReadPosRankSum=-3.430e-01;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:392,225,0:617:99:0|1:195783891_G_A:8195,0,15748,9375,16425,25800:195783891	2	0	15	3
chr3	195784025	195784025	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C7555T:p.P2519S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	B	0.0	B	.	.	1.000	N	-0.55	N	1.49	T	-0.980	T	0.025	T	0.065	0.517	6.803	.	0.406	-2.238	4.826	0.048	0.0038402644759	.	.	4.36e-05	0	0	0	0	0.0001	0	0	0.0001537	4	26028	rs747010184	4.51e-05	0.0006	3.62e-05	5.423e-05	0.0007	3.551e-05	3.252e-05	0.0005	0.0004	0.0004	0.0002	0	0.0007	0	0	1.471e-05	5.64e-05	6.768e-05	0.0014	0.0095	0.0014	0.0013	0.0036	0.0011	0.0010	0.0016	0.0015	0.0021	0.0034	0.0009	0	0.0031	0.0019	0.0104	0.0006	0.0011	0.0036	0.84	0.03764	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.20950	N	.	.	.	1.49	0.31987	T	-0.23	0.13805	N	0.086	0.06322	-0.9804	0.34909	T	0.025	0.10553	T	7	0.022705257	0.00574	T	0.00384	0.08992	T	0.048	0.13305	.	.	0.0138822411134	0.00435	1.6979685493259037E-5	0.00001	.	.	0.528413772583	0.42810	T	.	.	.	-0.379433	0.03142	T	-0.782805	0.02370	T	0.00959062460587228	0.00124	T	0.694731	0.30434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00114	B	.;.	.;.	0.263569	0.06420	2.887	0.95936805272340686	0.28230	0.00271	0.01473	N	AEFBHCI	0.040527	0.06039	N	-1.42781015136646	0.02397	0.1057987	-1.50061931998053	0.02340	0.107472	1.16301632010338E-5	0.02871	0.615465	0.37627	0	0.657636	0.61667	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-4.333000	0.00287	-0.470000	0.08985	-1.958000	0.00478	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.3981:0.6019:0.0	4.826	0.12782	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	0.03125	89.16	477	chr3	195784025	.	G	A	89.16	.	AC=1;AF=0.031;AN=32;BaseQRankSum=6.05;DP=10211;ExcessHet=0.0000;FS=17.136;InbreedingCoeff=-0.0966;MLEAC=1;MLEAF=0.031;MQ=58.37;MQRankSum=-1.516e+01;QD=0.22;ReadPosRankSum=-5.553e+00;SOR=2.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:381,30:411:99:0|1:195784025_G_A:101,0,15816:195784025	15	0	1	5
chr3	195784027	195784027	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C7553T:p.T2518I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.959	N	0.55	N	1.59	T	-1.002	T	0.044	T	0.062	0.331	5.794	.	0.406	2.106	.	0.025	0.00215793287382	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1448957081	2.182e-06	1.174e-05	2.871e-06	1.474e-06	0.0002	5.8e-07	1.6e-07	.	.	0	2.866e-05	0	0	0	0.0002	9.397e-07	0	0	6.834e-06	0.0003	1.341e-05	0	1.475e-05	0	0	.	.	0	0	0	0	0	0	0	1.475e-05	0	0	0.011	0.55530	D	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.26200	N	.	.	.	1.48	0.31731	T	-0.18	0.15379	N	0.193	0.21188	-1.0021	0.29313	T	0.044	0.19111	T	4	0.07086381	0.10367	T	0.002158	0.04043	T	0.025	0.05312	0.152	0.05544	0.0297737177859	0.01360	4.191902890631022E-5	0.00003	.	.	0.557074069977	0.46855	T	.	.	.	-0.315136	0.07304	T	-0.690447	0.06363	T	0.0737741203433262	0.09171	T	0.818818	0.47619	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25882	B	.;.	.;.	1.856150	0.23579	16.07	0.82942276593910702	0.14457	0.02268	0.06552	N	AEFBHCI	0.090879	0.18412	N	-0.855805620920088	0.11908	0.5773473	-1.0589282935245	0.08521	0.4193998	1.27526553995138E-5	0.02871	0.615465	0.37627	0	0.657636	0.61667	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	0.869000	0.27648	-1.682000	0.04924	0.061000	0.17545	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	.	.	.	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	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	0.025	66.42	477	chr3	195784027	.	G	A	66.42	.	AC=1;AF=0.025;AN=40;BaseQRankSum=4.77;DP=10221;ExcessHet=0.0000;FS=17.246;InbreedingCoeff=-0.0422;MLEAC=1;MLEAF=0.025;MQ=58.43;MQRankSum=-1.529e+01;QD=0.16;ReadPosRankSum=-5.737e+00;SOR=2.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:388,30:418:80:0|1:195784025_G_A:80,0,16110:195784025	19	0	1	1
chr3	195784028	195784028	T	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A7552C:p.T2518P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.951	N	0.55	N	1.47	T	-1.002	T	0.040	T	0.093	0.549	6.969	.	0.000	-3.351	4.476	0.034	0.00187458634169	.	.	.	.	.	.	.	.	.	.	.	.	.	rs769237222	0	1.255e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.236e-05	0.0007	2.779e-05	5.742e-05	4.534e-05	1.125e-05	6.12e-06	.	.	4.534e-05	0	0	0	0	0.0003	0	3.22e-05	0	0	0.022	0.48642	D	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.26487	N	.	.	.	1.43	0.32958	T	-0.25	0.12847	N	0.19	0.20793	-1.0024	0.29226	T	0.040	0.17362	T	5	0.09326932	0.16492	T	0.001875	0.03272	T	0.034	0.08419	.	.	0.0138822411134	0.00435	9.570868951999214E-6	0.00000	.	.	0.545766234398	0.45260	T	.	.	.	-0.331828	0.05974	T	-0.714424	0.05069	T	0.0608508865891481	0.07302	T	0.459554	0.13284	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15609	B	.;.	.;.	1.225052	0.16193	12.38	0.50344893599565799	0.04368	0.01288	0.04488	N	AEFBHCI	0.154413	0.27944	N	-1.05168543983753	0.07554	0.3513302	-1.26713363319745	0.04882	0.2313715	1.36265087646247E-5	0.02871	0.615465	0.37627	0	0.657636	0.61667	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-2.063000	0.01476	-2.785000	0.03363	-2.498000	0.00264	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:8.0E-4:0.0:0.9992	4.476	0.11155	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	33.79	477	chr3	195784028	.	T	G	33.79	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.76;DP=10232;ExcessHet=0.0000;FS=17.192;InbreedingCoeff=-0.0553;MLEAC=1;MLEAF=0.026;MQ=58.43;MQRankSum=-1.560e+01;QD=0.08;ReadPosRankSum=-5.404e+00;SOR=2.540	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:389,29:418:47:0|1:195784025_G_A:47,0,16183:195784025	18	0	1	2
chr3	195784187	195784187	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C7393T:p.L2465F	.	.	407	1114	1	0	0	1	0.000448632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.797	P	0.177	B	.	.	1.000	N	0.55	N	1.17	T	-1.060	T	0.044	T	0.059	0.470	6.552	.	-0.893	-0.217	2.745	0.030	0.00235125423738	.	.	0.0005	0.0014	0	0.0048	0	9.416e-05	0	0.0005	7.76e-05	12	154602	rs775924996	6.158e-05	0.0001	6.363e-05	5.947e-05	0.0003	5.083e-05	4.679e-05	0.0002	0.0001	0.0003	0.0001	4.094e-05	8.698e-05	0	0.0002	4.072e-05	0.0002	0.0001	0.0003	0.0004	0.0002	0.0003	0.0008	0.0002	0.0002	0.0005	0.0005	0.0008	0	0.0001	0.0003	0.0002	0	0	5.898e-05	0.0005	0.0006	0.179	0.31834	T	0.054	0.47097	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.17	0.39223	T	0.03	0.07444	N	0.031	0.00770	-1.0601	0.11731	T	0.044	0.18865	T	7	0.007906616	0.00179	T	0.002351	0.04562	T	0.030	0.07022	.	.	0.0138822411134	0.00435	1.8935172387048806E-5	0.00001	.	.	0.52158677578	0.41849	T	.	.	.	-0.321129	0.06806	T	-0.699056	0.05878	T	0.00450663274780922	0.00048	T	0.765923	0.39354	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.38782	B	.;.	.;.	2.026731	0.25760	16.88	0.88633212630738822	0.18131	0.00505	0.02373	N	AEFDGBHCI	0.036412	0.04848	N	-1.07350490141364	0.07135	0.3305295	-1.28187521989257	0.04675	0.2210905	8.31363268938329E-5	0.04703	0.713056	0.82018	0	0.546412	0.12157	0	0.608524	0.38960	0	0.613276	0.41899	0	.	.	.	.	.	-0.821000	0.04560	-6.495000	0.01383	0.061000	0.17545	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.0:0.4482:0.2987:0.2531	2.745	0.04940	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3721.06	477	chr3	195784187	.	G	A	3721.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.242e+00;DP=12348;ExcessHet=0.0000;FS=0.562;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.024;MQ=59.65;MQRankSum=-1.920e+00;QD=6.35;ReadPosRankSum=0.319;SOR=0.755	GT:AD:DP:GQ:PL	0/1:402,184:586:99:3735,0,10843	20	0	1	0
chr3	195785315	195785315	-	GAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.I2089Vfs*931	.	.	542	16	26	927	11	1891	0.983264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.337e-05	0	0	0	0.0005	7.837e-05	0	0	1.29e-05	2	154602	rs751858617	0.0001	0.0010	0.0001	0.0002	0.0009	0.0001	0.0001	0.0006	0.0006	0.0009	8.604e-05	0	2.823e-05	0.0005	0.0002	9.85e-05	0.0002	7.712e-05	0.0004	0.0010	0.0004	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	7.172e-05	0	0	0.0001	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	501656.58	740	chr3	195785315	.	T	C,TGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	501656.58	.	AC=40,2;AF=0.952,0.048;AN=42;BaseQRankSum=1.87;DP=15694;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=57.82;MQRankSum=-3.320e-01;QD=34.25;ReadPosRankSum=-4.420e-01;SOR=0.107	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,732,0:732:99:.:.:19940,2008,0,19940,2008,19940	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	1/1:0,631,0:631:99:.:.:19349,1890,0,20630,1953,24524	0	15	5	0
chr3	195787238	195787238	C	0	exonic	MUC4	.	.	.	.	.	932	298	197	67	28	359	0.357066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	3246.35	24	chr3	195787238	.	C	A,*	3246.35	.	AC=16,3;AF=0.421,0.079;AN=38;BaseQRankSum=1.49;DP=300;ExcessHet=2.6629;FS=47.055;InbreedingCoeff=-0.1962;MLEAC=18,3;MLEAF=0.474,0.079;MQ=37.84;MQRankSum=1.47;QD=13.47;ReadPosRankSum=-3.110e-01;SOR=1.282	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,9,0:9:27:1|1:195787233_T_A:403,27,0,403,27,403:195787233	4	2	10	2
chr3	195787273	195787273	T	0	exonic	MUC4	.	.	.	.	.	903	371	151	74	23	322	0.287224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2873.59	19	chr3	195787273	.	T	*,C	2873.59	.	AC=4,15;AF=0.100,0.375;AN=40;BaseQRankSum=-3.190e-01;DP=324;ExcessHet=0.7352;FS=61.659;InbreedingCoeff=-0.0399;MLEAC=5,17;MLEAF=0.125,0.425;MQ=37.78;MQRankSum=1.27;QD=11.54;ReadPosRankSum=-6.730e-01;SOR=0.049	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,10:10:30:1|1:195787233_T_A:415,415,415,30,30,0:195787233	6	0	1	1
chr3	195787579	195787579	G	0	exonic	MUC4	.	.	.	.	.	46	100	18	19	43	99	0.21875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5357	1237.73	147	chr3	195787579	.	G	A,*	1237.73	.	AC=2,13;AF=0.071,0.464;AN=28;DP=1766;ExcessHet=0.0393;FS=10.568;InbreedingCoeff=0.2243;MLEAC=3,17;MLEAF=0.107,0.607;MQ=51.08;QD=1.06;SOR=1.344	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,28,0:28:84:1|1:195787453_G_A:1260,84,0,1260,84,1260:195787453	4	1	0	7
chr3	195787584	195787584	A	0	exonic	MUC4	.	.	.	.	.	854	418	49	62	139	312	0.171457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5769	923.51	147	chr3	195787584	.	A	G,*	923.51	.	AC=2,13;AF=0.077,0.500;AN=26;DP=1759;ExcessHet=0.0610;FS=9.265;InbreedingCoeff=0.2100;MLEAC=3,18;MLEAF=0.115,0.692;MQ=48.44;QD=0.79;SOR=1.346	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,21,0:21:63:1|1:195787453_G_A:945,63,0,945,63,945:195787453	3	1	0	8
chr3	195787599	195787601	CAT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3979_3981del:p.M1327del	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355836000	0.0028	0.0097	0.0026	0.0030	0.0064	0.0027	0.0026	0.0058	0.0056	0.0041	0.0014	0.0050	0.0059	0.0033	0.0007	0.0022	0.0031	0.0064	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	291.59	147	chr3	195787598	.	GCAT	G,*	291.59	.	AC=2,13;AF=0.067,0.433;AN=30;DP=1745;ExcessHet=0.0261;FS=9.236;InbreedingCoeff=0.2448;MLEAC=2,17;MLEAF=0.067,0.567;MQ=43.03;QD=0.25;SOR=1.314	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,7,0:7:21:1|1:195787453_G_A:315,21,0,315,21,315:195787453	5	1	0	6
chr3	195787598	195787601	GCAT	0	exonic	MUC4	.	.	.	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	291.59	147	chr3	195787598	.	GCAT	G,*	291.59	.	AC=2,13;AF=0.067,0.433;AN=30;DP=1745;ExcessHet=0.0261;FS=9.236;InbreedingCoeff=0.2448;MLEAC=2,17;MLEAF=0.067,0.567;MQ=43.03;QD=0.25;SOR=1.314	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,7,0:7:21:1|1:195787453_G_A:315,21,0,315,21,315:195787453	5	1	0	6
chr3	195787606	195787606	T	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A3974T:p.D1325V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618	P	0.063	B	.	.	1.000	N	0.55	N	1.38	T	-1.052	T	0.035	T	0.11	-0.198	3.040	-0.624	-0.525	0.027	2.146	0.013	0.000655979915957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.629e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.38	0.34253	T	-0.3	0.11913	N	0.123	0.17966	-1.0518	0.13899	T	0.035	0.14900	T	8	0.093527794	0.16559	T	6.56E-4	0.00350	T	0.013	0.01715	0.28	0.23483	0.0297737177859	0.01360	0.001541378116443626	0.00142	.	.	0.48179396987	0.36304	T	.	.	.	-0.289584	0.09678	T	-0.653744	0.08694	T	0.0826538188049675	0.10323	T	0.857114	0.54640	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.46881	B	.;.	.;.	1.459843	0.18824	13.94	0.59291013908831258	0.06190	0.00314	0.01657	N	AEFI	0.054323	0.09869	N	-1.11385691208119	0.06395	0.2942896	-1.29352653674177	0.04517	0.2132571	1.2593949137403E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.312	-0.624	0.10972	-1.272000	0.02933	-8.260000	0.01000	0.060000	0.17535	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.0:0.3267:0.3426:0.3306	2.146	0.03555	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05556	114.43	147	chr3	195787606	.	T	A	114.43	.	AC=2;AF=0.056;AN=36;DP=620;ExcessHet=0.0000;FS=4.450;InbreedingCoeff=0.6303;MLEAC=1;MLEAF=0.028;MQ=33.75;QD=31.55;SOR=1.192	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3:3:9:1|1:195787453_G_A:135,9,0:195787453	17	1	0	3
chr3	195787858	195787905	GCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3675_3722del:p.D1228_T1243del	.	.	845	542	82	39	14	174	0.128617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0016	8.86e-05	0.0001	0.0002	8.685e-05	7.777e-05	7.503e-05	6.47e-05	0.0002	0.0001	0.0002	0.0001	0.0002	0	0.0001	0.0002	2.234e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	3048.65	24	chr3	195787857	.	TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	T,AGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	3048.65	.	AC=2,12;AF=0.059,0.353;AN=34;BaseQRankSum=1.44;DP=324;ExcessHet=0.6984;FS=37.858;InbreedingCoeff=0.0268;MLEAC=2,14;MLEAF=0.059,0.412;MQ=36.04;MQRankSum=0.122;QD=17.13;ReadPosRankSum=0.506;SOR=4.512	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,7:7:21:1|1:195787857_T_A:305,305,305,21,21,0:195787857	6	0	1	4
chr3	195787862	195787862	C	0	exonic	MUC4	.	.	.	.	.	915	430	100	76	1	253	0.226619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4667	2681.94	24	chr3	195787862	.	C	A,*	2681.94	.	AC=13,2;AF=0.433,0.067;AN=30;BaseQRankSum=-2.400e-01;DP=304;ExcessHet=0.3122;FS=39.025;InbreedingCoeff=0.0321;MLEAC=16,3;MLEAF=0.533,0.100;MQ=35.60;MQRankSum=-7.000e-02;QD=16.16;ReadPosRankSum=0.623;SOR=4.592	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,7,0:7:21:1|1:195787857_T_A:305,21,0,305,21,305:195787857	4	3	6	6
chr3	195787897	195787897	T	0	exonic	MUC4	.	.	.	.	.	830	484	108	98	2	306	0.238994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4090.56	24	chr3	195787897	.	T	*,C	4090.56	.	AC=2,16;AF=0.059,0.471;AN=34;BaseQRankSum=-3.270e-01;DP=455;ExcessHet=0.3330;FS=31.908;InbreedingCoeff=0.0493;MLEAC=2,18;MLEAF=0.059,0.529;MQ=36.91;MQRankSum=-3.460e-01;QD=16.17;ReadPosRankSum=0.153;SOR=4.157	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,10:10:30:1|1:195787857_T_A:427,427,427,30,30,0:195787857	4	0	1	4
chr3	195788852	195788852	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A2728G:p.T910A	.	.	415	1065	42	0	0	42	0.019337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.888	P	0.32	B	0.278	N	1.000	N	0.55	N	0.97	T	-1.105	T	0.018	T	0.081	0.372	6.022	2.78	1.529	0.120	4.692	0.034	.	0.0075	0.0155751	0.0096	0.0194	0.0042	0.0001	0.0002	0.0040	0.0102	0.0390	0.0090232	1395	154602	rs56943541	0.0062	0.0062	0.0051	0.0073	0.0404	0.0061	0.0060	0.0393	0.0388	0.0192	0.0040	0.0082	0.0002	0.0004	0.0156	0.0035	0.0080	0.0404	0.0092	0.0093	0.0089	0.0096	0.0391	0.0088	0.0087	0.0346	0.0328	0.0191	0.0011	0.0060	0.0075	0.0008	0.0003	0.0238	0.0039	0.0128	0.0391	0.0	0.91255	D	0.321	0.19073	T	.	.	.	.	.	.	0.277752	0.15003	N	0.551928	1	0.18198	N	.	.	.	0.96	0.42888	T	-0.5	0.15782	N	0.187	0.41853	-1.1053	0.03507	T	0.018	0.07565	T	10	0.0030997694	0.00051	T	.	.	.	0.034	0.08419	.	.	0.0138822411134	0.00435	0.005676888620947402	0.00537	.	.	0.379200518131	0.22144	T	.	.	.	-0.610085	0.00126	T	-0.619845	0.11197	T	0.0369301723646151	0.03144	T	0.491951	0.15143	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.22208	B	.;.	.;.	1.041610	0.14225	10.80	0.46889329741341601	0.03791	0.01682	0.05369	N	AEFBI	0.057494	0.10715	N	-0.773186617132331	0.14011	0.6945784	-0.859506745960561	0.13059	0.6753832	5.42944761998302E-5	0.04171	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	2.78	2.78	0.31702	1.293000	0.32959	-0.008000	0.13101	0.588000	0.31329	0.010000	0.18352	0.000000	0.08366	0.004000	0.06068	0.0:0.145:0.0:0.855	4.692	0.12168	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	5146.11	67	chr3	195788852	.	T	C	5146.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.19;DP=1580;ExcessHet=0.1072;FS=7.401;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=18.99;ReadPosRankSum=-6.000e-02;SOR=0.852	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,64:118:99:0|1:195788852_T_C:2497,0,2064:195788852	19	0	2	0
chr3	196707772	196707772	C	G	exonic	CEP19	.	nonsynonymous SNV	CEP19:NM_001379468:exon2:c.G166C:p.E56Q	Morbid obesity and spermatogenic failure, Autosomal recessive	.	435	1086	1	0	0	1	0.000460193	.	.	763792	not_provided|CEP19-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.14	T	0.003	B	0.007	B	0.000	N	1.000	D	1.995	M	.	.	-0.648	T	0.213	T	0.084	1.904	12.33	4.67	1.423	3.102	11.712	0.046	.	8.3e-05	0.00259585	0.0021	0.0001	0	0.0043	0	5.994e-05	0	0.0128	0.0018111	280	154602	rs139813132	0.0008	0.0008	0.0005	0.0012	0.0110	0.0008	0.0008	0.0105	0.0102	2.987e-05	8.944e-05	0	0.0044	0	0.0005	3.147e-05	0.0011	0.0110	0.0005	0.0005	0.0003	0.0006	0.0101	0.0004	0.0003	0.0079	0.0071	4.813e-05	0	0	0	0.0035	0	0	1.47e-05	0.0005	0.0101	0.162	0.23541	T	0.401	0.17217	T	.	.	.	.	.	.	0.000254	0.46924	N	0.247626	0.775292	0.34200	D	.	.	.	.	.	.	-1.03	0.28290	N	0.085	0.06190	-0.6481	0.62797	T	0.213	0.57347	T	9	0.0044844747	0.00092	T	.	.	.	0.046	0.12618	.	.	0.544260415555	0.54080	0.2359136708171371	0.23506	0.0722551291623	0.08109	0.38592222333	0.23093	T	.	.	.	-0.524764	0.00412	T	-0.517169	0.20581	T	0.0210804538782471	0.00810	T	0.722228	0.33571	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.10979	B	.;.	.;.	2.038422	0.25908	16.93	0.98276774102695175	0.39814	0.97882	0.77839	D	AEFDGBIJ	0.626242	0.60914	D	-0.0283542450733666	0.40574	2.41189	0.111324431330111	0.45126	2.781436	0.999999988186644	0.74766	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.649648	0.60094	0	.	.	5.56	4.67	0.58089	3.147000	0.50335	1.420000	0.26356	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.8069:0.1245:0.0686	11.712	0.50893	867	0.32089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	2198.98	42	chr3	196707772	.	C	G	2198.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=913;ExcessHet=0.0000;FS=1.128;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=-1.132e+00;SOR=0.791	GT:AD:DP:GQ:PL	0/1:101,87:188:99:2213,0,2508	20	0	1	0
chr3	196948448	196948448	G	A	exonic	PIGZ	.	nonsynonymous SNV	PIGZ:NM_025163:exon3:c.C449T:p.P150L,	.	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.0	B	0.001	B	0.264	N	1.000	N	-1.78	N	0.18	T	-1.001	T	0.013	T	0.066	-0.906	0.426	-4.74	-1.455	-0.545	5.876	0.061	.	0.0002	0.00798722	0.0027	0.0001	0.0002	0.0220	0	4.624e-05	0	0.0075	0.0025161	389	154602	rs75314175	0.0013	0.0013	0.0012	0.0015	0.0278	0.0013	0.0013	0.0264	0.0259	8.961e-05	0.0002	0	0.0278	0	0.0005	7.914e-05	0.0016	0.0075	0.0012	0.0013	0.0011	0.0014	0.0247	0.0011	0.0010	0.0212	0.0199	0.0002	0	0.0007	0	0.0247	0	0	0.0001	0.0009	0.0072	0.966	0.02070	T	0.769	0.04492	T	0.0	0.02946	B	0.001	0.04355	B	0.263799	0.15262	N	0.534734	1	0.18612	N	-2.075	0.00166	N	0.18	0.60361	T	2.04	0.00388	N	0.044	0.01658	-1.0008	0.29688	T	0.013	0.05129	T	10	0.002756685	0.00043	T	.	.	.	0.061	0.17616	.	.	0.362361684037	0.35846	0.11748832415957511	0.11676	0.127361370349	0.14354	0.301235377789	0.10584	T	0.001209	0.00701	T	-0.643389	0.00079	T	-0.682024	0.06860	T	0.00767491012867851	0.00089	T	0.121488	0.00940	T	0.026495904	0.01714	0.03658137	0.03134	0.026495904	0.01713	0.03658137	0.03134	-1.702	0.02234	T	.	.	0.057	0.00563	B	.	.	-0.406378	0.02190	0.216	0.81154015780439503	0.13545	0.03598	0.08824	N	AEFDGBHCI	.	.	.	-1.70104703746559	0.00838	0.03624282	-1.65807512292433	0.01334	0.06023607	0.999999999982899	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.505578	0.09266	0	0.638833	0.57524	0	.	.	5.25	-4.74	0.03013	-0.343000	0.07838	0.747000	0.21206	-0.051000	0.17024	0.000000	0.06391	0.001000	0.17328	0.274000	0.23868	0.2346:0.541:0.1245:0.0999	5.876	0.18076	650	0.62973	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2354.98	34	chr3	196948448	.	G	A	2354.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.61;DP=1174;ExcessHet=0.0000;FS=5.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.19;ReadPosRankSum=-9.580e-01;SOR=0.802	GT:AD:DP:GQ:PL	0/1:70,85:155:99:2369,0,1661	20	0	1	0
chr4	689091	689091	C	T	exonic	SLC49A3	.	nonsynonymous SNV	SLC49A3:NM_001294341:exon1:c.G37A:p.E13K	.	.	414	1093	15	0	0	15	0.00681508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.976	D	0.253	B	0.005	N	0.850	N	0	N	-2.89	D	-0.102	T	0.506	D	0.135	2.445	14.14	1.95	0.491	-0.697	7.618	0.266	.	0.0025	0.0103834	0.0169	0.0006	0.0046	0.0103	0.0035	0.0084	0.0225	0.0444	0.0061513	951	154602	rs200792845	0.0059	0.0058	0.0053	0.0065	0.0287	0.0058	0.0057	0.0277	0.0273	0.0007	0.0026	0.0050	0.0050	0.0007	0.0147	0.0046	0.0068	0.0287	0.0038	0.0038	0.0035	0.0041	0.0292	0.0035	0.0034	0.0253	0.0238	0.0007	0.0044	0.0032	0.0052	0.0054	0.0004	0.0034	0.0042	0.0057	0.0292	0.041	0.41915	D	0.117	0.46862	T	0.976	0.58310	D	0.253	0.39112	B	0.005448	0.01079	N	3.018490	1	0.08975	N	.	.	.	-3.65	0.95179	D	-1.24	0.33998	N	0.351	0.39254	-0.1020	0.80052	T	0.506	0.81387	D	10	0.0037614107	0.00070	T	.	.	.	0.266	0.57999	.	.	.	.	0.4377719039113401	0.43694	0.18652948801	0.20965	0.67194545269	0.63115	T	0.054875	0.29848	T	-0.375784	0.03311	T	-0.286802	0.46105	T	0.0159443126777954	0.00378	T	0.562444	0.19755	T	0.033334464	0.03532	0.045078054	0.05985	0.033334464	0.03532	0.045078054	0.05985	-5.478	0.42045	T	.	.	0.131	0.34316	B	.;.;.;.;.	.;.;.;.;.	1.022861	0.14027	10.59	0.97768630504944953	0.35857	0.06768	0.12791	N	AEFDBHCI	0.064944	0.12640	N	-0.772653516134243	0.14025	0.6953962	-0.882613018244024	0.12505	0.6436769	0.999999326871293	0.74766	0.65757	0.49021	0	0.616935	0.53198	0	0.619478	0.44681	0	0.492483	0.08430	1	.	.	2.85	1.95	0.25130	-0.052000	0.11821	.	.	-1.093000	0.01529	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7347:0.2653:0.0	7.618	0.27336	900	0.24599	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1292.98	40	chr4	689091	.	C	T	1292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.683;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=-6.060e-01;SOR=0.638	GT:AD:DP:GQ:PL	0/1:49,55:104:99:1307,0,1035	20	0	1	0
chr4	1023652	1023652	C	T	exonic	FGFRL1	.	nonsynonymous SNV	FGFRL1:NM_021923:exon3:c.C364T:p.P122S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.004	B	0.129	N	1.000	N	-0.205	N	-0.23	T	-1.015	T	0.089	T	0.117	-1.675	0.012	0.884	0.183	-1.205	1.460	0.042	0.0778039417912	.	.	0.0002	0	0	0	0	0	0	0.0012	8.41e-05	13	154602	rs755924836	4.065e-05	4.241e-05	1.643e-05	6.518e-05	0.0007	3.201e-05	2.931e-05	0.0005	0.0005	0	0	0	0	0	0	0	5.01e-05	0.0007	2.63e-05	2.627e-05	0	5.383e-05	0.0008	8.15e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.944	0.05198	T	0.57	0.08808	T	0.002	0.09854	B	0.004	0.10090	B	0.128964	0.18712	N	0.558118	1	0.08975	N	1.01	0.25309	L	-0.69	0.72678	T	-0.38	0.42763	N	0.13	0.12484	-1.0151	0.25304	T	0.089	0.34408	T	10	0.016295314	0.00343	T	0.077804	0.72856	D	0.042	0.11227	0.385	0.40460	0.514671000977	0.51109	0.278262011722841	0.27739	0.142493270988	0.16072	0.470772385597	0.34786	T	0.084	0.37114	T	-0.451244	0.01111	T	-0.507687	0.21552	T	0.0463060066103935	0.04839	T	0.707729	0.31835	T	0.028111288	0.02100	0.035514608	0.02818	0.028111288	0.02099	0.035514608	0.02818	-4.262	0.27641	T	.	.	0.082	0.25034	B	.;.;.;.;.	.;.;.;.;.	0.033021	0.04515	1.216	0.72230356182970623	0.09901	0.01760	0.05534	N	AEFBI	0.045220	0.07371	N	-1.23291456558128	0.04530	0.2046269	-1.17518457114161	0.06326	0.3041856	0.0159818765905392	0.12778	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.24	0.884	0.18317	-0.910000	0.04163	0.063000	0.14158	0.584000	0.30380	0.000000	0.06391	0.000000	0.08366	0.587000	0.31065	0.151:0.4129:0.1508:0.2852	1.460	0.02248	878	0.29785	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	675.98	34	chr4	1023652	.	C	T	675.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.215;DP=754;ExcessHet=0.0000;FS=2.316;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=-1.398e+00;SOR=0.689	GT:AD:DP:GQ:PL	0/1:27,26:53:99:690,0,805	20	0	1	0
chr4	1351818	1351818	C	T	exonic	UVSSA	.	nonsynonymous SNV	UVSSA:NM_001317934:exon4:c.C533T:p.A178V	UV-sensitive syndrome 3, Autosomal recessive	.	0	1512	10	0	0	10	0.00329598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.968	D	0.403	B	0.000	D	1.000	D	1.44	L	1.48	T	-1.072	T	0.083	T	0.583	3.154	16.55	5.11	2.389	4.523	18.527	0.139	0.0266340579345	.	.	0.0002	0	8.718e-05	0	0	0	0.0011	0.0016	0.0001876	29	154602	rs373828028	0.0001	0.0001	6.537e-05	0.0002	0.0013	9.945e-05	9.354e-05	0.0011	0.0010	0	0	0	0	0	0.0012	2.879e-05	0.0003	0.0013	3.938e-05	3.937e-05	1.284e-05	6.711e-05	0.0008	1.714e-05	1.128e-05	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0008	0.025	0.47320	D	0.008	0.67890	D	0.968	0.56581	D	0.403	0.44588	B	0.000003	0.62929	D	0.102838	0.999998	0.58761	D	1.99	0.53851	M	1.48	0.31731	T	-2.13	0.48354	N	0.497	0.53357	-1.0722	0.08936	T	0.083	0.32499	T	10	0.043649048	0.03237	T	0.026634	0.49530	D	0.139	0.37390	.	.	0.144782658237	0.14088	0.060773034816232294	0.06017	0.106089494125	0.11996	0.402099132538	0.25362	T	0.02497	0.18762	T	-0.37026	0.03581	T	-0.334708	0.40943	T	0.088393822312355	0.11025	T	0.656934	0.26653	T	0.2069696	0.42889	0.1725506	0.39518	0.19224231	0.40886	0.17018466	0.39107	-7.897	0.60366	D	0.4450468896175523	0.52987	0.216	0.44501	B	.;.;.	.;.;.	4.113866	0.61441	24.3	0.99766147989002574	0.85500	0.93557	0.58542	D	AEFDGBCIJ	0.393382	0.47105	N	0.217886088990928	0.52066	3.383255	0.205512522432261	0.50152	3.210364	0.999999999999987	0.74766	0.631981	0.41245	0	0.26897	0.04874	2	0.779548	0.98927	0	0.683535	0.66460	0	.	.	5.11	5.11	0.69188	4.608000	0.60847	3.786000	0.39810	0.599000	0.40250	0.999000	0.42656	0.999000	0.35428	0.139000	0.19909	0.0:1.0:0.0:0.0	18.527	0.90928	795	0.45444	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3174.11	35	chr4	1351818	.	C	T	3174.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.64;DP=921;ExcessHet=0.1072;FS=1.605;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=-9.810e-01;SOR=0.572	GT:AD:DP:GQ:PL	0/1:56,85:141:99:2009,0,1143	19	0	2	0
chr4	2939269	2939269	C	A	exonic	NOP14	.	nonsynonymous SNV	NOP14:NM_001291978:exon17:c.G2393T:p.R798L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.975	D	0.000	D	1.000	D	3.07	M	1.28	T	-0.425	T	0.270	T	0.573	4.514	24.3	4.59	2.837	3.046	14.799	0.276	0.0370842099886	.	0.000399361	0.0001	0	0	0	0	0	0.0011	0.0008	0.00011	17	154602	rs148382749	6.363e-05	6.362e-05	3.676e-05	9.077e-05	0.0010	5.295e-05	4.911e-05	0.0009	0.0008	0	0	0	0	0	0	0	4.968e-05	0.0010	3.938e-05	3.937e-05	1.284e-05	6.71e-05	0.0012	1.714e-05	1.128e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.004	0.65419	D	0.006	0.70582	D	0.999	0.77913	D	0.975	0.73362	D	0.000011	0.62929	D	0.066852	0.999996	0.81001	D	3.625	0.93960	H	1.28	0.35960	T	-5.0	0.82341	D	0.705	0.70878	-0.4253	0.71219	T	0.270	0.64151	T	10	0.2474204	0.42022	T	0.037084	0.57399	D	0.276	0.59253	0.51	0.60693	0.596902567841	0.59370	0.4492451448772041	0.44842	0.477294101993	0.46845	0.623506903648	0.56225	T	0.142319	0.47785	T	-0.272317	0.11500	T	-0.236746	0.51116	T	0.975561082363129	0.70990	D	0.90391	0.66280	D	0.50196344	0.67210	0.44563764	0.67705	0.50196344	0.67211	0.44563764	0.67705	-11.441	0.82021	D	.	.	0.614	0.69501	P	.;.	.;.	4.912417	0.80831	27.4	0.99849896491152001	0.92925	0.94615	0.61745	D	AEFBCI	0.534674	0.55362	D	0.771482244969588	0.84294	8.248098	0.694119312694823	0.81933	7.643681	0.999999984494812	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.44	4.59	0.56297	3.754000	0.54903	4.770000	0.44768	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.989000	0.64315	0.0:0.9296:0.0:0.0704	14.799	0.69523	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	2506.98	35	chr4	2939269	.	C	A	2506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.81;DP=941;ExcessHet=0.0000;FS=0.504;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=1.20;SOR=0.622	GT:AD:DP:GQ:PL	0/1:121,96:217:99:2521,0,2997	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|2:23,0,28,0,0,0,0:51:99:0|1:3074876_CCAGCAG_C:898,967,1731,0,764,679,967,1731,764,1731,967,1731,764,1731,1731,967,1731,764,1731,1731,1731,967,1731,764,1731,1731,1731,1731:3074876	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|2:23,0,28,0,0,0,0:51:99:0|1:3074876_CCAGCAG_C:898,967,1731,0,764,679,967,1731,764,1731,967,1731,764,1731,1731,967,1731,764,1731,1731,1731,967,1731,764,1731,1731,1731,1731:3074876	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|2:23,0,28,0,0,0,0:51:99:0|1:3074876_CCAGCAG_C:898,967,1731,0,764,679,967,1731,764,1731,967,1731,764,1731,1731,967,1731,764,1731,1731,1731,967,1731,764,1731,1731,1731,1731:3074876	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|2:23,0,28,0,0,0,0:51:99:0|1:3074876_CCAGCAG_C:898,967,1731,0,764,679,967,1731,764,1731,967,1731,764,1731,1731,967,1731,764,1731,1731,1731,967,1731,764,1731,1731,1731,1731:3074876	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|2:23,0,28,0,0,0,0:51:99:0|1:3074876_CCAGCAG_C:898,967,1731,0,764,679,967,1731,764,1731,967,1731,764,1731,1731,967,1731,764,1731,1731,1731,967,1731,764,1731,1731,1731,1731:3074876	3	1	1	0
chr4	3074923	3074925	AGC	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	1002.47	26	chr4	3074923	.	AGC	A,*	1002.47	.	AC=2,3;AF=0.048,0.071;AN=42;BaseQRankSum=0.00;DP=1062;ExcessHet=1.1607;FS=3.015;InbreedingCoeff=-0.1290;MLEAC=2,2;MLEAF=0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=5.28;ReadPosRankSum=3.05;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,24,0:55:99:1|0:3074876_CCAGCAG_C:713,0,998,806,1070,1876:3074876	16	0	2	0
chr4	3074926	3074930	AGCAG	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	.	0	201	8	1	16	26	0.0242718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	996.46	26	chr4	3074926	.	AGCAG	A,ACAG,*	996.46	.	AC=1,1,3;AF=0.024,0.024,0.071;AN=42;BaseQRankSum=-1.289e+00;DP=1053;ExcessHet=1.1607;FS=3.015;InbreedingCoeff=-0.1290;MLEAC=1,1,2;MLEAF=0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=5.24;ReadPosRankSum=3.07;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,24,0,0:55:99:1|0:3074876_CCAGCAG_C:713,0,998,806,1070,1876,806,1070,1876,1876:3074876	16	0	1	0
chr4	3074927	3074927	G	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	.	4	1369	54	4	91	153	0.0221429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	957.88	16	chr4	3074927	.	G	GCAA,*	957.88	.	AC=3,5;AF=0.071,0.119;AN=42;BaseQRankSum=-8.410e-01;DP=1050;ExcessHet=0.5418;FS=3.188;InbreedingCoeff=0.0867;MLEAC=3,4;MLEAF=0.071,0.095;MQ=59.47;MQRankSum=2.60;QD=4.01;ReadPosRankSum=3.51;SOR=0.920	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:31,0,24:55:99:1|0:3074876_CCAGCAG_C:713,806,1876,0,1070,998:3074876	14	0	2	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.01	B	0.01	B	0.003	N	0.997	D	1.87	L	.	.	-0.870	T	0.178	T	0.274	3.086	16.31	1.7	0.426	3.325	6.857	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	7325.55	151	chr4	6862306	.	T	C	7325.55	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.348e+00;DP=3019;ExcessHet=54.0936;FS=242.021;InbreedingCoeff=-0.9914;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.50;ReadPosRankSum=0.996;SOR=13.535	GT:AD:DP:GQ:PL	0/1:106,42:148:99:359,0,2473	0	0	21	0
chr4	8214523	8214523	G	A	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon5:c.G196A:p.V66M	.	.	429	1090	3	0	0	3	0.00137426	.	.	3318184	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.99	D	0.757	P	0.054	N	1.000	N	1.445	L	-1.18	T	-0.593	T	0.393	T	0.336	3.466	17.75	2.52	0.425	0.728	5.239	0.281	0.0237374566327	7.7e-05	.	7.426e-05	0	0	0	0	0.0001	0	6.058e-05	8.41e-05	13	154602	rs200132766	8.688e-05	8.687e-05	7.896e-05	9.489e-05	0.0047	7.421e-05	6.97e-05	0.0033	0.0028	0.0003	0.0003	0	0	0	0.0047	5.756e-05	0.0002	3.478e-05	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0006	0.0005	2.406e-05	0	0.0010	0	0	0	0	7.351e-05	0.0014	0.0004	0.017	0.51248	D	0.033	0.53072	D	0.99	0.63424	D	0.757	0.56292	P	0.053720	0.22785	N	0.371121	0.991322	0.24050	N	2.34	0.67151	M	-1.22	0.78752	T	-1.24	0.31778	N	0.403	0.44379	-0.5926	0.65117	T	0.393	0.74685	T	10	0.13891798	0.26417	T	0.023737	0.46713	T	0.281	0.59861	.	.	0.637288232684	0.63431	0.26691754370024334	0.26604	0.0512075118454	0.05634	0.715992033482	0.69463	T	0.065852	0.32796	T	-0.21003	0.19374	T	-0.237748	0.51019	T	0.0863715158960548	0.10782	T	0.805419	0.45334	T	0.0729317	0.16260	0.079522744	0.17908	0.0729317	0.16260	0.079522744	0.17908	-8.515	0.64528	D	.	.	0.098	0.23848	B	.;.	.;.	2.912210	0.38636	20.8	0.99873951637034364	0.95160	0.38362	0.25971	N	AEFGBCI	0.082931	0.16796	N	0.116318572554302	0.47225	2.951119	0.0428579711456983	0.41729	2.511808	0.995610432670052	0.34224	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	4.32	2.52	0.29514	0.377000	0.20282	0.386000	0.17834	0.672000	0.70159	0.218000	0.24513	0.016000	0.20520	0.995000	0.73285	0.1899:0.1717:0.6384:0.0	5.239	0.14782	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	0	0	0	0	0.04762	1301.06	34	chr4	8214523	.	G	A,*	1301.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.612;DP=926;ExcessHet=0.1072;FS=3.656;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=5.23;ReadPosRankSum=-1.427e+00;SOR=0.828	GT:AD:DP:GQ:PL	0/1:63,56,0:119:99:1315,0,1465,1503,1633,3136	19	0	1	0
chr4	8214523	8214523	G	0	exonic	SH3TC1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1301.06	34	chr4	8214523	.	G	A,*	1301.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.612;DP=926;ExcessHet=0.1072;FS=3.656;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=5.23;ReadPosRankSum=-1.427e+00;SOR=0.828	GT:AD:DP:GQ:PL	0/1:63,56,0:119:99:1315,0,1465,1503,1633,3136	19	0	1	0
chr4	8227486	8227486	T	C	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon12:c.T1564C:p.F522L	.	.	397	1121	4	0	0	4	0.00178094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.022	B	0.022	B	0.236	N	1.000	N	1.175	L	0.05	T	-1.017	T	0.126	T	0.202	-0.585	1.374	1.41	0.129	1.608	5.733	0.072	0.0257577058946	0.0007	0.000199681	0.0005	0	0.0004	0	0	0.0007	0.0013	0.0001	0.0004786	74	154602	rs146105309	0.0005	0.0005	0.0004	0.0005	0.0239	0.0004	0.0004	0.0206	0.0194	0.0004	0.0005	0.0122	0	0	0.0239	0.0001	0.0012	3.876e-05	0.0007	0.0007	0.0007	0.0008	0.0024	0.0006	0.0006	0.0017	0.0015	0.0002	0	0.0024	0.0104	0	0	0.0068	0.0003	0.0019	0.0008	0.645	0.04928	T	0.621	0.07419	T	0.022	0.18677	B	0.022	0.19653	B	0.235970	0.15817	N	0.662296	1	0.08975	N	1.725	0.44537	L	0.05	0.61923	T	-2.11	0.48020	N	0.173	0.18512	-1.0166	0.24819	T	0.126	0.43194	T	10	0.0074889064	0.00170	T	0.025758	0.48712	D	0.072	0.21020	0.532	0.64002	0.434825671192	0.43100	0.16459802777303673	0.16379	0.030042904158	0.03099	0.583178520203	0.50533	T	0.006265	0.05696	T	-0.352976	0.04543	T	-0.428646	0.30089	T	0.0129742181183722	0.00225	T	0.651635	0.26249	T	0.071747236	0.15907	0.06976249	0.14741	0.071747236	0.15907	0.06976249	0.14740	-8.072	0.61560	D	.	.	0.538	0.66286	A	.	.	0.957641	0.13342	9.844	0.65296955756202024	0.07733	0.17998	0.20076	N	AEFDBCI	0.114487	0.22547	N	-0.882751606797281	0.11253	0.5420424	-0.876736388918016	0.12646	0.651722	0.99996562747028	0.48965	0.722319	0.85440	0	0.698795	0.70079	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	4.47	1.41	0.21461	1.207000	0.31938	-0.744000	0.07606	0.578000	0.29377	0.011000	0.18532	0.000000	0.08366	0.074000	0.16894	0.0:0.1085:0.1637:0.7278	5.733	0.17322	988	0.01987	.	.	.	.	.	.	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	1038.98	44	chr4	8227486	.	T	C	1038.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.200e-01;DP=1073;ExcessHet=0.0000;FS=0.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.19;ReadPosRankSum=-4.980e-01;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,47:113:99:0|1:8227486_T_C:1053,0,1659:8227486	20	0	1	0
chr4	8237515	8237515	G	A	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon17:c.G3370A:p.A1124T	.	.	413	1105	4	0	0	4	0.00180668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.014	B	0.006	B	0.994	N	1.000	N	-0.405	N	-0.97	T	-0.978	T	0.118	T	0.217	-0.544	1.531	-1.18	-0.183	-0.337	10.040	0.111	0.00918524207338	0.0008	0.000599042	0.0007	0	0.0007	0	0	0.0010	0.0017	0.0003	0.0005239	81	154602	rs149203434	0.0005	0.0005	0.0005	0.0005	0.0191	0.0005	0.0005	0.0161	0.0149	0.0003	0.0008	0.0130	5.096e-05	0	0.0191	0.0001	0.0014	0.0001	0.0007	0.0007	0.0006	0.0007	0.0025	0.0006	0.0005	0.0019	0.0016	0.0001	0	0.0025	0.0104	0	0	0.0068	0.0002	0.0019	0.0006	1.0	0.00964	T	0.781	0.04316	T	0.014	0.16867	B	0.006	0.12133	B	0.994193	0.07922	N	1.002860	1	0.08975	N	-0.075	0.04822	N	-1.01	0.76168	T	0.99	0.01428	N	0.139	0.13769	-0.9781	0.35435	T	0.118	0.41407	T	10	0.0046999454	0.00099	T	0.009185	0.24130	T	0.111	0.31313	.	.	0.395143324098	0.39128	0.06861941220652927	0.06799	0.0283681979024	0.02914	0.35799908638	0.19094	T	8.03E-4	0.00390	T	-0.382824	0.02990	T	-0.449284	0.27775	T	0.0117859446057927	0.00182	T	0.70183	0.31167	T	0.02138212	0.00737	0.05477785	0.09486	0.02138212	0.00737	0.05477785	0.09485	-4.85	0.35168	T	.	.	0.070	0.03625	B	.	.	0.608785	0.09770	6.539	0.82643270396600221	0.14299	0.08830	0.14700	N	AEFBCI	0.083049	0.16822	N	-1.29142965012314	0.03778	0.1693634	-1.1793929219866	0.06255	0.3005019	0.999709741529201	0.41986	0.67177	0.52595	0	0.697927	0.68747	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	4.32	-1.18	0.09122	-0.553000	0.06104	-2.370000	0.03839	-0.264000	0.06851	0.000000	0.06391	0.000000	0.08366	0.388000	0.26514	0.4928:0.0:0.5072:0.0	10.040	0.41323	988	0.01987	.	.	.	.	.	.	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	1465.98	35	chr4	8237515	.	G	A	1465.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.163e+00;DP=832;ExcessHet=0.0000;FS=1.728;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.76;ReadPosRankSum=-1.060e+00;SOR=0.945	GT:AD:DP:GQ:PL	0/1:37,56:93:99:1480,0,925	20	0	1	0
chr4	9211747	9211747	G	C	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.G1091C:p.S364T,	.	.	1174	336	2	10	0	22	0.0317003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	N	1.000	N	1.315	L	1.44	T	-1.051	T	0.063	T	0.105	1.410	10.65	0.337	0.444	0.791	.	0.081	0.00494424693079	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs767608503	0.0002	0.0082	0.0003	0.0002	0.0078	0.0002	0.0001	0.0034	0.0023	0.0078	0	0	0.0002	0	0.0031	0.0001	0	0.0006	5.137e-05	0.0033	0.0001	0	9.074e-05	0	0	.	.	0	0	0	0	0	0	0	9.074e-05	0	0	0.076	0.34269	T	0.054	0.48855	T	.	.	.	.	.	.	0.028604	0.25577	N	0.364420	1	0.81001	D	1.835	0.48228	L	1.44	0.32722	T	-1.96	0.45404	N	0.159	0.16586	-1.0508	0.14175	T	0.063	0.26244	T	6	0.003203094	0.00054	T	0.004944	0.12442	T	0.081	0.23632	.	.	0.115124310173	0.11017	0.003919566913084639	0.00366	.	.	0.562705755234	0.47649	T	0.008268	0.07601	T	-0.704426	0.00034	T	-0.640815	0.09609	T	0.0273817175275639	0.01599	T	0.671133	0.27986	T	0.13559984	0.31465	0.17054746	0.39172	0.13559984	0.31465	0.17054746	0.39171	-6.914	0.53403	T	.	.	0.119	0.24430	B	.;.	.;.	2.086132	0.26537	17.15	0.96272064017356607	0.29254	0.17629	0.19919	N	AEFI	0.075364	0.15131	N	-0.536111108855572	0.20921	1.106491	-0.696549762316435	0.17046	0.9046486	1.109225597663E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	0.028000	0.13533	.	.	-0.732000	0.03721	0.048000	0.21332	0.000000	0.08366	0.226000	0.22626	.	.	.	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1818	81.76	150	chr4	9211747	.	G	C	81.76	.	AC=4;AF=0.182;AN=22;DP=150;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5367;MLEAC=4;MLEAF=0.182;MQ=41.27;QD=20.44;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	9	2	0	10
chr4	53352667	53352667	G	A	exonic	SCFD2	.	nonsynonymous SNV	SCFD2:NM_152540:exon2:c.C938T:p.A313V,	.	.	435	1048	36	3	0	42	0.0196445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.008	B	0.008	B	0.000	D	1.000	N	0	N	-2.01	D	-0.790	T	0.318	T	0.271	1.165	9.740	4.15	0.849	3.548	11.600	0.244	.	0.0018	0.0127796	0.0081	0.0003	0.0021	0	0	0.0025	0.0155	0.0472	0.0072121	1115	154602	rs147606542	0.0044	0.0044	0.0029	0.0059	0.0484	0.0043	0.0043	0.0472	0.0467	0.0007	0.0010	0.0102	7.557e-05	0	0.0165	0.0013	0.0057	0.0484	0.0029	0.0030	0.0023	0.0037	0.0483	0.0027	0.0026	0.0432	0.0412	0.0003	0	0.0012	0.0153	0	9.422e-05	0.0102	0.0018	0.0033	0.0483	0.161	0.34621	T	0.007	0.69154	D	0.005	0.14655	B	0.003	0.13708	B	0.000005	0.62929	D	0.060828	0.999646	0.20796	N	0.345	0.11182	N	-2.01	0.85468	D	-1.22	0.32387	N	0.333	0.37613	-0.7904	0.55706	T	0.318	0.68779	T	10	0.0073967874	0.00168	T	.	.	.	0.244	0.55061	.	.	0.80504618492	0.80322	0.24291852783345025	0.24205	0.195167961447	0.21852	0.373945266008	0.21396	T	0.185283	0.53820	T	-0.361719	0.04034	T	-0.256591	0.49163	T	0.0184760098629361	0.00563	T	0.852615	0.53799	D	0.039329845	0.05411	0.056673326	0.10169	0.039329845	0.05410	0.056673326	0.10169	-4.853	0.38408	T	.	.	0.145	0.31980	B	.;.;.;.	.;.;.;.	1.982650	0.25189	16.67	0.94545149459678823	0.25056	0.74740	0.36570	D	AEFDBI	0.137870	0.25899	N	-0.668099569290839	0.16934	0.8671762	-0.498975521825984	0.22182	1.203574	0.99253700277276	0.32874	0.732398	0.92422	0	0.724815	0.89359	0	0.608884	0.39905	0	0.727631	0.95156	0	.	.	5.33	4.15	0.47978	3.576000	0.53622	3.493000	0.38728	-0.166000	0.11466	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	0.0:0.0:0.1497:0.8503	11.600	0.50254	611	0.66908	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1271.11	41	chr4	53352667	.	G	A	1271.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.586;DP=824;ExcessHet=0.1072;FS=0.627;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.89;ReadPosRankSum=1.08;SOR=0.759	GT:AD:DP:GQ:PL	0/1:49,29:78:99:681,0,1224	19	0	2	0
chr4	53478601	53478601	C	T	exonic	LNX1	.	nonsynonymous SNV	LNX1:NM_032622:exon7:c.G1339A:p.G447R	.	.	435	1081	6	0	0	6	0.00276753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.996	D	0.936	D	0.000	D	1.000	D	2.325	M	1.02	T	-0.793	T	0.241	T	0.489	4.123	21.3	4.92	2.715	5.065	18.671	0.244	.	0.0002	0.00279553	0.0023	9.621e-05	0.0005	0	0	0.0004	0.0022	0.0148	0.001934	299	154602	rs376500430	0.0011	0.0011	0.0006	0.0016	0.0159	0.0011	0.0011	0.0152	0.0150	2.987e-05	0.0002	3.829e-05	5.04e-05	0	0.0023	0.0002	0.0015	0.0159	0.0007	0.0007	0.0003	0.0010	0.0147	0.0006	0.0005	0.0120	0.0110	0	0	0.0006	0	0	0	0	0.0003	0	0.0147	0.093	0.31532	T	0.125	0.35330	T	0.996	0.68779	D	0.766	0.67150	P	0.000012	0.62929	D	0.119366	1	0.81001	D	2.59	0.75718	M	1.02	0.40749	T	-1.55	0.39314	N	0.558	0.58287	-0.7933	0.55537	T	0.241	0.60953	T	10	0.015095741	0.00317	T	.	.	.	0.244	0.55061	0.897	0.97640	0.675902767571	0.67315	0.4400213059936803	0.43919	0.415149338559	0.42179	0.596617400646	0.52427	T	0.137294	0.47015	T	-0.382521	0.03003	T	-0.309917	0.43667	T	0.0690486747686438	0.08518	T	0.925707	0.72678	D	0.27302185	0.50371	0.20425473	0.44541	0.27302185	0.50370	0.20425473	0.44540	-8.04	0.64798	D	.	.	0.255	0.48998	B	.;.	.;.	4.566505	0.72014	25.8	0.99926548202128795	0.99103	0.88238	0.48077	D	AEFBCI	0.696865	0.65506	D	0.617818607716982	0.74303	6.109544	0.59868830631613	0.74844	6.20698	0.999999997720379	0.74766	0.653281	0.48532	0	0.588015	0.36545	0	0.675528	0.61593	0	0.655142	0.61905	0	.	.	4.92	4.92	0.64147	5.220000	0.65099	7.709000	0.66702	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.806000	0.37994	0.0:1.0:0.0:0.0	18.671	0.91468	419	0.81524	.;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2140.98	35	chr4	53478601	.	C	T	2140.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=890;ExcessHet=0.0000;FS=3.682;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=0.748;SOR=0.449	GT:AD:DP:GQ:PL	0/1:81,84:165:99:2155,0,1948	20	0	1	0
chr4	70158722	70158722	-	GCCTGCTGCAGAGGCACCTGT	exonic	PRR27	.	nonframeshift insertion	PRR27:NM_214711:exon3:c.470_471insGCCTGCTGCAGAGGCACCTGT:p.V164_G165insPAAEAPV,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.092e-06	2.091e-06	1.386e-06	2.807e-06	0.0002	5.6e-07	1.5e-07	3.1e-07	1.1e-07	0	0	0	0	0	0.0002	1.834e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1582.11	79	chr4	70158722	.	A	AGCCTGCTGCAGAGGCACCTGT,*	1582.11	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-1.141e+00;DP=1077;ExcessHet=0.3300;FS=2.767;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=5.93;ReadPosRankSum=-1.805e+00;SOR=0.544	GT:AD:DP:GQ:PL	0/2:61,0,29:90:99:1054,1237,3777,0,2540,2420	18	0	1	0
chr4	70158722	70158722	A	0	exonic	PRR27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1582.11	79	chr4	70158722	.	A	AGCCTGCTGCAGAGGCACCTGT,*	1582.11	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-1.141e+00;DP=1077;ExcessHet=0.3300;FS=2.767;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=5.93;ReadPosRankSum=-1.805e+00;SOR=0.544	GT:AD:DP:GQ:PL	0/2:61,0,29:90:99:1054,1237,3777,0,2540,2420	18	0	1	0
chr4	76175822	76175822	C	T	exonic	SCARB2	.	nonsynonymous SNV	SCARB2:NM_001204255:exon3:c.G364A:p.V122I	Epilepsy, progressive myoclonic 4, with or without renal failure, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.001	B	0.007	B	0.278	N	1.000	N	0.455	N	-0.6	T	-0.976	T	0.176	T	0.04	1.765	11.86	-2.31	-0.439	-0.540	6.751	0.059	0.0225789332828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.209e-06	8.209e-06	9.529e-06	6.876e-06	1.079e-05	4.38e-06	3.46e-06	5.75e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.18889	T	0.236	0.27855	T	0.0	0.02946	B	0.002	0.06944	B	0.277640	0.03813	N	1.421770	0.999989	0.18198	N	0.735	0.18861	N	-0.6	0.71662	T	-0.39	0.15379	N	0.049	0.02088	-0.9761	0.35882	T	0.176	0.51990	T	10	0.10623419	0.19677	T	0.022579	0.45482	T	0.059	0.16972	0.433	0.48336	0.0884992946249	0.08302	0.41588603951190717	0.41504	0.191856434136	0.21512	0.302244067192	0.10736	T	0.146522	0.48417	T	-0.241394	0.15170	T	-0.584522	0.14143	T	0.0925009733836551	0.11511	T	0.663034	0.27879	T	0.071047485	0.15700	0.09018572	0.21134	0.071047485	0.15700	0.09018572	0.21134	-2.906	0.09203	T	0.08682732990898344	0.05038	0.073	0.06069	B	.;.;.;.;.;.	.;.;.;.;.;.	0.339546	0.07133	3.711	0.87735514052747121	0.17443	0.03248	0.08272	N	AEFBI	0.053492	0.09642	N	-0.859181918228057	0.11824	0.5728104	-0.805989154224796	0.14351	0.7493687	0.093703580052252	0.16188	0.736574	0.97449	0	0.743671	0.97443	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.34	-2.31	0.06380	-0.060000	0.11669	-1.623000	0.05040	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.952000	0.50033	0.0:0.2996:0.1253:0.5751	6.751	0.22674	890	0.26919	.;.;.;.;.;.	.	.	.	.	.	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	1256.98	37	chr4	76175822	.	C	T	1256.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.380e-01;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=-2.030e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/1:55,55:110:99:1271,0,1304	20	0	1	0
chr4	76755002	76755002	G	A	exonic	SHROOM3	.	nonsynonymous SNV	SHROOM3:NM_020859:exon7:c.G4519A:p.E1507K,	.	.	386	1135	1	0	0	1	0.000440335	.	.	721071	not_provided|SHROOM3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.734	P	0.000	D	0.994	D	1.845	L	1.8	T	-1.024	T	0.115	T	0.352	2.959	15.86	5.49	2.865	5.847	17.744	0.231	0.0231409880972	0.0012	0.000199681	0.0017	9.636e-05	0.0002	0	0.0015	0.0028	0.0011	0.0003	0.0016623	257	154602	rs141646361	0.0018	0.0018	0.0019	0.0017	0.0021	0.0017	0.0017	0.0020	0.0020	0.0002	0.0003	0	2.521e-05	0.0027	0.0007	0.0021	0.0017	0.0002	0.0014	0.0014	0.0014	0.0013	0.0023	0.0012	0.0012	0.0020	0.0019	0.0004	0	0.0004	0	0	0.0022	0.0034	0.0023	0	0.0008	0.002	0.72154	D	0.054	0.47097	T	0.999	0.77913	D	0.734	0.55432	P	0.000206	0.47681	D	0.142715	0.993924	0.42100	D	1.935	0.51832	L	1.8	0.25344	T	-1.93	0.44852	N	0.271	0.30687	-1.0244	0.22279	T	0.115	0.40853	T	10	0.012893945	0.00275	T	0.023141	0.46083	T	0.231	0.53208	.	.	0.2338531098	0.23012	0.38068514091334954	0.37983	0.978205654084	0.73632	0.373410224915	0.21320	T	0.142335	0.47786	T	-0.418471	0.01749	T	-0.371546	0.36708	T	0.057432938440988	0.06758	T	0.839916	0.51465	T	0.26734295	0.49806	0.26779518	0.52641	0.26734295	0.49805	0.26779518	0.52640	-4.07	0.24846	T	.	.	0.264	0.53308	B	.;.	.;.	3.315145	0.45565	22.2	0.99706015052941466	0.81005	0.95491	0.64932	D	AEFBCI	0.672876	0.63912	D	0.422916619046015	0.62685	4.488469	0.342149706222128	0.58037	3.971978	0.999999999537614	0.74766	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.669	0.65921	0	.	.	5.49	5.49	0.81022	5.928000	0.69808	9.925000	0.82535	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.003000	0.05239	0.0:0.0:1.0:0.0	17.744	0.88325	735	0.53711	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3602.98	42	chr4	76755002	.	G	A	3602.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.90;DP=1053;ExcessHet=0.0000;FS=8.961;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=-5.080e-01;SOR=1.188	GT:AD:DP:GQ:PL	0/1:124,131:255:99:3617,0,2976	20	0	1	0
chr4	87615398	87615398	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1101	241	102	25	53	205	0.239748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	8813.52	57	chr4	87615398	.	T	C,*	8813.52	.	AC=13,3;AF=0.310,0.071;AN=42;BaseQRankSum=-1.140e-01;DP=1014;ExcessHet=1.5101;FS=0.523;InbreedingCoeff=-0.0096;MLEAC=13,3;MLEAF=0.310,0.071;MQ=59.94;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-8.740e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/2:20,0,12:32:99:431,491,1323,0,832,796	8	3	7	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	6438.4	35	chr4	87615730	.	ATAG	A,*	6438.4	.	AC=12,23;AF=0.286,0.548;AN=42;BaseQRankSum=2.60;DP=1174;ExcessHet=2.5830;FS=1.919;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=57.85;MQRankSum=-3.073e+00;QD=6.83;ReadPosRankSum=1.06;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:27,0,12:39:99:.:.:410,492,1584,0,1092,1054	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	0/2:27,0,12:39:99:.:.:410,492,1584,0,1092,1054	0	2	2	0
chr4	87615936	87615936	A	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1110	191	63	131	27	352	0.459689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	4716.91	13	chr4	87615936	.	A	G,*	4716.91	.	AC=11,7;AF=0.458,0.292;AN=24;BaseQRankSum=1.09;DP=703;ExcessHet=0.4078;FS=6.971;InbreedingCoeff=0.0517;MLEAC=16,10;MLEAF=0.667,0.417;MQ=57.27;MQRankSum=-3.640e+00;QD=9.93;ReadPosRankSum=0.431;SOR=1.090	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:28,0,26:54:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:723,808,1983,0,1176,1111:87615920	0	3	4	9
chr4	87615956	87615956	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	3111.82	11	chr4	87615956	.	T	C,*	3111.82	.	AC=11,6;AF=0.458,0.250;AN=24;BaseQRankSum=1.06;DP=620;ExcessHet=2.6845;FS=12.079;InbreedingCoeff=-0.0149;MLEAC=17,9;MLEAF=0.708,0.375;MQ=57.02;MQRankSum=-4.168e+00;QD=7.06;ReadPosRankSum=-1.842e+00;SOR=1.055	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:28,0,26:54:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:723,808,1983,0,1176,1111:87615920	0	3	5	9
chr4	87615962	87615962	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1185	208	24	81	24	210	0.30897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6923	3076.15	8	chr4	87615962	.	C	T,*	3076.15	.	AC=12,6;AF=0.462,0.231;AN=26;BaseQRankSum=0.443;DP=591;ExcessHet=0.7589;FS=9.385;InbreedingCoeff=0.0947;MLEAC=17,8;MLEAF=0.654,0.308;MQ=56.96;MQRankSum=-4.002e+00;QD=7.24;ReadPosRankSum=-1.720e+00;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:28,0,26:54:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:723,808,1983,0,1176,1111:87615920	1	4	4	8
chr4	87615971	87615971	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1193	243	20	43	23	129	0.179054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	1753.25	7	chr4	87615971	.	C	T,*	1753.25	.	AC=11,6;AF=0.458,0.250;AN=24;BaseQRankSum=0.430;DP=572;ExcessHet=0.9330;FS=12.644;InbreedingCoeff=-0.0283;MLEAC=16,9;MLEAF=0.667,0.375;MQ=57.48;MQRankSum=-4.485e+00;QD=4.26;ReadPosRankSum=-1.839e+00;SOR=1.150	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:28,0,26:54:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:723,808,1983,0,1176,1111:87615920	0	3	5	9
chr4	87615999	87616080	GATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGATAGCAGTGACAGCAGCA	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1069	426	12	14	1	41	0.044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	2282.15	5	chr4	87615999	.	GATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGATAGCAGTGACAGCAGCA	G,*	2282.15	.	AC=4,2;AF=0.118,0.059;AN=34;BaseQRankSum=2.41;DP=492;ExcessHet=0.0022;FS=0.000;InbreedingCoeff=0.4539;MLEAC=5,3;MLEAF=0.147,0.088;MQ=59.19;MQRankSum=-2.624e+00;QD=15.42;ReadPosRankSum=0.297;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,17,0:58:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:558,0,1619,681,1671,2352:87615920	13	1	2	4
chr4	87616001	87616001	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1074	417	12	15	4	46	0.0479452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	71.45	5	chr4	87616001	.	T	A,*	71.45	.	AC=2,6;AF=0.050,0.150;AN=40;DP=491;ExcessHet=0.0003;FS=0.000;InbreedingCoeff=0.5399;MLEAC=1,7;MLEAF=0.025,0.175;MQ=59.50;QD=0.48;SOR=0.692	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:41,0,17:58:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:558,681,2352,0,1671,1619:87615920	15	1	0	1
chr4	87616007	87616007	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1058	432	2	4	26	36	0.0114416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	105.75	7	chr4	87616007	.	T	C,*	105.75	.	AC=4,6;AF=0.095,0.143;AN=42;DP=498;ExcessHet=0.0001;FS=0.000;InbreedingCoeff=0.6744;MLEAC=2,6;MLEAF=0.048,0.143;MQ=53.79;QD=0.70;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:41,0,17:58:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:558,681,2352,0,1671,1619:87615920	15	2	0	0
chr4	87616008	87616008	G	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1045	447	12	14	4	44	0.0428266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	71.22	7	chr4	87616008	.	G	A,*	71.22	.	AC=2,4;AF=0.050,0.100;AN=40;DP=501;ExcessHet=0.0011;FS=0.642;InbreedingCoeff=0.4327;MLEAC=1,4;MLEAF=0.025,0.100;MQ=59.50;QD=0.52;SOR=0.800	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:41,0,17:58:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:558,681,2352,0,1671,1619:87615920	16	1	0	1
chr4	87616019	87616028	CAGCAGCAAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	693.18	7	chr4	87616019	.	CAGCAGCAAT	C,*	693.18	.	AC=2,4;AF=0.050,0.100;AN=40;DP=533;ExcessHet=0.0013;FS=0.000;InbreedingCoeff=0.4839;MLEAC=2,4;MLEAF=0.050,0.100;MQ=50.57;QD=4.59;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:41,0,17:58:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:558,681,2352,0,1671,1619:87615920	16	1	0	1
chr4	87616046	87616046	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1014	481	12	14	1	41	0.0399202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	641.05	17	chr4	87616046	.	C	A,*	641.05	.	AC=2,4;AF=0.059,0.118;AN=34;BaseQRankSum=-1.937e+00;DP=586;ExcessHet=0.0015;FS=0.000;InbreedingCoeff=0.3914;MLEAC=2,5;MLEAF=0.059,0.147;MQ=50.53;MQRankSum=1.39;QD=4.19;ReadPosRankSum=0.892;SOR=0.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:41,0,17:58:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:558,681,2352,0,1671,1619:87615920	13	1	0	4
chr4	87616061	87616061	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	693.45	18	chr4	87616061	.	T	C,*	693.45	.	AC=2,4;AF=0.200,0.400;AN=10;BaseQRankSum=-1.239e+00;DP=595;ExcessHet=0.0096;FS=0.595;InbreedingCoeff=0.1523;MLEAC=5,9;MLEAF=0.500,0.900;MQ=54.88;MQRankSum=2.78;QD=4.50;ReadPosRankSum=2.08;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:41,0,17:58:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:558,681,2352,0,1671,1619:87615920	1	1	0	16
chr4	87616064	87616109	TAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAA	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	679.13	18	chr4	87616064	.	TAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAA	T,*	679.13	.	AC=2,4;AF=0.071,0.143;AN=28;BaseQRankSum=-1.920e-01;DP=586;ExcessHet=0.0018;FS=0.595;InbreedingCoeff=0.3428;MLEAC=3,5;MLEAF=0.107,0.179;MQ=54.88;MQRankSum=2.78;QD=4.41;ReadPosRankSum=2.13;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:41,0,17:58:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:558,681,2352,0,1671,1619:87615920	10	1	0	7
chr4	87616233	87616241	GACAGCAGC	-	exonic	DSPP	.	nonframeshift deletion	DSPP:NM_014208:exon5:c.3571_3579del:p.S1229_S1231del,	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	633	805	61	19	4	103	0.0579286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0138	.	0.0013	0.0102	0	0	0	0.0002	0	0	0.0001552	24	154602	rs779559161	0.0006	0.0005	0.0006	0.0005	0.0126	0.0005	0.0005	0.0116	0.0111	0.0126	0.0007	0.0008	0	0.0002	0.0037	0.0002	0.0016	4.211e-05	0.0035	0.0035	0.0036	0.0034	0.0109	0.0032	0.0031	0.0099	0.0096	0.0109	0	0.0011	0.0004	0	0.0004	0.0058	0.0003	0.0037	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	5326.02	10	chr4	87616232	.	TGACAGCAGC	CGACAGCAGC,T	5326.02	.	AC=7,1;AF=0.219,0.031;AN=32;BaseQRankSum=1.16;DP=1033;ExcessHet=0.0004;FS=3.054;InbreedingCoeff=0.5011;MLEAC=7,1;MLEAF=0.219,0.031;MQ=58.86;MQRankSum=0.680;QD=29.26;ReadPosRankSum=0.832;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:27,0,18:45:99:1|0:87616226_T_C:629,710,1825,0,1115,1062:87616226	11	3	1	5
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.973	D	0.964	D	0.274	N	0.986	N	1.745	L	3.67	T	-1.090	T	0.040	T	0.61	3.658	18.60	2.36	0.190	4.136	8.164	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.45	6049.22	166	chr4	99318097	.	C	G	6049.22	.	AC=18;AF=0.450;AN=40;BaseQRankSum=-2.037e+00;DP=3479;ExcessHet=30.0624;FS=302.606;InbreedingCoeff=-0.7873;MLEAC=19;MLEAF=0.475;MQ=59.97;MQRankSum=0.00;QD=2.22;ReadPosRankSum=-1.750e-01;SOR=13.960	GT:AD:DP:GQ:PL	0/1:92,78:170:99:607,0,1268	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	0/1:67,45:112:99:.:.:325,0,1007	4	0	16	1
chr4	108165124	108165124	C	T	exonic	LEF1	.	nonsynonymous SNV	LEF1:NM_001130713:exon2:c.G253A:p.D85N	Sebaceous tumors, somatic (3)	.	432	1045	42	3	0	48	0.0224509	.	.	698331	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.33	T	0.91	P	0.285	B	0.000	D	0.996	D	1.355	L	-5.51	D	0.801	D	0.883	D	0.095	4.992	29.3	5.8	2.758	5.325	20.069	0.486	.	0.0052	0.00579073	0.0084	0.0018	0.0110	0.0021	0.0103	0.0077	0.0066	0.0161	0.00815	1260	154602	rs61752607	0.0086	0.0086	0.0084	0.0087	0.0167	0.0085	0.0084	0.0160	0.0157	0.0018	0.0098	0.0014	0.0070	0.0095	0.0099	0.0083	0.0085	0.0167	0.0062	0.0063	0.0065	0.0059	0.0123	0.0059	0.0058	0.0098	0.0089	0.0018	0.0121	0.0088	0.0006	0.0027	0.0087	0.0068	0.0079	0.0104	0.0123	0.301	0.78490	T	0.258	0.64786	T	0.165	0.49442	B	0.028	0.37187	B	0.000000	0.84330	D	0.049443	0.994903	0.43008	D	1.385	0.34509	L	-5.56	0.99392	D	-2.18	0.55662	N	0.536	0.61002	0.801	0.94421	D	0.883	0.96129	D	10	0.010001779	0.00224	T	.	.	.	0.486	0.77464	.	.	0.802756854265	0.80091	0.26479490399013794	0.26392	0.279026521573	0.30382	0.602982640266	0.53325	T	0.495556	0.81823	T	-0.262121	0.12654	T	-0.136322	0.60436	T	0.0226908288392035	0.00987	T	0.981302	0.95706	D	0.21579985	0.44022	0.3188588	0.57851	0.21579985	0.44022	0.3188588	0.57850	-4.164	0.31356	T	.	.	0.104	0.24294	B	.;.;.;.;.;.	.;.;.;.;.;.	4.467721	0.69589	25.4	0.99902625920476185	0.97426	0.97734	0.76747	D	AEFDBI	0.791559	0.72011	D	0.268939013737371	0.54580	3.623	0.409850153705389	0.62176	4.428918	0.999999999997982	0.74766	0.625279	0.40028	0	0.60822	0.50512	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	5.8	5.8	0.92081	5.399000	0.66059	7.658000	0.64072	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	20.069	0.97712	943	0.12886	CTNNB1 binding, N-teminal;.;.;.;CTNNB1 binding, N-teminal;CTNNB1 binding, N-teminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2140.11	33	chr4	108165124	.	C	T	2140.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.01;DP=872;ExcessHet=0.1072;FS=4.724;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=-1.099e+00;SOR=1.002	GT:AD:DP:GQ:PL	0/1:66,31:97:99:660,0,1613	19	0	2	0
chr4	112587428	112587428	T	C	exonic	ZGRF1	.	nonsynonymous SNV	ZGRF1:NM_001350397:exon11:c.A3455G:p.Y1152C	.	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.004	B	0.002	B	0.276	N	1.000	N	0.55	N	-1.58	D	-0.844	T	0.326	T	0.149	1.217	9.939	0.458	-0.120	-0.508	5.205	0.220	0.0275272883703	0.0008	0.000599042	0.0005	0.0009	0	0	0	0.0005	0	0.0010	0.0004463	69	154602	rs113454162	0.0004	0.0004	0.0004	0.0005	0.0132	0.0004	0.0004	0.0108	0.0099	0.0017	0.0003	0.0002	0	0	0.0132	0.0003	0.0008	0.0014	0.0005	0.0005	0.0005	0.0004	0.0014	0.0004	0.0003	0.0007	0.0005	0.0007	0	0.0003	0.0003	0	0	0.0102	0.0003	0.0014	0.0014	0.202	0.20230	T	0.184	0.29056	T	.	.	.	.	.	.	0.276403	0.03804	N	1.579890	1	0.08975	N	1.04	0.26193	L	-1.58	0.81987	D	-1.8	0.42384	N	0.158	0.16447	-0.8436	0.52406	T	0.326	0.69444	T	10	0.0081373155	0.00185	T	0.027527	0.50329	D	0.220	0.51569	.	.	0.235664433957	0.23186	0.04063770300467171	0.04008	0.0852435337803	0.09637	.	.	.	0.021849	0.16945	T	-0.409487	0.02003	T	-0.396354	0.33810	T	0.00230126592471505	0.00024	T	0.525248	0.17252	T	0.06310179	0.13250	0.08280405	0.18928	0.06310179	0.13249	0.08280405	0.18928	-3.079	0.11056	T	.	.	0.064	0.02173	B	.;.	.;.	0.932100	0.13072	9.577	0.938225337158623	0.23804	0.01307	0.04533	N	AEFDBI	0.051349	0.09062	N	-0.89567901842934	0.10945	0.5255962	-0.853759088420445	0.13198	0.68332	0.0379007458933801	0.14320	0.706298	0.61202	0	0.601575	0.49859	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.59	0.458	0.15882	-0.498000	0.06502	-1.510000	0.05277	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.1517:0.4382:0.0:0.4101	5.205	0.14610	866	0.32446	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1253.98	34	chr4	112587428	.	T	C	1253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.100e-02;DP=825;ExcessHet=0.0000;FS=2.432;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=0.562;SOR=0.950	GT:AD:DP:GQ:PL	0/1:65,51:116:99:1268,0,1744	20	0	1	0
chr4	128077953	128077953	C	T	exonic	LARP1B	.	nonsynonymous SNV	LARP1B:NM_001278604:exon4:c.C208T:p.R70C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.992	D	0.002	N	1.000	D	1.735	L	1.78	T	-0.901	T	0.154	T	0.513	2.520	14.38	-3.15	-0.485	0.822	1.821	0.104	0.0186906797683	.	.	1.66e-05	9.656e-05	0	0	0	1.51e-05	0	0	1.29e-05	2	154602	rs760387513	1.974e-05	2.121e-05	2.241e-05	1.704e-05	3.18e-05	1.369e-05	1.179e-05	1.399e-05	1.169e-05	3.18e-05	2.8e-05	0	0	0	0	2.102e-05	5.129e-05	0	4.602e-05	4.597e-05	7.711e-05	1.346e-05	0.0002	2.11e-05	1.527e-05	5.291e-05	2.837e-05	2.414e-05	0	0.0002	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.002	0.83351	D	1.0	0.90584	D	0.912	0.80445	D	0.001709	0.38216	N	0.215683	0.964655	0.50061	D	2.38	0.68558	M	1.78	0.49642	T	-4.37	0.79998	D	0.484	0.53796	-0.9014	0.47846	T	0.154	0.48498	T	10	0.24465543	0.41700	T	0.018691	0.40835	T	0.185	0.45933	.	.	0.401185642668	0.39728	0.2590669661444351	0.25820	0.742370381414	0.63329	0.683520197868	0.64775	T	0.055063	0.36627	T	-0.157977	0.27072	T	-0.280683	0.46735	T	0.973253726959229	0.70022	D	0.963904	0.87464	D	0.2587261	0.48922	0.1490309	0.35204	0.2587261	0.48922	0.1490309	0.35203	-11.468	0.88406	D	.	.	0.235	0.57884	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.548127	0.92026	32	0.99765642088297124	0.85417	0.39605	0.26250	N	AEFBI	0.334718	0.43339	N	-0.445704214074863	0.23886	1.285873	-0.573047012529577	0.20196	1.087057	0.00556065081244477	0.10975	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	3.88	-3.15	0.04912	1.140000	0.31128	-0.062000	0.12412	0.539000	0.25131	0.994000	0.38300	0.000000	0.08366	0.264000	0.23619	0.4904:0.2198:0.1134:0.1764	1.821	0.02922	860	0.33753	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	888.98	35	chr4	128077953	.	C	T	888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.620e+00;DP=776;ExcessHet=0.0000;FS=0.847;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=-1.153e+00;SOR=0.880	GT:AD:DP:GQ:PL	0/1:43,40:83:99:903,0,1058	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	1/1:0,98,0:98:99:4393,296,0,4393,296,4393	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	1/1:0,98,0:98:99:4393,296,0,4393,296,4393	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	0/2:73,0,35,0,0:111:99:.:.:1246,1433,4390,0,2956,2839,1433,4390,2956,4390,1433,4390,2956,4390,4390	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	0/2:73,0,35,0,0:111:99:.:.:1246,1433,4390,0,2956,2839,1433,4390,2956,4390,1433,4390,2956,4390,4390	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	0/2:73,0,35,0,0:111:99:.:.:1246,1433,4390,0,2956,2839,1433,4390,2956,4390,1433,4390,2956,4390,4390	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	0/2:73,0,35,0,0:111:99:.:.:1246,1433,4390,0,2956,2839,1433,4390,2956,4390,1433,4390,2956,4390,4390	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	0/1:81,40:121:99:.:.:399,0,2304	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	0/1:81,25:109:99:.:.:373,0,2308	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	1/1:0,173,0:173:99:.:.:5893,520,0,5893,520,5893	0	20	0	0
chr4	146639314	146639314	-	GGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGC:p.G68_R69insG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772231658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/1:0,68,0,0,0:68:99:2724,202,0,2725,203,2725,2725,203,2725,2725,2725,203,2725,2725,2725	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGCGGC:p.G68_R69insGGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/1:0,68,0,0,0:68:99:2724,202,0,2725,203,2725,2725,203,2725,2725,2725,203,2725,2725,2725	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGC:p.G68_R69insGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/1:0,68,0,0,0:68:99:2724,202,0,2725,203,2725,2725,203,2725,2725,2725,203,2725,2725,2725	0	10	4	0
chr4	165497573	165497573	A	G	exonic	CPE	.	nonsynonymous SNV	CPE:NM_001873:exon9:c.A1394G:p.E465G,	.	.	432	1088	2	0	0	2	0.000918274	.	.	3192556	CPE-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.799	P	0.214	B	0.000	D	1.000	D	0.895	L	2.54	T	-1.120	T	0.029	T	0.475	3.711	18.85	6.08	2.330	8.232	16.643	0.140	0.0107086443392	0.0003	0.000599042	0.0007	0	0	0	0	0.0008	0.0011	0.0020	0.0006339	98	154602	rs140816537	0.0004	0.0004	0.0003	0.0005	0.0018	0.0004	0.0004	0.0015	0.0014	0	0.0001	0.0017	0	0.0001	0.0004	0.0003	0.0006	0.0018	0.0003	0.0003	0.0002	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	2.405e-05	0	6.536e-05	0.0012	0	0.0002	0	0.0004	0	0.0017	0.002	0.72154	D	0.013	0.63109	D	0.799	0.44910	P	0.214	0.37471	B	0.000068	0.52346	D	0.166096	1	0.81001	D	1.32	0.33002	L	2.54	0.13916	T	-1.25	0.31576	N	0.242	0.27316	-1.1198	0.02344	T	0.029	0.12409	T	10	0.018993288	0.00419	T	0.010709	0.27557	T	0.140	0.37593	.	.	0.165150595986	0.16160	0.8576098171831829	0.85723	0.666500385418	0.59201	0.721552371979	0.70273	T	0.288121	0.66092	T	-0.385288	0.02884	T	-0.34523	0.39752	T	0.06687017300602	0.08205	T	0.883612	0.60617	D	0.20898059	0.43151	0.26297233	0.52096	0.20898059	0.43150	0.26297233	0.52095	-4.24	0.27327	T	.	.	0.144	0.31683	B	.	.	4.236662	0.64195	24.7	0.99654900755156828	0.77568	0.98216	0.80621	D	AEFBI	0.944763	0.95224	D	0.421605563874999	0.62611	4.47992	0.555866312360574	0.71805	5.711389	0.999999482510968	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	6.08	6.08	0.98982	8.514000	0.90373	11.164000	0.87745	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.643	0.84991	982	0.03397	Peptidase M14, carboxypeptidase 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	534.98	33	chr4	165497573	.	A	G	534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.049e+00;DP=735;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=-1.659e+00;SOR=0.776	GT:AD:DP:GQ:PL	0/1:26,25:51:99:549,0,639	20	0	1	0
chr4	168685497	168685497	A	T	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001166109:exon5:c.A127T:p.T43S	.	.	423	1068	30	1	0	32	0.0147601	.	.	133552	not_provided|not_specified|Pancreatic_cancer,_susceptibility_to,_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011739,MedGen:C1847351,OMIM:606856,Orphanet:1333	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.784	P	0.006	U	1.000	N	2.24	M	0.07	T	0.256	D	0.705	D	0.507	3.524	18.00	4.59	1.025	4.535	11.751	0.406	.	0.0041	0.000998403	0.0045	0.0005	0.0014	0	0.0003	0.0052	0.0055	0.0104	0.0043078	666	154602	rs140454899	0.0045	0.0046	0.0042	0.0048	0.0151	0.0044	0.0044	0.0125	0.0116	0.0006	0.0014	0.0171	0	0.0002	0.0151	0.0042	0.0046	0.0117	0.0033	0.0033	0.0033	0.0033	0.0122	0.0031	0.0030	0.0097	0.0088	0.0006	0	0.0012	0.0170	0	0.0003	0.0136	0.0048	0.0033	0.0122	0.045	0.56456	D	0.214	0.51421	T	.	.	.	.	.	.	0.005513	0.32736	U	0.000000	0.99029	0.41128	D	2.52	0.73523	M	-0.2	0.90679	T	-2.06	0.63438	N	0.483	0.52563	0.256	0.86843	D	0.705	0.89845	D	10	0.008006901	0.00182	T	.	.	.	0.406	0.71869	0.395	0.42099	0.730755731289	0.72836	0.32164990047811104	0.32077	0.224784248059	0.25013	0.341352850199	0.16640	T	0.037637	0.43041	T	-0.19593	0.21392	T	-0.0438291	0.67442	D	0.0487915056048183	0.05286	T	0.638236	0.40827	T	.	.	.	.	.	.	.	.	-6.342	0.53380	T	.	.	0.132	0.35972	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.119230	0.42106	21.5	0.99499971366976614	0.67973	0.98482	0.83244	D	AEFGBCI	0.620054	0.60526	D	0.378125725395134	0.60238	4.210615	0.368675571032923	0.59639	4.143637	0.999999989579635	0.74766	0.638212	0.43195	0	0.48864	0.07623	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.77	4.59	0.56297	4.575000	0.60619	7.045000	0.57350	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.677000	0.33454	0.9313:0.0:0.0687:0.0	11.751	0.51117	968	0.07033	.;.;.;.;.;.;.	.	.	.	.	.	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	2608.98	38	chr4	168685497	.	A	T	2608.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.150e-01;DP=897;ExcessHet=0.0000;FS=3.234;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=0.260;SOR=0.497	GT:AD:DP:GQ:PL	0/1:97,103:200:99:2623,0,2393	20	0	1	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	0/1:77,19:96:62:.:.:62,0,1760	17	0	4	0
chr4	174977728	174977728	T	C	exonic	ADAM29	.	nonsynonymous SNV	ADAM29:NM_001278127:exon2:c.T2203C:p.W735R	.	.	430	1082	8	0	2	10	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	1.000	N	0	N	4.68	T	-0.920	T	0.002	T	0.026	-2.714	0	-4.26	-2.393	0.161	0.256	0.027	.	0.0038	0.00319489	0.0001	0	8.706e-05	0	0.0003	0.0002	0	0.0002	0.0008344	129	154602	rs113482601	0.0005	0.0008	0.0005	0.0005	0.0034	0.0004	0.0004	0.0022	0.0019	0.0002	0.0002	0.0008	2.519e-05	0	0.0034	0.0005	0.0006	6.992e-05	7.251e-05	0.0002	5.159e-05	9.437e-05	0.0002	3.984e-05	3.136e-05	2.266e-05	1.128e-05	4.827e-05	0.0011	0.0001	0	0.0002	0	0.0034	5.903e-05	0	0	0.871	0.02600	T	0.621	0.07419	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.68	0.01715	T	0.34	0.03824	N	0.041	0.01421	-0.9202	0.45527	T	0.002	0.00615	T	8	0.0067432225	0.00153	T	.	.	.	0.027	0.05988	0.257	0.19845	0.0846915920261	0.08053	0.07628895574328291	0.07564	0.128444013849	0.14485	0.228466108441	0.01857	T	0.001444	0.00900	T	-0.779423	0.00011	T	-0.891273	0.00566	T	0.0317340626870637	0.02263	T	0.236776	0.03305	T	0.033284824	0.03517	0.040831354	0.04502	0.033284824	0.03517	0.040831354	0.04502	0.343	0.00248	T	.	.	0.074	0.06250	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.457493	0.02008	0.178	0.35562432872122884	0.02239	0.00093	0.00613	N	AEFBI	0.025223	0.01693	N	-1.72470029829658	0.00758	0.03272598	-1.82886559869969	0.00671	0.02985405	0.00180758349572003	0.08901	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.13	-4.26	0.03497	-0.592000	0.05841	-2.033000	0.04315	-1.573000	0.00930	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2496:0.1593:0.25:0.341	0.256	0.00196	960	0.08626	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	9615.98	38	chr4	174977728	.	T	C	9615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=1240;ExcessHet=0.0000;FS=2.244;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.44;MQRankSum=0.00;QD=18.74;ReadPosRankSum=-5.757e+00;SOR=0.410	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:247,266:513:99:0|1:174977728_T_C:9630,0,9003:174977728	20	0	1	0
chr4	174977778	174977778	T	A	exonic	ADAM29	.	nonsynonymous SNV	ADAM29:NM_001278127:exon2:c.T2253A:p.H751Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	1.000	N	0	N	4.62	T	-0.909	T	0.003	T	0.025	-2.108	0.006	-1.07	-1.677	-1.668	0.106	0.056	0.00187006743468	0.0016	.	1.66e-05	0	0	0	0	3.029e-05	0	0	0.0007684	20	26028	rs111234222	4.162e-06	0.0007	4.141e-06	4.183e-06	2.338e-05	1.5e-06	9.8e-07	3.88e-06	1.45e-06	0	0	0	0	0	0	2.738e-06	1.685e-05	2.338e-05	0.0005	0.0038	0.0006	0.0005	0.0008	0.0004	0.0004	0.0005	0.0004	0.0007	0.0015	0.0006	0	0.0008	0.0005	0	0.0003	0.0012	0.0006	0.79	0.03201	T	0.697	0.05786	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.62	0.01834	T	0.32	0.03955	N	0.057	0.03283	-0.9088	0.47001	T	0.003	0.00929	T	8	0.046648234	0.03881	T	0.00187	0.03272	T	0.056	0.15993	0.169	0.07419	0.115124310173	0.11017	0.04506352068669649	0.04450	0.0722180226617	0.08101	0.261078834534	0.05020	T	0.00192	0.01337	T	-0.782421	0.00011	T	-0.901286	0.00493	T	0.0517716041947937	0.05808	T	0.372463	0.08834	T	0.036840193	0.04610	0.03608086	0.02983	0.036840193	0.04609	0.03608086	0.02983	1.15	0.00114	T	.	.	0.077	0.07224	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.812023	0.01084	0.048	0.46229898147531445	0.03687	0.00082	0.00556	N	AEFBI	0.015759	0.00316	N	-1.71976647479546	0.00774	0.0334342	-1.81650627003924	0.00708	0.03152275	1.60248621860255E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.537	-1.07	0.09459	-2.934000	0.00752	-2.235000	0.04018	-0.545000	0.04923	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.2526:0.2542:0.2353:0.2579	0.106	0.00048	960	0.08626	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	595.04	38	chr4	174977778	.	T	A	595.04	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.89;DP=2599;ExcessHet=0.0000;FS=30.747;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.43;MQRankSum=0.526;QD=1.86;ReadPosRankSum=-2.988e+00;SOR=1.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:304,16:386:99:0|1:174977728_T_C:8626,0,11993:174977728	20	0	1	0
chr4	174977783	174977783	A	G	exonic	ADAM29	.	nonsynonymous SNV	ADAM29:NM_001278127:exon2:c.A2258G:p.Q753R	.	.	431	1068	11	0	12	23	0.00512343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	1.000	N	0	N	4.58	T	-0.916	T	0.002	T	0.038	-1.384	0.025	-1.07	-2.089	-3.817	3.277	0.000	.	0.0035	0.00499201	0.0001	0	8.684e-05	0	0.0005	0.0002	0	0	0.000925	143	154602	rs111721161	0.0011	0.0020	0.0011	0.0011	0.0011	0.0010	0.0010	0.0010	0.0010	0.0002	0.0009	0.0014	0	0.0038	0.0011	0.0011	0.0015	0.0004	0.0017	0.0026	0.0017	0.0017	0.0027	0.0015	0.0015	0.0020	0.0018	0.0004	0.0398	0.0027	0.0018	0.0002	0.0040	0	0.0017	0.0005	0.0002	1.0	0.00964	T	0.805	0.04005	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.58	0.01901	T	-0.51	0.15986	N	0.046	0.01911	-0.9159	0.46103	T	0.002	0.00615	T	8	0.0055652857	0.00123	T	.	.	.	0.000	0.00003	.	.	0.119812018005	0.11559	0.04266793907352832	0.04211	0.0916761220119	0.10349	0.223081022501	0.01495	T	0.002696	0.02085	T	-0.779153	0.00011	T	-0.889364	0.00580	T	0.00680666097123284	0.00077	T	0.19908	0.02235	T	0.020996671	0.00681	0.029644376	0.01326	0.020996671	0.00681	0.029644376	0.01326	-4.268	0.27726	T	.	.	0.077	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.389947	0.00367	0.007	0.29665368449142121	0.01584	0.00091	0.00603	N	AEFBI	0.027174	0.02172	N	-2.14064058520922	0.00104	0.004456205	-2.22129631152412	0.00100	0.004402878	5.00070531849664E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.537	-1.07	0.09459	-5.159000	0.00172	-10.974000	0.00647	-3.234000	0.00106	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4854:0.2753:0.2393:0.0	3.277	0.06494	960	0.08626	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	578.04	38	chr4	174977783	.	A	G	578.04	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.030e-01;DP=2617;ExcessHet=0.0000;FS=32.807;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.32;MQRankSum=0.521;QD=1.77;ReadPosRankSum=-2.657e+00;SOR=2.032	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:310,16:392:99:0|1:174977728_T_C:4192,0,12798:174977728	20	0	1	0
chr4	183666271	183666271	G	C	exonic	TRAPPC11	.	nonsynonymous SNV	TRAPPC11:NM_021942:exon3:c.G219C:p.E73D	Muscular dystrophy, limb-girdle, type 2S, Autosomal recessive	.	429	1073	20	0	0	20	0.00923361	.	.	251413	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_R18|not_specified|not_provided	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356,Orphanet:369840|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.36	T	0.884	P	0.361	B	0.000	D	1.000	D	0.785	N	.	.	-0.880	T	0.093	T	0.733	2.957	15.86	-8.23	-1.570	-0.198	20.646	0.438	.	0.0006	0.00519169	0.0043	0.0004	0.0004	0	0	0.0011	0.0078	0.0268	0.0037192	575	154602	rs138760818	0.0021	0.0021	0.0014	0.0028	0.0237	0.0020	0.0020	0.0228	0.0225	0.0002	0.0004	0.0094	7.562e-05	0	0.0059	0.0005	0.0027	0.0237	0.0012	0.0012	0.0009	0.0016	0.0213	0.0011	0.0010	0.0180	0.0167	9.623e-05	0	0.0005	0.0084	0.0002	0	0.0034	0.0006	0.0009	0.0213	0.332	0.13045	T	0.313	0.19782	T	0.816	0.48618	P	0.268	0.43233	B	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	0.72	0.18721	N	.	.	.	-1.65	0.39503	N	0.83	0.82559	-0.8796	0.49793	T	0.093	0.35309	T	9	0.008832902	0.00200	T	.	.	.	0.438	0.74235	0.507	0.60232	0.297718772494	0.29385	0.6762822272158442	0.67567	0.242449313092	0.26752	0.895344734192	0.95908	D	0.056148	0.30204	T	-0.266217	0.12181	T	-0.136255	0.60441	T	0.0358278396197127	0.02951	T	0.936706	0.76258	D	0.13100906	0.30552	0.16336662	0.37900	0.15270379	0.34650	0.21760593	0.46431	-4.695	0.33367	T	0.271994395201674	0.36576	0.534	0.66116	A	.;.	.;.	0.259165	0.06380	2.843	0.97681234374604287	0.35317	0.66952	0.33258	D	AEFBI	0.191362	0.31856	N	-0.860169371462993	0.11800	0.5714975	-0.946028042817449	0.11016	0.5585789	0.999723583915953	0.42220	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.61	-8.23	0.00907	-0.179000	0.09761	-1.286000	0.05813	-0.281000	0.06419	0.457000	0.26620	0.000000	0.08366	0.992000	0.67800	0.2921:0.0:0.7079:0.0	20.646	0.99595	798	0.45050	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	1660.11	39	chr4	183666271	.	G	C	1660.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.959;DP=798;ExcessHet=0.1072;FS=2.039;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=1.26;SOR=0.545	GT:AD:DP:GQ:PL	0/1:43,33:76:99:831,0,1058	19	0	2	0
chr4	185312576	185312576	G	T	exonic	SNX25	.	nonsynonymous SNV	SNX25:NM_001378038:exon8:c.G1377T:p.M459I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	79.6	19	chr4	185312576	.	G	T	79.6	.	AC=2;AF=0.083;AN=24;DP=19;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.1879;MLEAC=2;MLEAF=0.083;MQ=60.00;QD=28.28;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:185312576_G_T:90,6,0:185312576	11	1	0	9
chr4	185399736	185399736	G	A	exonic	ANKRD37	.	nonsynonymous SNV	ANKRD37:NM_181726:exon4:c.G439A:p.G147R,	.	.	433	1049	40	0	0	40	0.0187091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.301	B	0.03	B	0.048	N	0.999	N	0.255	N	-0.83	T	-0.993	T	0.160	T	0.219	0.011	4.073	3.71	1.435	0.637	10.193	0.113	.	0.0005	0.00459265	0.0027	0.0004	0.0009	0.0002	0	0.0009	0.0067	0.0150	0.0023738	367	154602	rs144479244	0.0016	0.0016	0.0011	0.0021	0.0163	0.0016	0.0015	0.0156	0.0153	0.0003	0.0011	0.0024	5.039e-05	1.873e-05	0.0057	0.0006	0.0019	0.0163	0.0013	0.0013	0.0010	0.0015	0.0232	0.0011	0.0011	0.0197	0.0184	9.627e-05	0	0.0005	0.0035	0.0004	0	0.0034	0.0007	0.0019	0.0232	0.881	0.02538	T	0.754	0.04737	T	0.301	0.32572	B	0.03	0.21741	B	0.047665	0.23323	N	0.434279	.	.	.	1.75	0.45442	L	-0.83	0.74159	T	0.17	0.05125	N	0.187	0.20395	-0.9931	0.31801	T	0.160	0.49380	T	10	0.0044575334	0.00091	T	.	.	.	0.113	0.31778	0.484	0.56621	0.760790476081	0.75861	0.592442007350813	0.59174	0.151662793544	0.17117	0.287187337875	0.08514	T	0.002771	0.02166	T	-0.446435	0.01185	T	-0.401075	0.33258	T	0.00725189279590941	0.00083	T	0.664234	0.27311	T	0.024822954	0.01353	0.0420305	0.04911	0.024822954	0.01353	0.0420305	0.04911	-4.343	0.28775	T	.	.	0.079	0.07507	B	.	.	0.633257	0.10018	6.769	0.75396565598438292	0.11059	0.12125	0.17075	N	AEFDGBCI	0.077032	0.15511	N	-0.598303254044455	0.18997	0.9907638	-0.496319994490441	0.22255	1.207891	0.999997905329658	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.273489	0.05413	2	.	.	5.78	3.71	0.41733	0.788000	0.26533	1.398000	0.26172	0.596000	0.33519	0.002000	0.15269	0.005000	0.19230	0.100000	0.18284	0.1907:0.0:0.8093:0.0	10.193	0.42213	937	0.14592	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1338.98	36	chr4	185399736	.	G	A	1338.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=1055;ExcessHet=0.0000;FS=1.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-3.860e-01;SOR=0.883	GT:AD:DP:GQ:PL	0/1:57,53:110:99:1353,0,1433	20	0	1	0
chr4	186618941	186618941	A	G	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon10:c.T7645C:p.F2549L,	.	.	.	.	.	.	.	.	.	.	.	2098706	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.65	T	0.107	B	0.078	B	0.000	N	1.000	D	1.3	L	4.7	T	-0.865	T	0.006	T	0.219	1.167	9.749	4.02	1.108	7.290	10.987	0.135	0.0198749686404	8.5e-05	0.000399361	0.0002	0.0001	0.0006	0	0.0002	0.0002	0.0011	0	0.0002135	33	154602	rs183730071	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0005	0.0004	0.0001	0.0007	0	0	3.748e-05	0.0010	0.0003	0.0007	1.159e-05	0.0002	0.0002	0.0003	0.0002	0.0003	0.0002	0.0001	0.0002	0.0001	0.0002	0	0.0003	0	0.0002	0	0	0.0002	0.0009	0	0.565	0.06282	T	0.22	0.25907	T	0.107	0.26081	B	0.078	0.28627	B	0.000004	0.62929	N	0.115606	1	0.81001	D	0.21	0.09513	N	4.7	0.01673	T	-0.56	0.17003	N	0.254	0.28732	-0.8646	0.50930	T	0.006	0.02093	T	10	0.06730673	0.09359	T	0.019875	0.42352	T	0.135	0.36572	0.465	0.53566	0.221019684889	0.21715	0.5092797905965483	0.50849	0.12580541079	0.14181	0.618342876434	0.55494	T	0.095962	0.39728	T	-0.477598	0.00764	T	-0.558514	0.16515	T	0.0220766165133416	0.00917	T	0.643236	0.25495	T	0.068656236	0.14976	0.08548176	0.19741	0.068656236	0.14976	0.08548176	0.19741	-5.911	0.45528	T	.	.	0.814	0.77955	P	.;.	.;.	2.129326	0.27108	17.35	0.92679349111561515	0.22164	0.96353	0.68724	D	AEFBCI	0.898266	0.84136	D	-0.173520523395453	0.34241	1.951973	-0.0347326224371773	0.38157	2.244139	0.999999438474763	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.2	4.02	0.45968	5.320000	0.65621	2.684000	0.34038	0.756000	0.94297	1.000000	0.71638	0.965000	0.29475	0.912000	0.44740	0.9272:0.0:0.0728:0.0	10.987	0.46743	879	0.29470	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2444.98	125	chr4	186618941	.	A	G	2444.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.790e-01;DP=1786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=0.876;SOR=0.678	GT:AD:DP:GQ:PL	0/1:103,94:197:99:2459,0,2913	20	0	1	0
chr4	186620755	186620755	A	G	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon10:c.T5831C:p.L1944S,	.	.	.	.	.	.	.	.	.	.	.	2779164	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.49	T	1.0	D	1.0	D	0.000	D	1.000	D	0.015	N	0.72	T	-0.921	T	0.142	T	0.854	2.455	14.17	5.26	2.212	9.139	15.335	0.446	0.0217550202205	.	.	.	.	.	.	.	.	.	.	.	.	.	rs752610003	7.525e-06	7.524e-06	8.168e-06	6.876e-06	8.994e-06	4.04e-06	2.95e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.994e-06	1.656e-05	0	1.314e-05	1.313e-05	1.285e-05	1.346e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.293	0.14843	T	1.0	0.01155	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.135	0.08676	N	0.72	0.50976	T	-2.48	0.54059	N	0.831	0.82660	-0.9215	0.45348	T	0.142	0.46349	T	10	0.76633495	0.76733	D	0.021755	0.44572	T	0.446	0.74797	0.724	0.85850	0.495172024023	0.49151	0.5195307007724146	0.51876	0.590995487374	0.54545	0.699218571186	0.67031	T	0.302517	0.67492	T	0.182352	0.72259	D	0.0241601	0.71900	D	0.706141373382883	0.41012	D	0.964304	0.86758	D	0.31763086	0.54438	0.270825	0.52977	0.31763086	0.54438	0.270825	0.52976	-8.477	0.64277	D	.	.	0.889	0.82041	P	.;.	.;.	3.487465	0.48728	22.7	0.99438499693600735	0.64621	0.97291	0.73831	D	AEFBCI	0.894707	0.83397	D	0.410892030037746	0.62019	4.411359	0.461672737925845	0.65471	4.827871	0.999999999999328	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.668105	0.65232	0	.	.	5.26	5.26	0.73479	7.521000	0.80758	8.121000	0.76624	0.756000	0.94297	1.000000	0.71638	0.973000	0.29867	0.888000	0.42677	1.0:0.0:0.0:0.0	15.335	0.73955	896	0.25515	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3038.98	125	chr4	186620755	.	A	G	3038.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=1820;ExcessHet=0.0000;FS=1.043;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=-9.620e-01;SOR=0.610	GT:AD:DP:GQ:PL	0/1:106,117:223:99:3053,0,2700	20	0	1	0
chr4	186707265	186707265	C	T	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon2:c.G2563A:p.G855R,	.	.	434	1081	7	0	0	7	0.00322729	.	.	413677	not_provided|FAT1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	3.025	M	0.94	T	-0.326	T	0.258	T	0.961	3.127	16.45	4.85	2.518	4.779	18.143	0.584	0.0376923304128	0.0022	0.000798722	0.0022	0.0004	0.0029	0.0001	0.0003	0.0033	0.0022	0	0.0021216	328	154602	rs180820128	0.0024	0.0024	0.0024	0.0024	0.0073	0.0023	0.0023	0.0055	0.0049	0.0004	0.0034	0.0030	0	0.0002	0.0073	0.0028	0.0022	0.0001	0.0022	0.0022	0.0023	0.0020	0.0048	0.0020	0.0019	0.0039	0.0036	0.0004	0	0.0048	0.0035	0	0.0003	0	0.0032	0.0038	0.0004	0.034	0.44029	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	2.78	0.81115	M	0.94	0.43672	T	-5.56	0.86296	D	0.599	0.63798	-0.3257	0.74260	T	0.258	0.62900	T	10	0.030697048	0.01198	T	0.037692	0.57774	D	0.584	0.83305	0.796	0.91657	0.523185410202	0.51965	0.6732314886380841	0.67261	0.266950008478	0.29230	0.568442583084	0.48457	T	0.415076	0.76844	T	-0.0902377	0.38037	T	0.0958137	0.76631	D	0.0699919507460246	0.08650	T	0.904909	0.66542	D	0.6330527	0.74461	0.43370086	0.66914	0.5659745	0.70840	0.48331788	0.70087	-11.123	0.80328	D	.	.	0.518	0.65390	A	.;.	.;.	4.233787	0.64133	24.7	0.99878646372380731	0.95491	0.95969	0.66943	D	AEFBCI	0.771009	0.70577	D	0.522314213594677	0.68412	5.213571	0.356659250097138	0.58911	4.064649	0.999999999999998	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.668105	0.65232	0	.	.	4.85	4.85	0.62375	5.003000	0.63708	7.654000	0.63860	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.185000	0.21450	0.0:1.0:0.0:0.0	18.143	0.89578	951	0.11083	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3327.98	112	chr4	186707265	.	C	T	3327.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.969;DP=2955;ExcessHet=0.0000;FS=4.091;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.31;ReadPosRankSum=0.689;SOR=0.461	GT:AD:DP:GQ:PL	0/1:81,123:204:99:3342,0,1950	20	0	1	0
chr5	14751207	14751207	G	C	exonic	ANKH	.	nonsynonymous SNV	ANKH:NM_054027:exon5:c.C549G:p.H183Q,	Chondrocalcinosis 2, Autosomal dominant;Craniometaphyseal dysplasia, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.0	B	0.001	B	0.000	D	1.000	D	1.245	L	-3.39	D	-0.176	T	0.624	D	0.211	1.964	12.52	2.72	0.276	2.182	5.945	0.251	0.0589460882439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.27544	T	0.418	0.14200	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.044864	0.999929	0.81001	D	0.55	0.14455	N	-3.39	0.94210	D	-0.94	0.25118	N	0.612	0.62866	-0.1765	0.78268	T	0.624	0.86771	D	10	0.4264186	0.57204	T	0.058946	0.67493	D	0.251	0.56024	0.491	0.57732	0.860750592439	0.85940	0.46764186981673755	0.46683	1.07263255866	0.76850	0.749699652195	0.74402	T	0.620904	0.88116	D	0.0312862	0.55895	T	-0.192836	0.55324	T	0.428377896547318	0.30001	T	0.89551	0.63622	D	0.10753674	0.25428	0.115656085	0.27920	0.10753674	0.25428	0.115656085	0.27919	-3.688	0.19141	T	0.1557935486570135	0.18698	0.131	0.28086	B	.	.	2.614903	0.33970	19.49	0.94966174490112354	0.25888	0.95382	0.64502	D	AEFDBI	0.347542	0.44198	N	-0.247696541944797	0.31195	1.746794	-0.107228856194465	0.35099	2.026568	0.99987993412238	0.44625	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.51	2.72	0.31179	2.254000	0.42868	4.389000	0.43207	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2201:0.1371:0.6428:0.0	5.945	0.18453	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1622.98	34	chr5	14751207	.	G	C	1622.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=823;ExcessHet=0.0000;FS=2.291;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=0.622;SOR=0.850	GT:AD:DP:GQ:PL	0/1:62,62:124:99:1637,0,1575	20	0	1	0
chr5	16681966	16681966	T	C	exonic	MYO10	.	nonsynonymous SNV	MYO10:NM_012334:exon31:c.A4094G:p.N1365S,	.	.	437	1075	10	0	0	10	0.00462963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.999	D	0.98	D	.	.	1.000	D	1.79	L	0.12	T	-0.601	T	0.326	T	0.173	4.304	22.5	5.82	2.225	6.167	16.188	0.111	0.0203314300148	0.0005	0.00119808	0.0014	0.0002	0.0016	0.0001	0.0002	0.0013	0.0056	0.0032	0.0012419	192	154602	rs143433432	0.0013	0.0013	0.0011	0.0015	0.0139	0.0013	0.0012	0.0114	0.0105	0.0005	0.0017	0.0011	2.519e-05	3.749e-05	0.0139	0.0011	0.0016	0.0038	0.0011	0.0011	0.0009	0.0012	0.0044	0.0009	0.0009	0.0029	0.0025	0.0002	0	0.0010	0.0012	0	0	0.0102	0.0015	0.0043	0.0044	0.118	0.32296	T	0.149	0.44302	T	0.999	0.77913	D	0.91	0.64641	D	.	.	.	.	0.99996	0.53665	D	1.79	0.46772	L	0.12	0.61089	T	-1.41	0.36787	N	0.672	0.73285	-0.6006	0.64792	T	0.326	0.69461	T	9	0.014236093	0.00300	T	0.020331	0.42902	T	0.111	0.31313	.	.	0.787469884799	0.78549	0.46553543861419544	0.46472	0.630271690741	0.57025	0.80445587635	0.82643	D	0.028389	0.37928	T	-0.405973	0.02115	T	-0.358979	0.38171	T	0.0158370255733259	0.00371	T	0.978652	0.92496	D	0.1084692	0.25647	0.116809905	0.28199	0.1084692	0.25647	0.116809905	0.28198	-10.463	0.76634	D	.	.	0.100	0.17317	B	.;.;.;.	.;.;.;.	4.231042	0.64072	24.7	0.99889993147554623	0.96436	0.97775	0.77043	D	AEFDGBI	0.851346	0.76820	D	0.485487071961841	0.66241	4.924924	0.545534013226667	0.71085	5.601767	0.999999999469786	0.74766	0.67177	0.52595	0	0.588015	0.36545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.82	5.82	0.92740	6.145000	0.71533	6.143000	0.54081	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.188	0.81779	756	0.51065	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1639.98	35	chr5	16681966	.	T	C	1639.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.976;DP=874;ExcessHet=0.0000;FS=3.241;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=0.181;SOR=1.052	GT:AD:DP:GQ:PL	0/1:63,63:126:99:1654,0,1583	20	0	1	0
chr5	36976312	36976312	G	C	exonic	NIPBL	.	nonsynonymous SNV	NIPBL:NM_015384:exon9:c.G1405C:p.V469L	Cornelia de Lange syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.073	B	0.025	B	0.000	D	1.000	D	0.695	N	-3.35	D	0.043	D	0.661	D	0.555	3.882	19.73	5.58	2.641	9.439	19.567	0.343	0.0406808251233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	6.568e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.011	0.55530	D	0.283	0.36365	T	0.043	0.24078	B	0.011	0.20508	B	0.000063	0.52346	D	0.128294	0.999708	0.48408	D	1.61	0.41143	L	-3.35	0.94022	D	-0.52	0.16187	N	0.585	0.60579	0.043	0.83110	D	0.661	0.88235	D	10	0.32050586	0.49425	T	0.040681	0.59509	D	0.343	0.66488	0.25	0.18757	0.879801803537	0.87862	0.410959878834727	0.41011	0.237173385282	0.26261	0.753291904926	0.74932	T	0.18814	0.54196	T	0.196373	0.73552	D	0.0442995	0.73208	D	0.69907339231432	0.40675	D	0.947805	0.79866	D	0.13591537	0.31528	0.17231335	0.39477	0.13591537	0.31527	0.17231335	0.39476	-4.229	0.27169	T	.	.	0.624	0.70897	P	.;.	.;.	4.008901	0.59128	24.1	0.99731517772583023	0.82833	0.99456	0.96256	D	AEFBI	0.873692	0.79619	D	0.100524658377244	0.46485	2.888287	0.32136463555838	0.56798	3.843655	0.999999999999868	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	9.567000	0.97303	11.883000	0.98886	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.567	0.95391	130	0.94779	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	663.75	81	chr5	36976312	.	G	C	663.75	.	AC=8;AF=0.333;AN=24;BaseQRankSum=-3.011e+00;DP=2556;ExcessHet=3.5521;FS=235.068;InbreedingCoeff=-0.4165;MLEAC=11;MLEAF=0.458;MQ=60.00;MQRankSum=0.00;QD=0.62;ReadPosRankSum=0.981;SOR=11.906	GT:AD:DP:GQ:PL	0/1:127,35:187:32:32,0,2534	4	0	8	9
chr5	37183388	37183388	G	T	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_001384732:exon26:c.C4793A:p.T1598K	.	.	1	1495	26	0	0	26	0.00862069	.	.	501350	not_provided|Joubert_syndrome_17|CPLANE1-related_disorder	MedGen:C3661900|MONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615,Orphanet:475|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.99	D	0.004	N	1.000	D	0.695	N	-0.54	T	-0.170	T	0.403	T	0.625	5.551	35	5.44	2.551	8.359	19.265	0.372	0.0807419754689	0.0002	0.000998403	0.0016	0	0.0005	0	0	0.0011	0.0033	0.0068	0.0013583	210	154602	rs147588579	0.0009	0.0009	0.0008	0.0011	0.0142	0.0009	0.0009	0.0117	0.0108	0	0.0007	0.0078	5.046e-05	0	0.0142	0.0004	0.0014	0.0060	0.0007	0.0006	0.0006	0.0007	0.0056	0.0005	0.0005	0.0040	0.0034	4.816e-05	0	0.0005	0.0069	0	0	0.0034	0.0005	0.0024	0.0056	0.006	0.65419	D	0.0	0.92824	D	.	.	.	.	.	.	0.004142	0.34057	N	0.135348	0.999693	0.48338	D	.	.	.	-0.54	0.70950	T	-2.66	0.56945	D	0.604	0.62188	-0.1695	0.78440	T	0.403	0.75381	T	10	0.008908778	0.00202	T	0.080742	0.73527	D	0.372	0.69102	.	.	0.719862766231	0.71739	0.5803039146120949	0.57959	0.567737995331	0.53022	.	.	.	0.261604	0.63310	T	-0.221754	0.17756	T	-0.0888375	0.64248	T	0.0432307516442965	0.04280	T	0.70313	0.31322	T	0.37255535	0.58773	0.46635535	0.69036	0.3774249	0.59129	0.46336356	0.68847	-2.85	0.08653	T	0.7843215179378638	0.86376	0.260	0.54961	B	.;.;.	.;.;.	4.583986	0.72443	25.8	0.9920629401552864	0.55442	0.98763	0.86538	D	AEFDGBI	0.866011	0.78530	D	0.702834520102275	0.79819	7.158825	0.741159903415864	0.85495	8.597776	0.999999999955175	0.74766	0.562547	0.31514	0	0.588066	0.40923	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	8.872000	0.91982	11.891000	0.99093	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.265	0.93969	139	0.94486	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2740.98	34	chr5	37183388	.	G	T	2740.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=962;ExcessHet=0.0000;FS=1.082;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.50;ReadPosRankSum=8.000e-03;SOR=0.757	GT:AD:DP:GQ:PL	0/1:103,100:203:99:2755,0,2690	20	0	1	0
chr5	38482082	38482082	C	A	exonic	LIFR	.	nonsynonymous SNV	LIFR:NM_001127671:exon20:c.G2807T:p.R936L	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.029	B	0.018	B	0.266	N	1.000	N	0.69	N	0.49	T	-1.027	T	0.093	T	0.141	1.824	12.06	4.29	0.882	0.377	7.936	0.040	0.0153743323694	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781371324	2.761e-06	4.104e-06	2.742e-06	2.78e-06	0.0002	6.5e-07	4.4e-07	3.97e-06	1.48e-06	0	0	0	0	0	0.0002	0	1.673e-05	2.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.25154	T	0.06	0.45744	T	0.029	0.19866	B	0.018	0.18489	B	0.266356	0.15214	N	0.711514	1	0.08975	N	0	0.06538	N	0.49	0.55775	T	0.08	0.06026	N	0.069	0.08646	-1.0274	0.21299	T	0.093	0.35255	T	10	0.048627675	0.04339	T	0.015374	0.36062	T	0.040	0.10527	0.215	0.13498	0.497280371566	0.49363	0.3082765734901032	0.30740	0.10995767528	0.12399	0.210096478462	0.00815	T	0.242494	0.61125	T	-0.288225	0.09815	T	-0.544135	0.17893	T	0.476381212472916	0.31764	T	0.740126	0.35895	T	0.094943166	0.22334	0.07416786	0.16195	0.094943166	0.22334	0.07416786	0.16195	-2.161	0.03855	T	.	.	0.079	0.07697	B	.;.	.;.	1.654865	0.21113	15.05	0.99257719727275473	0.57088	0.12925	0.17561	N	AEFBI	0.141031	0.26309	N	-0.70105733007777	0.15991	0.8108829	-0.619427163182567	0.18994	1.017166	0.989360895067248	0.31802	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	6.06	4.29	0.50359	0.404000	0.20722	-0.071000	0.12298	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.599000	0.31363	0.1312:0.7375:0.0:0.1313	7.936	0.29091	465	0.78421	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1746.98	34	chr5	38482082	.	C	A	1746.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.20;ReadPosRankSum=1.36;SOR=0.666	GT:AD:DP:GQ:PL	0/1:85,71:156:99:1761,0,2035	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|2:16,0,19:35:99:0|1:61332326_GGGCGGC_G:690,738,1359,0,621,564:61332326	11	1	6	0
chr5	72196462	72196462	C	T	exonic	MAP1B	.	nonsynonymous SNV	MAP1B:NM_001324255:exon4:c.C2729T:p.P910L	.	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.001	B	0.0	B	0.425	N	0.998	N	0	N	4.13	T	-0.927	T	0.007	T	0.146	-1.014	0.240	3.78	1.504	1.622	13.676	0.064	0.0125555445565	0.0002	.	6.589e-05	9.612e-05	0.0004	0	0	2.997e-05	0	0	5.17e-05	8	154602	rs145156470	6.021e-05	6.156e-05	7.351e-05	4.676e-05	0.0003	4.962e-05	4.627e-05	0.0001	7.816e-05	2.987e-05	0.0002	0	2.519e-05	0	0.0003	6.295e-05	4.967e-05	2.319e-05	3.951e-05	3.942e-05	1.286e-05	6.745e-05	9.682e-05	1.718e-05	1.131e-05	3.256e-05	1.919e-05	9.682e-05	0	6.557e-05	0	0	0	0	1.471e-05	0	0	0.004	0.65419	D	0.403	0.14865	T	0.001	0.07471	B	0.0	0.01387	B	0.425348	0.12818	N	0.732217	0.997773	0.22513	N	1.245	0.31408	L	4.13	0.02865	T	-0.15	0.09297	N	0.152	0.15609	-0.9275	0.44502	T	0.007	0.02439	T	10	0.053039968	0.05431	T	0.012556	0.31241	T	0.064	0.18567	.	.	0.123314135267	0.11883	0.19667287400635444	0.19584	0.26911471461	0.29430	0.378071308136	0.21982	T	0.083212	0.37003	T	-0.457698	0.01016	T	-0.597668	0.13008	T	0.0573870536923622	0.06750	T	0.665133	0.27420	T	0.035099607	0.04068	0.050351355	0.07886	0.035099607	0.04068	0.050351355	0.07885	-4.025	0.24177	T	.	.	0.097	0.15832	B	.	.	1.938731	0.24623	16.47	0.35991211744591839	0.02290	0.74260	0.36325	D	AEFBI	0.182547	0.30988	N	-0.712244085531622	0.15677	0.7921748	-0.585505109559241	0.19870	1.068076	0.999966401204547	0.48965	0.732398	0.92422	0	0.627178	0.54094	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.86	3.78	0.42629	1.367000	0.33809	2.101000	0.30604	-0.171000	0.11205	0.639000	0.28076	0.965000	0.29475	0.023000	0.12082	0.0:0.8515:0.0:0.1485	13.676	0.61931	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	945.98	56	chr5	72196462	.	C	T	945.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=1028;ExcessHet=0.0000;FS=0.783;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.56;ReadPosRankSum=-1.325e+00;SOR=0.557	GT:AD:DP:GQ:PL	0/1:60,39:99:99:960,0,1566	20	0	1	0
chr5	75350276	75350276	G	A	exonic	HMGCR	.	nonsynonymous SNV	HMGCR:NM_000859:exon8:c.G682A:p.E228K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.807	P	0.131	B	0.000	D	1.000	D	0.35	N	0.88	T	-1.067	T	0.059	T	0.958	4.333	22.8	6.07	2.885	9.635	20.659	0.369	0.0127105202164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.301	0.16520	T	0.511	0.10785	T	0.662	0.40950	P	0.098	0.30479	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.14	0.04484	N	0.88	0.46412	T	-0.98	0.25986	N	0.93	0.93487	-1.0666	0.10177	T	0.059	0.24908	T	10	0.6349621	0.68729	D	0.012711	0.31519	T	0.369	0.68844	0.408	0.44230	0.866828520179	0.86553	0.6540730051561783	0.65343	1.02137000467	0.75134	0.826209306717	0.85982	D	0.387093	0.74809	T	0.214645	0.75270	D	0.0705464	0.74947	D	0.735455910282753	0.42494	D	0.968803	0.88706	D	0.28137243	0.51180	0.24423924	0.49886	0.28137243	0.51180	0.24423924	0.49884	-10.866	0.78917	D	.	.	0.354	0.56831	A	.;.;.	.;.;.	4.467810	0.69589	25.4	0.99857161267438432	0.93548	0.99728	0.99013	D	AEFBI	0.940799	0.94325	D	0.213631692132252	0.51861	3.364037	0.426638945498245	0.63231	4.552732	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.07	6.07	0.98675	9.799000	0.98235	11.720000	0.94800	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.659	0.99629	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	0.02381	2273.98	33	chr5	75350276	.	G	A	2273.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.302;DP=854;ExcessHet=0.0000;FS=11.841;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.36;ReadPosRankSum=3.68;SOR=0.253	GT:AD:DP:GQ:PL	0/1:64,84:148:99:2288,0,1656	20	0	1	0
chr5	90778546	90778546	C	G	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon63:c.C12786G:p.S4262R,	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.015	M	1.54	T	-0.724	T	0.184	T	0.924	3.089	16.32	-2.44	-0.153	-0.596	10.075	0.518	0.474123416816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.99998	0.54805	D	.	.	.	1.54	0.30133	T	-3.81	0.71882	D	0.806	0.80180	-0.7244	0.59244	T	0.184	0.53225	T	10	0.6327611	0.68611	D	0.474123	0.94730	D	0.518	0.79461	0.465	0.53566	0.415564226483	0.41173	0.8401427610092328	0.83974	0.325380680824	0.34690	0.591660737991	0.51728	T	0.31192	0.68378	T	0.18038	0.72077	D	0.0213268	0.71716	D	0.98555588722229	0.76514	D	0.861914	0.55630	D	0.92631596	0.93869	0.7218319	0.83574	0.92631596	0.93870	0.7218319	0.83574	-11.877	0.84246	D	.	.	0.945	0.86393	P	.;.;.	.;.;.	0.599994	0.09684	6.455	0.99594800037347764	0.73807	0.43671	0.27149	N	AEFBI	0.348373	0.44252	N	-0.313711924830796	0.28627	1.580528	-0.514027183797872	0.21771	1.179381	1.86315971267034E-4	0.05844	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.69	-2.44	0.06126	-0.672000	0.05345	-1.690000	0.04909	-2.509000	0.00261	0.097000	0.22731	0.000000	0.08366	0.049000	0.15107	0.0:0.3427:0.0:0.6573	10.075	0.41530	658	0.62094	.;.;Na-Ca exchanger/integrin-beta4|Na-Ca exchanger/integrin-beta4	.	.	.	.	.	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	568.98	41	chr5	90778546	.	C	G	568.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.19;DP=782;ExcessHet=0.0000;FS=2.149;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.01;ReadPosRankSum=2.02;SOR=1.116	GT:AD:DP:GQ:PL	0/1:45,26:71:99:583,0,972	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	0/1:90,73,0,0:163:99:1573,0,2181,1842,2399,4242,1842,2399,4242,4242	0	7	7	0
chr5	113488351	113488351	-	GCCGCTGCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.63_64insGGCAGCGGC:p.G21_S22insGSG,	Colorectal cancer, somatic	.	0	73	103	46	4	199	0.571848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3783	.	0.0057	0	0	0.0032	0	0.0008	0	0.0260	0.0009989	26	26028	rs531679771	0.0043	0.0048	0.0037	0.0049	0.0326	0.0042	0.0042	0.0314	0.0310	0.0004	0.0013	0.0091	0.0236	0.0006	0.0039	0.0021	0.0049	0.0326	0.0037	0.0038	0.0029	0.0045	0.0508	0.0035	0.0034	0.0456	0.0436	0.0008	0	0.0018	0.0098	0.0124	0.0004	0	0.0022	0.0048	0.0508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	37732.13	76	chr5	113488351	.	T	TGCC,TGCCGCTGCC	37732.13	.	AC=22,1;AF=0.524,0.024;AN=42;BaseQRankSum=0.319;DP=2449;ExcessHet=5.5923;FS=0.563;InbreedingCoeff=-0.2494;MLEAC=22,1;MLEAF=0.524,0.024;MQ=60.00;MQRankSum=0.00;QD=25.19;ReadPosRankSum=0.315;SOR=0.655	GT:AD:DP:GQ:PL	0/1:59,53,0:112:99:1878,0,2253,2057,2411,4468	3	5	12	0
chr5	119149603	119149603	C	T	exonic	DMXL1	.	nonsynonymous SNV	DMXL1:NM_001290321:exon18:c.C3776T:p.T1259I	.	.	424	1079	18	1	0	20	0.00918274	.	.	3208731	DMXL1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.14	T	0.102	B	0.048	B	0.012	N	0.839	D	0.755	N	2.92	T	-1.043	T	0.023	T	0.411	1.366	10.49	5.39	2.696	2.749	13.284	0.058	.	.	0.00299521	0.0017	0	0.0003	0	0	0.0002	0.0022	0.0110	0.001423	220	154602	rs539203658	0.0008	0.0008	0.0004	0.0011	0.0107	0.0007	0.0007	0.0101	0.0099	2.988e-05	0.0001	0.0002	0	0	0.0031	0.0001	0.0009	0.0107	0.0004	0.0004	0.0002	0.0007	0.0100	0.0003	0.0003	0.0077	0.0069	7.222e-05	0	0.0001	0.0003	0.0002	0	0	0.0001	0.0005	0.0100	0.204	0.20230	T	.	.	.	0.066	0.25827	B	0.048	0.24975	B	0.011978	0.29336	N	0.409575	0.839345	0.35041	D	1.59	0.40313	L	2.92	0.09915	T	-1.51	0.36787	N	0.402	0.46368	-1.0428	0.16473	T	0.023	0.09787	T	10	0.004542917	0.00094	T	.	.	.	0.058	0.16647	.	.	0.147330786459	0.14319	0.2536839376279002	0.25282	0.073922003083	0.08283	0.448291063309	0.31711	T	0.011993	0.16804	T	-0.492131	0.00633	T	-0.470294	0.25485	T	0.0321104357232268	0.02324	T	0.80342	0.45053	T	0.07441835	0.16699	0.09377533	0.22166	0.07441835	0.16699	0.09377533	0.22165	-1.63	0.02053	T	.	.	0.089	0.16319	B	.;.	.;.	2.851124	0.37639	20.5	0.99108619128877939	0.52674	0.83713	0.42813	D	AEFBI	0.231405	0.35464	N	-0.0197472950531815	0.40962	2.441774	0.176089135131733	0.48542	3.068596	0.844360948181729	0.24925	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.39	5.39	0.77615	2.311000	0.43377	6.018000	0.52751	0.599000	0.40250	0.976000	0.34826	1.000000	0.68203	0.997000	0.79791	0.0:0.9173:0.0:0.0827	13.284	0.59664	877	0.30165	RAVE complex protein Rav1 C-terminal;RAVE complex protein Rav1 C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1846.98	42	chr5	119149603	.	C	T	1846.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.570e-01;DP=998;ExcessHet=0.0000;FS=2.145;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=0.287;SOR=0.495	GT:AD:DP:GQ:PL	0/1:75,66:141:99:1861,0,2150	20	0	1	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	0/1:71,25:96:12:.:.:12,0,1832	14	0	7	0
chr5	131704262	131704262	T	C	exonic	FNIP1	.	nonsynonymous SNV	FNIP1:NM_001008738:exon9:c.A835G:p.I279V	.	.	491	1026	5	0	0	5	0.00243072	.	.	2099442	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.32	T	0.0	B	0.001	B	.	.	1.000	N	0	N	2.82	T	-0.984	T	0.025	T	0.091	1.550	11.14	0.641	0.101	0.708	9.972	0.069	.	7.7e-05	0.0107827	0.0055	0.0001	0	0.0005	0	6.167e-05	0.0011	0.0389	0.0047218	730	154602	rs146451891	0.0024	0.0024	0.0013	0.0036	0.0410	0.0023	0.0023	0.0399	0.0394	3.173e-05	0	0	7.634e-05	0	0.0009	3.64e-05	0.0023	0.0410	0.0014	0.0014	0.0007	0.0020	0.0416	0.0012	0.0011	0.0369	0.0351	4.81e-05	0	0	0	0.0002	0	0	4.411e-05	0	0.0416	0.343	0.13436	T	0.447	0.14200	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	-0.92	0.01311	N	2.81	0.21666	T	0.39	0.03579	N	0.065	0.06990	-0.9836	0.34164	T	0.025	0.10733	T	9	0.0022690296	0.00033	T	.	.	.	0.069	0.20116	.	.	0.043077524339	0.03247	0.20449545504909883	0.20366	0.350778720902	0.36924	.	.	.	0.002333	0.05383	T	-0.663512	0.00060	T	-0.693731	0.06175	T	0.0131143782516074	0.00230	T	0.728327	0.34315	T	0.027675249	0.01993	0.050592557	0.07971	0.027675249	0.01993	0.050592557	0.07971	-3.53	0.18847	T	.	.	0.052	0.00216	B	.;.;.;.;.	.;.;.;.;.	0.689603	0.10580	7.288	0.93205522013343656	0.22876	0.65885	0.32888	D	AEFDBI	0.082371	0.16678	N	-0.582490460457593	0.19476	1.019651	-0.409302167722832	0.24723	1.35551	0.604781915727604	0.21756	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.75	0.641	0.16930	0.723000	0.25609	-0.725000	0.07688	0.665000	0.62972	0.862000	0.30648	0.022000	0.20871	0.999000	0.91618	0.0:0.3323:0.0:0.6677	9.972	0.40927	379	0.83778	.;Tripartite DENN domain, FNIP1/2-type;Tripartite DENN domain, FNIP1/2-type;Tripartite DENN domain, FNIP1/2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	642.98	39	chr5	131704262	.	T	C	642.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=684;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=0.449;SOR=0.857	GT:AD:DP:GQ:PL	0/1:26,26:52:99:657,0,564	20	0	1	0
chr5	132575868	132575868	G	A	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon3:c.G305A:p.C102Y,	Nijmegen breakage syndrome-like disorder	YES	.	.	.	.	.	.	.	.	.	564572	Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.939	D	0.000	D	1.000	D	1.7	L	2.61	T	-1.041	T	0.124	T	0.897	4.218	21.9	5.76	2.715	7.475	18.946	0.475	0.0205504652881	.	0.000199681	3.304e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs573712823	1.99e-05	2.052e-05	1.23e-05	2.758e-05	0.0003	1.396e-05	1.207e-05	0.0002	0.0002	0	0	0	0	0	0.0002	0	3.321e-05	0.0003	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.002	0.72154	D	0.003	0.76473	D	0.997	0.70673	D	0.939	0.67449	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.35	0.67516	M	1.98	0.21865	T	-3.88	0.72710	D	0.722	0.72388	-1.0410	0.17011	T	0.124	0.42715	T	10	0.6001303	0.66865	D	0.02055	0.43168	T	0.475	0.76751	0.404	0.43573	0.854204203725	0.85280	0.7358494702544691	0.73529	.	.	0.776564061642	0.78410	T	0.110751	0.52420	T	0.0158401	0.53819	T	0.106943	0.77370	D	0.70321661233902	0.40872	D	0.886111	0.86917	D	0.81893736	0.85148	0.8640453	0.92456	0.81893736	0.85150	0.8640453	0.92456	-8.345	0.63398	D	0.8010275908832474	0.87778	0.787	0.81629	P	.;.;.;.;.;.	.;.;.;.;.;.	5.342080	0.89632	31	0.99763584978778308	0.85254	0.98051	0.79185	D	AEFGBI	0.891862	0.82824	D	0.775092347477602	0.84525	8.312426	0.787114375133847	0.88883	9.752742	0.999788040302371	0.43007	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.76	5.76	0.90726	7.598000	0.82000	11.524000	0.93058	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.946	0.92596	821	0.40814	.;.;.;.;Rad50/SbcC-type AAA domain;Rad50/SbcC-type AAA domain	.	.	.	.	.	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	987.98	34	chr5	132575868	.	G	A	987.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.674e+00;DP=774;ExcessHet=0.0000;FS=1.868;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=-2.340e-01;SOR=0.572	GT:AD:DP:GQ:PL	0/1:38,39:77:99:1002,0,1048	20	0	1	0
chr5	132861866	132861866	C	T	exonic	GDF9	.	nonsynonymous SNV	GDF9:NM_005260:exon2:c.G1088A:p.S363N	.	.	.	.	.	.	.	.	.	.	.	3258112	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.975	D	0.000	N	0.998	D	1.1	L	-2.45	D	0.429	D	0.706	D	0.108	4.079	21.0	4.37	0.949	3.072	12.594	0.490	0.0433199206454	0.0003	0.000199681	0.0005	0	0	0	0.0003	0.0007	0	0.0008	0.0004334	67	154602	rs61758975	0.0005	0.0005	0.0005	0.0005	0.0007	0.0005	0.0005	0.0006	0.0005	2.987e-05	0.0002	0	0	0.0007	0	0.0005	0.0005	0.0007	0.0003	0.0003	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0004	4.811e-05	0	0.0001	0	0	0.0005	0	0.0006	0.0005	0.0004	0.035	0.43708	D	0.027	0.55341	D	1.0	0.90584	D	0.975	0.73362	D	0.000001	0.84330	N	0.156388	0.998085	0.44492	D	0.93	0.23535	L	-2.45	0.88847	D	-1.35	0.33598	N	0.189	0.20793	0.429	0.89522	D	0.706	0.89871	D	10	0.15435544	0.29116	T	0.04332	0.60920	D	0.490	0.77720	.	.	0.969329858673	0.96899	0.6320052116204505	0.63134	0.118513868032	0.13345	0.53836119175	0.44214	T	0.660926	0.89823	D	-0.322226	0.06717	T	-0.333039	0.41130	T	0.142301127314568	0.16471	T	0.653935	0.27137	T	0.3210494	0.54728	0.28202578	0.54188	0.3127713	0.54025	0.24741174	0.50269	-6.556	0.50716	T	.	.	0.161	0.43130	B	.;.;.;.;.	.;.;.;.;.	3.450334	0.48039	22.6	0.99418855473315582	0.63645	0.92892	0.56803	D	AEFDBI	0.489381	0.52731	N	0.444055675200235	0.63867	4.628875	0.450408218853005	0.64743	4.736636	0.999999238652763	0.74766	0.549168	0.22868	0	0.593476	0.48661	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	6.13	4.37	0.51830	3.132000	0.50218	3.258000	0.37072	-0.178000	0.10482	1.000000	0.71638	0.997000	0.33255	0.982000	0.59238	0.0:0.8662:0.0:0.1338	12.594	0.55813	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|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|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	.	.	.	.	.	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	2122.98	33	chr5	132861866	.	C	T	2122.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.355;DP=892;ExcessHet=0.0000;FS=8.558;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-6.370e-01;SOR=0.486	GT:AD:DP:GQ:PL	0/1:101,83:184:99:2137,0,2610	20	0	1	0
chr5	139381980	139381980	G	A	exonic	SLC23A1	.	nonsynonymous SNV	SLC23A1:NM_005847:exon3:c.C220T:p.H74Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.002	B	0.314	N	1.000	N	-0.205	N	2.27	T	-1.025	T	0.018	T	0.163	1.888	12.27	3.87	2.497	0.460	5.753	0.133	0.00332110348028	.	0.000199681	0.0008	0	0	0	0	0	0	0.0043	0.0002911	45	154602	rs569370877	0.0001	0.0001	6.163e-05	0.0002	0.0020	0.0001	9.911e-05	0.0017	0.0016	0	0	0	0	0	0	0	0.0001	0.0020	6.567e-05	6.561e-05	3.855e-05	9.402e-05	0.0021	3.515e-05	2.615e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	0.446	0.27194	T	0.799	0.04079	T	.	.	.	.	.	.	0.314286	0.14379	N	0.705308	1	0.08975	N	.	.	.	2.27	0.17431	T	-2.51	0.54546	D	0.121	0.11483	-1.0251	0.22050	T	0.018	0.07423	T	10	0.013409883	0.00284	T	0.003321	0.07390	T	0.133	0.36157	0.53	0.63707	0.556422688407	0.55302	0.5210572750268101	0.52028	0.0648658095776	0.07242	0.369481831789	0.20758	T	.	.	.	-0.574893	0.00207	T	-0.602874	0.12572	T	0.0211128868952522	0.00813	T	0.39826	0.10085	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.35808	B	.;.;.	.;.;.	2.695038	0.35192	19.83	0.98790896686371499	0.46285	0.21806	0.21530	N	AEFDGBHCI	0.269153	0.38549	N	-0.556038717890019	0.20294	1.068814	-0.387303360059139	0.25375	1.395046	0.999999981107259	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.82	3.87	0.43823	0.164000	0.16359	8.290000	0.76916	0.665000	0.62972	0.000000	0.06391	1.000000	0.68203	0.592000	0.31189	0.1006:0.0:0.6227:0.2767	5.753	0.17422	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	858.98	34	chr5	139381980	.	G	A	858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.798;DP=779;ExcessHet=0.0000;FS=2.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.99;ReadPosRankSum=0.122;SOR=1.104	GT:AD:DP:GQ:PL	0/1:48,38:86:99:873,0,1092	20	0	1	0
chr5	139887481	139887481	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G731A:p.S244N	.	.	.	.	.	.	.	.	.	.	.	2325350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	0.106	B	0.102	B	0.001	N	0.755	D	0.35	N	1.58	T	-1.019	T	0.045	T	0.06	3.188	16.67	5.29	2.473	2.054	10.020	0.031	0.00739077046255	.	.	8.286e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs774596341	1.371e-06	1.369e-06	1.365e-06	1.378e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	6.59e-06	6.574e-06	0	1.35e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.184	0.23360	T	0.164	0.31026	T	0.087	0.26037	B	0.062	0.30857	B	0.000522	0.43581	N	0.227934	0.755028	0.33972	D	0.135	0.08676	N	1.58	0.29085	T	-0.32	0.21003	N	0.423	0.46274	-1.0194	0.23910	T	0.045	0.19518	T	10	0.22371674	0.39157	T	0.007391	0.19603	T	0.031	0.07369	0.366	0.37361	0.498748557451	0.49510	0.4556412808571356	0.45482	0.884494878246	0.69920	0.694656133652	0.66374	T	0.195255	0.55127	T	-0.302609	0.08415	T	-0.672453	0.07451	T	0.361964405132886	0.27486	T	0.79652	0.44558	T	0.08836372	0.20609	0.102840796	0.24660	0.08836372	0.20609	0.102840796	0.24659	-7.518	0.70016	D	.	.	0.221	0.45409	B	.;.;.;.;.;.	.;.;.;.;.;.	3.573511	0.50344	22.9	0.99603636505572957	0.74338	0.69576	0.34242	D	AEFBI	0.254283	0.37363	N	-0.162749740398921	0.34693	1.983396	0.0478054099699094	0.41967	2.53021	0.600115135775481	0.21718	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	5.29	0.74430	2.879000	0.48220	5.991000	0.52331	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9072:0.0:0.0928	10.020	0.41207	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2941	1317.98	74	chr5	139887481	.	C	T	1317.98	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-4.144e+00;DP=2291;ExcessHet=6.1002;FS=235.435;InbreedingCoeff=-0.3991;MLEAC=11;MLEAF=0.324;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=0.733;SOR=11.408	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,20:112:29:0|1:139887481_C_T:29,0,3101:139887481	7	0	10	4
chr5	139887483	139887483	C	G	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G729C:p.K243N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.928	P	0.653	P	0.001	D	0.844	D	1.37	L	-0.42	T	-0.572	T	0.250	T	0.143	3.573	18.21	1.49	-0.008	0.043	8.579	0.129	0.0404591134086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	0.0001	0	1.376e-06	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.61437	D	0.159	0.58089	T	0.355	0.51611	B	0.285	0.52567	B	0.000553	0.43413	D	0.190992	0.843543	0.35106	D	0.855	0.21307	L	-0.42	0.69536	T	-2.26	0.50502	N	0.611	0.62781	-0.5718	0.65943	T	0.250	0.61993	T	10	0.51356286	0.62236	D	0.040459	0.59387	D	0.129	0.35316	0.432	0.48171	0.770213433332	0.76810	0.7045747211234696	0.70399	1.82077106802	0.91947	0.807813405991	0.83157	D	0.308239	0.68034	T	-0.142554	0.29486	T	-0.442546	0.28523	T	0.832137286663055	0.48697	D	0.877812	0.59215	D	0.16882665	0.37363	0.1489359	0.35185	0.16882665	0.37363	0.1489359	0.35184	-8.046	0.70185	D	.	.	0.798	0.86783	P	.;.;.;.;.;.	.;.;.;.;.;.	3.258046	0.44540	22.0	0.99831464818289628	0.91284	0.76178	0.37342	D	AEFBI	0.317848	0.42172	N	-0.0410797527166822	0.40002	2.368239	-0.0277489813419687	0.38467	2.266707	0.00604997340288372	0.11113	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	1.49	0.21966	0.199000	0.17037	0.102000	0.14662	-0.182000	0.10109	0.995000	0.38783	0.922000	0.28345	0.994000	0.71098	0.0:0.6914:0.0:0.3086	8.579	0.32777	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1380.18	70	chr5	139887483	.	C	G,T	1380.18	.	AC=7,3;AF=0.184,0.079;AN=38;BaseQRankSum=-4.039e+00;DP=2146;ExcessHet=6.1002;FS=245.753;InbreedingCoeff=-0.3923;MLEAC=8,3;MLEAF=0.211,0.079;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=0.802;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,20,0:112:29:0|1:139887481_C_T:29,0,3101,303,3157,3460:139887481	9	0	7	2
chr5	140436224	140436224	C	G	exonic	ANKHD1;ANKHD1-EIF4EBP3	.	nonsynonymous SNV	ANKHD1:NM_001197030:exon2:c.C427G:p.Q143E	.	.	433	1075	13	1	0	15	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.969	D	0.93	D	0.000	D	1.000	D	1.04	L	0.02	T	-0.395	T	0.296	T	0.685	3.874	19.68	5.47	2.534	7.772	19.344	0.334	0.0250461640452	0.0059	0.00119808	0.0052	0.0010	0.0012	0.0001	0.0092	0.0080	0.0034	0.0006	0.0052069	805	154602	rs61758138	0.0064	0.0064	0.0067	0.0062	0.0072	0.0063	0.0063	0.0071	0.0071	0.0012	0.0014	0.0090	2.563e-05	0.0110	0.0035	0.0072	0.0050	0.0006	0.0048	0.0048	0.0047	0.0049	0.0066	0.0045	0.0044	0.0061	0.0059	0.0010	0.0077	0.0022	0.0086	0.0002	0.0145	0.0102	0.0066	0.0038	0.0004	0.003	0.72154	D	0.017	0.63918	D	0.928	0.56768	P	0.778	0.66466	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.25	0.63811	M	-0.31	0.68474	T	-2.21	0.53577	N	0.73	0.82257	-0.3953	0.72175	T	0.296	0.66735	T	10	0.010007113	0.00224	T	0.025046	0.48032	D	0.334	0.65620	.	.	0.595572240033	0.59236	0.6421654533054104	0.66728	0.692019149431	0.60635	0.705172419548	0.67893	T	0.061483	0.31665	T	-0.171475	0.25011	T	-0.00611437	0.69938	D	0.0465401649666867	0.04882	T	0.992301	0.98937	D	0.51218176	0.67806	0.5848126	0.75925	0.51218176	0.67807	0.5848126	0.75925	-6.474	0.57229	T	.	.	0.456	0.72075	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.732178	0.53391	23.4	0.98973959600621353	0.49600	0.98611	0.84680	D	AEFBI	0.905402	0.85689	D	0.6373569727182	0.75552	6.326351	0.6866306696663	0.81363	7.509094	0.999999999999837	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.47	5.47	0.80345	7.902000	0.86082	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.344	0.94345	121	0.95159	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	554.98	33	chr5	140436224	.	C	G	554.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.924e+00;DP=700;ExcessHet=0.0000;FS=8.172;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.23;ReadPosRankSum=-7.280e-01;SOR=0.119	GT:AD:DP:GQ:PL	0/1:16,23:39:99:569,0,479	20	0	1	0
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	0/1:133,64,11:208:99:.:.:1611,0,2976,899,3326,5486	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	0/1:133,64,11:208:99:.:.:1611,0,2976,899,3326,5486	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	0/1:145,74:219:99:.:.:1263,0,4558	1	0	20	0
chr5	141375804	141375804	G	A	exonic	PCDHGA6	.	nonsynonymous SNV	PCDHGA6:NM_018919:exon1:c.G1721A:p.G574D	.	.	10	1510	2	0	0	2	0.000661813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.995	D	0.949	D	0.008	U	1.000	N	1.43	L	0.28	T	-0.797	T	0.270	T	0.44	1.608	11.33	4.57	2.541	0.796	9.976	0.147	.	.	0.00359425	0.0017	0.0001	8.648e-05	0	0	1.503e-05	0	0.0120	0.0014812	229	154602	rs375695435	0.0007	0.0007	0.0003	0.0010	0.0106	0.0006	0.0006	0.0101	0.0098	0	0	0	0	0	0.0005	8.093e-06	0.0005	0.0106	0.0005	0.0005	0.0003	0.0007	0.0147	0.0004	0.0004	0.0119	0.0109	7.214e-05	0	0	0	0	0	0	0	0	0.0147	0.135	0.26192	T	0.204	0.39492	T	0.975	0.67487	D	0.835	0.68658	P	0.007869	0.31148	U	0.000000	0.999996	0.08975	N	0.895	0.22405	L	0.28	0.59037	T	-6.68	0.92391	D	0.744	0.74371	-0.7967	0.55338	T	0.270	0.64109	T	10	0.008832425	0.00200	T	.	.	.	0.147	0.38986	0.264	0.20946	0.839266715026	0.83773	0.3456527722345539	0.34479	1.07573866889	0.76955	.	.	.	0.160542	0.50443	T	-0.402218	0.02239	T	-0.34114	0.40215	T	0.135002378821729	0.15836	T	0.80292	0.46599	T	0.33532003	0.55904	0.32873034	0.58759	0.33532003	0.55904	0.32873034	0.58758	-12.653	0.87883	D	.	.	0.373	0.59700	A	.;.	.;.	3.538839	0.49694	22.8	0.99452662934818414	0.65376	0.36681	0.25589	N	AEFBI	0.253565	0.37304	N	0.156429322836627	0.49116	3.115699	0.0491670953265761	0.42033	2.535296	0.1225962527458	0.16917	0.676563	0.55306	0	0.588015	0.36545	0	0.576033	0.28219	0	0.600526	0.37237	0	.	.	4.57	4.57	0.55860	0.243000	0.17880	.	.	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.141000	0.19983	0.0:0.2558:0.6064:0.1378	9.976	0.40952	651	0.62880	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3005.98	33	chr5	141375804	.	G	A	3005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.300e-01;DP=1219;ExcessHet=0.0000;FS=2.728;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.15;MQRankSum=-9.100e-02;QD=11.52;ReadPosRankSum=0.547;SOR=0.863	GT:AD:DP:GQ:PL	0/1:145,116:261:99:3020,0,3904	20	0	1	0
chr5	141399395	141399395	G	A	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.G1268A:p.R423K	.	.	422	1048	52	0	0	52	0.0242086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0115815	0.0072	0.0003	0.0010	0.0002	0	0.0009	0.0056	0.0474	0.0062354	964	154602	rs200724467	0.0034	0.0034	0.0020	0.0048	0.0467	0.0033	0.0033	0.0455	0.0450	0.0001	0.0005	0.0010	0.0001	0	0.0083	0.0006	0.0037	0.0467	0.0021	0.0022	0.0013	0.0031	0.0542	0.0020	0.0019	0.0488	0.0467	0.0002	0	0.0006	0.0006	0.0002	0	0	0.0006	0.0009	0.0542	.	.	.	0.978	0.02725	T	0.004	0.12183	B	0.008	0.16862	B	.	.	.	.	1	0.08975	N	-0.12	0.04575	N	.	.	.	.	.	.	0.029	0.01911	.	.	.	.	.	.	.	0.0063636303	0.00144	T	.	.	.	.	.	.	.	0.396345573744	0.39253	0.14224547678667673	0.14147	.	.	.	.	.	0.003024	0.02422	T	-0.578101	0.00198	T	-0.56887	0.15553	T	.	.	.	0.19718	0.02190	T	0.055138256	0.10677	0.13391058	0.32101	0.055138256	0.10676	0.13391058	0.32100	-4.491	0.31382	T	.	.	0.077	0.06387	B	.;.	.;.	0.336922	0.07107	3.681	0.81841351350510849	0.13887	0.02416	0.06831	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.0952349597335558	0.16223	0.145562	0.03210	1	0.097471	0.02872	0	0.072005	0.02045	0	0.234357	0.04698	0	0.129061	0.25605	4.63	1.54	0.22290	0.019000	0.13337	.	.	-0.151000	0.12117	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.4323:0.0:0.4119:0.1558	4.216	0.09991	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	1	0	0	0	0	0	0	0	0	0	0	0.04762	6293.11	118	chr5	141399395	.	G	A	6293.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.65;DP=1983;ExcessHet=0.1072;FS=1.101;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=0.206;SOR=0.589	GT:AD:DP:GQ:PL	0/1:135,140:275:99:3724,0,3348	19	0	2	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	0/1:217,94:311:99:301,0,4268	6	0	15	0
chr5	141408395	141408395	A	G	exonic	PCDHGB6	.	nonsynonymous SNV	PCDHGB6:NM_018926:exon1:c.A193G:p.K65E	.	.	427	992	96	7	0	110	0.052531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.289	B	0.33	B	.	.	1.000	N	2.395	M	1.66	T	-0.966	T	0.092	T	0.514	2.824	15.41	5.38	2.036	1.968	11.343	0.143	.	0.0039	0.0177716	0.0132	0.0018	0.0073	0.0002	0.0002	0.0060	0.0112	0.0649	0.0115652	1788	154602	rs200317374	0.0090	0.0090	0.0072	0.0109	0.0640	0.0089	0.0088	0.0626	0.0620	0.0013	0.0071	0.0148	0.0002	0.0005	0.0333	0.0054	0.0104	0.0640	0.0065	0.0065	0.0056	0.0074	0.0700	0.0061	0.0060	0.0638	0.0614	0.0015	0	0.0097	0.0138	0.0002	0	0.0238	0.0053	0.0099	0.0700	0.163	0.23450	T	0.139	0.33666	T	0.245	0.32288	B	0.222	0.42079	B	.	.	.	.	1	0.81001	D	2.305	0.65957	M	1.66	0.27486	T	-2.58	0.55662	D	0.319	0.35938	-0.9662	0.37974	T	0.092	0.35201	T	9	0.0031889975	0.00054	T	.	.	.	0.143	0.38195	.	.	.	.	0.6703808707331448	0.66976	0.709368004076	0.61626	.	.	.	0.027923	0.20342	T	-0.44909	0.01144	T	-0.370749	0.36801	T	0.0475444560771186	0.05062	T	0.354964	0.08219	T	0.2165191	0.44112	0.34913993	0.60543	0.2165191	0.44112	0.34913993	0.60543	-9.816	0.73834	D	.	.	0.290	0.52202	B	.;.	.;.	2.840616	0.37476	20.5	0.99325023159566861	0.59546	0.60219	0.31134	D	AEFDGBI	0.346170	0.44107	N	-0.0240420988650684	0.40769	2.426813	0.0169669784007313	0.40504	2.418219	0.999999795248276	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.519653	0.09787	0	0.56751	0.32155	0	.	.	5.38	5.38	0.77279	2.296000	0.43245	.	.	0.542000	0.25261	0.004000	0.16614	0.001000	0.17328	0.750000	0.35786	0.9269:0.0:0.0731:0.0	11.343	0.48780	814	0.42100	.;Cadherin, N-terminal|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4518.11	35	chr5	141408395	.	A	G	4518.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.424e+00;DP=1281;ExcessHet=0.1072;FS=1.103;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.60;MQRankSum=-7.886e+00;QD=10.91;ReadPosRankSum=0.912;SOR=0.613	GT:AD:DP:GQ:PL	0/1:115,115:230:99:2770,0,3100	19	0	2	0
chr5	146286009	146286009	G	C	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon21:c.G3162C:p.E1054D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.984	D	0.935	D	0.000	D	1.000	D	2.24	M	-1.2	T	-0.077	T	0.530	D	0.312	3.405	17.50	0.414	0.113	1.464	8.777	0.401	0.126694259352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.984	0.60733	D	0.935	0.67021	D	0.000001	0.62929	D	0.000000	0.99994	0.51968	D	2.57	0.75187	M	-1.2	0.78537	T	-2.43	0.53258	N	0.604	0.62188	-0.0768	0.80625	T	0.530	0.82549	D	10	0.56155825	0.64816	D	0.126694	0.80839	D	0.401	0.71479	0.107	0.01868	0.710301815084	0.70777	0.0974803881878346	0.09679	0.986908435057	0.73940	0.789129674435	0.80310	T	0.342279	0.71108	T	0.0376074	0.56730	T	-0.183756	0.56173	T	0.978155314922333	0.72188	D	0.924008	0.72230	D	0.5375406	0.69258	0.40438652	0.64867	0.5375406	0.69260	0.40438652	0.64868	-4.2	0.26751	T	.	.	0.635	0.70325	P	.	.	3.296734	0.45235	22.1	0.99785765923896841	0.87219	0.89146	0.49438	D	AEFGBI	0.237189	0.35951	N	0.309027367486255	0.56610	3.826061	0.216695905855177	0.50773	3.265896	0.999903693258869	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	0.414	0.15624	1.641000	0.36812	2.352000	0.32320	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.6152:0.0:0.3848:0.0	8.777	0.33924	839	0.37672	.	.	.	.	.	.	Uncertain significance	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	0.2273	429.3	78	chr5	146286009	.	G	C	429.3	.	AC=5;AF=0.227;AN=22;BaseQRankSum=-1.959e+00;DP=1556;ExcessHet=1.1607;FS=123.785;InbreedingCoeff=-0.3072;MLEAC=7;MLEAF=0.318;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.696;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,16:114:11:0|1:146286009_G_C:11,0,3254:146286009	6	0	5	10
chr5	146286010	146286010	T	C	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon21:c.T3163C:p.S1055P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.969	D	0.000	D	1.000	D	1.445	L	0.46	T	-0.526	T	0.275	T	0.605	3.216	16.77	5.32	1.998	3.571	15.261	0.178	0.0196224470012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.17	0.30436	T	0.995	0.67487	D	0.969	0.72001	D	0.000002	0.62929	D	0.000000	0.999957	0.52396	D	1.61	0.41143	L	0.46	0.56281	T	-2.19	0.49352	N	0.266	0.30118	-0.5258	0.67699	T	0.275	0.64701	T	10	0.2888462	0.46467	T	0.019622	0.42029	T	0.178	0.44724	0.108	0.01928	0.426039362998	0.42221	0.09694692585479496	0.09626	0.396786836768	0.40786	0.812551379204	0.83882	D	0.251116	0.62132	T	0.0244463	0.54980	T	-0.202661	0.54394	T	0.871832430362701	0.52172	D	0.90281	0.66017	D	0.4725479	0.65447	0.58739346	0.76067	0.4725479	0.65448	0.58739346	0.76068	-7.368	0.56679	T	.	.	0.622	0.69779	P	.	.	4.230383	0.64060	24.7	0.99856421454609945	0.93548	0.91631	0.53932	D	AEFGBI	0.628167	0.61035	D	0.54245640395686	0.69625	5.38347	0.542800382085668	0.70898	5.573445	0.999999878418952	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	3.683000	0.54396	6.145000	0.54110	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.261	0.73323	839	0.37672	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09375	51.57	41	chr5	146286010	.	T	C	51.57	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-2.225e+00;DP=1488;ExcessHet=0.3300;FS=111.728;InbreedingCoeff=-0.1555;MLEAC=3;MLEAF=0.094;MQ=60.00;MQRankSum=0.00;QD=0.21;ReadPosRankSum=-2.400e-02;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,16:114:11:0|1:146286009_G_C:11,0,3254:146286009	13	0	3	5
chr5	149621740	149621740	G	A	exonic	ARHGEF37	.	nonsynonymous SNV	ARHGEF37:NM_001001669:exon9:c.G1013A:p.R338Q,	.	.	419	1033	67	3	0	73	0.0341281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.867	P	0.4	B	0.000	N	1.000	D	2.595	M	-0.06	T	-0.553	T	0.282	T	0.533	4.331	22.8	5.31	1.634	6.692	15.280	0.287	.	0.0017	0.00239617	0.0035	0.0005	0.0013	0.0002	0.0002	0.0026	0.0035	0.0150	0.0030659	474	154602	rs139526604	0.0020	0.0020	0.0015	0.0025	0.0186	0.0019	0.0019	0.0158	0.0147	0.0004	0.0010	0.0044	0.0002	0.0002	0.0186	0.0011	0.0026	0.0137	0.0015	0.0015	0.0013	0.0018	0.0097	0.0014	0.0013	0.0075	0.0067	0.0003	0	0.0019	0.0038	0.0002	0.0004	0.0034	0.0018	0.0028	0.0097	0.028	0.46129	D	0.039	0.51112	D	0.867	0.47667	P	0.4	0.44481	B	0.000024	0.55875	N	0.111842	1	0.81001	D	2.36	0.67893	M	-0.06	0.63568	T	-2.91	0.60982	D	0.196	0.21580	-0.5533	0.66661	T	0.282	0.65359	T	10	0.008068293	0.00183	T	.	.	.	0.287	0.60574	.	.	0.275215494804	0.27121	0.5262534306056779	0.52549	0.307136892763	0.33015	0.341207176447	0.16619	T	0.057572	0.30604	T	-0.238972	0.15480	T	-0.105012	0.63007	T	0.0394868305183321	0.03597	T	0.805919	0.45429	T	0.30385897	0.53248	0.41543442	0.65658	0.30385897	0.53248	0.41543442	0.65658	-2.71	0.07387	T	.	.	0.08	0.07793	B	.	.	3.930896	0.57454	23.9	0.99923209850801342	0.98917	0.98856	0.87762	D	AEFBI	0.633477	0.61371	D	0.47385892718642	0.65568	4.838959	0.506868326422859	0.68453	5.22189	0.999999999995626	0.74766	0.372202	0.05800	0	0.547309	0.14657	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	6.17	5.31	0.75063	6.854000	0.75239	7.439000	0.58857	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0672:0.0:0.9328:0.0	15.280	0.73478	795	0.45444	BAR domain|BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1822.11	33	chr5	149621740	.	G	A	1822.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.48;DP=878;ExcessHet=0.1072;FS=0.620;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=2.15;SOR=0.633	GT:AD:DP:GQ:PL	0/1:51,42:93:99:1108,0,1163	19	0	2	0
chr5	150896215	150896215	T	C	exonic	ZNF300	.	nonsynonymous SNV	ZNF300:NM_001172832:exon5:c.A916G:p.I306V	.	.	411	1106	4	1	0	6	0.00270514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.063	B	0.103	B	.	.	1.000	N	-0.36	N	2.27	T	-0.937	T	0.017	T	0.186	-1.383	0.025	3.14	1.440	0.054	5.032	0.050	.	.	0.00239617	0.0021	0	8.766e-05	0.0001	0	0.0002	0.0033	0.0139	0.00174	269	154602	rs199921485	0.0009	0.0009	0.0006	0.0012	0.0121	0.0009	0.0008	0.0115	0.0113	2.989e-05	2.241e-05	0.0003	2.519e-05	0	0.0019	0.0002	0.0012	0.0121	0.0005	0.0005	0.0003	0.0007	0.0124	0.0004	0.0004	0.0099	0.0090	4.813e-05	0	0	0	0	0	0	0.0002	0	0.0124	0.736	0.07259	T	0.321	0.20164	T	0.063	0.23376	B	0.103	0.30945	B	.	.	.	.	1	0.18612	N	-0.28	0.03718	N	2.27	0.17431	T	0.02	0.06739	N	0.13	0.14196	-0.9367	0.43134	T	0.017	0.06902	T	9	0.0086912215	0.00197	T	.	.	.	0.050	0.13987	.	.	0.27855597813	0.27464	0.011911820871451442	0.01151	0.274175235635	0.29914	0.695755243301	0.66532	T	0.006537	0.05971	T	-0.631214	0.00094	T	-0.668441	0.07708	T	0.0263360561209093	0.01451	T	0.157784	0.01400	T	0.032282185	0.03224	0.04254942	0.05093	0.032282185	0.03224	0.04254942	0.05093	-3.678	0.19895	T	.	.	0.223	0.46049	B	.;.;.;.	.;.;.;.	1.729140	0.22006	15.44	0.80443920630631982	0.13206	0.00021	0.00226	N	AEDBHCI	0.050430	0.08812	N	-0.788669896561286	0.13605	0.6714164	-0.657147146860922	0.18037	0.9617449	0.0136792501649907	0.12496	0.706548	0.73137	0	0.588015	0.36545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.14	3.14	0.35196	-1.787000	0.01861	-1.973000	0.04409	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.999000	0.91618	0.0:0.1385:0.0:0.8615	5.032	0.13755	648	0.63242	.;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	1572.98	34	chr5	150896215	.	T	C	1572.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.92;DP=835;ExcessHet=0.0000;FS=0.702;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.80;ReadPosRankSum=-3.750e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/1:61,53:114:99:1587,0,1700	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	0/1:90,35:138:67:67,0,1819	6	0	15	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	114730.68	413	chr5	157052557	.	C	*,CGTT	114730.68	.	AC=31,10;AF=0.738,0.238;AN=42;DP=11099;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=31,10;MLEAF=0.738,0.238;MQ=60.00;QD=11.64;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,444,0:444:99:.:.:19797,1348,0,19797,1348,19797	0	12	1	0
chr5	157098893	157098893	G	A	exonic	HAVCR2	.	stopgain	HAVCR2:NM_032782:exon4:c.C487T:p.Q163X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	.	.	.	.	0.486	N	1.000	A	.	.	.	.	.	.	.	.	.	7.133	38	3.17	0.734	0.604	10.811	.	.	.	.	5.775e-05	0	0	0	0	0.0001	0	0	6.47e-05	10	154602	rs778542518	7.051e-05	7.114e-05	6.539e-05	7.568e-05	0.0003	5.918e-05	5.526e-05	6.964e-05	6.459e-05	0	2.238e-05	3.829e-05	0	0	0.0003	8.369e-05	9.939e-05	0	6.574e-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	.	.	.	.	.	.	.	.	.	.	.	.	0.486312	0.12107	N	0.714208	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.866	0.86297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426497	0.91352	D	0.566539	0.96104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	6.929229	0.95926	35	0.9899991621150146	0.50127	0.70579	0.34649	D	AEFI	0.122536	0.23772	N	0.320487834574937	0.57202	3.886603	0.102419210657952	0.44671	2.744433	0.949750381762206	0.27861	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.01	3.17	0.35510	0.621000	0.24112	2.759000	0.34591	-0.174000	0.10959	0.985000	0.35982	0.985000	0.30750	0.278000	0.23967	0.0:0.0:0.6554:0.3446	10.811	0.45747	599	0.68140	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	563.98	34	chr5	157098893	.	G	A	563.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.410e-01;DP=683;ExcessHet=0.0000;FS=1.022;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.72;ReadPosRankSum=-2.580e-01;SOR=0.520	GT:AD:DP:GQ:PL	0/1:32,26:58:99:578,0,774	20	0	1	0
chr5	157139217	157139217	A	T	exonic	MED7	.	nonsynonymous SNV	MED7:NM_001100816:exon2:c.T215A:p.F72Y	.	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.02	B	0.05	B	0.000	D	1.000	D	0.75	N	.	.	-1.034	T	0.114	T	0.626	2.439	14.11	4.75	1.070	9.058	11.779	0.204	0.00295358484609	.	.	0.0002	0	0.0003	0	0	3.001e-05	0	0.0009	0.0001294	20	154602	rs748521096	6.984e-05	6.977e-05	4.497e-05	9.496e-05	0.0008	5.852e-05	5.462e-05	0.0007	0.0006	0	6.763e-05	3.839e-05	0	0	0.0005	2.069e-05	4.973e-05	0.0008	2.627e-05	2.626e-05	0	5.377e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.981e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.234	0.18061	T	0.479	0.11933	T	0.02	0.18235	B	0.05	0.25278	B	0.000000	0.84330	D	0.048339	1	0.81001	D	0.275	0.09989	N	.	.	.	-0.65	0.18877	N	0.539	0.58287	-1.0345	0.19014	T	0.114	0.40513	T	9	0.09953117	0.18069	T	0.002954	0.06280	T	0.204	0.49076	0.555	0.67271	0.730203931639	0.72780	0.8136872817859093	0.81324	0.461233858112	0.45668	0.89998459816	0.96439	D	0.072826	0.34548	T	-0.193217	0.21786	T	-0.130846	0.60901	T	0.0711310186614211	0.08808	T	0.847215	0.52823	T	0.14236706	0.32765	0.07699407	0.17110	0.14236706	0.32765	0.07699407	0.17109	-3.612	0.18031	T	.	.	0.285	0.51832	B	.;.;.	.;.;.	3.004944	0.40166	21.1	0.93829404113450843	0.23815	0.98713	0.85906	D	AEFBI	0.886896	0.81868	D	-0.165214456695892	0.34589	1.976161	0.0579460320568165	0.42457	2.568372	0.999999996353939	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.91	4.75	0.59954	9.050000	0.93297	9.238000	0.79403	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.932:0.0:0.068:0.0	11.779	0.51274	643	0.63827	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1801.98	34	chr5	157139217	.	A	T	1801.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.439;DP=836;ExcessHet=0.0000;FS=2.132;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=0.013;SOR=0.829	GT:AD:DP:GQ:PL	0/1:70,70:140:99:1816,0,1675	20	0	1	0
chr5	176575579	176575579	C	T	exonic	CDHR2	.	nonsynonymous SNV	CDHR2:NM_001171976:exon10:c.C842T:p.S281F	.	.	426	1089	7	0	0	7	0.00320366	0.9996	0.972	2305511	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.942	P	0.823	P	.	.	0.868	D	1.575	L	0.58	T	-0.575	T	0.235	T	0.428	3.079	16.28	4.27	2.197	1.250	14.668	0.237	0.109617972318	0.0003	0.00119808	0.0003	9.651e-05	0.0003	0	0	0.0005	0	0.0001	0.0003493	54	154602	rs144549731	0.0004	0.0004	0.0004	0.0004	0.0052	0.0003	0.0003	0.0037	0.0032	5.974e-05	0.0006	0	0	0	0.0052	0.0004	0.0008	0.0002	0.0003	0.0003	0.0004	0.0002	0.0007	0.0002	0.0002	0.0004	0.0003	7.217e-05	0	0.0007	0	0	0	0.0034	0.0004	0	0.0004	0.005	0.63226	D	0.002	0.79402	D	0.942	0.52977	P	0.823	0.59197	P	.	.	.	.	0.867816	0.35506	D	1.87	0.49600	L	0.58	0.54149	T	-3.16	0.64246	D	0.565	0.59478	-0.5750	0.65816	T	0.235	0.60234	T	9	0.22237495	0.38988	T	0.109618	0.78666	D	0.237	0.54074	.	.	0.672348424749	0.66957	0.23099209589443323	0.23014	0.579986830217	0.53854	0.442862004042	0.30969	T	0.02031	0.16015	T	-0.298101	0.08840	T	-0.304068	0.44293	T	0.187617853283882	0.19703	T	0.794521	0.43681	T	0.4138759	0.61682	0.44913152	0.67933	0.4138759	0.61682	0.44913152	0.67934	-4.73	0.33765	T	.	.	0.230	0.47708	B	.;.;.	.;.;.	4.810763	0.78262	26.9	0.99773742327722725	0.86174	0.88695	0.48745	D	AEFBI	0.516531	0.54302	D	0.300237858891831	0.56162	3.780484	0.255094920129828	0.52940	3.465581	0.898056707548151	0.26016	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.27	4.27	0.50009	0.968000	0.28955	4.729000	0.44544	0.500000	0.22704	0.981000	0.35396	1.000000	0.68203	0.716000	0.34643	0.0:1.0:0.0:0.0	14.668	0.68528	373	0.84140	Cadherin-like|Cadherin-like;Cadherin-like|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	972.98	45	chr5	176575579	.	C	T	972.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.540e-01;DP=990;ExcessHet=0.0000;FS=2.030;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=1.56;SOR=0.721	GT:AD:DP:GQ:PL	0/1:31,37:68:99:987,0,879	20	0	1	0
chr5	179079176	179079176	G	C	exonic	ZNF354C	.	nonsynonymous SNV	ZNF354C:NM_014594:exon5:c.G744C:p.E248D,	.	.	412	1107	2	0	1	3	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.266	B	0.166	B	.	.	1.000	N	0.545	N	3.19	T	-0.941	T	0.005	T	0.09	1.759	11.84	-1.49	-0.230	-3.578	8.540	0.016	.	0.0109	0.00878594	0.0027	0.0314	0.0010	0	0	1.502e-05	0.0011	0	0.0026261	406	154602	rs73806871	0.0009	0.0009	0.0010	0.0008	0.0311	0.0008	0.0008	0.0295	0.0289	0.0311	0.0014	0	0	0	0.0009	4.856e-05	0.0020	9.275e-05	0.0086	0.0086	0.0086	0.0086	0.0299	0.0082	0.0081	0.0285	0.0280	0.0299	0	0.0029	0	0	0	0	0.0001	0.0066	0	0.18	0.21968	T	0.241	0.24334	T	0.266	0.31648	B	0.166	0.35067	B	.	.	.	.	0.999964	0.18878	N	0.18	0.09070	N	3.19	0.07353	T	-2.4	0.52776	N	0.067	0.03956	-0.9413	0.42410	T	0.005	0.01833	T	9	0.005884379	0.00132	T	.	.	.	0.016	0.02506	0.369	0.37850	0.0884992946249	0.08302	0.0719089405218831	0.07127	0.103376873501	0.11688	0.338298857212	0.16183	T	0.022545	0.17365	T	-0.717999	0.00028	T	-0.780447	0.02440	T	0.0189999789355052	0.00609	T	0.180982	0.01814	T	0.10517152	0.24866	0.14627737	0.34660	0.10517152	0.24865	0.14627737	0.34659	-6.172	0.47696	T	.	.	0.189	0.40618	B	.	.	1.318186	0.17221	13.03	0.99491848655026349	0.67516	0.00346	0.01789	N	AEFBHCI	0.100966	0.20290	N	-1.00497166837229	0.08499	0.3987779	-1.02421919503319	0.09253	0.4593264	5.56717297935958E-4	0.07304	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.221012	0.04332	2	.	.	3.7	-1.49	0.08259	-4.144000	0.00324	-0.622000	0.08169	-0.169000	0.11342	0.000000	0.06391	0.001000	0.17328	0.994000	0.71098	0.6917:0.0:0.3083:0.0	8.540	0.32551	856	0.34373	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1908.98	34	chr5	179079176	.	G	C	1908.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.74;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=-1.059e+00;SOR=0.700	GT:AD:DP:GQ:PL	0/1:81,63:144:99:1923,0,2126	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|1:0,95,0:95:99:1|1:179522611_C_T:4244,286,0,4244,286,4244:179522611	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|1:0,95,0:95:99:1|1:179522611_C_T:4244,286,0,4244,286,4244:179522611	9	3	5	3
chr5	179733353	179733353	A	C	exonic	MAML1	.	nonsynonymous SNV	MAML1:NM_014757:exon1:c.A241C:p.T81P,	.	.	405	1113	2	0	2	4	0.000897666	.	.	2334360	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.25	T	0.0	B	0.0	B	0.501	N	1.000	N	-1.245	N	1.84	T	-0.990	T	0.016	T	0.126	-0.804	0.665	-0.8	-0.415	-0.984	.	0.013	0.364045220232	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs1181039293	0.0004	0.0004	0.0004	0.0004	0.0067	0.0004	0.0004	0.0044	0.0037	0.0020	0.0002	0	4.368e-05	0	0.0067	0.0004	0.0008	0	0.0004	0.0004	0.0004	0.0004	0.0006	0.0003	0.0003	0.0004	0.0004	0.0003	0	0.0002	0	0.0002	0	0	0.0006	0.0005	0	0.556	0.06461	T	0.35	0.17478	T	0.0	0.02946	B	0.0	0.01387	B	0.500796	0.11952	N	0.645913	0.999994	0.08975	N	-0.805	0.01590	N	1.84	0.24656	T	0.48	0.03041	N	0.078	0.05287	-0.9895	0.32727	T	0.016	0.06521	T	9	0.03294733	0.01458	T	0.364045	0.92583	D	0.013	0.01715	0.193	0.10437	0.21174354426	0.20776	0.2036546507689071	0.20282	2.16513908012	0.95402	0.872025847435	0.92856	D	0.222516	0.58639	T	-0.520645	0.00436	T	-0.566199	0.15800	T	0.0322306735085712	0.02344	T	.	.	.	0.09387436	0.22058	0.14964598	0.35324	0.09387436	0.22057	0.14964598	0.35323	-0.247	0.00449	T	.	.	0.047	0.00070	B	.	.	-0.673381	0.01383	0.080	0.30179850268404473	0.01638	0.00506	0.02376	N	AEFDGBHCI	0.028488	0.02518	N	-1.61030763429906	0.01214	0.05278206	-1.6487976611737	0.01382	0.06243842	0.999999762591167	0.74766	0.242642	0.04205	2	0.166054	0.03914	2	0.391439	0.06340	0	0.56214	0.19341	0	.	.	0.4	-0.8	0.10347	-0.533000	0.06245	-2.421000	0.03775	-3.181000	0.00113	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	.	.	.	793	0.45818	.	.	.	.	.	.	Uncertain significance	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	221.98	13	chr5	179733353	.	A	C	221.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.561;DP=643;ExcessHet=0.0000;FS=1.824;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.65;ReadPosRankSum=-2.144e+00;SOR=1.270	GT:AD:DP:GQ:PL	0/1:14,9:23:99:236,0,398	20	0	1	0
chr5	179774000	179774000	A	G	exonic	MAML1	.	nonsynonymous SNV	MAML1:NM_014757:exon5:c.A2174G:p.H725R,	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.965	D	0.549	P	0.000	D	0.695	D	1.735	L	0.89	T	-0.760	T	0.123	T	0.557	1.464	10.84	3.86	1.920	4.564	11.571	0.125	0.0358730831021	.	0.000199681	8.247e-05	9.619e-05	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs200552115	0.0001	0.0001	0.0001	0.0002	0.0033	0.0001	0.0001	0.0022	0.0018	0.0012	2.236e-05	0	0	0	0.0033	9.352e-05	0.0004	2.319e-05	9.846e-05	0.0001	8.991e-05	0.0001	0.0001	6.001e-05	4.875e-05	6.266e-05	4.289e-05	0.0001	0	6.534e-05	0	0	0	0	0.0001	0.0005	0	0.02	0.49613	D	0.39	0.15506	T	0.965	0.56013	D	0.549	0.49194	P	0.000184	0.48115	D	0.142501	0.694819	0.33362	D	2.54	0.74080	M	0.89	0.45636	T	-1.97	0.45587	N	0.442	0.48042	-0.7601	0.57400	T	0.123	0.42462	T	10	0.2664847	0.44154	T	0.035873	0.56631	D	0.125	0.34456	.	.	0.488432995468	0.48476	0.34408772170986784	0.34322	0.36447533085	0.38064	0.605664253235	0.53705	T	0.457516	0.79586	T	-0.223797	0.17477	T	-0.310937	0.43557	T	0.221367850899696	0.21532	T	.	.	.	0.09238508	0.21672	0.11894565	0.28711	0.09238508	0.21671	0.11894565	0.28710	-3.06	0.10842	T	.	.	0.165	0.36396	B	.	.	3.539772	0.49704	22.8	0.98369607363537137	0.40729	0.90568	0.51852	D	AEFDGBI	0.325583	0.42712	N	0.263662490771709	0.54318	3.597651	0.239267195254156	0.52042	3.381772	0.999997946608554	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.1	3.86	0.43689	4.627000	0.60975	7.707000	0.66598	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.588000	0.31090	0.8507:0.1493:0.0:0.0	11.571	0.50089	882	0.29131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3156.98	34	chr5	179774000	.	A	G	3156.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.580e-01;DP=954;ExcessHet=0.0000;FS=1.008;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=-1.473e+00;SOR=0.767	GT:AD:DP:GQ:PL	0/1:104,127:231:99:3171,0,2578	20	0	1	0
chr5	180630053	180630053	C	T	exonic	FLT4	.	nonsynonymous SNV	FLT4:NM_001354989:exon5:c.G566A:p.R189Q	Hemangioma, capillary infantile, somatic;Lymphedema, hereditary, IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.276	B	0.036	B	.	.	0.530	D	1.67	L	3.52	T	-1.004	T	0.014	T	0.099	2.450	14.15	-0.026	-0.011	-0.243	4.343	0.028	0.00842059716546	7.7e-05	.	1.671e-05	0	8.669e-05	0.0001	0	0	0	0	1.29e-05	2	154602	rs369974304	1.506e-05	1.505e-05	1.362e-05	1.652e-05	0.0003	9.86e-06	8.42e-06	6.092e-05	3.165e-05	8.961e-05	4.472e-05	0	0.0001	0	0.0003	8.094e-06	1.656e-05	0	1.314e-05	1.313e-05	2.569e-05	0	4.827e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	0	0	0	0.118	0.32769	T	0.288	0.31225	T	0.014	0.29111	B	0.004	0.17743	B	.	.	.	.	0.529658	0.31964	D	1.1	0.28011	L	3.52	0.04905	T	-0.96	0.25551	N	0.14	0.21449	-1.0041	0.28725	T	0.014	0.05657	T	9	0.10126886	0.18493	T	0.008421	0.22282	T	0.028	0.06331	.	.	0.043077524339	0.03247	0.802820654888154	0.80236	0.700580670859	0.61104	0.305345386267	0.11204	T	0.17476	0.52409	T	-0.437408	0.01339	T	-0.696954	0.05994	T	0.0640385746955872	0.07789	T	0.839616	0.51418	T	0.1026287	0.24253	0.049877767	0.07714	0.1026287	0.24253	0.049877767	0.07713	-2.341	0.04784	T	0.10962745201460483	0.09174	0.065	0.04041	B	.;.;.;.	.;.;.;.	1.423083	0.18399	13.72	0.99225387793817976	0.56026	0.19707	0.20764	N	AEFDBI	0.073819	0.14778	N	-0.665614644935655	0.17008	0.8715141	-0.602831234700176	0.19420	1.041835	0.0482378625995534	0.14761	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.674467	0.66132	0	.	.	5.16	-0.0262	0.13257	-0.094000	0.11060	-2.162000	0.04122	-0.182000	0.10109	0.091000	0.22601	0.000000	0.08366	0.545000	0.30055	0.1619:0.3154:0.0:0.5227	4.343	0.10558	878	0.29785	.;.;.;.	.	.	.	.	.	Uncertain significance	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	1650.98	36	chr5	180630053	.	C	T	1650.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.19;DP=850;ExcessHet=0.0000;FS=0.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=0.519;SOR=0.760	GT:AD:DP:GQ:PL	0/1:75,61:136:99:1665,0,1840	20	0	1	0
chr6	7581514	7581514	G	T	exonic	DSP	.	nonsynonymous SNV	DSP:NM_004415:exon23:c.G5324T:p.R1775I,	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	1514	8	0	0	8	0.00263505	.	.	171103	not_specified|not_provided|Cardiomyopathy|Woolly_hair-skin_fragility_syndrome|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis|Lethal_acantholytic_epidermolysis_bullosa|Keratosis_palmoplantaris_striata_2|Arrhythmogenic_right_ventricular_dysplasia_8|Arrhythmogenic_right_ventricular_cardiomyopathy	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.93	P	0.459	P	0.000	D	1.000	D	0.805	L	-0.68	T	-0.877	T	0.128	T	0.788	2.431	14.09	5.15	1.561	5.301	7.382	0.492	0.0299023579842	7.7e-05	0.000199681	8.338e-05	0	0	0	0	3.028e-05	0	0.0005	7.76e-05	12	154602	rs34738426	5.952e-05	5.951e-05	4.084e-05	7.838e-05	0.0030	4.883e-05	4.561e-05	0.0019	0.0015	0	0	0	0	0	0.0030	3.058e-05	0.0002	0.0003	2.628e-05	2.627e-05	2.569e-05	2.69e-05	0.0004	8.14e-06	5.14e-06	7.285e-05	3.027e-05	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0.0004	0.005	0.63226	D	0.015	0.61642	D	0.93	0.51791	P	0.459	0.46380	P	0.000048	0.53742	D	0.079858	0.999983	0.81001	D	0.55	0.14455	N	-0.68	0.72568	T	-3.99	0.73893	D	0.429	0.46835	-0.8771	0.49989	T	0.128	0.43585	T	10	0.1629838	0.30531	T	0.029902	0.52319	D	0.492	0.77847	.	.	0.898947328051	0.89794	0.3105791730785751	0.30970	0.678622393429	0.59893	0.511270344257	0.40400	T	0.489828	0.81488	T	-0.0438867	0.45371	T	0.00515999	0.70670	D	0.214133379870934	0.21167	T	0.956004	0.83260	D	0.21801612	0.44299	0.20350137	0.44430	0.20951912	0.43221	0.21497515	0.46068	-6.674	0.51614	T	0.15091182289247002	0.17763	0.224	0.45544	B	.	.	4.297185	0.65585	24.9	0.98218536105045307	0.39281	0.96765	0.70819	D	AEFDGBHIJ	0.854311	0.77133	D	0.346671514695878	0.58564	4.029397	0.434678438096115	0.63740	4.613804	0.999999998944917	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.530356	0.10902	0	.	.	6.02	5.15	0.70287	4.554000	0.60470	9.936000	0.82619	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.273:0.0:0.727:0.0	7.382	0.26035	384	0.83545	.	.	.	.	.	.	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	5312.98	45	chr6	7581514	.	G	T	5312.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.575e+00;DP=1371;ExcessHet=0.0000;FS=1.119;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=-2.450e-01;SOR=0.582	GT:AD:DP:GQ:PL	0/1:255,222:477:99:5327,0,6610	20	0	1	0
chr6	10791688	10791688	C	A	exonic	MAK	.	nonsynonymous SNV	MAK:NM_001377262:exon9:c.G1201T:p.D401Y	Retinitis pigmentosa 62, Autosomal recessive	YES	1	1518	3	0	0	3	0.000987167	.	.	831362	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.897	P	0.392	B	0.651	N	1.000	D	2.005	M	-0.8	T	-0.327	T	0.319	T	0.481	1.539	11.10	5.14	2.545	4.999	17.166	0.325	0.161696620619	.	0.000798722	0.0003	0	0	0	0.0003	0.0002	0	0.0010	0.0002587	40	154602	rs201502742	0.0002	0.0002	0.0001	0.0002	0.0006	0.0002	0.0001	0.0005	0.0004	0	6.72e-05	0	0	0.0003	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	3.856e-05	0.0002	0.0015	6.511e-05	5.322e-05	0.0007	0.0005	4.815e-05	0	0	0	0	0	0	0.0001	0	0.0015	0.001	0.78490	D	0.002	0.79402	D	0.897	0.49385	P	0.392	0.44215	B	0.650605	0.10516	N	0.855233	0.83138	0.81001	D	2.045	0.56016	M	-0.85	0.74371	T	-3.09	0.64363	D	0.358	0.39962	-0.3269	0.74225	T	0.319	0.68874	T	10	0.03055188	0.01183	T	0.161697	0.84144	D	0.325	0.64725	0.157	0.06070	0.848898762086	0.84745	0.21707828334580942	0.21623	0.529928466693	0.50547	0.314718008041	0.12621	T	0.132122	0.46201	T	-0.201637	0.20570	T	-0.159821	0.58368	T	0.190983681268227	0.19902	T	0.925907	0.72722	D	0.34108397	0.56366	0.36486036	0.61845	0.31011426	0.53796	0.36878636	0.62161	-4.405	0.29625	T	0.21653405689925576	0.29128	0.104	0.29339	B	.;.;.;.;.	.;.;.;.;.	4.170037	0.62695	24.5	0.9661503212514837	0.30459	0.98633	0.84938	D	AEFBI	0.505559	0.53665	D	0.341637559722135	0.58299	4.001384	0.313156959774708	0.56312	3.794397	0.999954861430024	0.48110	0.522611	0.21652	0	0.54472	0.11627	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.14	5.14	0.70008	5.094000	0.64357	5.864000	0.50463	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	17.166	0.86696	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	0	0	0	0	0.02381	890.98	39	chr6	10791688	.	C	A	890.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.430e-01;DP=767;ExcessHet=0.0000;FS=1.956;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=0.975;SOR=0.483	GT:AD:DP:GQ:PL	0/1:35,37:72:99:905,0,838	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	0/2:48,11,21:80:99:194,103,899,0,761,784	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	0/2:48,11,21:80:99:194,103,899,0,761,784	2	0	6	2
chr6	24495226	24495226	C	G	exonic	ALDH5A1	.	nonsynonymous SNV	ALDH5A1:NM_001080:exon1:c.C230G:p.P77R	Succinic semialdehyde dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.999	D	0.883	P	0.000	D	1.000	D	2.165	M	-0.99	T	0.479	D	0.735	D	0.693	3.239	16.86	3.84	1.679	5.844	12.895	0.550	0.837700405192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.41364	D	0.073	0.43721	T	0.999	0.77913	D	0.883	0.62698	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.69	0.43327	L	-0.99	0.90735	T	-2.18	0.49846	N	0.577	0.60579	0.479	0.90254	D	0.735	0.90930	D	10	0.8044621	0.79803	D	0.838	0.98744	D	0.550	0.81369	0.356	0.35734	0.966274688604	0.96590	0.5077578847228358	0.50697	0.818213744515	0.67034	0.919208407402	0.98262	D	0.371709	0.73603	T	0.230873	0.76803	D	0.093857	0.76501	D	0.97805255651474	0.72138	D	0.989161	0.97430	D	0.8175259	0.85054	0.65795684	0.79967	0.8175259	0.85055	0.65795684	0.79968	-6.788	0.52470	T	.	.	0.094	0.24901	B	.;.;.	.;.;.	4.054178	0.60118	24.2	0.99575881809425648	0.72682	0.86509	0.45804	D	ALL	0.666440	0.63491	D	0.390702200508145	0.60919	4.286207	0.286944763509148	0.54776	3.641693	1.0	0.98316	0.437478	0.07067	0	0.484254	0.07192	0	0.47417	0.07244	0	0.603991	0.37454	0	.	.	3.84	3.84	0.43422	5.905000	0.69631	4.347000	0.43075	0.448000	0.21234	1.000000	0.71638	1.000000	0.68203	0.069000	0.16583	0.0:1.0:0.0:0.0	12.895	0.57483	768	0.49510	Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase 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	477.98	36	chr6	24495226	.	C	G	477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.993e+00;DP=768;ExcessHet=0.0000;FS=2.205;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.84;ReadPosRankSum=-1.834e+00;SOR=1.136	GT:AD:DP:GQ:PL	0/1:36,25:61:99:492,0,965	20	0	1	0
chr6	27311928	27311928	C	T	exonic	POM121L2	.	nonsynonymous SNV	POM121L2:NM_033482:exon1:c.G243A:p.M81I,	.	.	391	1119	12	0	0	12	0.00533333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.567	P	0.464	P	0.001	N	0.909	N	0.515	N	2.9	T	-0.974	T	0.009	T	0.31	-0.363	2.289	3.47	2.242	0.087	10.740	0.076	.	.	0.00179712	0.0040	0	0	0	0	0	0	0.0108	0.0006015	93	154602	rs558295499	0.0004	0.0004	0.0002	0.0006	0.0069	0.0004	0.0004	0.0065	0.0063	0	0	0	0	0	0.0002	3.707e-06	0.0003	0.0069	0.0003	0.0003	0.0002	0.0003	0.0081	0.0002	0.0002	0.0061	0.0054	0	0	0	0	0.0002	0	0	0	0	0.0081	0.783	0.03262	T	0.116	0.36497	T	.	.	.	.	.	.	0.001058	0.40475	N	0.000000	0.90857	0.27555	N	0.915	0.23335	L	2.9	0.10101	T	-0.63	0.18459	N	0.441	0.47949	-0.9736	0.36431	T	0.009	0.03183	T	10	0.0047436357	0.00100	T	.	.	.	0.076	0.22200	0.184	0.09259	0.0551355673512	0.04727	0.07259044147540329	0.07196	.	.	0.460097074509	0.33324	T	0.004385	0.03788	T	-0.56888	0.00225	T	-0.583678	0.14217	T	0.0792048292129971	0.09884	T	0.442956	0.12306	T	0.08988053	0.21014	0.1348092	0.32295	0.08988053	0.21014	0.1348092	0.32294	-2.039	0.03331	T	.	.	0.657	0.71189	P	.	.	1.857787	0.23599	16.08	0.81647003967463772	0.13789	0.26052	0.22881	N	AEFDBHCI	0.052302	0.09323	N	-0.444892359676349	0.23914	1.287553	-0.448544058777557	0.23590	1.287261	0.999993301440678	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	3.47	3.47	0.38831	0.676000	0.24927	0.541000	0.19334	-0.218000	0.08083	0.570000	0.27505	0.001000	0.17328	0.013000	0.09966	0.0:1.0:0.0:0.0	10.740	0.45346	624	0.65661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2233.98	37	chr6	27311928	.	C	T	2233.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.073e+00;DP=1264;ExcessHet=0.0000;FS=0.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=-1.222e+00;SOR=0.768	GT:AD:DP:GQ:PL	0/1:86,85:171:99:2248,0,2380	20	0	1	0
chr6	28287104	28287104	A	G	exonic	PGBD1	.	nonsynonymous SNV	PGBD1:NM_001184743:exon4:c.A578G:p.H193R	.	.	409	1094	18	1	0	20	0.00905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.171	B	0.03	B	.	.	1.000	N	0.55	N	5.06	T	-0.925	T	0.001	T	0.048	0.282	5.526	-5.31	-0.800	-1.664	0.878	0.025	0.00227787783254	0.0008	0.000399361	0.0006	0.0003	0.0003	0	0	0.0007	0.0022	0.0008	0.0006015	93	154602	rs148512859	0.0006	0.0006	0.0006	0.0006	0.0106	0.0006	0.0006	0.0085	0.0077	0.0004	0.0006	0.0002	0	0	0.0106	0.0007	0.0008	0.0005	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0005	0.0005	0.0002	0	0.0007	0	0	0	0.0102	0.0007	0.0028	0.0008	0.355	0.12109	T	0.349	0.17531	T	0.171	0.28729	B	0.03	0.21741	B	.	.	.	.	1	0.08975	N	1.24	0.30952	L	5.06	0.01260	T	-0.48	0.15379	N	0.073	0.04668	-0.9251	0.44844	T	0.001	0.00287	T	9	0.010882914	0.00240	T	0.002278	0.04369	T	0.025	0.05312	.	.	0.225902525712	0.22197	0.21846926799487926	0.21762	.	.	0.36818510294	0.20571	T	0.001684	0.01111	T	-0.6557	0.00067	T	-0.792632	0.02093	T	0.00539495298113635	0.00058	T	0.39586	0.09952	T	0.020562895	0.00619	0.034223743	0.02451	0.020562895	0.00619	0.034223743	0.02450	-3.34	0.14259	T	.	.	0.066	0.02228	B	.	.	-0.350745	0.02404	0.268	0.61767355836450288	0.06792	0.01150	0.04159	N	AEFGBI	0.023257	0.01272	N	-1.17160867607647	0.05434	0.2476974	-1.24760222737288	0.05166	0.2455314	0.0583885366125283	0.15125	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.32	-5.31	0.02519	-1.565000	0.02254	-0.815000	0.07319	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.606000	0.31539	0.1504:0.3003:0.2506:0.2987	0.878	0.01149	516	0.74704	.	.	.	.	.	.	Uncertain significance	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	2368.98	34	chr6	28287104	.	A	G	2368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.610e+00;DP=968;ExcessHet=0.0000;FS=1.600;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=-1.213e+00;SOR=0.568	GT:AD:DP:GQ:PL	0/1:134,107:241:99:2383,0,3425	20	0	1	0
chr6	28435078	28435078	T	A	exonic	ZSCAN23	.	nonsynonymous SNV	ZSCAN23:NM_001012455:exon4:c.A557T:p.D186V,	.	.	437	1070	13	2	0	17	0.00788132	0.0035	0.198	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.001	B	0.003	B	0.143	N	0.974	D	1.845	L	3.39	T	-0.965	T	0.006	T	0.197	1.867	12.20	0.477	-0.075	-0.213	2.591	0.055	.	.	.	0.0002	0.0006	0	0	0	0	0.0062	0.0002	2.59e-05	4	154602	rs768184339	7.44e-05	7.388e-05	7.312e-05	7.572e-05	0.0034	6.234e-05	5.818e-05	0.0023	0.0019	3.318e-05	0.0006	0.0002	0	0	0.0034	4.225e-05	0.0002	5.244e-05	0.0001	0.0001	8.997e-05	0.0001	0.0005	7.09e-05	5.747e-05	0.0002	0.0002	7.223e-05	0	0.0005	0	0	0	0.0034	5.881e-05	0.0009	0	0.218	0.19090	T	0.128	0.34959	T	0.001	0.07471	B	0.003	0.08700	B	0.143230	0.18217	N	0.409734	0.973669	0.39042	D	2.35	0.67516	M	3.39	0.05710	T	-4.83	0.80943	D	0.21	0.23380	-0.9651	0.38191	T	0.006	0.01981	T	10	0.052782416	0.05365	T	0.002135	0.03962	T	0.055	0.15663	.	.	0.329020015101	0.32502	0.25952741445275024	0.25866	0.380450103368	0.39413	0.246379107237	0.03396	T	0.098056	0.40149	T	-0.507394	0.00519	T	-0.619441	0.11229	T	0.179459199309349	0.19201	T	0.573543	0.20534	T	0.17597505	0.38486	0.12403049	0.29902	0.17597505	0.38486	0.12403049	0.29901	-4.018	0.24072	T	.	.	0.235	0.46802	B	.	.	1.409454	0.18245	13.63	0.90017490177584891	0.19307	0.08993	0.14835	N	AEFBI	0.120583	0.23484	N	-0.714267508158868	0.15620	0.788786	-0.716350446275307	0.16553	0.8762617	0.0045899190490222	0.10627	0.651	0.46895	0	0.588066	0.40923	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	4.37	0.477	0.15995	-0.401000	0.07293	-0.376000	0.09574	0.665000	0.62972	0.013000	0.18845	0.006000	0.19429	0.985000	0.61073	0.2137:0.2387:0.0:0.5476	2.591	0.04548	624	0.65661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	478.98	37	chr6	28435078	.	T	A	478.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.190e+00;DP=609;ExcessHet=0.0000;FS=1.744;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.52;ReadPosRankSum=-4.880e-01;SOR=1.179	GT:AD:DP:GQ:PL	0/1:12,17:29:99:493,0,325	20	0	1	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|1:29,77,0:106:99:1|0:29942923_G_T:3146,0,966,3233,1197,4431:29942923	3	4	8	2
chr6	29943542	29943542	G	0	exonic	HLA-A	.	.	.	.	.	2	437	1008	1	74	1084	0.536093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	6146.8	107	chr6	29943542	.	G	T,*	6146.8	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=-1.114e+00;DP=2095;ExcessHet=14.4320;FS=2.349;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=58.53;MQRankSum=-3.892e+00;QD=4.14;ReadPosRankSum=1.73;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,18,0:119:99:.:.:409,0,2931,712,2985,3697	6	0	13	1
chr6	31030100	31030100	G	C	exonic	MUC22	.	nonsynonymous SNV	MUC22:NM_001198815:exon3:c.G4669C:p.G1557R	.	.	428	1075	17	2	0	21	0.00967296	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00898562	0.0465	0	0	0	.	0	0	0.0688	0.0022962	355	154602	rs139063656	0.0025	0.0024	0.0014	0.0036	0.0363	0.0024	0.0024	0.0352	0.0348	0.0004	0.0002	0	0.0017	3.034e-05	0.0014	0.0002	0.0045	0.0363	0.0015	0.0015	0.0011	0.0019	0.0359	0.0014	0.0013	0.0315	0.0298	0.0003	0	6.538e-05	0	0.0058	0	0	0.0001	0.0024	0.0359	0.0	0.91255	D	0.028	0.54934	D	.	.	.	.	.	.	.	.	.	.	0.999765	0.20447	N	0	0.06538	N	2.6	0.13204	T	-1.98	0.45769	N	0.465	0.50146	.	.	.	.	.	.	.	0.003114134	0.00052	T	0.09559	0.76455	D	.	.	.	.	.	.	0.07561457441458025	0.07497	.	.	0.258027583361	0.04659	T	0.006331	0.05765	T	-0.593922	0.00159	T	-0.595918	0.13157	T	.	.	.	0.627137	0.24302	T	0.16990691	0.37535	0.26022822	0.51784	0.16990691	0.37535	0.26022822	0.51783	-4.586	0.31995	T	.	.	0.235	0.46881	B	.	.	3.479478	0.48577	22.6	0.9611619590714322	0.28760	0.24204	0.22320	N	AEFGBI	0.053735	0.09709	N	.	.	.	.	.	.	0.00346480110881711	0.10129	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.39	1.5	0.22029	0.291000	0.18748	.	.	0.611000	0.49015	0.006000	0.17386	1.000000	0.68203	0.060000	0.15972	0.1863:0.0:0.8137:0.0	4.702	0.12213	929	0.16858	.	.	.	.	.	.	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	3154.98	44	chr6	31030100	.	G	C	3154.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.161e+00;DP=1148;ExcessHet=0.0000;FS=0.462;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=-1.050e-01;SOR=0.737	GT:AD:DP:GQ:PL	0/1:138,139:277:99:3169,0,3677	20	0	1	0
chr6	31269983	31269983	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G998A:p.C333Y	.	.	28	1411	77	6	0	89	0.0305737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.994	D	0.962	U	1.000	N	1.085	L	5.73	T	-0.822	T	0.003	T	0.539	0.828	8.338	1.86	0.718	-0.775	4.945	0.118	.	.	0.023762	0.0107	0.0581	0.0088	0.0010	0.0033	0.0074	0.0108	0.0041	0.005302	138	26028	rs1143551	3.892e-05	0.0019	3.328e-05	4.473e-05	0.0018	2.76e-05	2.395e-05	0.0012	0.0010	0.0003	0	0	0.0018	0	0	7.971e-06	0	2.755e-05	1.559e-05	0.0046	2.983e-05	0	7.996e-05	0	0	.	.	7.996e-05	0	0	0	0	0	0	0	0	0	0.008	0.58626	D	0.442	0.13252	T	0.995	0.67487	D	0.994	0.82059	D	0.961562	0.07721	U	1.025580	1	0.08975	N	.	.	.	5.73	0.00734	T	0.65	0.03297	N	0.057	0.02861	-0.8215	0.53840	T	0.003	0.00864	T	10	0.003534168	0.00063	T	.	.	.	0.118	0.32913	.	.	.	.	0.10940588369650811	0.10869	1.83665520473	0.92112	0.236690431833	0.02500	T	0.006219	0.05657	T	-0.539837	0.00336	T	-0.495566	0.22809	T	0.025896967573812	0.01391	T	0.125887	0.05243	T	.	.	.	.	.	.	.	.	-4.931	0.36082	T	.	.	0.069	0.05491	B	.;.;.	.;.;.	2.340305	0.29987	18.30	0.88826057933371938	0.18286	0.03000	0.07863	N	AEFDBHCI	0.080062	0.16180	N	-0.340673899973216	0.27617	1.51662	-0.569206718883037	0.20298	1.092952	0.999999382160841	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.76	1.86	0.24489	-1.132000	0.03346	.	.	-0.419000	0.05236	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.8191:0.0:0.1809	4.945	0.13338	934	0.15400	.;.;.	.	.	.	.	rs147538248	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.09524	11076.9	99	chr6	31269983	.	C	T	11076.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.051;DP=2814;ExcessHet=0.0082;FS=1.816;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=57.08;MQRankSum=-5.656e+00;QD=26.44;ReadPosRankSum=0.340;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,83:162:99:0|1:31269983_C_T:3247,0,3047:31269983	18	1	2	0
chr6	31269984	31269984	A	G	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.T997C:p.C333R	.	.	28	1411	77	6	0	89	0.0305737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.994	D	0.962	U	1.000	N	0.74	N	5.72	T	-0.856	T	0.002	T	0.428	0.844	8.410	-2.0	-0.355	-0.711	6.411	0.100	.	.	0.0223642	0.0105	0.0576	0.0087	0.0001	0.0033	0.0073	0.0108	0.0041	0.005033	131	26028	rs41560617	1.038e-05	0.0019	1.28e-05	7.893e-06	0.0003	4.46e-06	3.23e-06	6.847e-05	3.638e-05	0.0003	0	0	0	0	0	6.376e-06	0	2.755e-05	1.569e-05	0.0046	3.001e-05	0	8.044e-05	0	0	.	.	8.044e-05	0	0	0	0	0	0	0	0	0	0.007	0.72154	D	0.273	0.22154	T	0.995	0.67487	D	0.994	0.82059	D	0.961562	0.07721	U	1.025580	1	0.08975	N	.	.	.	5.71	0.00734	T	-1.34	0.33401	N	0.105	0.08925	-0.8562	0.51534	T	0.002	0.00707	T	10	0.0034644306	0.00061	T	.	.	.	0.100	0.28662	.	.	.	.	0.19501021438939248	0.19419	1.88329240083	0.92632	0.232454329729	0.02155	T	0.035636	0.23797	T	-0.554439	0.00274	T	-0.515736	0.20728	T	0.0335258512546306	0.02558	T	0.185981	0.08182	T	.	.	.	.	.	.	.	.	-3.564	0.17338	T	.	.	0.097	0.21877	B	.;.;.	.;.;.	1.353108	0.17613	13.27	0.82700432174482796	0.14329	0.01625	0.05246	N	AEFDBHCI	0.078806	0.15908	N	-0.559233629742458	0.20195	1.062845	-0.820899333920841	0.13990	0.7286657	0.999999254125092	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.76	-2.0	0.07024	-0.417000	0.07153	.	.	-1.050000	0.01643	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3421:0.0:0.0:0.6579	6.411	0.20895	934	0.15400	.;.;.	.	.	.	.	rs140243942	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.09524	11073.9	99	chr6	31269984	.	A	G	11073.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.996;DP=2810;ExcessHet=0.0082;FS=1.816;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=57.05;MQRankSum=-5.656e+00;QD=26.37;ReadPosRankSum=0.175;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,83:162:99:0|1:31269983_C_T:3247,0,3047:31269983	18	1	2	0
chr6	31269985	31269985	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G996A:p.M332I	.	.	28	1411	77	6	0	89	0.0305737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	0.428	U	1.000	N	0.79	N	5.85	T	-0.941	T	0.001	T	0.443	-0.393	2.159	-5.53	-2.085	-0.612	4.091	0.109	.	.	0.023762	0.0106	0.0578	0.0087	0.0001	0.0033	0.0074	0.0108	0.0041	0.005302	138	26028	rs41540416	1.038e-05	0.0019	1.28e-05	7.893e-06	0.0003	4.46e-06	3.23e-06	6.83e-05	3.634e-05	0.0003	0	0	0	0	0	6.376e-06	0	2.755e-05	1.558e-05	0.0046	2.982e-05	0	7.991e-05	0	0	.	.	7.991e-05	0	0	0	0	0	0	0	0	0	0.03	0.53172	D	0.274	0.22084	T	0.0	0.02946	B	0.001	0.04355	B	0.427676	0.12789	U	0.657459	1	0.08975	N	.	.	.	5.85	0.00662	T	-0.81	0.22294	N	0.035	0.01004	-0.9409	0.42473	T	0.001	0.00222	T	10	0.010112762	0.00226	T	.	.	.	0.109	0.30843	0.333	0.32005	.	.	0.09930668900732408	0.09861	0.548098038175	0.51770	0.312004953623	0.12210	T	0.014848	0.12562	T	-0.586337	0.00176	T	-0.562359	0.16155	T	2.40141039539106e-05	0.00000	T	0.739226	0.35772	T	.	.	.	.	.	.	.	.	-5.08	0.37696	T	.	.	0.159	0.39442	B	.;.;.	.;.;.	0.799758	0.11705	8.284	0.55643753892962067	0.05385	0.03006	0.07873	N	AEFDBHCI	0.063853	0.12364	N	-1.53604031898597	0.01618	0.07072133	-1.66313067783111	0.01309	0.05907979	0.999999998335067	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.76	-5.53	0.02351	-0.595000	0.05822	.	.	0.447000	0.21209	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.11:0.5672:0.1517:0.1711	4.091	0.09446	934	0.15400	.;.;.	.	.	.	.	rs145653234	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.09524	11075.9	99	chr6	31269985	.	C	T	11075.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-7.790e-01;DP=2803;ExcessHet=0.0082;FS=1.816;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=57.00;MQRankSum=-5.656e+00;QD=26.37;ReadPosRankSum=0.165;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,83:162:99:0|1:31269983_C_T:3247,0,3047:31269983	18	1	2	0
chr6	31270037	31270037	-	GGACAGCCAGGACAGCTG	exonic	HLA-C	.	nonframeshift insertion	HLA-C:NM_001243042:exon5:c.943_944insCAGCTGTCCTGGCTGTCC:p.G314_L315insPAVLAV	.	.	12	1426	78	6	0	90	0.0305914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0083	0.0444	0.0068	0	0.0023	0.0058	0.0116	0.0031	0.0006916	18	26028	rs148706212	1.686e-05	0.0015	1.28e-05	2.105e-05	0.0003	9.41e-06	7.25e-06	0.0001	6.813e-05	0.0003	0	0	0	7.638e-05	0	7.971e-06	0	5.504e-05	1.542e-05	0.0032	2.954e-05	0	7.854e-05	0	0	.	.	7.854e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	10602.86	112	chr6	31270037	.	A	AGGACAGCCAGGACAGCTG	10602.86	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.41;DP=2922;ExcessHet=0.0082;FS=1.277;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=57.91;MQRankSum=-5.782e+00;QD=27.61;ReadPosRankSum=0.098;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,68:131:99:0|1:31270037_A_AGGACAGCCAGGACAGCTG:2646,0,2361:31270037	18	1	2	0
chr6	31270044	31270044	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G937T:p.A313S	.	.	8	1430	78	6	0	90	0.0305085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.989	D	0.131	U	1.000	N	2.365	M	5.58	T	-0.947	T	0.005	T	0.451	0.465	6.526	1.75	0.672	1.069	7.416	0.083	.	.	0.0209665	0.0084	0.0454	0.0069	0	0.0026	0.0058	0.0093	0.0031	0.0047641	124	26028	rs41545712	2.854e-05	0.0015	2.303e-05	3.42e-05	0.0005	1.868e-05	1.595e-05	0.0002	0.0001	0.0005	0.0002	0	0	0	0	1.116e-05	0	0.0002	0	0.0034	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.014	0.53172	D	0.029	0.54541	D	0.996	0.68779	D	0.989	0.78396	D	0.131306	0.18627	U	0.374715	1	0.08975	N	.	.	.	5.57	0.00853	T	-1.44	0.35991	N	0.144	0.14763	-0.9472	0.41448	T	0.005	0.01833	T	10	0.0030748248	0.00051	T	.	.	.	0.083	0.24192	.	.	0.269111216191	0.26524	0.1421143076834137	0.14134	1.33609069953	0.83747	0.211957156658	0.00897	T	0.028319	0.20539	T	-0.492036	0.00633	T	-0.426902	0.30286	T	0.0487267516968755	0.05274	T	0.611339	0.23205	T	.	.	.	.	.	.	.	.	-8.281	0.62969	D	.	.	0.131	0.31633	B	.;.;.	.;.;.	2.795962	0.36766	20.3	0.47016589134919956	0.03811	0.09575	0.15300	N	AEFBHCI	0.067665	0.13312	N	-0.316326039818362	0.28527	1.574243	-0.572322111535915	0.20216	1.088159	0.999995248611718	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	1.75	0.23707	0.708000	0.25393	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.7284:0.2716:0.0	7.416	0.26217	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.09524	9279.9	112	chr6	31270044	.	C	A	9279.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.835;DP=2882;ExcessHet=0.0082;FS=1.783;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=58.14;MQRankSum=-5.502e+00;QD=25.64;ReadPosRankSum=0.594;SOR=0.801	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,62:129:99:0|1:31270037_A_AGGACAGCCAGGACAGCTG:2402,0,2594:31270037	18	1	2	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	1/2:0,66,62:128:99:.:.:4226,2573,2376,1836,0,2753	0	13	5	0
chr6	31270058	31270058	A	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.T923A:p.I308N	.	.	12	1426	78	6	0	90	0.0305914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.009	B	0.016	B	.	.	1.000	N	1.98	M	5.57	T	-0.921	T	0.001	T	0.393	-0.097	3.526	-3.55	-0.726	-0.084	0.327	0.099	.	.	0.0177716	0.0074	0.0413	0.0064	0	0.0023	0.0048	0.0094	0.0028	0.0067399	1042	154602	rs1065600	2.596e-05	0.0015	1.792e-05	3.422e-05	0.0005	1.695e-05	1.377e-05	0.0002	0.0001	0.0005	0.0001	0	0	0	0	1.116e-05	0	0.0001	3.11e-05	0.0036	2.984e-05	3.246e-05	8.032e-05	5.16e-06	1.93e-06	.	.	8.032e-05	0	0	0	0	0	0	2.806e-05	0	0	0.018	0.50676	D	0.115	0.36901	T	0.009	0.15093	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	.	.	.	5.57	0.00885	T	-2.98	0.63901	D	0.388	0.43126	-0.9207	0.45458	T	0.001	0.00408	T	9	0.0062720776	0.00141	T	.	.	.	0.099	0.28413	.	.	0.218845423259	0.21516	0.2566185313009967	0.25575	0.884575161911	0.69923	0.31632065773	0.12863	T	0.076917	0.35532	T	-0.5501	0.00291	T	-0.510308	0.21283	T	0.0162875932992256	0.00399	T	0.744226	0.36418	T	.	.	.	.	.	.	.	.	-11.318	0.81373	D	.	.	0.165	0.37063	B	.;.;.	.;.;.	1.685546	0.21476	15.22	0.38430128270477487	0.02591	0.04413	0.10003	N	AEFBHCI	0.090071	0.18254	N	-1.08415255846282	0.06935	0.3206675	-1.2503667729414	0.05126	0.2434891	0.999998478398119	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	-3.55	0.04343	-0.480000	0.06639	.	.	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.332:0.2018:0.2683:0.1978	0.327	0.00290	934	0.15400	.;.;.	.	.	.	.	rs182216723	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.09524	8989.9	96	chr6	31270058	.	A	T	8989.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=3.96;DP=2562;ExcessHet=0.0082;FS=0.397;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=58.57;MQRankSum=-4.898e+00;QD=25.40;ReadPosRankSum=2.01;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,62:130:99:0|1:31270037_A_AGGACAGCCAGGACAGCTG:2376,0,2669:31270037	18	1	2	0
chr6	31271082	31271082	G	C	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.C610G:p.Q204E	.	.	0	1440	82	0	0	82	0.027684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.002	B	0.066	U	0.993	N	1.595	L	9.55	T	-0.919	T	0.000	T	0.506	0.737	7.911	1.64	0.606	1.230	5.117	0.040	0.00176875394672	.	.	0.0012	0.0025	0.0003	0	0.0008	0.0012	0	0.0018	0.0011449	177	154602	rs796429498	0.0002	0.0006	0.0001	0.0002	0.0007	0.0001	0.0001	0.0003	0.0003	0.0006	0.0003	0.0005	0	0	0.0007	0.0001	0.0002	0.0001	1.508e-05	0.0004	0	3.15e-05	7.378e-05	0	0	.	.	7.378e-05	0	0	0	0	0	0	0	0	0	0.012	0.63226	D	0.137	0.33894	T	0.0	0.02946	B	0.002	0.06944	B	0.065850	0.02193	U	2.663580	0.995838	0.23771	N	.	.	.	9.55	0.00007	T	-1.96	0.46503	N	0.037	0.01498	-0.9192	0.45662	T	0.000	0.00039	T	10	0.03142172	0.01277	T	0.001769	0.03012	T	0.198	0.48105	.	.	0.264547087235	0.26054	0.06743973031026444	0.06681	0.534207440331	0.50835	0.27684956789	0.07057	T	0.037706	0.24575	T	-0.155279	0.27488	T	-0.460824	0.26509	T	0.0457982197301059	0.04748	T	0.158184	0.01407	T	.	.	.	.	.	.	.	.	-11.787	0.83797	D	.	.	0.098	0.16275	B	.;.;.	.;.;.	1.963241	0.24940	16.58	0.64928230975864176	0.07629	0.20245	0.20969	N	AEFBHCI	0.099613	0.20048	N	-0.567676259610921	0.19933	1.047056	-0.569709590382082	0.20285	1.092179	0.999994312471089	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.55	1.64	0.22949	0.047000	0.13941	.	.	0.594000	0.32500	0.047000	0.21291	0.000000	0.08366	0.076000	0.17014	0.0:0.2329:0.529:0.2381	5.117	0.14173	934	0.15400	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2141.92	147	chr6	31271082	.	G	C	2141.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.130e-01;DP=2900;ExcessHet=0.6776;FS=5.478;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=55.53;MQRankSum=-7.176e+00;QD=3.37;ReadPosRankSum=-2.537e+00;SOR=1.313	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,14:150:99:0|1:31271082_G_C:179,0,5606:31271082	17	0	4	0
chr6	31271089	31271089	C	G	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G603C:p.E201D	.	.	0	1433	89	0	0	89	0.0301184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.002	B	0.463	N	0.999	N	-2.35	N	5.65	T	-0.906	T	0.000	T	0.535	0.967	8.944	0.453	0.101	-3.936	10.048	0.026	0.00327990498179	.	.	0.0012	0.0025	0.0003	0	0.0008	0.0012	0	0.0018	0.0011319	175	154602	rs17413678	0.0001	0.0006	0.0001	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	0.0007	0.0002	0.0005	0	3.395e-05	0.0003	0.0001	7.186e-05	0.0001	1.497e-05	0.0004	0	3.125e-05	7.252e-05	0	0	.	.	7.252e-05	0	0	0	0	0	0	0	0	0	0.014	0.59928	D	0.214	0.26549	T	0.0	0.02946	B	0.001	0.06944	B	0.463348	0.04883	N	1.613380	0.999565	0.21423	N	.	.	.	5.65	0.00784	T	-1.57	0.38924	N	0.068	0.04072	-0.9059	0.47343	T	0.000	0.00114	T	10	0.017638266	0.00378	T	0.00328	0.07268	T	0.222	0.51872	0.525	0.62967	0.18995819373	0.18626	0.10834935616144864	0.10763	0.446550992324	0.44524	0.299512207508	0.10328	T	0.039277	0.25133	T	-0.20222	0.20483	T	-0.528252	0.19461	T	0.0309767665415865	0.02142	T	0.309269	0.05988	T	.	.	.	.	.	.	.	.	-5.958	0.45926	T	.	.	0.112	0.25166	B	.;.;.	.;.;.	1.120113	0.15057	11.55	0.64405259372860457	0.07484	0.02110	0.06246	N	AEFBHCI	0.074243	0.14875	N	-1.34702669488082	0.03156	0.1405097	-1.25390729222346	0.05073	0.2408863	0.999991424455028	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.55	0.453	0.15851	-2.693000	0.00901	.	.	-0.340000	0.05703	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.3625:0.6374:0.0	10.048	0.41370	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2332.92	147	chr6	31271089	.	C	G	2332.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.706;DP=2932;ExcessHet=0.6776;FS=5.226;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=55.19;MQRankSum=-6.869e+00;QD=3.53;ReadPosRankSum=-1.531e+00;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,17:158:99:0|1:31271082_G_C:246,0,5755:31271082	17	0	4	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|3:141,0,0,34:175:99:0|1:31271151_TCA_T:1003,1428,7348,1428,7348,7348,0,5921,5921,5818:31271151	0	0	16	0
chr6	31271193	31271193	T	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.A499T:p.T167S	.	.	1	1405	114	2	0	118	0.0403005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.026	B	0.041	B	0.140	U	1.000	N	1.745	L	5.52	T	-0.928	T	0.002	T	0.497	1.648	11.47	2.81	1.536	1.002	9.364	0.125	.	.	0.0335463	0.0171	0.0612	0.0102	0.0111	0.0070	0.0151	0.0148	0.0119	0.0013454	208	154602	rs142570222	0.0020	0.0089	0.0018	0.0022	0.0212	0.0019	0.0019	0.0195	0.0188	0.0212	0.0050	0.0157	0.0004	0.0009	0.0146	0.0010	0.0035	0.0035	0.0002	0.0092	0.0002	0.0003	0.0009	0.0001	0.0001	0.0005	0.0004	0.0009	0	0	0	0	0	0	8.097e-05	0	0	0.022	0.48642	D	0.207	0.27145	T	0.026	0.19406	B	0.041	0.23986	B	0.140159	0.18319	U	0.377560	1	0.08975	N	.	.	.	5.52	0.00903	T	-2.36	0.53577	N	0.201	0.22228	-0.9276	0.44487	T	0.002	0.00585	T	10	0.0053441823	0.00117	T	.	.	.	0.125	0.34456	0.712	0.84781	.	.	0.21857788014369137	0.21773	0.461279298288	0.45672	0.424038767815	0.28393	T	0.069533	0.33733	T	-0.490069	0.00649	T	-0.465695	0.25983	T	0.0170237571897238	0.00451	T	0.0849915	0.00624	T	.	.	.	.	.	.	.	.	-6.826	0.52752	T	.	.	0.169	0.37083	B	.;.;.	.;.;.	1.512869	0.19433	14.26	0.6761150136827524	0.08406	0.24039	0.22268	N	AEFDGBHCI	0.169307	0.29613	N	-0.613024539942439	0.18552	0.9640867	-0.655505705163185	0.18078	0.9641463	0.999999998364993	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.81	2.81	0.31971	1.346000	0.33569	.	.	-0.845000	0.02763	0.968000	0.34134	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.0:1.0	9.364	0.37375	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	7388.68	177	chr6	31271193	.	T	A	7388.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.59;DP=3586;ExcessHet=0.3300;FS=1.106;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=49.38;MQRankSum=-2.164e+00;QD=13.29;ReadPosRankSum=-2.522e+00;SOR=0.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:87,82:169:99:.:.:2230,0,2805	18	0	3	0
chr6	31271337	31271337	G	0	exonic	HLA-C	.	.	.	.	.	86	537	715	64	120	963	0.43975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	17754.15	108	chr6	31271337	.	G	T,*	17754.15	.	AC=13,1;AF=0.310,0.024;AN=42;BaseQRankSum=-1.740e-01;DP=1928;ExcessHet=2.0984;FS=6.544;InbreedingCoeff=-0.0716;MLEAC=13,1;MLEAF=0.310,0.024;MQ=56.58;MQRankSum=-3.890e+00;QD=13.85;ReadPosRankSum=-1.971e+00;SOR=1.165	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,61,0:61:99:1|1:31271324_G_T:2740,184,0,2740,184,2740:31271324	9	2	9	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|1:0,125,0:125:99:1|1:31356168_A_C:5483,376,0,5483,376,5483:31356168	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	1/2:0,108,54:162:99:.:.:6332,2276,1939,4038,0,4403	1	0	12	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	9973.12	43	chr6	31356431	.	G	T,*	9973.12	.	AC=16,13;AF=0.381,0.310;AN=42;BaseQRankSum=1.15;DP=1007;ExcessHet=1.3217;FS=1.278;InbreedingCoeff=-0.0027;MLEAC=16,13;MLEAF=0.381,0.310;MQ=57.28;MQRankSum=-3.660e-01;QD=10.84;ReadPosRankSum=0.037;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:1,0,73:74:99:1|1:31356428_G_GCC:3240,3243,3285,178,220,0:31356428	2	3	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|1:2,100,0:102:99:1|1:31356739_C_A:4390,217,0,4396,301,4480:31356739	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	1|1:0,131,0:131:99:1|1:31356809_C_T:5854,394,0,5854,394,5854:31356809	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|1:36,38,0:74:99:0|1:31412383_TG_T:1116,0,1377,1224,1491,2715:31412383	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|2:0,36,38,0:74:99:1|0:31412383_TG_T:2990,1336,1407,1512,0,1377,2936,1451,1511,2998:31412383	2	2	2	0
chr6	31576785	31576785	C	T	exonic	TNF	.	nonsynonymous SNV	TNF:NM_000594:exon3:c.C251T:p.P84L,	.	.	0	1456	62	4	0	70	0.0234742	.	.	710405	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.007	B	0.003	B	0.084	N	1.000	N	0.95	L	-2.04	D	-0.929	T	0.211	T	0.037	1.661	11.51	0.019	0.135	-0.243	5.542	0.188	0.0119564785465	0.0019	0.000599042	0.0024	0.0003	0.0023	0.0001	0.0003	0.0028	0.0034	0.0041	0.0021345	330	154602	rs4645843	0.0018	0.0018	0.0017	0.0020	0.0184	0.0018	0.0018	0.0155	0.0145	0.0009	0.0029	0.0106	0	0.0002	0.0184	0.0014	0.0028	0.0045	0.0016	0.0016	0.0016	0.0016	0.0023	0.0015	0.0014	0.0017	0.0016	0.0003	0	0.0023	0.0109	0.0004	0.0002	0.0136	0.0020	0.0033	0.0021	0.145	0.25154	T	0.296	0.20615	T	0.007	0.14184	B	0.003	0.08700	B	0.084445	0.02389	N	1.798360	1	0.08975	N	1.25	0.31749	L	-2.04	0.85703	D	-0.66	0.19085	N	0.056	0.02759	-0.9293	0.44241	T	0.211	0.57067	T	10	0.0046066046	0.00096	T	0.011956	0.30096	T	0.188	0.46444	.	.	0.967945040658	0.96760	0.4098653570155833	0.40902	0.568028422092	0.53036	0.283045470715	0.07921	T	0.100786	0.40693	T	-0.488641	0.00661	T	-0.474409	0.25042	T	0.0327934610997307	0.02437	T	.	.	.	0.11627148	0.27428	0.08679749	0.20134	0.22171228	0.44754	0.104951486	0.25217	-3.833	0.21298	T	.	.	0.082	0.08754	B	.	.	1.914172	0.24313	16.35	0.91227581667590563	0.20484	0.04532	0.10164	N	AEFDBCI	0.061633	0.11797	N	-0.847107772778044	0.12121	0.588936	-0.844081313660175	0.13430	0.696636	0.999991238544582	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.62	0.019	0.13440	-0.178000	0.09775	.	.	0.592000	0.32167	0.000000	0.06391	0.000000	0.08366	0.982000	0.59238	0.535:0.364:0.0:0.101	5.542	0.16328	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2522.98	33	chr6	31576785	.	C	T	2522.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.567;DP=890;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=-7.500e-01;SOR=0.712	GT:AD:DP:GQ:PL	0/1:92,103:195:99:2537,0,2118	20	0	1	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|1:102,38:140:99:0|1:31625601_T_C:443,0,3037:31625601	0	0	19	2
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.817	P	0.292	B	0.000	D	0.999	D	1.295	L	4.62	T	-0.628	T	0.004	T	0.668	2.651	14.83	5.06	2.628	4.365	17.348	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12029.36	116	chr6	31625602	.	G	A,C	12029.36	.	AC=18,1;AF=0.474,0.026;AN=38;BaseQRankSum=-3.662e+00;DP=2814;ExcessHet=36.0830;FS=285.280;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.500,0.026;MQ=59.99;MQRankSum=0.00;QD=4.75;ReadPosRankSum=1.13;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,56,0:138:99:0|1:31625601_T_C:1100,0,2141,1335,2303,3638:31625601	0	0	18	2
chr6	31625602	31625602	G	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750C:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.817	P	0.292	B	0.000	D	0.999	D	1.295	L	4.62	T	-0.628	T	0.004	T	0.668	2.530	14.42	5.06	2.628	4.365	17.348	0.179	0.0240778972107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999345	0.46733	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.2299856	0.39939	T	0.024078	0.47063	T	0.179	0.44899	0.192	0.10304	0.187035705434	0.18338	0.40434127179304075	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.0346369	0.46741	T	-0.28753	0.46029	T	0.797656714916229	0.46194	D	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.164074	0.62562	24.5	0.98851704410504837	0.47305	0.96934	0.71741	D	AEFDBCI	0.644900	0.62099	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12029.36	116	chr6	31625602	.	G	A,C	12029.36	.	AC=18,1;AF=0.474,0.026;AN=38;BaseQRankSum=-3.662e+00;DP=2814;ExcessHet=36.0830;FS=285.280;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.500,0.026;MQ=59.99;MQRankSum=0.00;QD=4.75;ReadPosRankSum=1.13;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,56,0:138:99:0|1:31625601_T_C:1100,0,2141,1335,2303,3638:31625601	0	0	18	2
chr6	31679209	31679209	G	A	exonic	LY6G5C	.	nonsynonymous SNV	LY6G5C:NM_025262:exon2:c.C181T:p.R61C,	.	.	437	1018	66	1	0	68	0.0323194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.894	P	0.312	B	0.727	N	0.517	N	0.695	N	-2.24	D	-0.885	T	0.234	T	0.392	2.910	15.70	0.459	-0.037	0.580	4.467	0.360	.	0.0036	0.0227636	0.0169	0.0046	0.0068	0.0109	0	0.0020	0.0217	0.0987	0.0145664	2252	154602	rs145921744	0.0081	0.0081	0.0054	0.0107	0.0926	0.0079	0.0079	0.0909	0.0902	0.0063	0.0044	3.826e-05	0.0079	7.643e-05	0.0097	0.0019	0.0157	0.0926	0.0065	0.0065	0.0053	0.0076	0.0885	0.0061	0.0060	0.0816	0.0789	0.0051	0	0.0047	0	0.0168	0.0002	0.0034	0.0022	0.0147	0.0885	0.01	0.56456	D	0.02	0.58613	D	0.894	0.49185	P	0.312	0.41466	B	0.727062	0.09886	N	0.818192	0.516679	0.31863	D	1.445	0.36358	L	-2.24	0.87194	D	-2.76	0.58569	D	0.084	0.06059	-0.8846	0.49390	T	0.234	0.60063	T	10	0.0023189783	0.00034	T	.	.	.	0.360	0.68052	.	.	.	.	0.5892804808007955	0.58858	1.21905781881	0.81036	0.264205992222	0.05402	T	0.10245	0.41018	T	-0.347274	0.04900	T	-0.195046	0.55114	T	0.0382722174144337	0.03381	T	0.676832	0.28555	T	0.06356132	0.13397	0.04214743	0.04952	0.06356132	0.13397	0.04214743	0.04952	-9.13	0.68530	D	.	.	0.113	0.22428	B	.	.	3.510531	0.49159	22.7	0.99587674766532908	0.73395	0.44099	0.27244	N	AEFBI	0.135247	0.25552	N	-0.330590158614823	0.27992	1.540278	-0.33022311357452	0.27128	1.503155	0.981238292143273	0.30236	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	3.46	0.459	0.15890	0.600000	0.23803	.	.	-0.105000	0.15698	0.999000	0.42656	0.955000	0.29136	0.971000	0.54645	0.1148:0.0:0.4773:0.4079	4.467	0.11114	895	0.25842	.	.	.	.	.	rs145921744	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3832.11	36	chr6	31679209	.	G	A	3832.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.37;DP=971;ExcessHet=0.1072;FS=4.765;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=0.609;SOR=0.982	GT:AD:DP:GQ:PL	0/1:72,74:146:99:1866,0,1731	19	0	2	0
chr6	31765767	31765767	G	A	exonic	VWA7	.	nonsynonymous SNV	VWA7:NM_025258:exon17:c.C2503T:p.R835W,	.	.	428	1041	52	1	0	54	0.0252809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.688	P	0.036	B	0.372	N	1.000	N	0.345	N	2.66	T	-0.941	T	0.007	T	0.141	2.500	14.32	1.82	0.237	0.316	10.977	0.060	.	0.0015	0.0209665	0.0146	0.0027	0.0019	0.0123	0	0.0010	0.0268	0.1120	0.0121344	1876	154602	rs28399997	0.0068	0.0069	0.0044	0.0092	0.0853	0.0067	0.0066	0.0836	0.0830	0.0019	0.0018	0	0.0075	7.829e-05	0.0075	0.0012	0.0156	0.0853	0.0046	0.0046	0.0039	0.0054	0.0820	0.0043	0.0042	0.0753	0.0727	0.0020	0	0.0025	0	0.0151	9.414e-05	0	0.0012	0.0128	0.0820	0.023	0.48186	D	0.021	0.58089	D	0.688	0.41582	P	0.036	0.22909	B	0.372373	0.04370	N	1.482110	1	0.08975	N	0	0.06538	N	2.66	0.12575	T	-0.7	0.19933	N	0.058	0.02964	-0.9414	0.42394	T	0.007	0.02518	T	10	0.0016879141	0.00021	T	.	.	.	0.108	0.30607	.	.	.	.	0.32778010401152163	0.32691	0.679698092416	0.59945	0.351189315319	0.18097	T	0.001842	0.01261	T	-0.654375	0.00068	T	-0.641561	0.09556	T	0.0175965136085105	0.00492	T	.	.	.	0.13188592	0.30727	0.0849881	0.19592	0.13188592	0.30727	0.0849881	0.19592	-5.029	0.37153	T	.	.	0.070	0.03443	B	.	.	3.391797	0.46967	22.4	0.98701022032391184	0.44910	0.33231	0.24778	N	AEFDBCI	0.294634	0.40496	N	-0.705706012100094	0.15861	0.8031031	-0.717490922813437	0.16525	0.8746093	0.999998793596396	0.74766	0.65757	0.49021	0	0.550933	0.16991	0	0.619478	0.44681	0	0.613276	0.41899	0	.	.	4.87	1.82	0.24209	0.359000	0.19970	.	.	0.672000	0.70159	0.982000	0.35529	0.971000	0.29754	0.021000	0.11733	0.0:0.0:0.4751:0.5249	10.977	0.46687	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2201.11	38	chr6	31765767	.	G	A	2201.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.53;DP=888;ExcessHet=0.1072;FS=0.500;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=0.513;SOR=0.734	GT:AD:DP:GQ:PL	0/1:80,54:134:99:1311,0,1990	19	0	2	0
chr6	32049366	32049366	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon28:c.G9661A:p.V3221M	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	1	1488	30	3	0	36	0.0119522	.	.	205747	Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency|See_cases|Ehlers-Danlos_syndrome|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839|.|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.985	D	0.271	N	1.000	N	2.89	M	0.07	T	-0.812	T	0.254	T	0.237	1.058	9.319	0.372	0.002	-0.274	7.848	0.123	.	0.0001	0.00938498	0.0066	0.0003	8.724e-05	0	0	0.0003	0.0114	0.0450	0.0054915	849	154602	rs367685759	0.0028	0.0028	0.0016	0.0040	0.0409	0.0027	0.0027	0.0397	0.0393	0.0003	0.0001	0	0	3.752e-05	0.0006	0.0002	0.0037	0.0409	0.0013	0.0013	0.0008	0.0018	0.0371	0.0011	0.0011	0.0327	0.0309	0.0001	0	6.532e-05	0	0.0002	0	0	0.0001	0.0019	0.0371	0.033	0.44358	D	0.002	0.83351	D	.	.	.	.	.	.	0.271158	0.15125	N	0.555604	1	0.08975	N	.	.	.	0.07	0.61677	T	-1.73	0.41046	N	0.348	0.38950	-0.8124	0.54405	T	0.254	0.62428	T	10	0.0027631521	0.00043	T	.	.	.	0.123	0.34020	.	.	0.151262610727	0.14761	.	.	.	.	0.364150553942	0.19989	T	0.043968	0.26670	T	-0.472749	0.00817	T	-0.418991	0.31191	T	0.0215907399484421	0.00864	T	0.690331	0.35372	T	0.048401345	0.08429	0.06284763	0.12361	0.05358507	0.10161	0.06284763	0.12361	-9.023	0.67845	D	0.1228257435483675	0.11820	0.127	0.39029	B	.;.;.;.	.;.;.;.	1.601611	0.20476	14.77	0.99134390003135475	0.53356	0.03645	0.08896	N	AEFBI	0.060561	0.11517	N	-0.402326046957099	0.25388	1.377764	-0.691234755726822	0.17179	0.9123039	0.990088793033711	0.32033	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.28	0.372	0.15405	-0.022000	0.12424	.	.	-1.838000	0.00583	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.5223:0.0:0.4777	7.848	0.28597	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1913.98	35	chr6	32049366	.	C	T	1913.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.439;DP=880;ExcessHet=0.0000;FS=1.955;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=0.454;SOR=0.592	GT:AD:DP:GQ:PL	0/1:84,77:161:99:1928,0,2111	20	0	1	0
chr6	32129698	32129698	T	C	exonic	FKBPL	.	nonsynonymous SNV	FKBPL:NM_022110:exon2:c.A83G:p.N28S,	.	.	0	1469	52	1	0	54	0.0180481	.	.	3220457	FKBPL-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.118	B	0.017	B	0.881	N	1.000	N	0.695	N	-1.33	T	-0.904	T	0.154	T	0.031	1.016	9.149	3.03	0.624	0.354	6.979	0.102	.	0.0034	0.0105831	0.0063	0.0065	0.0049	0.0301	0.0009	0.0027	0.0055	0.0116	0.0060219	931	154602	rs117160266	0.0043	0.0043	0.0042	0.0045	0.0147	0.0042	0.0042	0.0137	0.0133	0.0050	0.0056	0.0008	0.0147	0.0009	0.0075	0.0035	0.0044	0.0118	0.0045	0.0045	0.0045	0.0045	0.0176	0.0042	0.0041	0.0147	0.0136	0.0063	0.0044	0.0046	0.0003	0.0176	0.0006	0.0102	0.0027	0.0057	0.0108	0.146	0.25055	T	0.536	0.09897	T	0.118	0.26577	B	0.017	0.18140	B	0.881190	0.08754	N	0.940554	1	0.08975	N	1.04	0.26193	L	-1.33	0.79854	T	-0.45	0.14782	N	0.112	0.09914	-0.9037	0.47595	T	0.154	0.48516	T	10	0.003453523	0.00061	T	.	.	.	0.102	0.29158	.	.	0.964397502001	0.96401	0.12206054170897931	0.12133	0.343234087858	0.36255	0.339676707983	0.16389	T	0.001858	0.01270	T	-0.560478	0.00252	T	-0.557592	0.16603	T	0.00333949956713115	0.00035	T	0.476552	0.14308	T	0.03655549	0.04519	0.05028008	0.07861	0.03655549	0.04518	0.05028008	0.07861	-3.286	0.13558	T	.	.	0.098	0.16275	B	.	.	0.649570	0.10179	6.921	0.65107643235153789	0.07679	0.03055	0.07955	N	AEFGBHCI	0.070669	0.14039	N	-0.860103146306415	0.11801	0.5715824	-0.884630442497938	0.12457	0.6409084	0.999979226538229	0.50053	0.542737	0.22433	0	0.516746	0.08562	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	4.23	3.03	0.34070	0.352000	0.19851	.	.	0.665000	0.62972	0.001000	0.13787	0.003000	0.18671	0.472000	0.28386	0.202:0.0:0.0:0.798	6.979	0.23874	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1680.98	34	chr6	32129698	.	T	C	1680.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.693;DP=885;ExcessHet=0.0000;FS=1.283;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.28;ReadPosRankSum=-7.210e-01;SOR=0.586	GT:AD:DP:GQ:PL	0/1:82,67:149:99:1695,0,2149	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	2/4:0,0,20,0,21:41:99:1673,1691,1747,860,925,919,1691,1747,925,1747,831,840,0,840,768	0	1	4	0
chr6	32223893	32223893	-	AGCAGCAGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCTGCTGCT:p.L16_C17insLLL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	2/4:0,0,20,0,21:41:99:1673,1691,1747,860,925,919,1691,1747,925,1747,831,840,0,840,768	0	1	4	0
chr6	32223893	32223893	-	AGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCT:p.L16_C17insL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	2/4:0,0,20,0,21:41:99:1673,1691,1747,860,925,919,1691,1747,925,1747,831,840,0,840,768	0	1	4	0
chr6	32530183	32530185	CTT	0	exonic	HLA-DRB5	.	.	.	.	.	1	58	89	55	23	222	0.631746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14818.53	115	chr6	32530183	.	CTT	*,C	14818.53	.	AC=5,17;AF=0.119,0.405;AN=42;BaseQRankSum=2.59;DP=2163;ExcessHet=0.2144;FS=6.037;InbreedingCoeff=0.1918;MLEAC=5,18;MLEAF=0.119,0.429;MQ=53.28;MQRankSum=-6.845e+00;QD=10.59;ReadPosRankSum=-2.181e+00;SOR=1.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:129,0,21:150:99:.:.:515,894,6297,0,5406,5341	6	1	2	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	37739.64	115	chr6	32530184	.	T	G,*,A	37739.64	.	AC=12,22,3;AF=0.286,0.524,0.071;AN=42;BaseQRankSum=-6.320e-01;DP=2340;ExcessHet=1.1607;FS=2.132;InbreedingCoeff=-0.1351;MLEAC=12,23,2;MLEAF=0.286,0.548,0.048;MQ=55.50;MQRankSum=0.00;QD=16.93;ReadPosRankSum=1.02;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:129,0,21,0:150:99:0|1:32530184_T_*:515,882,6284,0,5403,5341,894,6287,5406,6297:32530184	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|2:129,0,21,0:150:99:0|1:32530184_T_*:515,894,6297,0,5406,5341,894,6297,5406,6297:32530184	0	1	0	0
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	28452.78	197	chr6	32584171	.	G	*,T,A	28452.78	.	AC=8,10,1;AF=0.200,0.250,0.025;AN=40;BaseQRankSum=-1.190e-01;DP=4168;ExcessHet=6.7470;FS=3.321;InbreedingCoeff=-0.2727;MLEAC=8,10,1;MLEAF=0.200,0.250,0.025;MQ=53.84;MQRankSum=-1.211e+00;QD=8.51;ReadPosRankSum=1.10;SOR=0.481	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:198,145,0,0:343:99:0|1:32584162_G_T:5443,0,7872,6039,8309,14347,6039,8309,14347,14347:32584162	4	0	6	1
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	39726.1	222	chr6	32584177	.	CG	C,*	39726.1	.	AC=8,13;AF=0.190,0.310;AN=42;BaseQRankSum=2.29;DP=4443;ExcessHet=11.2363;FS=1.783;InbreedingCoeff=-0.4286;MLEAC=8,13;MLEAF=0.190,0.310;MQ=53.58;MQRankSum=-2.856e+00;QD=10.49;ReadPosRankSum=-6.830e-01;SOR=0.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:205,140,0:345:99:0|1:32584162_G_T:5261,0,8186,5879,8608,14486:32584162	3	0	6	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	19514.62	219	chr6	32584178	.	G	GCT,*	19514.62	.	AC=5,20;AF=0.119,0.476;AN=42;BaseQRankSum=-6.100e-02;DP=4440;ExcessHet=2.4516;FS=0.559;InbreedingCoeff=-0.0871;MLEAC=5,20;MLEAF=0.119,0.476;MQ=50.67;MQRankSum=1.24;QD=5.44;ReadPosRankSum=2.19;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:205,0,140:345:99:0|1:32584162_G_T:5261,5879,14486,0,8608,8186:32584162	3	0	1	0
chr6	32584353	32584353	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-1G>0	.	.	.	.	171	315	497	500	39	1536	0.703808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	182961.39	194	chr6	32584353	.	C	A,*	182961.39	.	AC=26,3;AF=0.650,0.075;AN=40;BaseQRankSum=2.52;DP=6556;ExcessHet=2.5338;FS=2.208;InbreedingCoeff=-0.0889;MLEAC=27,3;MLEAF=0.675,0.075;MQ=54.10;MQRankSum=-6.249e+00;QD=32.11;ReadPosRankSum=2.64;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:282,235,0:517:99:0|1:32584353_C_A:8992,0,11113,9841,11821,21662:32584353	1	9	7	1
chr6	32584354	32584354	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-2G>0	.	.	.	.	175	338	454	378	177	1387	0.641569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	154460.88	195	chr6	32584354	.	C	G,A,*	154460.88	.	AC=18,5,1;AF=0.474,0.132,0.026;AN=38;BaseQRankSum=-2.830e-01;DP=6461;ExcessHet=1.8260;FS=3.068;InbreedingCoeff=-0.0814;MLEAC=19,5,1;MLEAF=0.500,0.132,0.026;MQ=53.66;MQRankSum=4.10;QD=29.69;ReadPosRankSum=-9.790e-01;SOR=1.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:283,235,0,0:518:99:0|1:32584353_C_A:8989,0,11155,9841,11862,21704,9841,11862,21704,21704:32584353	2	4	8	2
chr6	32584357	32584357	T	0	exonic	HLA-DRB1	.	.	.	.	.	88	536	775	35	88	933	0.440793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	58783.46	171	chr6	32584357	.	T	G,*	58783.46	.	AC=12,2;AF=0.300,0.050;AN=40;BaseQRankSum=-3.436e+00;DP=5785;ExcessHet=6.1794;FS=7.618;InbreedingCoeff=-0.3166;MLEAC=12,2;MLEAF=0.300,0.050;MQ=54.27;MQRankSum=1.64;QD=13.90;ReadPosRankSum=-3.470e-01;SOR=1.239	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:459,51,0:510:99:0|1:32584357_T_G:713,0,19115,2095,19269,21364:32584357	7	0	12	1
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	77795.68	157	chr6	32584370	.	G	*,A	77795.68	.	AC=12,17;AF=0.316,0.447;AN=38;BaseQRankSum=3.82;DP=5453;ExcessHet=0.1204;FS=4.284;InbreedingCoeff=0.3021;MLEAC=13,18;MLEAF=0.342,0.474;MQ=52.94;MQRankSum=-1.218e+01;QD=17.06;ReadPosRankSum=-1.291e+00;SOR=1.063	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:262,38,166:466:99:0|1:32584366_C_T:6350,5373,16246,0,9394,10490:32584366	2	0	3	2
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12898.36	213	chr6	32641444	.	G	C,*	12898.36	.	AC=10,14;AF=0.238,0.333;AN=42;BaseQRankSum=3.77;DP=4027;ExcessHet=1.2156;FS=8.630;InbreedingCoeff=0.0278;MLEAC=10,14;MLEAF=0.238,0.333;MQ=56.94;MQRankSum=-9.014e+00;QD=4.08;ReadPosRankSum=-2.282e+00;SOR=0.880	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:208,0,70:278:99:0|1:32641430_C_T:2313,2939,11673,0,8734,8523:32641430	4	2	3	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12919.36	215	chr6	32641445	.	A	*,T	12919.36	.	AC=14,10;AF=0.333,0.238;AN=42;BaseQRankSum=3.40;DP=4033;ExcessHet=1.2156;FS=8.537;InbreedingCoeff=0.0278;MLEAC=14,10;MLEAF=0.333,0.238;MQ=56.99;MQRankSum=-8.973e+00;QD=4.08;ReadPosRankSum=-2.307e+00;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:208,70,0:278:99:0|1:32641430_C_T:2313,0,8523,2939,8734,11673:32641430	4	2	7	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10387.93	236	chr6	32641462	.	G	A,*	10387.93	.	AC=8,16;AF=0.190,0.381;AN=42;BaseQRankSum=5.43;DP=4198;ExcessHet=1.2156;FS=3.431;InbreedingCoeff=0.0278;MLEAC=8,16;MLEAF=0.190,0.381;MQ=57.72;MQRankSum=-9.839e+00;QD=3.14;ReadPosRankSum=-1.129e+00;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:227,0,66:293:99:0|1:32641430_C_T:2088,2772,12210,0,9439,9240:32641430	4	1	3	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10409.93	237	chr6	32641464	.	T	A,*	10409.93	.	AC=8,16;AF=0.190,0.381;AN=42;BaseQRankSum=3.55;DP=4202;ExcessHet=1.2156;FS=3.398;InbreedingCoeff=0.0278;MLEAC=8,16;MLEAF=0.190,0.381;MQ=57.80;MQRankSum=-9.745e+00;QD=3.15;ReadPosRankSum=-9.480e-01;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:227,0,66:293:99:0|1:32641430_C_T:2088,2772,12210,0,9439,9240:32641430	4	1	3	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	25415.33	297	chr6	32641501	.	G	C,*,A	25415.33	.	AC=10,13,1;AF=0.238,0.310,0.024;AN=42;BaseQRankSum=2.16;DP=4612;ExcessHet=1.2156;FS=0.551;InbreedingCoeff=0.0278;MLEAC=10,13,1;MLEAF=0.238,0.310,0.024;MQ=58.81;MQRankSum=-6.452e+00;QD=6.79;ReadPosRankSum=1.25;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:267,0,54,0:321:99:0|1:32641476_G_A:1464,2267,13479,0,11211,11049,2267,13479,11211,13479:32641476	4	2	3	0
chr6	32641522	32641522	A	G	exonic	HLA-DQA1	.	nonsynonymous SNV	HLA-DQA1:NM_002122:exon2:c.A295G:p.M99V,	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.001	B	0.002	B	0.417	U	1.000	N	0.695	N	5.87	T	-0.920	T	0.000	T	0.292	-0.760	0.789	-7.95	-6.444	-13.284	0.888	0.044	.	.	.	0.0057	0.0025	0.0088	0.0053	0.0084	0.0066	0.0016	0.0024	0.0058783	153	26028	rs1064944	4.039e-05	0.0068	3.94e-05	4.138e-05	0.0002	2.98e-05	2.601e-05	9.923e-05	6.79e-05	0	5.25e-05	0.0002	0.0002	0	0	3.331e-05	0.0001	0	0	0.0073	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.116	0.29688	T	0.158	0.31629	T	.	.	.	.	.	.	0.417235	0.04626	U	1.376450	1	0.08975	N	.	.	.	5.87	0.00635	T	-1.45	0.35792	N	0.057	0.05670	-0.9197	0.45594	T	0.000	0.00152	T	10	0.004614234	0.00096	T	.	.	.	0.044	0.11924	.	.	.	.	0.34569313513656585	0.34483	0.852731849783	0.68618	0.289853215218	0.08902	T	0.017806	0.14461	T	-0.715283	0.00030	T	-0.656411	0.08510	T	0.0132995924044953	0.00238	T	0.206079	0.02437	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25753	B	.;.;.;.	.;.;.;.	-4.065667	0.00001	0.001	0.34440312666605133	0.02107	0.00388	0.01954	N	AEFGBHCI	0.200916	0.32762	N	-2.37503005817049	0.00031	0.001328335	-2.55582823607075	0.00017	0.0007554368	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.97	-7.95	0.01015	-12.340000	0.00003	.	.	-5.452000	0.00010	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3982:0.2011:0.1237:0.2771	0.888	0.01170	940	0.13648	MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal	.	.	.	.	rs1064944	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	28752.87	324	chr6	32641522	.	A	C,G,*	28752.87	.	AC=3,8,13;AF=0.071,0.190,0.310;AN=42;BaseQRankSum=-1.647e+00;DP=4904;ExcessHet=1.2156;FS=1.149;InbreedingCoeff=0.0278;MLEAC=3,8,13;MLEAF=0.071,0.190,0.310;MQ=58.97;MQRankSum=-5.772e+00;QD=7.21;ReadPosRankSum=1.57;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:293,0,0,54:347:99:0|1:32641476_G_A:1283,2165,14407,2165,14407,14407,0,12242,12242,12080:32641476	4	0	1	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28752.87	324	chr6	32641522	.	A	C,G,*	28752.87	.	AC=3,8,13;AF=0.071,0.190,0.310;AN=42;BaseQRankSum=-1.647e+00;DP=4904;ExcessHet=1.2156;FS=1.149;InbreedingCoeff=0.0278;MLEAC=3,8,13;MLEAF=0.071,0.190,0.310;MQ=58.97;MQRankSum=-5.772e+00;QD=7.21;ReadPosRankSum=1.57;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:293,0,0,54:347:99:0|1:32641476_G_A:1283,2165,14407,2165,14407,14407,0,12242,12242,12080:32641476	4	0	1	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L	.	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.022	B	0.025	B	0.941	U	0.979	N	-0.55	N	7.87	T	-1.065	T	0.000	T	0.194	0.074	4.399	0.193	-0.489	0.016	5.435	0.088	.	.	.	0.0178	0.0094	0.0074	0.0044	0.0110	0.0123	0.0177	0.0613	0.0308211	4765	154602	rs1130380	0.0002	0.0028	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.946e-05	7.264e-05	8.514e-05	0	0.0002	0.0004	0.0001	0.0001	0.0006	6.32e-05	0.0064	1.542e-05	0.0001	6.948e-05	3.113e-05	2.259e-05	2.321e-05	1.392e-05	2.998e-05	0	0	0.0010	0	0	0	6.948e-05	0	0	0.065	0.44029	T	0.021	0.58613	D	0.001	0.09854	B	0.004	0.10090	B	0.941407	0.08351	U	0.961307	0.979372	0.39555	D	.	.	.	7.87	0.00331	T	-5.88	0.88699	D	0.129	0.12341	-1.0646	0.10642	T	0.000	0.00039	T	10	0.003316313	0.00057	T	.	.	.	0.088	0.25558	.	.	.	.	0.3182965296469853	0.31742	0.691323969143	0.60588	0.299167692661	0.10277	T	0.017577	0.14314	T	-0.655468	0.00067	T	-0.649226	0.09008	T	0.02403772754452	0.01149	T	0.162684	0.01473	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	1.177431	0.15679	12.02	0.80016420578156267	0.13006	0.03612	0.08845	N	ALL	0.215815	0.34113	N	-2.29836096021619	0.00046	0.001970145	-2.22797978748312	0.00097	0.004250061	0.999999969366938	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.193	0.14419	0.297000	0.18856	.	.	-4.622000	0.00024	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.4718:0.2098:0.3184	5.435	0.15776	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	85390.2	233	chr6	32664917	.	C	G,A	85390.2	.	AC=14,9;AF=0.333,0.214;AN=42;BaseQRankSum=0.684;DP=5279;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=14,9;MLEAF=0.333,0.214;MQ=59.41;MQRankSum=-1.614e+00;QD=23.27;ReadPosRankSum=-2.039e+00;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:231,0,33:264:99:0|1:32664911_T_G:690,1386,11045,0,9660,9560:32664911	5	3	5	0
chr6	32664926	32664926	G	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C251T:p.P84L	.	.	20	1284	160	58	0	276	0.0970464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.97	D	0.100	U	0.722	N	2.475	M	8.26	T	-0.988	T	0.001	T	0.485	1.832	12.08	0.064	-0.130	-0.282	10.579	0.119	.	.	.	0.0182	0.0107	0.0076	0.0048	0.0114	0.0123	0.0151	0.0628	0.0296956	4591	154602	rs9274395	0.0003	0.0032	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	7.464e-05	0.0002	0.0001	0	0.0003	0.0006	0.0003	0.0003	0.0011	0.0002	0.0078	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	7.089e-05	0.0002	0	0	0.0014	0	0	0.0046	0.0002	0	0.0006	0.069	0.40068	T	0.043	0.49942	D	0.052	0.22494	B	0.029	0.21540	B	0.099669	0.19922	U	0.369227	0.722216	0.33630	D	.	.	.	8.26	0.00269	T	-3.84	0.75058	D	0.15	0.15328	-0.9881	0.33077	T	0.001	0.00287	T	10	0.006448716	0.00146	T	.	.	.	0.119	0.33137	.	.	.	.	0.18514000446126433	0.18431	0.566269477264	0.52927	0.319175481796	0.13295	T	0.014743	0.12495	T	-0.159806	0.26790	T	-0.467326	0.25804	T	0.051758160492758	0.05806	T	0.0806919	0.00607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.25656	B	.;.;.;.	.;.;.;.	1.397222	0.18105	13.55	0.99226900122916373	0.56089	0.07262	0.13285	N	ALL	0.271360	0.38723	N	-0.744876639371783	0.14773	0.7387562	-0.902920104954735	0.12025	0.6161842	0.999999967135338	0.74766	0.652421	0.48094	0	0.504199	0.08210	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.064	0.13666	-0.204000	0.09426	.	.	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.5119:0.4881	10.579	0.44436	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	rs9274395	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.2143	7784.99	221	chr6	32664926	.	G	A	7784.99	.	AC=9;AF=0.214;AN=42;BaseQRankSum=5.16;DP=5217;ExcessHet=0.9430;FS=0.663;InbreedingCoeff=0.0101;MLEAC=9;MLEAF=0.214;MQ=58.26;MQRankSum=-8.878e+00;QD=5.88;ReadPosRankSum=-3.053e+00;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:234,38:272:99:0|1:32664911_T_G:860,0,9597:32664911	13	1	7	0
chr6	32666525	32666525	A	0	exonic	HLA-DQB1	.	.	.	.	.	0	4	73	139	10	361	0.977716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	55654.92	97	chr6	32666525	.	A	*,G	55654.92	.	AC=9,30;AF=0.214,0.714;AN=42;BaseQRankSum=-1.394e+00;DP=1812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=9,30;MLEAF=0.214,0.714;MQ=60.00;MQRankSum=0.00;QD=31.69;ReadPosRankSum=-4.920e-01;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,58:58:99:1|1:32666523_G_C:2590,2590,2590,175,175,0:32666523	1	1	0	0
chr6	33303829	33303829	C	G	exonic	TAPBP	.	nonsynonymous SNV	TAPBP:NM_172208:exon7:c.G1461C:p.W487C,	Bare lymphocyte syndrome, type I, Autosomal recessive	.	0	1476	44	2	0	48	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.002	B	.	.	1.000	N	.	.	1.32	T	-0.990	T	0.022	T	0.101	1.555	11.15	0.854	0.168	-0.086	2.115	0.026	.	0.0020	0.00279553	0.0052	0.0026	0.0055	0.0056	0.0021	0.0032	0.0072	0.0115	0.0019211	297	154602	rs145837211	0.0016	0.0016	0.0014	0.0018	0.0127	0.0016	0.0015	0.0103	0.0095	0.0031	0.0027	0.0051	0.0014	0.0010	0.0127	0.0009	0.0022	0.0077	0.0020	0.0020	0.0017	0.0022	0.0048	0.0018	0.0017	0.0033	0.0028	0.0020	0	0.0021	0.0072	0.0025	0.0006	0.0204	0.0015	0.0043	0.0048	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.32	0.35219	T	-0.23	0.10656	N	0.176	0.18920	-0.9904	0.32500	T	0.022	0.09559	T	8	0.003785193	0.00071	T	.	.	.	0.026	0.05648	0.584	0.71118	0.0986583533028	0.09354	0.2775634209155518	0.27669	1.37107048066	0.84535	0.263246119022	0.05283	T	0.006466	0.05902	T	-0.578465	0.00197	T	-0.598856	0.12908	T	0.0680362654739556	0.08373	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.59622	A	.	.	0.513929	0.08826	5.606	0.94410838252651941	0.24808	0.04522	0.10151	N	AEFBCI	0.030595	0.03109	N	-0.883694909074238	0.11230	0.5408289	-0.971091330464309	0.10438	0.5257059	0.98929254224207	0.31780	0.631515	0.41029	0	0.697927	0.68747	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	3.64	0.854	0.18144	-0.061000	0.11650	0.068000	0.14222	0.589000	0.31548	0.001000	0.13787	0.000000	0.08366	0.021000	0.11733	0.1946:0.4782:0.2117:0.1155	2.115	0.03486	649	0.63102	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1817.98	33	chr6	33303829	.	C	G	1817.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=875;ExcessHet=0.0000;FS=1.842;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=1.25;SOR=0.843	GT:AD:DP:GQ:PL	0/1:104,77:181:99:1832,0,2563	20	0	1	0
chr6	33670361	33670361	C	A	exonic	ITPR3	.	nonsynonymous SNV	ITPR3:NM_002224:exon19:c.C2226A:p.D742E,	.	.	411	1081	28	2	0	32	0.0145852	.	.	699552	ITPR3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.19	T	0.999	D	0.996	D	0.000	D	0.997	D	1.755	L	-3.04	D	0.374	D	0.734	D	0.409	3.683	18.71	2.94	0.388	2.077	9.947	0.552	.	0.0050	0.0061901	0.0032	0.0129	0.0013	0.0020	0.0009	0.0013	0.0022	0.0076	0.0028654	443	154602	rs2229633	0.0016	0.0016	0.0014	0.0018	0.0110	0.0015	0.0015	0.0101	0.0097	0.0110	0.0028	0.0061	0.0013	0.0010	0.0092	0.0007	0.0019	0.0068	0.0045	0.0045	0.0047	0.0042	0.0114	0.0042	0.0041	0.0106	0.0102	0.0114	0	0.0031	0.0086	0.0021	0.0006	0.0034	0.0012	0.0047	0.0041	0.179	0.22053	T	0.147	0.32783	T	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.997423	0.43877	D	2.305	0.65957	M	-3.04	0.92357	D	-3.0	0.62343	D	0.629	0.73735	0.374	0.88703	D	0.734	0.90891	D	10	0.0137833655	0.00291	T	.	.	.	0.552	0.81485	0.275	0.22687	0.934565858499	0.93389	0.6374912199327021	0.63683	1.17388174223	0.79838	0.734442591667	0.72156	T	0.672051	0.90277	D	-0.226168	0.17158	T	-0.0866196	0.64416	T	0.0238974007932212	0.01131	T	0.969303	0.88939	D	0.48998684	0.66502	0.24656922	0.50169	0.48998684	0.66503	0.24656922	0.50168	-10.948	0.79372	D	.	.	0.949	0.86952	P	.;.	.;.	3.926533	0.57362	23.8	0.9967623208858839	0.78912	0.93438	0.58217	D	AEFGBI	0.555448	0.56589	D	0.182642170245388	0.50367	3.227275	0.133167075273723	0.46257	2.87456	0.999966465697299	0.48965	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.81	2.94	0.33188	2.131000	0.41696	1.417000	0.26331	-0.187000	0.09635	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.8247:0.0:0.1753	9.947	0.40783	511	0.75131	.;.	.	.	.	.	.	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	2684.98	33	chr6	33670361	.	C	A	2684.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.083;DP=957;ExcessHet=0.0000;FS=0.491;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.09;ReadPosRankSum=-3.840e-01;SOR=0.628	GT:AD:DP:GQ:PL	0/1:116,106:222:99:2699,0,3073	20	0	1	0
chr6	33685425	33685425	C	T	exonic	ITPR3	.	nonsynonymous SNV	ITPR3:NM_002224:exon40:c.C5374T:p.R1792C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.977	D	0.000	D	1.000	D	2.785	M	-2.91	D	0.947	D	0.874	D	0.924	4.506	24.2	5.15	2.403	4.848	18.615	0.820	0.377037821578	.	.	0.0001	0	0	0.0001	0	0	0	0.0007	8.41e-05	13	154602	rs776949775	5.473e-05	5.472e-05	2.45e-05	8.526e-05	0.0007	4.477e-05	4.147e-05	0.0006	0.0005	0	8.947e-05	0	0	0	0	1.079e-05	1.656e-05	0.0007	4.598e-05	4.596e-05	2.568e-05	6.724e-05	0.0004	2.109e-05	1.526e-05	6.808e-05	2.85e-05	2.412e-05	0	0	0	0.0004	0	0	4.409e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-2.91	0.91696	D	-6.81	0.92942	D	0.855	0.87808	0.947	0.96352	D	0.874	0.95806	D	10	0.7636318	0.76535	D	0.377038	0.92882	D	0.820	0.94238	0.489	0.57415	0.96925740135	0.96892	0.6308086602069681	0.63014	1.36241963825	0.84364	0.824624836445	0.85739	D	0.83725	0.96171	D	0.188382	0.72816	D	0.400414	0.92128	D	0.584689080715179	0.35799	D	0.997242	0.98913	D	0.80061734	0.83945	0.428223	0.66542	0.80061734	0.83946	0.428223	0.66543	-8.992	0.67646	D	.	.	0.336	0.55658	B	.;.	.;.	5.503126	0.91608	32	0.99940426050368369	0.99767	0.91767	0.54220	D	AEFGBCI	0.764555	0.70131	D	0.717794757798599	0.80798	7.374976	0.660215330743747	0.79372	7.068788	0.999999974121021	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.15	5.15	0.70287	4.041000	0.57051	7.675000	0.64997	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	18.615	0.91254	509	0.75304	.;.	.	.	.	.	.	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	2413.98	73	chr6	33685425	.	C	T	2413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.493;DP=1616;ExcessHet=0.0000;FS=7.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=2.85;SOR=0.725	GT:AD:DP:GQ:PL	0/1:117,101:218:99:2428,0,2903	20	0	1	0
chr6	34858730	34858730	G	A	exonic	UHRF1BP1	.	nonsynonymous SNV	UHRF1BP1:NM_017754:exon14:c.G2374A:p.E792K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.0	B	0.0	B	0.382	N	1.000	N	0	N	3.11	T	-0.938	T	0.004	T	0.122	-1.214	0.065	1.49	0.377	2.214	8.707	0.020	0.00465226814567	.	0.000199681	0.0001	0	0	0	0	0	0	0.0009	0.0001035	16	154602	rs558660349	4.378e-05	4.378e-05	1.906e-05	6.875e-05	0.0007	3.509e-05	3.193e-05	0.0006	0.0005	0	0	0	0	0	0	0	4.967e-05	0.0007	1.313e-05	1.312e-05	0	2.684e-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	0.812	0.03020	T	0.848	0.03538	T	0.0	0.02946	B	0.0	0.01387	B	0.382181	0.04427	N	1.390360	1	0.08975	N	0.635	0.15989	N	3.11	0.08194	T	-0.51	0.16393	N	0.034	0.03956	-0.9380	0.42932	T	0.004	0.01295	T	10	0.010146171	0.00227	T	0.004652	0.11534	T	0.020	0.03691	0.238	0.16912	0.208816687407	0.20498	0.3965501162509416	0.39570	0.145081945757	0.16401	0.33926653862	0.16329	T	0.007638	0.07033	T	-0.589359	0.00169	T	-0.684104	0.06736	T	0.00949281011794612	0.00122	T	0.720928	0.33404	T	0.022684107	0.00948	0.035703547	0.02872	0.022684107	0.00948	0.035703547	0.02872	-5.166	0.38594	T	.	.	0.088	0.12512	B	.;.	.;.	1.482696	0.19084	14.08	0.65550276171715993	0.07804	0.42685	0.26932	N	AEFDBHCI	0.094938	0.19189	N	-1.14014229745727	0.05943	0.2723341	-1.07095851536305	0.08275	0.4062079	0.892331930325326	0.25881	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.84	1.49	0.21966	2.285000	0.43149	4.283000	0.42887	-0.169000	0.11342	0.171000	0.23947	0.982000	0.30508	0.882000	0.42233	0.2096:0.1138:0.6766:0.0	8.707	0.33522	280	0.88949	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2484.98	35	chr6	34858730	.	G	A	2484.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=898;ExcessHet=0.0000;FS=2.082;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.46;ReadPosRankSum=0.802;SOR=0.598	GT:AD:DP:GQ:PL	0/1:61,90:151:99:2499,0,1522	20	0	1	0
chr6	36291365	36291365	A	G	exonic	PNPLA1	.	nonsynonymous SNV	PNPLA1:NM_001145717:exon2:c.A251G:p.K84R	Ichthyosis, congenital, autosomal recessive 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.23	B	0.175	B	0.084	U	1.000	N	0.69	N	-1.03	T	-0.990	T	0.142	T	0.147	3.036	16.13	4.1	0.844	5.048	9.160	0.172	0.0249937709916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.18889	T	0.115	0.36630	T	0.23	0.30574	B	0.175	0.35598	B	0.084103	0.20715	U	0.331596	1	0.81001	D	1.53	0.38800	L	-1.03	0.76430	T	-1.81	0.42575	N	0.223	0.25006	-0.9904	0.32500	T	0.142	0.46275	T	10	0.18578598	0.34015	T	0.024994	0.47983	T	0.172	0.43662	0.345	0.33950	0.768449596528	0.76632	.	.	0.213063653711	0.23811	0.510883152485	0.40347	T	0.005896	0.05345	T	-0.0814537	0.39477	T	-0.354779	0.38655	T	0.691809058189392	0.40331	D	0.642236	0.25428	T	0.08893341	0.20763	0.1472266	0.34849	0.08893341	0.20763	0.1472266	0.34848	-5.181	0.38748	T	.	.	0.096	0.17146	B	.;.	.;.	2.766790	0.36307	20.2	0.99632889771362543	0.76142	0.95053	0.63266	D	ALL	0.609417	0.59862	D	-0.14403188675947	0.35489	2.039126	0.00882416738919273	0.40123	2.390	0.999999999999999	0.74766	0.525926	0.21836	0	0.59043	0.45803	0	0.615948	0.41167	0	0.631631	0.49550	0	.	.	5.26	4.1	0.47196	4.497000	0.60088	6.716000	0.56415	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9126:0.0:0.0874:0.0	9.160	0.36180	789	0.46346	Patatin-like phospholipase domain;Patatin-like phospholipase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	865.03	33	chr6	36291365	.	A	G	865.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-9.970e-01;DP=1831;ExcessHet=1.7912;FS=51.070;InbreedingCoeff=-0.1666;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.05;ReadPosRankSum=0.872;SOR=9.442	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,17:132:99:0|1:36291365_A_G:220,0,4604:36291365	15	0	6	0
chr6	37637433	37637433	G	A	exonic	MDGA1	.	nonsynonymous SNV	MDGA1:NM_153487:exon17:c.C2803T:p.P935S,	.	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.0	B	0.0	B	0.040	N	1.000	N	0	N	0.68	T	-1.024	T	0.032	T	0.061	0.987	9.031	3.79	1.032	0.127	1.729	0.085	0.00709802043731	8e-05	0.00119808	0.0009	0	0	0.0001	0	1.539e-05	0.0011	0.0066	0.0008085	125	154602	rs368283829	0.0004	0.0004	0.0002	0.0006	0.0061	0.0004	0.0004	0.0057	0.0055	0	0	3.828e-05	0	0	0	1.709e-05	0.0005	0.0061	0.0002	0.0002	0.0001	0.0004	0.0072	0.0002	0.0002	0.0054	0.0047	4.809e-05	0	0	0	0	0	0	0	0	0.0072	0.157	0.23997	T	0.919	0.02882	T	0.0	0.02946	B	0.0	0.01387	B	0.040300	0.01876	N	2.375910	0.99592	0.23164	N	0	0.06538	N	0.54	0.54911	T	-0.69	0.19720	N	0.049	0.02088	-1.0237	0.22508	T	0.032	0.13548	T	10	0.004071951	0.00080	T	0.007098	0.18814	T	0.085	0.24743	.	.	0.179529687257	0.17594	0.3383483539055604	0.33747	0.27685159354	0.30152	0.316940069199	0.12958	T	0.04567	0.27194	T	-0.618599	0.00112	T	-0.658183	0.08390	T	0.0154736069013546	0.00349	T	0.589541	0.21661	T	0.031368386	0.02964	0.050027642	0.07768	0.031368386	0.02964	0.050027642	0.07767	-2.836	0.08520	T	.	.	0.062	0.01348	B	.	.	1.393736	0.18068	13.53	0.92802882759002459	0.22326	0.27773	0.23370	N	AEFBCI	0.052999	0.09511	N	-0.518410470084063	0.21484	1.140536	-0.35710473751024	0.26290	1.451161	0.999950643079923	0.48110	0.516011	0.20929	0	0.588066	0.40923	0	0.608075	0.38828	0	0.586402	0.36253	0	.	.	4.77	3.79	0.42757	-0.009000	0.12703	2.427000	0.32714	-0.105000	0.15698	0.568000	0.27489	1.000000	0.68203	0.093000	0.17941	0.2776:0.0:0.4066:0.3158	1.729	0.02751	886	0.28090	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1606.98	33	chr6	37637433	.	G	A	1606.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=870;ExcessHet=0.0000;FS=0.629;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=-9.570e-01;SOR=0.630	GT:AD:DP:GQ:PL	0/1:72,67:139:99:1621,0,1648	20	0	1	0
chr6	38803192	38803192	A	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon21:c.A2264T:p.E755V	.	.	435	1074	11	2	0	15	0.00693481	.	.	226790	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.29	T	0.026	B	0.016	B	0.000	D	0.998	D	1.7	L	1.77	T	-1.101	T	0.041	T	0.757	2.405	14.00	5.63	2.263	5.646	13.651	0.175	.	0.0008	0.0155751	0.0084	9.711e-05	0.0006	0.0389	0	0.0007	0.0112	0.0381	0.0073802	1141	154602	rs139961713	0.0033	0.0035	0.0024	0.0043	0.0340	0.0033	0.0032	0.0330	0.0325	0.0004	0.0013	0.0002	0.0294	0	0.0092	0.0005	0.0043	0.0340	0.0029	0.0029	0.0021	0.0038	0.0377	0.0027	0.0026	0.0332	0.0315	0.0001	0	0.0014	0	0.0357	0	0.0068	0.0006	0.0019	0.0377	0.16	0.23721	T	.	.	.	0.026	0.19406	B	0.016	0.17743	B	0.000002	0.62929	D	0.056631	0.998157	0.44569	D	2.32	0.66415	M	1.61	0.28391	T	-2.63	0.56466	D	0.743	0.74371	-1.1012	0.03949	T	0.041	0.17488	T	10	0.0049007535	0.00105	T	.	.	.	0.175	0.44197	.	.	0.601095518603	0.59790	0.5794384601802138	0.57872	0.163403841518	0.18430	0.495767742395	0.38238	T	0.031977	0.22285	T	-0.303897	0.08296	T	-0.182144	0.56325	T	0.022446608822666	0.00959	T	0.746525	0.36724	T	0.28162768	0.51205	0.2895242	0.54972	0.25956735	0.49010	0.2766209	0.53607	-4.676	0.33112	T	.	.	0.251	0.53625	B	.;.;.	.;.;.	3.381300	0.46769	22.4	0.98140405771353367	0.38597	0.94591	0.61666	D	AEFBHCI	0.621014	0.60586	D	0.0607193182860931	0.44638	2.734117	0.238160928124357	0.51977	3.375985	0.999989543661496	0.51787	0.615465	0.37627	0	0.588015	0.36545	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.63	5.63	0.86108	6.073000	0.70878	11.102000	0.86142	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	13.651	0.61781	495	0.76383	.;.;.	.	.	.	.	.	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	925.98	47	chr6	38803192	.	A	T	925.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.876e+00;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.40;ReadPosRankSum=1.24;SOR=0.784	GT:AD:DP:GQ:PL	0/1:48,41:89:99:940,0,1326	20	0	1	0
chr6	41070093	41070093	G	A	exonic	OARD1	.	stopgain	OARD1:NM_001329688:exon3:c.C226T:p.R76X	.	.	447	1057	16	2	0	20	0.00937207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.890	28.1	3.93	1.464	2.398	12.645	.	.	0.0022	0.00159744	0.0032	9.681e-05	0.0012	0	0.0059	0.0030	0.0044	0.0073	0.0028719	444	154602	rs144679838	0.0024	0.0026	0.0022	0.0027	0.0067	0.0024	0.0023	0.0062	0.0060	0.0006	0.0009	0.0017	7.586e-05	0.0052	0.0049	0.0022	0.0021	0.0067	0.0020	0.0020	0.0019	0.0021	0.0037	0.0018	0.0017	0.0024	0.0021	0.0003	0	0.0012	0.0035	0.0002	0.0055	0.0068	0.0026	0.0014	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.62929	D	0.057970	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.425	0.46928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258468	0.79388	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.;.;Recessive;.;Recessive;.;.	High;High;.;.;High;.;High;.;.	10.088343	0.99560	45	0.99597497596093676	0.73983	0.92099	0.54942	D	AEFBI	0.063135	0.12179	N	0.713788439934516	0.80536	7.31595	0.580133238804633	0.73515	5.983354	0.999977607773736	0.50053	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.91	3.93	0.44666	2.498000	0.45023	8.042000	0.76319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.6544:0.3456	12.645	0.56089	478	0.77585	Macro domain|Macro domain|Macro domain;Macro domain|Macro domain|Macro domain;Macro domain;Macro domain;Macro domain|Macro domain|Macro domain;Macro domain;Macro domain|Macro domain|Macro domain;Macro domain|Macro domain;Macro domain|Macro domain|Macro domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1244.98	42	chr6	41070093	.	G	A	1244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.16;DP=884;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=0.159;SOR=0.746	GT:AD:DP:GQ:PL	0/1:56,51:107:99:1259,0,1221	20	0	1	0
chr6	41736997	41736997	C	A	exonic	PGC	.	nonsynonymous SNV	PGC:NM_002630:exon9:c.G1022T:p.G341V,	.	.	415	1077	28	2	0	32	0.0146386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.936	P	0.847	P	0.746	N	1.000	N	3.505	H	1.07	T	-0.964	T	0.181	T	0.25	2.624	14.73	-0.397	-0.008	0.307	6.667	0.071	0.0221586271214	0.0005	0.00119808	0.0016	0	0.0003	0.0001	0.0002	0.0007	0.0023	0.0087	0.0013066	202	154602	rs146485859	0.0009	0.0009	0.0007	0.0012	0.0080	0.0009	0.0009	0.0075	0.0073	8.966e-05	0.0004	0.0013	0.0001	9.37e-05	0.0061	0.0005	0.0015	0.0080	0.0007	0.0007	0.0005	0.0008	0.0075	0.0006	0.0005	0.0055	0.0049	0.0002	0	0.0004	0.0023	0.0002	0	0.0068	0.0006	0.0014	0.0075	0.001	0.78490	D	0.078	0.42261	T	0.936	0.52359	P	0.847	0.60522	P	0.746298	0.06458	N	1.119980	0.999995	0.08975	N	3.685	0.94485	H	1.07	0.39586	T	-5.73	0.87611	D	0.418	0.45803	-0.9639	0.38428	T	0.181	0.52889	T	10	0.017688364	0.00379	T	0.022159	0.45019	T	0.071	0.20720	.	.	0.53177700221	0.52827	0.8226655142697801	0.82223	0.458892560868	0.45492	0.305901169777	0.11288	T	0.087464	0.37947	T	-0.459583	0.00989	T	-0.427808	0.30186	T	0.126171198449256	0.15024	T	0.59644	0.22167	T	0.3811278	0.59398	0.4182421	0.65854	0.3811278	0.59398	0.4182421	0.65854	-9.789	0.72638	D	.	.	0.359	0.57142	A	.	.	2.044254	0.25985	16.96	0.98421708193010871	0.41288	0.23523	0.22103	N	AEFDBI	0.215925	0.34123	N	-0.318322445950699	0.28453	1.569451	-0.613910533028169	0.19135	1.025364	0.999942990448201	0.47345	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.564101	0.26826	0	.	.	4.82	-0.397	0.11804	0.696000	0.25220	-1.193000	0.06063	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.603:0.1171:0.28	6.667	0.22237	605	0.67457	Peptidase family A1 domain|Peptidase family A1 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	994.98	34	chr6	41736997	.	C	A	994.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.772;DP=812;ExcessHet=0.0000;FS=1.710;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.58;ReadPosRankSum=1.02;SOR=0.905	GT:AD:DP:GQ:PL	0/1:53,41:94:99:1009,0,1283	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	0/1:80,32:118:58:58,0,1363	4	0	14	3
chr6	45422694	45422714	CAGCAGCAGCAGCAACAGCAG	-	exonic	RUNX2	.	nonframeshift deletion	RUNX2:NM_001278478:exon1:c.118_138del:p.Q51_Q57del	Cleidocranial dysplasia, Autosomal dominant;Cleidocranial dysplasia, forme fruste, dental anomalies only, Autosomal dominant;Cleidocranial dysplasia, forme fruste, with brachydactyly, Autosomal dominant;Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, Autosomal dominant	.	1	1502	4	0	15	19	0.00132979	.	.	193463	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.0004	0.0013	0.0012	0.0006	0.0018	0.0012	0.0004	0.0003074	8	26028	rs1159091308	0.0014	0.0014	0.0013	0.0014	0.0015	0.0013	0.0013	0.0015	0.0015	0.0006	0.0007	0.0001	0.0009	0.0015	0.0011	0.0015	0.0017	0.0004	0.0016	0.0016	0.0018	0.0013	0.0026	0.0014	0.0013	0.0022	0.0021	0.0010	0	0.0007	0	0.0004	0.0007	0	0.0026	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1234.94	37	chr6	45422693	.	ACAGCAGCAGCAGCAACAGCAG	A	1234.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.390;DP=900;ExcessHet=0.0000;FS=2.823;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=0.346;SOR=0.454	GT:AD:DP:GQ:PL	0/1:56,34:90:99:1249,0,2135	20	0	1	0
chr6	47286064	47286064	C	T	exonic	TNFRSF21	.	nonsynonymous SNV	TNFRSF21:NM_014452:exon2:c.G628A:p.V210I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.011	B	0.003	B	0.000	N	1.000	D	1.095	L	0.02	T	-1.067	T	0.070	T	0.085	2.264	13.53	1.91	0.432	-0.167	6.731	0.075	0.00771322339655	7.7e-05	.	2.471e-05	0	8.643e-05	0.0001	0	1.499e-05	0	0	3.88e-05	6	154602	rs138310721	3.01e-05	3.078e-05	2.859e-05	3.163e-05	5.038e-05	2.281e-05	2.032e-05	2.54e-05	2.224e-05	0	2.236e-05	0	5.038e-05	0	0	3.417e-05	0	3.478e-05	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.256	0.16793	T	0.162	0.31225	T	0.011	0.15914	B	0.003	0.08700	B	0.000006	0.62929	N	0.108004	0.999986	0.54805	D	1.115	0.28702	L	0.02	0.62318	T	0.11	0.05706	N	0.09	0.06854	-1.0665	0.10200	T	0.070	0.28609	T	10	0.091699034	0.16084	T	0.007713	0.20457	T	0.075	0.21907	.	.	0.110392049598	0.10638	0.3895023900043442	0.38865	0.226960107562	0.25244	0.276895016432	0.07063	T	0.309	0.68143	T	-0.377195	0.03244	T	-0.553889	0.16953	T	0.0557356403553317	0.06479	T	0.743326	0.36245	T	0.055186607	0.10690	0.059801664	0.11283	0.055186607	0.10690	0.059801664	0.11283	-3.781	0.20521	T	.	.	0.061	0.01161	B	.	.	0.790677	0.11611	8.199	0.97096056994622681	0.32345	0.25564	0.22736	N	AEFDBI	0.143502	0.26622	N	-0.710157384477086	0.15735	0.7956334	-0.60289688878029	0.19418	1.041738	0.0207127875484961	0.13284	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	1.91	0.24841	-0.082000	0.11268	-0.446000	0.09129	-0.252000	0.07121	0.001000	0.13787	0.000000	0.08366	0.980000	0.58198	0.0:0.6165:0.121:0.2625	6.731	0.22569	826	0.39940	TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|Tumor necrosis factor receptor 21, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2792.98	34	chr6	47286064	.	C	T	2792.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=860;ExcessHet=0.0000;FS=7.504;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.24;ReadPosRankSum=0.150;SOR=1.266	GT:AD:DP:GQ:PL	0/1:62,100:162:99:2807,0,1451	20	0	1	0
chr6	52452799	52452799	T	C	exonic	EFHC1	.	nonsynonymous SNV	EFHC1:NM_018100:exon4:c.T685C:p.F229L	.	.	0	1500	22	0	0	22	0.00727995	.	.	17103	not_specified|Myoclonic_epilepsy,_juvenile,_susceptibility_to,_1|not_provided|Absence_seizure	MedGen:CN169374|MONDO:MONDO:0020752,MedGen:C1850778,OMIM:254770|MedGen:C3661900|MONDO:MONDO:0850093,MedGen:C0014553,Orphanet:1941	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.66	T	0.967	D	0.7	P	0.000	D	0.959	D	2.23	M	-0.03	T	-0.669	T	0.230	T	0.85	2.519	14.38	6.01	2.299	4.611	12.303	0.399	0.031365780839	0.0033	0.00179712	0.0036	0.0005	0.0019	0	0	0.0046	0.0044	0.0059	0.003454	534	154602	rs137852776	0.0034	0.0034	0.0032	0.0036	0.0175	0.0033	0.0033	0.0147	0.0137	0.0009	0.0023	0.0093	0	0.0001	0.0175	0.0033	0.0049	0.0064	0.0025	0.0025	0.0027	0.0022	0.0037	0.0023	0.0022	0.0033	0.0032	0.0004	0.0011	0.0027	0.0081	0.0006	0.0002	0.0102	0.0037	0.0066	0.0031	0.122	0.28646	T	0.46	0.12597	T	0.504	0.37219	P	0.313	0.41496	B	0.000485	0.43931	D	0.293940	0.933231	0.38088	D	2.095	0.58118	M	-0.03	0.66834	T	-3.63	0.69714	D	0.549	0.57518	-0.6689	0.61879	T	0.230	0.59534	T	10	0.008032471	0.00182	T	0.031366	0.53467	D	0.399	0.71321	0.716	0.85141	0.731118981328	0.72872	0.5701267345547452	0.56940	0.121426892883	0.13675	0.618223547935	0.55478	T	0.058338	0.63291	T	-0.0980215	0.36755	T	0.0884799	0.76144	D	0.0429790339192971	0.04234	T	0.915508	0.87759	D	0.23443545	0.46263	0.23962149	0.49316	0.19015794	0.40589	0.21333316	0.45839	-5.389	0.40813	T	0.3224772137888053	0.42062	0.768	0.80895	P	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.128566	0.61766	24.4	0.98029295558647345	0.37697	0.91334	0.53324	D	AEFDBI	0.459867	0.51029	N	0.321863335675946	0.57272	3.893954	0.416421696834408	0.62587	4.476721	0.992551105850647	0.32882	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.01	6.01	0.97420	4.606000	0.60832	7.895000	0.73253	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0673:0.0:0.9327	12.303	0.54206	857	0.34089	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	2108.98	35	chr6	52452799	.	T	C	2108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.550e-01;DP=880;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=0.203;SOR=0.651	GT:AD:DP:GQ:PL	0/1:100,88:188:99:2123,0,2459	20	0	1	0
chr6	54160379	54160379	C	G	exonic	MLIP	.	nonsynonymous SNV	MLIP:NM_138569:exon5:c.C697G:p.P233A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	D	1.000	D	1.845	L	1.06	T	-0.701	T	0.225	T	0.798	3.951	20.2	5.62	2.657	4.993	17.152	0.202	0.0723567226033	.	.	8.456e-06	0	0	0	0	1.54e-05	0	0	6.5e-06	1	154602	rs754517937	4.795e-06	4.788e-06	6.815e-06	2.754e-06	5.401e-06	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.401e-06	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.016	0.92824	D	0.999	0.90584	D	0.99	0.92359	D	0.000031	0.55875	D	0.072870	0.947118	0.81001	D	1.845	0.48678	L	0.85	0.47130	T	-4.5	0.89093	D	0.458	0.49874	-0.7013	0.60376	T	0.225	0.58881	T	10	0.38137016	0.54219	T	0.072357	0.71512	D	0.202	0.48754	0.256	0.19689	0.356281029322	0.35234	0.07557284818015642	0.07493	0.0779450384907	0.08777	0.397915840149	0.24779	T	0.03428	0.40554	T	0.102149	0.64524	D	-0.0910471	0.64083	T	0.977997601032257	0.72109	D	0.872813	0.74278	D	0.76874965	0.81973	0.7937256	0.87877	0.76874965	0.81975	0.7937256	0.87878	-1.976	0.03265	T	.	.	0.129	0.27732	B	.;.;.;.;.;.	.;.;.;.;.;.	4.266936	0.64895	24.8	0.99541451508683032	0.70523	0.96060	0.67351	D	AEFI	0.812401	0.73514	D	0.712287191991113	0.80436	7.294197	0.709830335300869	0.83124	7.940435	0.990990209132392	0.32338	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.62	5.62	0.85714	3.831000	0.55477	7.600000	0.61533	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	17.152	0.86660	770	0.49152	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	818.98	35	chr6	54160379	.	C	G	818.98	.	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=13.88;ReadPosRankSum=-4.480e-01;SOR=0.563	GT:AD:DP:GQ:PL	0/1:31,28:59:99:833,0,827	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	0/1:40,4,0:48:2:2,0,857,112,952,1195	6	0	12	1
chr6	65303724	65303724	C	G	exonic	LOC441155	.	nonsynonymous SNV	LOC441155:NM_001271675:exon2:c.C1203G:p.I401M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0053	0	0	0	.	0.0065	0	0	0.000461	12	26028	rs535713757	0.0032	0.0036	0.0032	0.0031	0.0041	0.0030	0.0030	0.0039	0.0039	0.0006	0.0022	0	3.18e-05	0.0035	0	0.0041	0.0040	0.0008	0.0023	0.0025	0.0028	0.0018	0.0037	0.0021	0.0020	0.0032	0.0030	0.0009	0.0032	0.0013	0	0	0.0023	0	0.0037	0.0030	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	80.05	11	chr6	65303724	.	C	G	80.05	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.778;DP=196;ExcessHet=0.0000;FS=6.154;InbreedingCoeff=-0.0297;MLEAC=1;MLEAF=0.024;MQ=27.00;MQRankSum=0.00;QD=7.28;ReadPosRankSum=-1.790e-01;SOR=1.447	GT:AD:DP:GQ:PL	0/1:7,4:11:94:94,0,189	20	0	1	0
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	0.939	D	1.955	M	-2.54	D	0.480	D	0.698	D	0.589	3.817	19.38	2.91	0.879	1.891	11.092	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4643	8626.22	29	chr6	80007990	.	G	C,A	8626.22	.	AC=9,4;AF=0.321,0.143;AN=28;BaseQRankSum=-1.515e+00;DP=1035;ExcessHet=11.8493;FS=213.695;InbreedingCoeff=-0.6471;MLEAC=11,5;MLEAF=0.393,0.179;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.474;SOR=11.340	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:40,0,28:68:99:0|1:80007990_G_A:831,950,2481,0,1531,1452:80007990	1	0	9	7
chr6	80007992	80007997	GTTTTG	-	exonic	TTK	.	nonframeshift deletion	TTK:NM_001166691:exon3:c.323_328del:p.S108_A110delinsT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	8059.53	71	chr6	80007991	.	AGTTTTG	A,AG,ATG	8059.53	.	AC=5,5,3;AF=0.119,0.119,0.071;AN=42;BaseQRankSum=-1.812e+00;DP=1299;ExcessHet=11.8493;FS=210.889;InbreedingCoeff=-0.4483;MLEAC=5,5,3;MLEAF=0.119,0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.164;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,28,0,0:69:99:0|1:80007990_G_A:828,0,1494,950,1573,2523,950,1573,2523,2523:80007990	8	0	5	0
chr6	80007993	80007997	TTTTG	-	exonic	TTK	.	stopgain	TTK:NM_001166691:exon3:c.324_328del:p.F109*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	8059.53	71	chr6	80007991	.	AGTTTTG	A,AG,ATG	8059.53	.	AC=5,5,3;AF=0.119,0.119,0.071;AN=42;BaseQRankSum=-1.812e+00;DP=1299;ExcessHet=11.8493;FS=210.889;InbreedingCoeff=-0.4483;MLEAC=5,5,3;MLEAF=0.119,0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.164;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,28,0,0:69:99:0|1:80007990_G_A:828,0,1494,950,1573,2523,950,1573,2523,2523:80007990	8	0	5	0
chr6	80007992	80007992	G	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	140.96	42	chr6	80007992	.	G	*,C	140.96	.	AC=13,2;AF=0.382,0.059;AN=34;BaseQRankSum=1.16;DP=1027;ExcessHet=26.1958;FS=251.456;InbreedingCoeff=-0.6204;MLEAC=15,2;MLEAF=0.441,0.059;MQ=60.00;MQRankSum=0.00;QD=0.19;ReadPosRankSum=0.578;SOR=11.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,28,5:61:99:1|0:80007990_G_A:907,0,1426,871,451,1292:80007990	2	0	13	4
chr6	80007997	80007997	-	CCCCCA	exonic	TTK	.	nonframeshift insertion	TTK:NM_001166691:exon3:c.328_329insCCCCCA:p.A110_R111insPT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	2870.52	47	chr6	80007997	.	G	GCCCCCA	2870.52	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-1.779e+00;DP=993;ExcessHet=2.5830;FS=136.989;InbreedingCoeff=-0.2354;MLEAC=8;MLEAF=0.211;MQ=60.00;MQRankSum=0.00;QD=7.74;ReadPosRankSum=0.519;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,26:61:99:0|1:80007990_G_A:771,0,1332:80007990	12	0	7	2
chr6	81752025	81752025	-	CCGCCGAAGTCGCCG	exonic	TENT5A	.	nonframeshift insertion	TENT5A:NM_017633:exon2:c.116_117insCGGCGACTTCGGCGG:p.G45_G46insDFGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	25831.7	45	chr6	81752010	.	ACCGCCGAAGTCGCCG	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG,A,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	25831.7	.	AC=22,7,4;AF=0.524,0.167,0.095;AN=42;BaseQRankSum=0.050;DP=1691;ExcessHet=0.0020;FS=1.111;InbreedingCoeff=0.5758;MLEAC=22,7,4;MLEAF=0.524,0.167,0.095;MQ=59.99;MQRankSum=0.00;QD=28.92;ReadPosRankSum=-7.030e-01;SOR=0.456	GT:AD:DP:GQ:PL	1/1:0,44,0,0:44:99:1973,129,0,1976,132,1980,1976,132,1980,1980	3	8	1	0
chr6	81752025	81752025	-	CCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	exonic	TENT5A	.	nonframeshift insertion	TENT5A:NM_017633:exon2:c.116_117insCGGCGACTTCGGCGGCGGCGACTTCGGCGG:p.G45_G46insDFGGGDFGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	25831.7	45	chr6	81752010	.	ACCGCCGAAGTCGCCG	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG,A,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	25831.7	.	AC=22,7,4;AF=0.524,0.167,0.095;AN=42;BaseQRankSum=0.050;DP=1691;ExcessHet=0.0020;FS=1.111;InbreedingCoeff=0.5758;MLEAC=22,7,4;MLEAF=0.524,0.167,0.095;MQ=59.99;MQRankSum=0.00;QD=28.92;ReadPosRankSum=-7.030e-01;SOR=0.456	GT:AD:DP:GQ:PL	1/1:0,44,0,0:44:99:1973,129,0,1976,132,1980,1976,132,1980,1980	3	8	1	0
chr6	83665471	83665471	T	C	exonic	SNAP91	.	nonsynonymous SNV	SNAP91:NM_001376728:exon2:c.A67G:p.T23A	.	.	433	1086	2	1	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.513	P	0.299	B	0.000	D	1.000	D	1.99	M	1.41	T	-1.081	T	0.063	T	0.456	4.501	24.2	5.59	2.250	5.096	16.062	0.128	.	0.0047	0.00459265	0.0012	0.0139	0.0003	0	0	1.499e-05	0	0	0.0011513	178	154602	rs73486951	0.0004	0.0004	0.0005	0.0003	0.0147	0.0004	0.0004	0.0136	0.0132	0.0147	0.0006	0	0	0	0.0017	1.44e-05	0.0012	0	0.0042	0.0042	0.0043	0.0041	0.0142	0.0039	0.0038	0.0132	0.0129	0.0142	0	0.0024	0	0	0	0	2.943e-05	0.0038	0	0.084	0.50676	T	0.139	0.44702	T	0.513	0.37366	P	0.299	0.41006	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.82	0.47800	L	1.41	0.33412	T	-4.3	0.77225	D	0.547	0.57348	-1.0813	0.07099	T	0.063	0.26279	T	10	0.0110556185	0.00243	T	.	.	.	0.128	0.35103	.	.	0.488177308408	0.48449	0.5807877461369287	0.58007	0.891209446568	0.70242	0.696984529495	0.66709	T	0.09369	0.64076	T	-0.41813	0.01758	T	-0.361067	0.37928	T	0.0309358944289285	0.02135	T	0.938506	0.76886	D	0.45025027	0.64057	0.47673142	0.69682	0.45025027	0.64057	0.47673142	0.69683	-8.993	0.67652	D	.	.	0.136	0.44847	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	4.351738	0.66846	25.0	0.99817500337645459	0.90061	0.95808	0.66241	D	AEFBI	0.808121	0.73198	D	0.224296537290429	0.52378	3.412419	0.350923420042833	0.58562	4.027597	0.707181596139267	0.22774	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.59	5.59	0.84677	4.198000	0.58217	5.081000	0.47267	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.062	0.80653	501	0.75956	AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;.;.;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  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	2347.98	33	chr6	83665471	.	T	C	2347.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.358;DP=948;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=-2.640e-01;SOR=0.691	GT:AD:DP:GQ:PL	0/1:116,102:218:99:2362,0,2800	20	0	1	0
chr6	87418291	87418291	C	T	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.C715T:p.R239C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.024	B	0.011	B	0.018	N	0.695	D	1.245	L	1.45	T	-1.087	T	0.022	T	0.407	0.658	7.528	0.761	0.136	0.476	5.253	0.062	.	0.0035	0.00219649	0.0009	0.0104	0.0002	0	0	1.498e-05	0	0	0.0007891	122	154602	rs149134342	0.0003	0.0003	0.0003	0.0003	0.0113	0.0003	0.0003	0.0104	0.0100	0.0113	0.0002	0	0	0	0.0007	1.529e-05	0.0006	2.319e-05	0.0030	0.0030	0.0030	0.0031	0.0107	0.0028	0.0027	0.0099	0.0096	0.0107	0	0.0010	0	0	0	0	1.47e-05	0.0005	0	0.064	0.36509	T	0.124	0.44501	T	0.024	0.19075	B	0.011	0.15521	B	0.018191	0.27540	N	0.420757	0.694988	0.33364	D	.	.	.	1.44	0.32722	T	-3.49	0.70553	D	0.218	0.24385	-1.0872	0.06013	T	0.022	0.09559	T	10	0.01174444	0.00255	T	.	.	.	0.062	0.17934	.	.	0.374255764437	0.37033	0.2965965466707381	0.29572	0.217862726662	0.24320	.	.	.	0.315899	0.68748	T	-0.492122	0.00633	T	-0.469288	0.25592	T	0.00878645232968274	0.00108	T	0.80002	0.44558	T	0.08206361	0.18887	0.046393584	0.06456	0.08206361	0.18887	0.046393584	0.06455	-5.201	0.38952	T	.	.	0.084	0.10062	B	.;.	.;.	1.348362	0.17559	13.23	0.93703067657403694	0.23616	0.05836	0.11778	N	AEFI	0.066056	0.12916	N	-0.919123806638753	0.10395	0.4965417	-0.923019652844006	0.11552	0.589176	1.78363529148088E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.16	0.761	0.17594	0.603000	0.23848	0.193000	0.15765	-0.266000	0.06809	0.001000	0.13787	0.013000	0.20296	0.053000	0.15439	0.1373:0.5963:0.0:0.2664	5.253	0.14847	819	0.41190	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1492.98	33	chr6	87418291	.	C	T	1492.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.690;DP=847;ExcessHet=0.0000;FS=1.515;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=-1.040e-01;SOR=0.910	GT:AD:DP:GQ:PL	0/1:53,62:115:99:1507,0,1192	20	0	1	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	0/1:46,18:64:19:.:.:19,0,887	6	0	13	2
chr6	109979594	109979594	C	T	exonic	GPR6	.	nonsynonymous SNV	GPR6:NM_005284:exon2:c.C482T:p.A161V	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.999	D	0.992	D	0.000	D	1.000	D	2.075	M	1.14	T	-0.857	T	0.171	T	0.789	4.827	27.4	4.83	2.504	7.647	18.095	0.300	0.0278656356506	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1484359266	4.793e-06	6.84e-06	5.452e-06	4.129e-06	0.0001	1.99e-06	1.28e-06	5.804e-05	3.952e-05	0	0.0001	0	0	0	0	8.993e-07	0	0	0.0001	0.0001	8.99e-05	0.0002	0.0013	8.664e-05	7.256e-05	0.0009	0.0007	0	0	0.0013	0	0	0	0	0	0	0	0.001	0.78490	D	0.017	0.60972	D	0.999	0.77913	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.02	0.55341	M	1.14	0.38397	T	-3.58	0.69118	D	0.84	0.83576	-0.8566	0.51505	T	0.171	0.51229	T	10	0.68684274	0.71613	D	0.027866	0.50625	D	0.300	0.62068	0.684	0.82175	0.331200485591	0.32731	0.7660670996959273	0.76555	1.88974443381	0.92707	0.847862482071	0.89291	D	0.388137	0.74889	T	-0.0684379	0.41576	T	-0.066783	0.65856	T	0.885012030601501	0.53530	D	0.964504	0.86839	D	0.7164738	0.78966	0.654751	0.79788	0.7164738	0.78967	0.654751	0.79789	-4.064	0.24757	T	.	.	0.434	0.61408	A	.;.	.;.	5.254140	0.88221	29.5	0.99928449480718451	0.99222	0.68248	0.33730	D	AEFDBCI	0.934561	0.92811	D	0.761674937716804	0.83662	8.076716	0.731654548959484	0.84779	8.388975	0.99999999999994	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	4.83	4.83	0.61880	7.902000	0.86082	7.504000	0.59526	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.095	0.89414	330	0.86467	.;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	0.02381	2119.98	33	chr6	109979594	.	C	T	2119.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.520e-01;DP=879;ExcessHet=0.0000;FS=5.132;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.04;ReadPosRankSum=0.301;SOR=0.390	GT:AD:DP:GQ:PL	0/1:62,79:141:99:2134,0,1604	20	0	1	0
chr6	131169184	131169184	C	T	exonic	AKAP7	.	nonsynonymous SNV	AKAP7:NM_001376570:exon5:c.C500T:p.P167L	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.959	D	0.641	P	0.000	D	1.000	D	2.24	M	-0.01	T	-0.693	T	0.248	T	0.278	4.613	25.2	5.9	2.788	4.775	15.779	0.328	.	0.0063	0.00519169	0.0015	0.0165	0.0006	0	0	5.995e-05	0.0011	0	0.0014165	219	154602	rs115301121	0.0005	0.0005	0.0005	0.0004	0.0148	0.0004	0.0004	0.0137	0.0133	0.0148	0.0011	0	0	0	0.0019	3.327e-05	0.0010	8.115e-05	0.0045	0.0045	0.0049	0.0042	0.0159	0.0043	0.0041	0.0149	0.0145	0.0159	0	0.0012	0	0	0	0	7.351e-05	0.0019	0.0002	0.066	0.36113	T	0.006	0.70582	D	0.945	0.55135	P	0.641	0.52117	P	0.000021	0.62929	D	0.159801	0.999999	0.58761	D	2.655	0.77738	M	-0.01	0.62762	T	-3.59	0.69236	D	0.528	0.55713	-0.6930	0.60768	T	0.248	0.61681	T	10	0.014885068	0.00313	T	.	.	.	0.328	0.65026	.	.	0.934643433999	0.93397	0.5025769048239466	0.50179	0.219891131155	0.24531	0.462177664042	0.33609	T	0.035731	0.24023	T	-0.376963	0.03256	T	-0.301284	0.44589	T	0.0419289302349983	0.04043	T	0.905209	0.67067	D	0.5658736	0.70834	0.2626663	0.52061	0.5658736	0.70835	0.2626663	0.52060	-10.797	0.78532	D	.	.	0.155	0.38336	B	.;.	.;.	3.925211	0.57339	23.8	0.99836535575761709	0.91714	0.90695	0.52087	D	AEFI	0.661611	0.63177	D	0.635727966431153	0.75449	6.307652	0.667538004205111	0.79923	7.186107	0.98946821896574	0.31835	0.638212	0.43195	0	0.573888	0.26702	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.9	5.9	0.94952	5.203000	0.65009	4.842000	0.45294	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	15.779	0.78017	575	0.70088	Protein kinase A anchor protein, nuclear localisation signal domain;Protein kinase A anchor protein, nuclear localisation signal 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	1008.98	38	chr6	131169184	.	C	T	1008.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.242e+00;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.30;ReadPosRankSum=-1.017e+00;SOR=0.702	GT:AD:DP:GQ:PL	0/1:51,47:98:99:1023,0,1257	20	0	1	0
chr6	143511615	143511615	-	GGA	exonic	FUCA2	.	nonframeshift insertion	FUCA2:NM_032020:exon1:c.19_20insTCC:p.L6_P7insL,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0	0	0.0012	3.84e-05	1	26028	rs750606009	7.009e-05	7.388e-05	3.556e-05	0.0001	0.0010	5.874e-05	5.442e-05	0.0008	0.0007	0	0	0	0	0	0	1.119e-05	0.0002	0.0010	2.628e-05	2.626e-05	2.569e-05	2.689e-05	0.0004	8.14e-06	5.14e-06	7.279e-05	3.025e-05	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1358.94	35	chr6	143511615	.	G	GGGA	1358.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.619;DP=781;ExcessHet=0.0000;FS=2.890;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.10;ReadPosRankSum=-9.880e-01;SOR=1.069	GT:AD:DP:GQ:PL	0/1:53,37:90:99:1373,0,2114	20	0	1	0
chr6	150065536	150065536	C	T	exonic	ULBP3	.	nonsynonymous SNV	ULBP3:NM_024518:exon3:c.G490A:p.A164T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.59	P	0.099	B	.	.	1.000	N	0.845	L	0.15	T	-1.085	T	0.035	T	0.118	1.558	11.16	-3.65	-0.937	-1.590	5.679	0.035	0.0102762821705	.	0.000599042	0.0005	0	0	0	0	1.498e-05	0	0.0037	0.0004204	65	154602	rs571728197	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0032	0.0030	2.987e-05	0	0	0	0	0.0002	3.597e-06	0.0003	0.0035	0.0001	0.0001	6.424e-05	0.0001	0.0025	6.508e-05	5.32e-05	0.0014	0.0011	4.813e-05	0	0	0	0	0	0	2.941e-05	0	0.0025	0.013	0.53900	D	0.007	0.69154	D	0.59	0.39078	P	0.099	0.30579	B	.	.	.	.	1	0.08975	N	.	.	.	0.15	0.60734	T	-0.92	0.24676	N	0.18	0.22228	-1.0846	0.06480	T	0.035	0.15291	T	9	0.0078653395	0.00179	T	0.010276	0.26632	T	0.035	0.08770	0.386	0.40624	0.50055108712	0.49690	0.055480922669224185	0.05489	0.261761956274	0.28725	0.257609426975	0.04610	T	0.004985	0.04407	T	-0.559278	0.00256	T	-0.577297	0.14787	T	0.0328648684161455	0.02448	T	0.868313	0.57032	D	0.10842715	0.25638	0.155573	0.36461	0.10842715	0.25637	0.155573	0.36460	-3.576	0.17510	T	.	.	0.103	0.18539	B	.;.	.;.	0.300201	0.06761	3.274	0.9070571285153004	0.19956	0.00725	0.03048	N	AEFDBI	0.030768	0.03161	N	-1.21438601088794	0.04791	0.2169591	-1.37588709431782	0.03510	0.1639071	0.890961743072875	0.25848	0.706548	0.73137	0	0.610034	0.51514	0	0.566861	0.19136	0	0.714379	0.83352	0	.	.	3.34	-3.65	0.04212	-2.673000	0.00914	-20.000000	0.00162	-1.216000	0.01345	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2913:0.2993:0.4094:0.0	5.679	0.17036	330	0.86467	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-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	1	0	0	0	0.02381	2413.98	34	chr6	150065536	.	C	T	2413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.110e-01;DP=934;ExcessHet=0.0000;FS=10.795;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=0.763;SOR=0.528	GT:AD:DP:GQ:PL	0/1:125,101:226:99:2428,0,3132	20	0	1	0
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3195.59	88	chr6	167976273	.	A	*,C	3195.59	.	AC=10,6;AF=0.250,0.150;AN=40;BaseQRankSum=0.163;DP=1063;ExcessHet=1.8260;FS=13.368;InbreedingCoeff=0.0227;MLEAC=10,5;MLEAF=0.250,0.125;MQ=55.81;MQRankSum=-3.188e+00;QD=4.92;ReadPosRankSum=0.937;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:20,0,37:57:99:.:.:872,931,1479,0,548,437	7	3	4	1
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|1:1,49,0:50:99:1|1:170561949_GCAA_G:1800,128,0,1804,151,1827:170561949	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|1:48,53,0,0:101:99:0|1:170561949_GCAA_G:1610,0,1533,1483,1576,4043,1483,1576,4043,4043:170561949	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	0/2:56,0,48:104:99:.:.:1341,1194,3168,0,1949,1771	1	1	3	2
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1537.51	38	chr7	290725	.	C	G	1537.51	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.014;DP=729;ExcessHet=15.6281;FS=215.903;InbreedingCoeff=-0.5582;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=3.11;ReadPosRankSum=0.300;SOR=10.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:15,15:35:99:.:.:126,0,279	5	0	14	2
chr7	849955	849955	G	A	exonic	SUN1	.	nonsynonymous SNV	SUN1:NM_001367639:exon5:c.G124A:p.A42T	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.014	B	0.0	B	0.165	N	1.000	N	.	.	2.39	T	-1.024	T	0.038	T	0.218	-0.226	2.907	0.205	-0.125	2.438	2.870	0.049	.	0.0031	0.00239617	0.0067	0.0026	0.0040	0.0014	0.0102	0.0098	0.0035	0.0002	0.004269	660	154602	rs139112134	0.0058	0.0058	0.0061	0.0056	0.0067	0.0057	0.0057	0.0066	0.0065	0.0010	0.0036	0.0043	0.0010	0.0079	0.0036	0.0067	0.0048	0.0001	0.0045	0.0045	0.0046	0.0043	0.0069	0.0042	0.0041	0.0064	0.0062	0.0014	0.0022	0.0035	0.0046	0.0010	0.0066	0	0.0069	0.0047	0.0002	0.415	0.09989	T	1.0	0.01155	T	.	.	.	.	.	.	0.165342	0.17535	N	0.611839	1	0.08975	N	.	.	.	2.38	0.15843	T	0.49	0.02993	N	0.096	0.07673	-1.0237	0.22508	T	0.038	0.16246	T	9	0.0041094124	0.00081	T	.	.	.	0.049	0.13647	.	.	0.0934897674506	0.08844	.	.	.	.	.	.	.	0.004223	0.03630	T	-0.611477	0.00124	T	-0.64009	0.09662	T	0.00293807058632349	0.00031	T	0.572243	0.20426	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.03026	B	.	.	0.732342	0.11018	7.674	0.22521139099281964	0.00910	0.01335	0.04597	N	AEFDGBI	0.018718	0.00590	N	-0.594202727281414	0.19119	0.9981886	-0.693961004178352	0.17111	0.9083649	0.073035079738982	0.15621	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.44	0.205	0.14481	2.216000	0.42511	2.012000	0.30169	-0.283000	0.06393	0.600000	0.27747	0.001000	0.17328	0.001000	0.02609	0.5626:0.1264:0.0696:0.2414	2.870	0.05270	895	0.25842	SUN domain-containing protein 1, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2156.98	33	chr7	849955	.	G	A	2156.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.085e+00;DP=883;ExcessHet=0.0000;FS=2.823;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=0.785;SOR=0.497	GT:AD:DP:GQ:PL	0/1:67,92:159:99:2171,0,1574	20	0	1	0
chr7	5312996	5312998	GAG	-	exonic	TNRC18	.	nonframeshift deletion	TNRC18:NM_001080495:exon27:c.7893_7895del:p.S2671del,	.	.	449	1069	3	0	1	4	0.00140121	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs762048914	0.0002	0.0001	0.0002	0.0001	0.0021	0.0001	0.0001	0.0009	0.0006	0.0003	0.0004	0	0	0	0.0021	0.0001	0.0005	0.0003	0.0001	0.0001	0.0001	0.0002	0.0003	9.552e-05	7.974e-05	0.0001	9.111e-05	0.0001	0	7.35e-05	0	0.0003	0	0	0.0002	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	391.94	31	chr7	5312995	.	AGAG	A	391.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.709;DP=680;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.07;ReadPosRankSum=-9.860e-01;SOR=0.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,11:26:99:0|1:5312995_AGAG_A:406,0,597:5312995	20	0	1	0
chr7	5313028	5313028	-	GAGGAT	exonic	TNRC18	.	nonframeshift insertion	TNRC18:NM_001080495:exon27:c.7862_7863insATCCTC:p.S2671_T2672insSS,	.	.	447	380	383	306	6	1001	0.566952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0170	0.0195	0.0098	0.0052	0	0.0151	0.0270	0.0187	0.0104591	1617	154602	rs768319122	0.0012	0.0023	0.0011	0.0012	0.0020	0.0011	0.0011	0.0017	0.0016	0.0001	0.0008	4.831e-05	0	0.0001	0	0.0013	0.0010	0.0020	0.0010	0.0029	0.0012	0.0008	0.0017	0.0009	0.0008	0.0014	0.0013	0.0004	0	0.0007	0	0.0004	0	0	0.0017	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	16164.21	33	chr7	5313028	.	G	T,GGAGGAT	16164.21	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-6.260e-01;DP=860;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=27,1;MLEAF=0.643,0.024;MQ=59.83;MQRankSum=0.00;QD=19.78;ReadPosRankSum=0.311;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,22,0:40:99:1|0:5312995_AGAG_A:870,0,684,924,751,1674:5312995	0	6	14	0
chr7	5370382	5370382	C	G	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon11:c.G4212C:p.E1404D,	.	.	426	1044	48	4	0	56	0.0261194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.176	B	0.07	B	0.272	N	1.000	N	2.045	M	2.46	T	-1.041	T	0.038	T	0.062	0.075	4.404	1.13	0.345	0.776	4.587	0.044	.	0.0015	0.00139776	0.0071	0.0013	0.0079	0.0021	0.0011	0.0036	0.0042	0.0152	0.0017141	265	154602	rs200279443	0.0032	0.0031	0.0027	0.0037	0.0167	0.0031	0.0031	0.0159	0.0156	0.0009	0.0027	0.0041	5.614e-05	0.0013	0.0148	0.0023	0.0041	0.0167	0.0022	0.0022	0.0021	0.0022	0.0116	0.0020	0.0019	0.0092	0.0083	0.0008	0.0264	0.0022	0.0035	0.0002	0.0009	0.0034	0.0022	0.0038	0.0116	0.164	0.23360	T	0.227	0.25362	T	0.176	0.28893	B	0.07	0.27859	B	0.272151	0.15107	N	0.487974	0.929546	0.27093	N	1.12	0.28775	L	2.46	0.15028	T	-1.8	0.42384	N	0.171	0.18239	-1.0408	0.17071	T	0.038	0.16246	T	10	0.002628386	0.00040	T	.	.	.	0.044	0.11924	0.539	0.65018	0.043077524339	0.03247	0.16282630156312533	0.16202	0.0415005756908	0.04460	0.483406841755	0.36525	T	0.026167	0.19419	T	-0.671544	0.00054	T	-0.723777	0.04615	T	0.00157307252166407	0.00016	T	0.593441	0.21910	T	0.04499418	0.07289	0.060470115	0.11521	0.04499418	0.07288	0.060470115	0.11521	-7.447	0.57236	T	.	.	0.082	0.08802	B	.;.	.;.	0.390632	0.07625	4.285	0.73719689406487532	0.10430	0.52518	0.29151	D	AEFGBI	0.177542	0.30479	N	-0.56368611205654	0.20057	1.054497	-0.584215349627881	0.19904	1.070019	0.00837838376043401	0.11664	0.706548	0.73137	0	0.577304	0.33150	0	0.576033	0.28219	0	0.714379	0.83352	0	.	.	4.72	1.13	0.19758	0.796000	0.26646	-1.176000	0.06110	-0.322000	0.05848	0.550000	0.27346	0.000000	0.08366	0.214000	0.22296	0.0:0.3876:0.3987:0.2137	4.587	0.11683	917	0.20147	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1278.98	56	chr7	5370382	.	C	G	1278.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.220;DP=1237;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=-3.830e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/1:76,54:130:99:1293,0,1990	20	0	1	0
chr7	7673314	7673319	AGCAGC	-	splicing	UMAD1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	16242.43	19	chr7	7673310	.	TAGCAGCAGC	T,TAGCAGCAGCAGC,TAGC,TAGCAGC,TAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	16242.43	.	AC=16,7,3,1,1,1;AF=0.381,0.167,0.071,0.024,0.024,0.024;AN=42;BaseQRankSum=0.257;DP=845;ExcessHet=4.5793;FS=1.329;InbreedingCoeff=-0.2255;MLEAC=16,7,3,1,1,1;MLEAF=0.381,0.167,0.071,0.024,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=28.25;ReadPosRankSum=-2.670e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/2:9,0,11,0,0,0,0:20:99:318,345,636,0,290,257,345,636,290,636,345,636,290,636,636,345,636,290,636,636,636,345,636,290,636,636,636,636	1	3	5	0
chr7	21894771	21894771	G	A	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon78:c.G12899A:p.R4300H,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	1	1515	6	0	0	6	0.00197628	.	.	229589	Primary_ciliary_dyskinesia|not_specified|Primary_ciliary_dyskinesia_7	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.08	T	0.75	P	0.318	B	0.000	N	0.993	D	.	.	2.89	T	-1.086	T	0.027	T	0.576	2.431	14.09	2.83	0.324	0.457	9.740	0.130	0.00540154496653	0.0002	0.000399361	0.0005	0.0002	0.0006	0	0	0.0003	0	0.0022	0.0004657	72	154602	rs377388499	0.0003	0.0003	0.0002	0.0003	0.0022	0.0003	0.0002	0.0020	0.0019	6.004e-05	0.0002	0	2.521e-05	1.874e-05	0.0021	0.0001	0.0003	0.0022	0.0003	0.0003	0.0003	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	0.0001	0	0.0003	0	0	0	0	0.0004	0	0.0021	0.002	0.72154	D	.	.	.	.	.	.	.	.	.	0.000007	0.62929	N	0.104170	0.992916	0.41780	D	.	.	.	2.89	0.10196	T	-3.92	0.73151	D	0.229	0.28965	-1.0863	0.06173	T	0.027	0.11485	T	9	0.010042906	0.00225	T	0.005402	0.13862	T	0.130	0.35528	.	.	0.247322355667	0.24350	0.3876008304815128	0.38675	.	.	0.246520906687	0.03410	T	0.209726	0.57002	T	-0.430524	0.01472	T	-0.397361	0.33691	T	0.0487815743853669	0.05284	T	0.822518	0.48242	T	0.1951857	0.41297	0.21421741	0.45963	0.19428328	0.41172	0.23337096	0.48523	-5.884	0.45299	T	0.4281443655002869	0.51574	0.089	0.12228	B	.;.;.	.;.;.	2.390271	0.30693	18.52	0.99597207696157319	0.73983	0.29028	0.23713	N	AEFBHI	0.241632	0.36322	N	-0.378700305676832	0.26229	1.429921	-0.476162998931966	0.22812	1.240914	0.0714775686266725	0.15568	0.651	0.46895	0	0.588066	0.40923	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.6	2.83	0.32150	0.400000	0.20657	1.242000	0.25113	0.676000	0.76740	0.000000	0.06391	0.376000	0.24592	0.299000	0.24476	0.2869:0.0:0.7131:0.0	9.740	0.39580	841	0.37094	Dynein heavy chain domain;Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	3165.98	36	chr7	21894771	.	G	A	3165.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.64;DP=949;ExcessHet=0.0000;FS=1.530;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=1.35;SOR=0.733	GT:AD:DP:GQ:PL	0/1:126,118:244:99:3180,0,3007	20	0	1	0
chr7	23781504	23781504	A	G	exonic	STK31	.	nonsynonymous SNV	STK31:NM_001260504:exon16:c.A1982G:p.H661R	.	.	449	1021	49	3	0	55	0.0262279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.182	N	0.989	N	0.46	N	1.58	T	-1.020	T	0.070	T	0.163	-1.497	0.017	-0.062	-0.017	0.944	10.015	0.064	.	0.0045	0.0103834	0.0079	0.0009	0.0026	0.0002	0.0003	0.0066	0.0111	0.0278	0.0073996	1144	154602	rs41273999	0.0060	0.0061	0.0053	0.0067	0.0278	0.0059	0.0059	0.0269	0.0265	0.0011	0.0030	0.0096	7.602e-05	0.0010	0.0209	0.0048	0.0079	0.0278	0.0042	0.0042	0.0038	0.0045	0.0263	0.0039	0.0038	0.0226	0.0212	0.0008	0	0.0044	0.0078	0	0.0005	0.0068	0.0053	0.0047	0.0263	0.662	0.04671	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.182217	0.17072	N	0.505693	0.988811	0.24368	N	0.49	0.13296	N	-0.15	0.65192	T	-0.35	0.12847	N	0.173	0.37301	-1.0199	0.23747	T	0.070	0.28708	T	10	0.0037102103	0.00068	T	.	.	.	0.064	0.18567	.	.	0.489938136499	0.48625	0.3644048311763441	0.36354	0.0671763946976	0.07503	0.306679606438	0.11405	T	7.55E-4	0.00354	T	-0.516774	0.00459	T	-0.494814	0.22886	T	0.000411108664880323	0.00003	T	0.60444	0.23473	T	0.040007167	0.05631	0.057216644	0.10363	0.040007167	0.05631	0.057216644	0.10362	-2.327	0.04705	T	.	.	0.054	0.00478	B	.;.;.	.;.;.	1.417616	0.18337	13.68	0.17921150690072041	0.00542	0.43593	0.27132	N	AEFI	0.079134	0.15977	N	-0.806970563940849	0.13132	0.644779	-0.670014664965709	0.17712	0.9430189	1.64631360154252E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.07	-0.0622	0.13113	0.959000	0.28838	0.915000	0.22659	0.691000	0.84096	0.997000	0.40164	0.408000	0.24745	0.927000	0.46353	0.4894:0.0:0.5106:0.0	10.015	0.41180	606	0.67383	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2548.11	111	chr7	23781504	.	A	G	2548.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.268;DP=897;ExcessHet=0.1072;FS=1.015;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=2.34;SOR=0.796	GT:AD:DP:GQ:PL	0/1:58,61:119:99:1343,0,1401	19	0	2	0
chr7	27094575	27094578	ACCC	-	exonic	HOXA1	.	frameshift deletion	HOXA1:NM_005522:exon2:c.870_873del:p.E290Dfs*41,	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	2015.4	153	chr7	27094574	.	GACCC	G	2015.4	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-1.128e+00;DP=1455;ExcessHet=1.1607;FS=134.511;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=2.43;ReadPosRankSum=1.51;SOR=10.150	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:151,44:195:99:.:.:722,0,5678	16	0	5	0
chr7	27094578	27094578	-	GGGG	exonic	HOXA1	.	frameshift insertion	HOXA1:NM_005522:exon2:c.869_870insCCCC:p.E290Dfs*128,	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1814.7	153	chr7	27094578	.	C	CGGGG	1814.7	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.330e+00;DP=1572;ExcessHet=1.1607;FS=125.938;InbreedingCoeff=-0.1507;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=2.28;ReadPosRankSum=1.71;SOR=9.967	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:148,17:181:99:.:.:536,0,5654	15	0	5	1
chr7	27095695	27095695	C	0	exonic	HOXA1	.	.	.	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	13	23	341	1132	13	2618	0.982648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	87514.16	141	chr7	27095695	.	C	T,*	87514.16	.	AC=39,2;AF=0.929,0.048;AN=42;BaseQRankSum=2.30;DP=3040;ExcessHet=0.0000;FS=1.549;InbreedingCoeff=-0.0244;MLEAC=39,2;MLEAF=0.929,0.048;MQ=60.00;MQRankSum=0.00;QD=30.42;ReadPosRankSum=-1.188e+00;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,47,63:110:99:1|0:27095694_GCGA_G:5080,2740,2494,1597,0,1777:27095694	0	18	1	0
chr7	31338589	31338589	T	A	exonic	NEUROD6	.	nonsynonymous SNV	NEUROD6:NM_022728:exon2:c.A680T:p.N227I,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.97	D	0.637	P	0.000	D	0.999	D	1.245	L	-0.07	T	-0.747	T	0.238	T	0.495	2.644	14.80	5.32	2.008	3.746	15.287	0.085	0.0232416539031	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1408050579	8.209e-06	8.209e-06	5.445e-06	1.1e-05	1.079e-05	4.38e-06	3.46e-06	5.75e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.045	0.49390	D	0.97	0.56973	D	0.637	0.51992	P	0.000025	0.55875	D	0.185932	0.999324	0.46670	D	1.39	0.34934	L	-0.07	0.63738	T	-1.87	0.43717	N	0.552	0.57775	-0.7467	0.58107	T	0.238	0.60535	T	10	0.40667796	0.55941	T	0.023242	0.46189	T	0.085	0.24743	0.224	0.14813	0.336933722576	0.33308	0.4450242264169589	0.44420	1.80813242872	0.91769	0.660258293152	0.61446	T	0.110493	0.42523	T	-0.0103677	0.50215	T	-0.237183	0.51074	T	0.931255519390106	0.59650	D	0.867413	0.56831	D	0.36024645	0.57854	0.49528614	0.70811	0.36024645	0.57854	0.49528614	0.70811	-2.869	0.08837	T	.	.	0.128	0.27222	B	.	.	4.079016	0.60664	24.2	0.9885676210650387	0.47390	0.91708	0.54095	D	AEDBIJ	0.638115	0.61665	D	0.379826576135101	0.60329	4.220722	0.427359095948114	0.63275	4.558104	0.48778042313255	0.20837	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.32	5.32	0.75377	3.754000	0.54903	5.138000	0.47694	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.287	0.73540	889	0.27310	Neurogenic differentiation factor, domain of unknown function	.	.	.	.	.	Uncertain significance	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	2264.98	33	chr7	31338589	.	T	A	2264.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.069;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.71;ReadPosRankSum=0.804;SOR=0.687	GT:AD:DP:GQ:PL	0/1:72,82:154:99:2279,0,1937	20	0	1	0
chr7	43624718	43624718	C	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon7:c.C1121G:p.T374S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.013	B	0.006	B	0.033	N	1.000	D	0.205	N	-0.19	T	-1.042	T	0.109	T	0.182	2.035	12.76	3.72	0.900	6.175	12.521	0.074	0.0106320113374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13045	T	0.317	0.19304	T	0.013	0.16609	B	0.006	0.12133	B	0.032718	0.24992	N	0.277746	0.998147	0.22327	N	2.075	0.57047	M	-0.19	0.65931	T	0.48	0.03041	N	0.064	0.03613	-1.0419	0.16741	T	0.109	0.39392	T	10	0.115400106	0.21741	T	0.010632	0.27388	T	0.074	0.21613	0.163	0.06730	0.613747831775	0.61063	0.2658683285844839	0.26499	0.239766953823	0.26521	0.495270937681	0.38170	T	0.009004	0.08229	T	-0.0823907	0.39325	T	-0.356125	0.38501	T	0.750056266784668	0.43288	D	.	.	.	0.12240565	0.28764	0.066225044	0.13534	0.12240565	0.28764	0.066225044	0.13534	-5.001	0.36851	T	.	.	0.181	0.39305	B	.	.	3.389122	0.46917	22.4	0.9659045393350808	0.30369	0.93177	0.57526	D	AEFGBCI	0.709470	0.66354	D	-0.372321133435478	0.26460	1.444228	-0.16957771568949	0.32663	1.86049	0.99999999377476	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.723	0.93126	0	.	.	4.61	3.72	0.41857	6.248000	0.72374	4.362000	0.43121	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9177:0.0:0.0823	12.521	0.55405	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1842	462.95	111	chr7	43624718	.	C	G	462.95	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.585e+00;DP=2195;ExcessHet=2.5830;FS=236.492;InbreedingCoeff=-0.2524;MLEAC=7;MLEAF=0.184;MQ=60.00;MQRankSum=0.00;QD=0.67;ReadPosRankSum=0.806;SOR=12.602	GT:AD:DP:GQ:PL	0/1:92,33:137:17:17,0,1725	12	0	7	2
chr7	43800512	43800512	G	A	exonic	BLVRA	.	nonsynonymous SNV	BLVRA:NM_000712:exon6:c.G400A:p.A134T	Hyperbiliverdinemia, Autosomal recessive, Autosomal dominant	.	0	1499	22	1	0	24	0.00794176	.	.	2117910	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.2	T	0.007	B	0.002	B	0.000	D	0.989	N	0.69	N	1.96	T	-1.047	T	0.030	T	0.15	2.239	13.44	3.53	1.406	3.449	6.838	0.052	0.00158489144956	0.0009	0.00119808	0.0014	0.0004	0	0.0005	0	0.0008	0	0.0065	0.0012225	189	154602	rs149777705	0.0009	0.0009	0.0007	0.0011	0.0070	0.0008	0.0008	0.0065	0.0063	0.0001	0.0002	7.653e-05	2.519e-05	0	0.0043	0.0005	0.0008	0.0070	0.0008	0.0008	0.0007	0.0008	0.0068	0.0006	0.0006	0.0050	0.0044	0.0004	0	0.0003	0	0	0	0.0102	0.0008	0.0009	0.0068	0.201	0.20306	T	0.106	0.37872	T	0.007	0.14184	B	0.002	0.06944	B	0.000017	0.62929	D	0.148180	0.988626	0.24389	N	0.895	0.22405	L	1.96	0.22270	T	-0.34	0.12661	N	0.174	0.18649	-1.0470	0.15246	T	0.030	0.12848	T	10	0.008343786	0.00189	T	0.001585	0.02523	T	0.052	0.14661	.	.	0.336892272479	0.33291	0.21129465543673692	0.21045	0.198753139644	0.22255	0.58534014225	0.50838	T	0.025684	0.19158	T	-0.532842	0.00370	T	-0.535278	0.18762	T	0.0120343098674384	0.00190	T	0.774123	0.40598	T	0.091147415	0.21350	0.07763785	0.17315	0.103402965	0.24441	0.101527795	0.24308	-4.616	0.32372	T	.	.	0.084	0.10208	B	.;.	.;.	3.536429	0.49643	22.8	0.99356288992233344	0.60820	0.60002	0.31072	D	AEFBI	0.145683	0.26894	N	-0.19555428789303	0.33318	1.888954	-0.0146671438037346	0.39051	2.309696	0.0205481302936694	0.13268	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.36	3.53	0.39533	3.428000	0.52560	5.140000	0.47705	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.267:0.0:0.733:0.0	6.838	0.23130	774	0.48577	Biliverdin reductase, catalytic;Biliverdin reductase, catalytic	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.04762	2095.11	34	chr7	43800512	.	G	A	2095.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-7.400e-02;DP=847;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=-7.000e-03;SOR=0.693	GT:AD:DP:GQ:PL	0/1:56,47:103:99:1050,0,1356	19	0	2	0
chr7	47829595	47829595	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565G:p.L2189V,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.067	B	0.015	B	0.801	N	1.000	N	1.43	L	2.05	T	-0.987	T	0.034	T	0.157	1.299	10.25	-2.48	-0.557	-1.200	0.856	0.025	0.00127835857952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.06381	T	0.161	0.31326	T	0.067	0.23653	B	0.015	0.17295	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.32	0.33002	L	2.05	0.20664	T	-0.76	0.21215	N	0.077	0.05162	-0.9874	0.33249	T	0.034	0.14683	T	10	0.047335982	0.04037	T	0.001278	0.01759	T	0.025	0.05312	0.437	0.48993	0.0884992946249	0.08302	0.058640025517176016	0.05805	0.097110365055	0.10970	0.267502307892	0.05817	T	0.053076	0.29342	T	-0.296889	0.08955	T	-0.664237	0.07983	T	0.0382535461650476	0.03377	T	0.442656	0.12286	T	0.04340317	0.06758	0.03085182	0.01594	0.04340317	0.06758	0.03085182	0.01594	-2.84	0.08557	T	0.18439717788962887	0.23915	0.085	0.10352	B	.	.	0.333476	0.07071	3.643	0.89928721472256545	0.19227	0.00981	0.03737	N	AEFDBI	0.033246	0.03905	N	-0.949154353178447	0.09711	0.4608325	-1.01287491586493	0.09502	0.4730853	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3214	2133.35	105	chr7	47829595	.	G	C,A	2133.35	.	AC=7,2;AF=0.250,0.071;AN=28;BaseQRankSum=-2.833e+00;DP=2292;ExcessHet=4.7172;FS=204.617;InbreedingCoeff=-0.4243;MLEAC=9,3;MLEAF=0.321,0.107;MQ=60.00;MQRankSum=0.00;QD=2.36;ReadPosRankSum=0.440;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:83,7,21:111:99:.:.:137,347,2378,0,1942,2062	5	0	7	7
chr7	47829595	47829595	G	A	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565T:p.L2189F,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.325	B	0.037	B	0.801	N	1.000	N	1.43	L	1.99	T	-1.014	T	0.032	T	0.13	3.478	17.80	-2.48	-0.557	-1.200	0.856	0.011	0.00242358400914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.156	0.31833	T	0.325	0.33132	B	0.037	0.23121	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.67	0.42885	L	1.99	0.21666	T	-1.12	0.28906	N	0.071	0.04426	-1.0143	0.25561	T	0.032	0.13635	T	10	0.06819993	0.09611	T	0.002424	0.04757	T	0.011	0.01250	0.462	0.53079	0.0806252709748	0.07271	0.07619938893513355	0.07555	0.119333337301	0.13438	0.287016183138	0.08490	T	0.119498	0.44106	T	-0.313121	0.07477	T	-0.687553	0.06531	T	0.07061240769398	0.08737	T	0.506949	0.16072	T	0.03793613	0.04957	0.059033968	0.11012	0.03793613	0.04957	0.059033968	0.11011	-5.256	0.39506	T	0.3493390781858841	0.44665	0.093	0.14108	B	.	.	0.478457	0.08477	5.239	0.99599511188636891	0.74101	0.00455	0.02200	N	AEFDBI	0.023300	0.01279	N	-0.856956854539942	0.11880	0.5757883	-0.946628518479765	0.11002	0.5577856	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3214	2133.35	105	chr7	47829595	.	G	C,A	2133.35	.	AC=7,2;AF=0.250,0.071;AN=28;BaseQRankSum=-2.833e+00;DP=2292;ExcessHet=4.7172;FS=204.617;InbreedingCoeff=-0.4243;MLEAC=9,3;MLEAF=0.321,0.107;MQ=60.00;MQRankSum=0.00;QD=2.36;ReadPosRankSum=0.440;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:83,7,21:111:99:.:.:137,347,2378,0,1942,2062	5	0	7	7
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.995	D	0.547	P	0.460	N	1.000	N	1.39	L	2.15	T	-1.059	T	0.048	T	0.465	2.843	15.47	1.54	0.218	0.068	6.370	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	5979.44	105	chr7	47829596	.	G	C,A	5979.44	.	AC=17,3;AF=0.425,0.075;AN=40;BaseQRankSum=-3.700e-02;DP=2719;ExcessHet=43.6797;FS=321.470;InbreedingCoeff=-0.9530;MLEAC=18,3;MLEAF=0.450,0.075;MQ=60.00;MQRankSum=0.00;QD=2.79;ReadPosRankSum=-7.300e-02;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:65,22,21:108:99:.:.:281,113,959,0,785,1835	0	0	17	1
chr7	56081068	56081068	C	T	exonic	PHKG1	.	nonsynonymous SNV	PHKG1:NM_001258460:exon10:c.G1123A:p.E375K	.	.	.	.	.	.	.	.	.	.	.	2363036	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.8	T	0.659	P	0.056	B	0.000	D	0.641	N	1.04	L	-0.39	T	-0.805	T	0.158	T	0.495	2.220	13.38	5.53	2.775	2.627	12.365	0.176	0.0148383491553	0.0002	0.000199681	1.69e-05	0	0	0	0	3.092e-05	0	0	1.94e-05	3	154602	rs141230469	3.288e-05	3.283e-05	3.271e-05	3.304e-05	0.0002	2.546e-05	2.252e-05	2.743e-05	2.469e-05	0	2.236e-05	0	5.038e-05	0	0.0002	3.688e-05	3.319e-05	1.16e-05	3.282e-05	3.28e-05	5.138e-05	1.342e-05	7.349e-05	1.26e-05	7.97e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0	0.177	0.22224	T	0.28	0.21678	T	0.024	0.19075	B	0.002	0.06944	B	0.000002	0.62929	D	0.000000	0.640541	0.30620	N	0.805	0.20218	L	-0.39	0.70133	T	-0.54	0.16598	N	0.265	0.46462	-0.8055	0.54819	T	0.158	0.49145	T	10	0.12806153	0.24358	T	0.014838	0.35215	T	0.176	0.44373	.	.	0.829930217576	0.82831	0.36636849806460503	0.36550	0.279714035493	0.30458	0.451523125172	0.32152	T	0.209141	0.56927	T	-0.105683	0.35482	T	-0.220455	0.52694	T	0.261633038520813	0.23386	T	0.873013	0.58094	D	0.28238803	0.51276	0.31458065	0.57449	0.28238803	0.51276	0.31458065	0.57448	-3.026	0.12938	T	.	.	0.094	0.24532	B	.;.;.	.;.;.	2.941677	0.39111	20.9	0.99484853622796265	0.67124	0.85645	0.44800	D	AEFDBCI	0.414298	0.48362	N	-0.166676967676434	0.34528	1.971849	0.0115187221338831	0.40250	2.399042	0.973092576119285	0.29426	0.421363	0.06395	0	0.379588	0.06130	0	0.536957	0.11973	0	0.322989	0.05693	1	.	.	5.53	5.53	0.82530	2.676000	0.46550	.	.	0.599000	0.40250	0.984000	0.35821	1.000000	0.68203	0.215000	0.22324	0.0:0.9199:0.0:0.0801	12.365	0.54554	629	0.65079	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1757.98	41	chr7	56081068	.	C	T	1757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.78;DP=846;ExcessHet=0.0000;FS=0.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.89;MQRankSum=0.00;QD=13.22;ReadPosRankSum=1.34;SOR=0.780	GT:AD:DP:GQ:PL	0/1:70,63:133:99:1772,0,1700	20	0	1	0
chr7	57126056	57126056	T	C	exonic	ZNF479	.	nonsynonymous SNV	ZNF479:NM_001370129:exon3:c.A224G:p.Q75R	.	.	452	1018	47	5	0	57	0.0272336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.0	B	0.001	B	.	.	1.000	N	-0.8	N	3.31	T	-0.939	T	0.005	T	0.128	-0.088	3.569	-0.203	-0.341	-0.863	3.929	0.018	.	0.0055	0.00339457	0.0058	0.0017	0.0068	0.0002	0.0021	0.0068	0.0114	0.0077	0.0049094	759	154602	rs199932939	0.0053	0.0053	0.0050	0.0056	0.0246	0.0052	0.0051	0.0213	0.0201	0.0016	0.0076	0.0126	0	0.0023	0.0246	0.0049	0.0072	0.0091	0.0048	0.0048	0.0044	0.0053	0.0085	0.0045	0.0044	0.0064	0.0059	0.0015	0	0.0055	0.0101	0.0002	0.0035	0.0238	0.0066	0.0104	0.0085	0.054	0.38633	T	0.122	0.36630	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.84	0.01504	N	3.31	0.06291	T	-0.77	0.21429	N	0.138	0.13626	-0.9389	0.42790	T	0.005	0.01578	T	9	0.005461186	0.00120	T	.	.	.	0.018	0.03083	.	.	0.119812018005	0.11559	0.015442727878878133	0.01500	0.937583356376	0.72088	0.343715667725	0.16993	T	0.006166	0.16623	T	-0.698216	0.00037	T	-0.770166	0.02763	T	0.00105148513774967	0.00010	T	0.0993901	0.01432	T	0.017931126	0.00316	0.03834946	0.03684	0.017931126	0.00316	0.03834946	0.03684	-0.546	0.00612	T	.	.	0.070	0.05668	B	.;.;.	.;.;.	0.618681	0.09873	6.632	0.7000091064038827	0.09153	0.00021	0.00226	N	AEFI	0.013016	0.00159	N	-1.51131193355416	0.01775	0.0777514	-1.55381002604836	0.01950	0.08900711	1.12376233501182E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.25	-0.203	0.12555	0.387000	0.20445	.	.	-0.978000	0.01909	0.003000	0.16062	0.000000	0.08366	0.000000	0.00833	0.0:0.6961:0.0:0.3039	3.929	0.08776	952	0.10565	Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2066.98	34	chr7	57126056	.	T	C	2066.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.432e+00;DP=891;ExcessHet=0.0000;FS=6.009;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.56;MQRankSum=0.552;QD=10.49;ReadPosRankSum=1.90;SOR=0.408	GT:AD:DP:GQ:PL	0/1:99,98:197:99:2081,0,2309	20	0	1	0
chr7	73597302	73597302	G	A	exonic	MLXIPL	.	nonsynonymous SNV	MLXIPL:NM_032951:exon9:c.C1483T:p.P495S	.	.	402	1105	13	2	0	17	0.00763359	.	.	711104	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.077	N	0.983	N	0.695	N	2.52	T	-1.084	T	0.069	T	0.124	2.893	15.64	1.11	0.372	1.475	2.629	0.081	.	.	0.00559105	0.0078	0	0.0009	0	0	0.0004	0.0078	0.0560	0.0032729	506	154602	rs368147395	0.0018	0.0019	0.0010	0.0027	0.0286	0.0018	0.0017	0.0276	0.0272	3.053e-05	2.536e-05	0.0045	2.586e-05	0	0.0012	2.578e-05	0.0022	0.0286	0.0010	0.0010	0.0006	0.0015	0.0270	0.0009	0.0009	0.0232	0.0218	4.856e-05	0	6.589e-05	0.0058	0.0004	0	0.0034	2.947e-05	0	0.0270	0.0	0.91255	D	0.131	0.37730	T	0.969	0.68779	D	0.829	0.79672	P	0.076904	0.21135	N	0.430280	0.983435	0.24884	N	2.125	0.59049	M	2.51	0.23283	T	-1.17	0.29933	N	0.189	0.20660	-1.0840	0.06591	T	0.069	0.28147	T	10	0.0030032694	0.00049	T	.	.	.	0.081	0.23632	.	.	0.182106788282	0.17826	0.3149813321233919	0.31411	0.0963186625916	0.10868	0.477796912193	0.35754	T	0.039069	0.25061	T	-0.549449	0.00294	T	-0.539024	0.18393	T	0.0555859859478633	0.06454	T	0.713029	0.32612	T	0.09517895	0.22395	0.07232947	0.15590	0.09517895	0.22395	0.07232947	0.15590	-4.548	0.31512	T	.	.	0.087	0.11941	B	.;.;.;.;.	.;.;.;.;.	2.558262	0.33127	19.25	0.99824324060117509	0.90677	0.72846	0.35643	D	AEFDBCI	0.353582	0.44595	N	0.146426265662712	0.48642	3.074054	0.0982920687004272	0.44464	2.727589	0.0045435966677102	0.10609	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.34	1.11	0.19640	0.593000	0.23700	0.947000	0.22895	0.575000	0.29119	0.736000	0.28985	0.998000	0.33993	0.973000	0.55318	0.1078:0.1839:0.5194:0.1889	2.629	0.04640	900	0.24599	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2330.11	40	chr7	73597302	.	G	A	2330.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.038;DP=943;ExcessHet=0.1072;FS=1.904;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=2.06;SOR=0.884	GT:AD:DP:GQ:PL	0/1:38,36:74:99:1003,0,1113	19	0	2	0
chr7	74748018	74748018	-	TAA	exonic	GTF2I	.	nonframeshift insertion	GTF2I:NM_001518:exon22:c.1949_1950insTAA:p.N654_P655insN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	.	.	.	0	.	0	3.84e-05	1	26028	rs782320436	0.0027	0.0011	0.0012	0.0039	0.0130	0.0024	0.0023	0.0118	0.0113	0	0	0	0	0	0	4.949e-05	0.0010	0.0130	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	69.94	1	chr7	74748018	.	C	CTAA	69.94	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.967;DP=55;ExcessHet=0.0000;FS=4.771;InbreedingCoeff=-0.1163;MLEAC=1;MLEAF=0.028;MQ=30.82;MQRankSum=0.431;QD=23.31;ReadPosRankSum=0.00;SOR=2.225	GT:AD:DP:GQ:PL	0/1:1,2:3:36:81,0,36	17	0	1	3
chr7	76235214	76235214	G	A	exonic	SRRM3	.	nonsynonymous SNV	SRRM3:NM_001110199:exon2:c.G148A:p.A50T	.	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.968	D	0.000	D	0.973	D	0.895	L	.	.	-0.459	T	0.269	T	0.334	4.725	26.3	4.63	2.153	4.486	16.119	0.188	0.0636122733647	.	0.00159744	0.0018	0	0.0019	0	0	0	0	0.0043	0.0003881	60	154602	rs530430404	0.0002	0.0002	0.0001	0.0003	0.0040	0.0002	0.0002	0.0037	0.0035	0	2.689e-05	0	0	0	0	9.179e-07	0.0002	0.0040	0.0001	0.0001	8.992e-05	0.0001	0.0035	7.084e-05	5.742e-05	0.0022	0.0018	0	0	0	0	0	0	0	0	0	0.0035	.	.	.	0.126	0.35205	T	.	.	.	.	.	.	0.000218	0.47681	D	0.000000	0.972798	0.38974	D	.	.	.	.	.	.	.	.	.	0.312	0.35194	-0.4590	0.70101	T	0.269	0.64077	T	9	0.00849843	0.00193	T	0.063612	0.69022	D	.	.	.	.	0.043077524339	0.03247	0.6580226204664619	0.65739	.	.	0.845474243164	0.88930	D	.	.	.	-0.341831	0.05262	T	-0.265898	0.48233	T	0.11180255689443	0.13608	T	0.940606	0.77652	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.731	0.74249	P	.	.	5.301380	0.89001	29.8	0.99902204930454752	0.97350	0.80550	0.40158	D	ALL	0.555854	0.56612	D	0.474456436466931	0.65603	4.84333	0.46750038872442	0.65848	4.875949	0.999999999998584	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.239995	0.05000	1	0.603991	0.37454	0	.	.	4.63	4.63	0.57175	4.645000	0.61100	9.667000	0.81209	0.525000	0.24333	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:0.0:1.0:0.0	16.119	0.81135	716	0.55970	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2271.11	40	chr7	76235214	.	G	A	2271.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.81;DP=836;ExcessHet=0.1072;FS=0.578;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.93;ReadPosRankSum=1.12;SOR=0.760	GT:AD:DP:GQ:PL	0/1:44,40:84:99:930,0,856	19	0	2	0
chr7	90229904	90229904	G	T	exonic	STEAP2	.	nonsynonymous SNV	STEAP2:NM_001244945:exon4:c.G1053T:p.E351D	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.999	D	0.997	D	0.000	D	0.982	D	1.445	L	-2.87	D	0.411	D	0.750	D	0.249	3.461	17.73	1.67	0.423	0.760	11.776	0.442	0.0241795455926	.	.	8.252e-05	0	0	0	0	0	0	0.0006	6.47e-05	10	154602	rs759796385	3.08e-05	3.078e-05	1.498e-05	4.679e-05	0.0005	2.348e-05	2.096e-05	0.0004	0.0003	0	0	0	0	0	0.0003	0	0	0.0005	1.314e-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	0.098	0.31532	T	0.231	0.25670	T	0.934	0.52202	P	0.788	0.57636	P	0.000000	0.84330	D	0.000000	0.98184	0.39823	D	1.725	0.44537	L	-2.87	0.91478	D	-1.02	0.26843	N	0.39	0.43320	0.411	0.89269	D	0.750	0.91472	D	10	0.18577349	0.34012	T	0.02418	0.47165	T	0.442	0.74518	0.316	0.29258	0.929001798407	0.92828	0.4605691904556926	0.45974	0.0844667912105	0.09542	0.529595971107	0.42977	T	0.277937	0.70838	T	-0.225256	0.17281	T	-0.200547	0.54595	T	0.185976162552834	0.19604	T	0.820918	0.48005	T	0.18629204	0.40030	0.18504782	0.41594	0.18629204	0.40030	0.18504782	0.41594	-5.612	0.43506	T	.	.	0.383	0.59860	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.881597	0.38135	20.7	0.99787336386596037	0.87308	0.75724	0.37091	D	AEFDGBHCI	0.227227	0.35107	N	0.268860440555326	0.54578	3.622996	0.236788518000428	0.51900	3.36879	0.999991548925086	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.93	1.67	0.23149	0.801000	0.26716	2.084000	0.30511	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.37:0.0:0.63:0.0	11.776	0.51255	675	0.60470	Ferric reductase transmembrane component-like domain;Ferric reductase transmembrane component-like domain;Ferric reductase transmembrane component-like domain;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	1246.98	34	chr7	90229904	.	G	T	1246.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.018;DP=808;ExcessHet=0.0000;FS=2.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=-5.330e-01;SOR=0.970	GT:AD:DP:GQ:PL	0/1:58,50:108:99:1261,0,1449	20	0	1	0
chr7	92070930	92070930	C	T	exonic	AKAP9	.	nonsynonymous SNV	AKAP9:NM_001379277:exon7:c.C1178T:p.A393V	.	.	6	1514	2	0	0	2	0.000660066	.	.	2429361	Cardiovascular_phenotype	MedGen:CN230736	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.037	B	0.034	B	0.286	N	0.999	N	1.1	L	3.99	T	-0.946	T	0.011	T	0.172	2.260	13.51	3.84	0.848	0.877	7.827	0.039	0.0100025413468	.	.	9.904e-05	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs772182187	4.995e-05	4.994e-05	1.362e-05	8.664e-05	0.0008	4.059e-05	3.734e-05	0.0007	0.0006	0	0	0	0	0	0.0002	8.995e-07	1.656e-05	0.0008	6.6e-06	6.575e-06	0	1.352e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.05	0.39575	D	0.266	0.22627	T	.	.	.	.	.	.	0.285616	0.14864	N	0.558433	0.999899	0.19781	N	.	.	.	3.99	0.03675	T	-1.74	0.41239	N	0.164	0.32921	-0.9457	0.41698	T	0.011	0.03949	T	10	0.024367362	0.00668	T	0.010003	0.26012	T	0.039	0.10176	.	.	0.310458034454	0.30648	0.06797565765847301	0.06735	0.0551435369125	0.06106	0.303374767303	0.10906	T	0.320929	0.69207	T	-0.504533	0.00539	T	-0.57549	0.14949	T	0.0472948989401995	0.05017	T	0.827917	0.50011	T	0.07877316	0.17960	0.09574423	0.22719	0.07877316	0.17960	0.09574423	0.22719	-3.616	0.18088	T	.	.	0.088	0.11701	B	.;.;.;.	.;.;.;.	2.029381	0.25788	16.89	0.97448431610943609	0.34017	0.33980	0.24959	N	AEFBI	0.130143	0.24858	N	-0.47704850414265	0.22836	1.222064	-0.369294124160989	0.25918	1.428314	0.588427356757512	0.21627	0.732398	0.92422	0	0.724815	0.89359	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.65	3.84	0.43422	0.897000	0.28022	1.193000	0.24780	0.599000	0.40250	0.038000	0.20882	0.600000	0.25714	0.994000	0.71098	0.0:0.7262:0.1344:0.1394	7.827	0.28483	364	0.84707	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	674.98	34	chr7	92070930	.	C	T	674.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.390;DP=642;ExcessHet=0.0000;FS=1.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=-3.450e-01;SOR=0.769	GT:AD:DP:GQ:PL	0/1:19,26:45:99:689,0,442	20	0	1	0
chr7	92097077	92097077	C	A	exonic	AKAP9	.	nonsynonymous SNV	AKAP9:NM_001379277:exon20:c.C4763A:p.S1588Y	.	.	0	1516	6	0	0	6	0.00197498	.	.	188458	not_provided|Congenital_long_QT_syndrome|Long_QT_syndrome|Cardiovascular_phenotype|Long_QT_syndrome_11|not_specified	MedGen:C3661900|MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736|MONDO:MONDO:0012738,MedGen:C2678483,OMIM:611820,Orphanet:101016,Orphanet:768|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.984	D	0.834	P	0.001	D	1.000	D	2.14	M	3.92	T	-1.190	T	0.036	T	0.458	2.389	13.95	4.67	2.776	1.679	10.875	0.156	0.0184676071563	0.0016	0.000599042	0.0015	0.0004	0.0002	0	0.0002	0.0011	0.0022	0.0061	0.0014359	222	154602	rs140470576	0.0015	0.0015	0.0013	0.0017	0.0068	0.0015	0.0014	0.0064	0.0062	0.0003	0.0002	0	2.519e-05	0.0004	0.0014	0.0014	0.0009	0.0068	0.0007	0.0007	0.0007	0.0008	0.0056	0.0006	0.0006	0.0039	0.0034	0.0001	0	0.0003	0	0	0.0002	0	0.0011	0.0009	0.0056	0.002	0.72154	D	0.338	0.18125	T	.	.	.	.	.	.	0.000911	0.41128	D	0.000000	0.919289	0.36630	D	.	.	.	3.9	0.03754	T	-3.27	0.67129	D	0.42	0.66358	-1.1904	0.00237	T	0.036	0.15334	T	10	0.0063156486	0.00143	T	0.018468	0.40544	T	0.156	0.40720	.	.	0.56468994859	0.56133	0.2724779982248035	0.27160	0.387895152768	0.40057	0.509882092476	0.40206	T	0.450511	0.79160	T	-0.441602	0.01266	T	-0.404078	0.32910	T	0.0539701249258138	0.06184	T	0.906909	0.71149	D	0.3017448	0.53060	0.36231387	0.61639	0.26991272	0.50063	0.37765428	0.62860	-4.781	0.34369	T	.	.	0.311	0.56251	B	.;.;.	.;.;.	3.869932	0.56179	23.7	0.9663424934339846	0.30527	0.91473	0.53605	D	AEFBI	0.308095	0.41478	N	0.569068034077492	0.71249	5.622477	0.56806353923655	0.72661	5.845525	0.0192822032185984	0.13147	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.56	4.67	0.58089	0.700000	0.25278	3.930000	0.40529	0.599000	0.40250	0.887000	0.31133	0.999000	0.35428	0.995000	0.73285	0.0:0.7967:0.1318:0.0715	10.875	0.46112	323	0.86843	.;.;.	.	.	.	.	.	Likely benign	0	0	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	1861.98	33	chr7	92097077	.	C	A	1861.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.312e+00;DP=849;ExcessHet=0.0000;FS=8.894;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=1.11;SOR=1.351	GT:AD:DP:GQ:PL	0/1:74,70:144:99:1876,0,2084	20	0	1	0
chr7	92491337	92491337	T	A	exonic	PEX1	.	nonsynonymous SNV	PEX1:NM_001282677:exon20:c.A3202T:p.M1068L	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	.	1	1517	3	1	0	5	0.00164528	.	.	307030	Zellweger_spectrum_disorders|PEX1-related_disorder|Heimler_syndrome_1|not_provided|Peroxisome_biogenesis_disorder_1A_(Zellweger)	MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|.|MedGen:C4551980,OMIM:234580,Orphanet:3220|MedGen:C3661900|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.11	T	0.016	B	0.012	B	0.000	D	1.000	D	1.355	L	-3.21	D	0.056	D	0.653	D	0.354	2.919	15.73	3.02	0.991	2.388	9.518	0.304	0.0619099012312	0.0012	0.000199681	0.0011	0.0003	8.654e-05	0	0.0002	0.0012	0.0011	0.0033	0.0011255	174	154602	rs142994610	0.0014	0.0014	0.0013	0.0015	0.0042	0.0014	0.0014	0.0038	0.0037	0.0002	8.944e-05	0	0	0.0004	0.0012	0.0015	0.0009	0.0042	0.0007	0.0007	0.0007	0.0007	0.0037	0.0006	0.0006	0.0024	0.0020	0.0002	0	0.0002	0	0	0.0002	0	0.0011	0.0009	0.0037	0.024	0.47745	D	0.195	0.28032	T	0.007	0.14184	B	0.009	0.14300	B	0.000068	0.52346	D	0.233626	0.841472	0.35074	D	1.085	0.27262	L	-3.21	0.93587	D	-1.19	0.30346	N	0.273	0.40765	0.056	0.83354	D	0.653	0.87931	D	10	0.014987916	0.00315	T	0.06191	0.68485	D	0.304	0.62510	0.415	0.45380	0.695104319578	0.69247	0.4695382514306108	0.46872	0.14842254782	0.16736	0.406937927008	0.26033	T	0.051648	0.35865	T	-0.211481	0.19172	T	-0.0777098	0.65072	T	0.0175408729895588	0.00488	T	0.775622	0.40735	T	0.13179052	0.30707	0.1972771	0.43502	0.15422188	0.34918	0.16939329	0.38969	-1.677	0.03490	T	0.19053127695279345	0.24965	0.154	0.49855	B	.;.;.	.;.;.	2.706781	0.35375	19.88	0.94144736665623285	0.24337	0.95947	0.66845	D	AEFBI	0.468269	0.51514	N	-0.221882819568338	0.32237	1.815899	-0.0754813125908206	0.36406	2.118335	0.0394880515344295	0.14396	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.4	3.02	0.33970	2.370000	0.43893	2.368000	0.32412	0.609000	0.47794	1.000000	0.71638	0.998000	0.33993	0.992000	0.67800	0.0:0.1443:0.0:0.8557	9.518	0.38282	733	0.53988	.;.;.	.	.	.	.	.	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	1480.98	36	chr7	92491337	.	T	A	1480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=852;ExcessHet=0.0000;FS=2.029;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.37;ReadPosRankSum=0.769;SOR=0.544	GT:AD:DP:GQ:PL	0/1:96,62:158:99:1495,0,2514	20	0	1	0
chr7	92517375	92517375	C	G	exonic	PEX1	.	nonsynonymous SNV	PEX1:NM_000466:exon5:c.G1140C:p.K380N	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.363	B	0.075	B	0.019	N	1.000	N	1.04	L	-3.4	D	-0.359	T	0.603	D	0.122	0.897	8.644	3.12	0.389	0.619	4.650	0.109	0.0475338403156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.17584	T	0.336	0.25061	T	0.363	0.33965	B	0.075	0.28327	B	0.019306	0.27286	N	0.456434	1	0.08975	N	2.045	0.56016	M	-3.4	0.94469	D	-1.55	0.37566	N	0.155	0.17691	-0.3587	0.73301	T	0.603	0.85889	D	10	0.08887786	0.15343	T	0.047534	0.62965	D	0.109	0.30843	0.401	0.43081	0.716802317414	0.71431	0.3910058426918759	0.39015	0.186505350035	0.20959	0.336459964514	0.15907	T	0.062784	0.36043	T	-0.00308928	0.51229	T	-0.242214	0.50583	T	0.312265932559967	0.25507	T	0.59684	0.22875	T	0.09054874	0.21191	0.05573271	0.09829	0.09054874	0.21190	0.05573271	0.09828	-3.984	0.23563	T	0.11421790710218607	0.10084	0.114	0.29367	B	.;.	.;.	0.689255	0.10580	7.285	0.99365745136551376	0.61198	0.16758	0.19535	N	AEFBI	0.121693	0.23648	N	-0.700700529756348	0.16002	0.8114796	-0.702350992884245	0.16902	0.8963152	0.234847843809107	0.18506	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.94	3.12	0.34986	0.347000	0.19760	0.241000	0.16308	0.599000	0.40250	0.025000	0.20085	0.001000	0.17328	0.697000	0.34049	0.2559:0.5066:0.0:0.2375	4.650	0.11978	798	0.45050	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.1923	826.23	74	chr7	92517375	.	C	T,G	826.23	.	AC=4,1;AF=0.154,0.038;AN=26;BaseQRankSum=-3.290e+00;DP=1775;ExcessHet=1.1607;FS=208.468;InbreedingCoeff=-0.2780;MLEAC=6,1;MLEAF=0.231,0.038;MQ=60.00;MQRankSum=0.00;QD=1.39;ReadPosRankSum=0.648;SOR=9.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:105,24,2:131:99:.:.:262,0,3194,525,3226,3894	8	0	4	8
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.278	B	0.057	B	0.039	N	0.999	N	0.55	N	2.78	T	-1.004	T	0.025	T	0.135	-1.573	0.014	0.721	0.204	1.133	8.086	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	1784.86	153	chr7	93102964	.	C	G	1784.86	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-6.633e+00;DP=3581;ExcessHet=9.6308;FS=118.636;InbreedingCoeff=-0.4288;MLEAC=12;MLEAF=0.286;MQ=60.00;MQRankSum=0.00;QD=0.78;ReadPosRankSum=0.355;SOR=12.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:192,25:225:77:.:.:77,0,7251	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	0/1:192,35:227:99:.:.:150,0,7248	2	0	19	0
chr7	93131578	93131578	C	T	exonic	SAMD9L	.	nonsynonymous SNV	SAMD9L:NM_001303500:exon4:c.G4394A:p.R1465H	Ataxia-pancytopenia syndrome, Autosomal dominant	.	434	1085	3	0	0	3	0.00138058	.	.	750842	Inborn_genetic_diseases|not_provided|not_specified	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.003	B	0.002	B	0.077	N	1.000	N	-1.525	N	2.0	T	-0.981	T	0.011	T	0.033	-0.757	0.796	-4.74	-0.820	-0.332	3.663	0.015	.	.	0.00219649	0.0016	0	0.0002	0.0005	0	0	0.0011	0.0113	0.0013648	211	154602	rs190393069	0.0007	0.0007	0.0004	0.0010	0.0111	0.0007	0.0007	0.0106	0.0103	5.977e-05	4.474e-05	0	0.0003	0	0.0007	6.296e-06	0.0008	0.0111	0.0004	0.0004	0.0002	0.0006	0.0110	0.0003	0.0003	0.0086	0.0078	0	0	6.547e-05	0	0.0002	0	0	1.47e-05	0.0005	0.0110	1.0	0.00964	T	0.352	0.17372	T	0.003	0.11197	B	0.002	0.06944	B	0.076975	0.02312	N	1.925070	1	0.08975	N	-0.66	0.02073	N	2.0	0.21473	T	1.79	0.00519	N	0.035	0.01658	-0.9809	0.34794	T	0.011	0.04227	T	10	0.0028817654	0.00046	T	.	.	.	0.015	0.02232	.	.	0.222439326576	0.21863	0.0675288426742765	0.06690	0.228233673395	0.25376	0.187215164304	0.00180	T	0.003324	0.02728	T	-0.731631	0.00023	T	-0.814318	0.01571	T	0.00431698737644493	0.00046	T	0.286271	0.08016	T	0.015490705	0.00141	0.02167845	0.00211	0.02061566	0.00626	0.021816667	0.00221	-3.885	0.26228	T	0.08852680020532623	0.05315	0.078	0.13876	B	.;.;.;.	.;.;.;.	-0.631676	0.01487	0.093	0.37381915144333516	0.02460	0.00660	0.02859	N	AEFBI	0.071223	0.14170	N	-1.68615706722313	0.00892	0.03860802	-1.60293300808144	0.01638	0.07431818	0.00156878722735161	0.08647	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.22	-4.74	0.03013	-1.138000	0.03327	-2.557000	0.03611	-0.394000	0.05329	0.000000	0.06391	0.000000	0.08366	0.842000	0.39752	0.1079:0.1396:0.2132:0.5393	3.663	0.07783	810	0.42761	.;.;.;.	.	.	.	.	.	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	2859.98	36	chr7	93131578	.	C	T	2859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.54;DP=1090;ExcessHet=0.0000;FS=4.775;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=0.248;SOR=0.923	GT:AD:DP:GQ:PL	0/1:104,102:206:99:2874,0,2587	20	0	1	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	0/1:91,40:148:50:50,0,1752	13	0	8	0
chr7	94618810	94618810	C	T	exonic	SGCE	.	nonsynonymous SNV	SGCE:NM_001301139:exon4:c.G487A:p.A163T	Dystonia-11, myoclonic, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.997	D	0.000	D	1.000	D	2.08	M	-4.87	D	1.103	D	0.959	D	0.716	4.714	26.2	5.66	2.834	7.818	20.112	0.810	0.184234258342	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868284377	1.368e-06	1.368e-06	1.361e-06	1.375e-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	1.315e-05	1.313e-05	2.57e-05	0	2.414e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.72154	D	0.016	0.74150	D	0.997	0.77913	D	0.988	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	-4.87	0.98279	D	-3.5	0.68999	D	0.943	0.96302	1.103	0.99778	D	0.959	0.98690	D	10	0.94150186	0.93476	D	0.184234	0.85736	D	0.810	0.93854	0.834	0.94231	0.925314684063	0.92455	0.9194902772778509	0.91925	0.739026755692	0.63142	0.876112878323	0.93430	D	0.856585	0.99873	D	0.366	0.87718	D	0.288244	0.87560	D	0.960983252037279	0.65956	D	0.954805	0.84924	D	0.40985584	0.61409	0.5000297	0.71094	0.40985584	0.61409	0.5000297	0.71095	-3.323	0.14748	T	0.6096051003111664	0.67711	0.953	0.87214	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.962489	0.82058	27.7	0.99938938791288123	0.99734	0.98178	0.80279	D	AEFDBI	0.919254	0.88950	D	0.758595953127545	0.83464	8.024213	0.713632478803501	0.83413	8.015257	1.0	0.98316	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.66	5.66	0.87293	7.905000	0.86479	7.725000	0.67498	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.751000	0.35822	0.0:1.0:0.0:0.0	20.112	0.97914	615	0.66512	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	66.98	38	chr7	94618810	.	C	T	66.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.591e+00;DP=875;ExcessHet=0.0000;FS=42.254;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.73;ReadPosRankSum=0.253;SOR=5.619	GT:AD:DP:GQ:PL	0/1:69,23:92:81:81,0,1630	20	0	1	0
chr7	99715815	99715815	C	T	exonic	CYP3A7;CYP3A7-CYP3A51P	.	nonsynonymous SNV	CYP3A7:NM_000765:exon7:c.G613A:p.E205K	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.0	B	0.002	B	0.140	N	1.000	N	-0.125	N	-0.23	T	-1.011	T	0.085	T	0.094	0.329	5.786	-2.14	-0.215	-0.401	5.793	0.053	0.0174488889623	.	0.000199681	0.0002	0	0	0	0	0	0	0.0016	0.0001746	27	154602	rs546078547	0.0001	0.0001	5.582e-05	0.0002	0.0017	9.2e-05	8.666e-05	0.0015	0.0014	2.989e-05	0	0	0	0	0.0002	8.994e-07	3.313e-05	0.0017	3.941e-05	4.593e-05	1.285e-05	6.716e-05	0.0010	1.715e-05	1.129e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.471e-05	0	0.0010	0.625	0.05229	T	0.873	0.03898	T	0.0	0.02946	B	0.002	0.06944	B	0.139832	0.18330	N	0.607393	1	0.08975	N	0.205	0.09354	N	-0.23	0.66652	T	-0.62	0.18248	N	0.204	0.22614	-1.0107	0.26698	T	0.085	0.33071	T	10	0.008140326	0.00185	T	0.017449	0.39153	T	0.053	0.14996	0.462	0.53079	0.391156786388	0.38726	0.552410353801837	0.55167	0.14433657637	0.16299	0.251646697521	0.03943	T	0.089586	0.38404	T	-0.564966	0.00237	T	-0.591575	0.13530	T	0.00609747600469235	0.00067	T	0.867113	0.56785	D	0.04523192	0.07368	0.08623859	0.19965	0.04523192	0.07368	0.08623859	0.19965	-8.335	0.63331	D	.	.	0.130	0.28578	B	.;.;.	.;.;.	0.453715	0.08239	4.977	0.68865164819364721	0.08791	0.01294	0.04502	N	AEFI	0.117126	0.22958	N	-1.47198821166534	0.02050	0.09010059	-1.47632035261607	0.02539	0.1169761	0.00729051426291692	0.11429	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	4.22	-2.14	0.06725	-0.361000	0.07664	-6.717000	0.01324	-0.306000	0.06133	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.2175:0.1907:0.5918	5.793	0.17637	87	0.96348	.;.;.	.	.	.	.	.	Uncertain significance	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	2793.98	34	chr7	99715815	.	C	T	2793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.09;DP=964;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.82;MQRankSum=-4.310e-01;QD=10.54;ReadPosRankSum=-6.720e-01;SOR=0.680	GT:AD:DP:GQ:PL	0/1:159,106:265:99:2808,0,4259	20	0	1	0
chr7	99967247	99967247	C	T	exonic	AZGP1	.	nonsynonymous SNV	AZGP1:NM_001185:exon4:c.G653A:p.G218E,	.	.	433	1077	12	0	0	12	0.00554017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.846	P	0.229	B	0.393	N	1.000	N	0.49	N	2.49	T	-1.002	T	0.017	T	0.14	1.440	10.76	-0.812	-0.107	0.806	5.776	0.065	0.00326016925302	0.0004	0.00139776	0.0012	0	0.0004	0	0	0.0004	0.0012	0.0067	0.0009961	154	154602	rs143279151	0.0007	0.0007	0.0006	0.0009	0.0066	0.0007	0.0007	0.0062	0.0060	0	0.0002	0.0007	2.52e-05	0.0002	0.0029	0.0004	0.0008	0.0066	0.0005	0.0005	0.0004	0.0006	0.0052	0.0004	0.0004	0.0036	0.0031	4.814e-05	0	6.54e-05	0	0	9.418e-05	0	0.0007	0.0005	0.0052	0.135	0.26192	T	0.397	0.15157	T	0.846	0.46778	P	0.229	0.38155	B	0.392890	0.13231	N	0.560804	1	0.08975	N	1.33	0.33268	L	2.49	0.14531	T	-1.04	0.27259	N	0.19	0.20793	-1.0017	0.29430	T	0.017	0.06807	T	10	0.005653262	0.00125	T	0.00326	0.07207	T	0.065	0.18881	.	.	0.183819452728	0.17975	0.23778752301862838	0.23692	0.626820738551	0.56799	0.284866601229	0.08181	T	0.043265	0.26446	T	-0.646846	0.00076	T	-0.699453	0.05855	T	0.0137905264553222	0.00260	T	0.385761	0.09460	T	0.14184114	0.32666	0.10176026	0.24369	0.14184114	0.32665	0.10176026	0.24368	-2.768	0.07892	T	.	.	0.107	0.20117	B	.	.	1.068956	0.14510	11.08	0.97325039628899845	0.33394	0.02164	0.06352	N	AEFDBI	0.168694	0.29548	N	-0.795793124756428	0.13420	0.6609288	-0.972459195986191	0.10407	0.5239265	7.08160034787942E-4	0.07666	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	2.34	-0.812	0.10306	-0.181000	0.09734	0.198000	0.15820	0.450000	0.21304	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.3528:0.0:0.6472	5.776	0.17542	158	0.93861	Immunoglobulin C1-set|Immunoglobulin-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1351.98	33	chr7	99967247	.	C	T	1351.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.09;MQRankSum=0.575;QD=13.13;ReadPosRankSum=0.861;SOR=0.677	GT:AD:DP:GQ:PL	0/1:53,50:103:99:1366,0,1372	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|1:74,64:138:99:0|1:100175805_G_C:1565,0,2331:100175805	0	0	21	0
chr7	100399831	100399831	C	T	exonic	PILRA	.	nonsynonymous SNV	PILRA:NM_178272:exon6:c.C617T:p.S206L	.	.	431	1049	39	3	0	45	0.0209986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	B	0.099	B	0.006	N	1.000	N	1.04	L	0.65	T	-1.067	T	0.042	T	0.125	1.648	11.47	2.46	0.431	0.902	5.521	0.051	.	0.0118	0.00559105	0.0113	0.0020	0.0019	0.0001	0.0088	0.0147	0.0067	0.0173	0.0106661	1649	154602	rs34266222	0.0099	0.0099	0.0096	0.0101	0.0176	0.0097	0.0097	0.0169	0.0166	0.0015	0.0022	0.0518	0	0.0092	0.0080	0.0092	0.0113	0.0176	0.0083	0.0083	0.0083	0.0082	0.0160	0.0079	0.0077	0.0131	0.0120	0.0020	0.0022	0.0032	0.0547	0	0.0084	0.0136	0.0109	0.0085	0.0160	0.113	0.91255	T	0.243	0.34837	T	0.053	0.29046	B	0.019	0.30579	B	0.005733	0.32555	N	0.000000	1	0.08975	N	1.355	0.33814	L	0.65	0.52642	T	-1.96	0.45404	N	0.161	0.19995	-1.0669	0.10108	T	0.042	0.17869	T	9	0.0024999976	0.00038	T	.	.	.	0.051	0.14325	.	.	.	.	0.11323491982903096	0.11251	0.176822401337	0.19894	0.318505644798	0.13194	T	0.02106	0.16467	T	-0.536475	0.00352	T	-0.529105	0.19376	T	0.00560833987177457	0.00061	T	0.605339	0.22755	T	0.033658035	0.03627	0.044622328	0.05823	0.033658035	0.03627	0.044622328	0.05823	-3.657	0.18685	T	.	.	0.086	0.10787	B	.;.	.;.	1.285668	0.16857	12.81	0.89942232312080983	0.19239	0.05843	0.11786	N	AEFDBI	0.026036	0.01885	N	-1.08455630630354	0.06927	0.3203013	-1.08829502313267	0.07930	0.3877462	0.96931527846712	0.29119	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.24	2.46	0.29032	0.917000	0.28286	1.313000	0.25551	-0.997000	0.01825	0.035000	0.20724	0.179000	0.23406	0.001000	0.02609	0.1586:0.6712:0.0:0.1703	5.521	0.16222	450	0.79359	.;.	.	.	.	.	rs34266222	Uncertain significance	0	0	0	0	0	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	2059.98	33	chr7	100399831	.	C	T	2059.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.276e+00;DP=864;ExcessHet=0.0000;FS=2.739;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=-8.230e-01;SOR=0.645	GT:AD:DP:GQ:PL	0/1:82,81:163:99:2074,0,2153	20	0	1	0
chr7	100589673	100589673	C	-	exonic	FBXO24	.	frameshift deletion	FBXO24:NM_012172:exon1:c.33delC:p.Q12Kfs*41,	.	.	365	1155	2	0	0	2	0.000865052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.463e-06	1.368e-06	1.435e-06	1.492e-06	.	2.4e-07	9e-08	.	.	0	0	0	0	2.055e-05	0	0	1.771e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	936.94	34	chr7	100589672	.	GC	G	936.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.009e+00;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.44;ReadPosRankSum=1.84;SOR=0.725	GT:AD:DP:GQ:PL	0/1:27,30:57:99:951,0,830	20	0	1	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	2|2:0,0,138:138:99:1|1:100773849_CCAT_C:6190,6190,6190,415,415,0:100773849	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	1|1:0,140,0:140:99:1|1:100773849_CCAT_C:6253,421,0,6253,421,6253:100773849	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|1:514,165,164:843:62:0|1:100952942_T_G:5381,0,21086,62,14717,21151:100952942	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|1:796,128,0:924:99:0|1:100953014_G_A:2979,0,33039,5375,33424,38799:100953014	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|2:434,60,125:619:99:0|1:100953098_G_C:3942,2729,20772,0,15704,17847:100953098	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	0/1:426,121,37:602:99:3798,0,17523,3527,16334,21303	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	0/1:349,39,33:421:99:.:.:534,0,14845,245,13146,15068	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	0/1:409,179,0:722:99:.:.:6706,0,16591,7937,17174,25111	0	0	19	0
chr7	100953490	100953490	G	0	exonic	MUC3A	.	.	.	.	.	745	492	219	17	49	302	0.204527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	36352.82	833	chr7	100953490	.	G	T,*	36352.82	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=-2.232e+00;DP=18586;ExcessHet=36.0830;FS=0.000;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.405,0.048;MQ=57.38;MQRankSum=-1.467e+01;QD=2.05;ReadPosRankSum=5.58;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:818,118,0:936:99:0|1:100953486_C_A:2493,0,33961,4955,34317,39271:100953486	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|1:849,80,0:929:99:0|1:100953471_A_C:673,0,35068,3228,35309,38537:100953471	7	0	10	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	0/1:855,151,0:1006:99:.:.:3767,0,35420,6340,35874,42215	3	0	15	0
chr7	100955012	100955012	G	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.G3233A:p.R1078K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.317e-06	0.0001	4.898e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	3.939e-05	0	8.995e-06	0.0019	0	1.83e-05	0.0003	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	.	.	.	0.126	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.01740	.	.	.	.	.	.	.	0.07244828	0.10815	T	.	.	.	.	.	.	.	.	.	0.042076156409536575	0.04152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251175	0.03802	T	.	.	.	.	.	.	.	.	-6.363	0.49220	T	.	.	0.154	0.34049	B	.;.	.;.	0.226431	0.06082	2.525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.247000	0.03004	-9.307000	0.00838	-0.269000	0.06763	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	24713.07	719	chr7	100955012	.	G	C,A	24713.07	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-1.062e+00;DP=13307;ExcessHet=17.4423;FS=13.525;InbreedingCoeff=-0.5721;MLEAC=14,1;MLEAF=0.333,0.024;MQ=56.37;MQRankSum=-1.052e+01;QD=2.42;ReadPosRankSum=0.662;SOR=2.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:581,85,0:666:99:0|1:100954953_T_A:1820,0,24140,3569,24396,27965:100954953	6	0	14	0
chr7	100955586	100955586	T	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	47603.67	377	chr7	100955586	.	T	A,*	47603.67	.	AC=14,3;AF=0.350,0.075;AN=40;BaseQRankSum=-3.380e+00;DP=9878;ExcessHet=25.1139;FS=6.754;InbreedingCoeff=-0.7143;MLEAC=14,3;MLEAF=0.350,0.075;MQ=57.66;MQRankSum=-1.812e+01;QD=5.71;ReadPosRankSum=-7.510e-01;SOR=1.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:435,125,0:560:99:0|1:100955555_C_T:3939,0,17889,5249,18266,23514:100955555	3	0	14	1
chr7	100955587	100955587	G	0	exonic	MUC3A	.	.	.	.	.	948	292	244	32	6	314	0.345291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	46737.11	377	chr7	100955587	.	G	C,*	46737.11	.	AC=14,3;AF=0.350,0.075;AN=40;BaseQRankSum=0.104;DP=9885;ExcessHet=25.1139;FS=6.502;InbreedingCoeff=-0.7143;MLEAC=14,3;MLEAF=0.350,0.075;MQ=57.65;MQRankSum=-1.817e+01;QD=5.55;ReadPosRankSum=-6.860e-01;SOR=1.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:436,125,0:561:99:0|1:100955555_C_T:3936,0,17931,5249,18308,23556:100955555	3	0	14	1
chr7	100955917	100955917	G	0	exonic	MUC3A	.	.	.	.	.	766	657	81	4	14	103	0.0634355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	30532.88	499	chr7	100955917	.	G	C,*	30532.88	.	AC=10,3;AF=0.278,0.083;AN=36;BaseQRankSum=-1.985e+00;DP=19448;ExcessHet=11.8493;FS=4.100;InbreedingCoeff=-0.5273;MLEAC=11,3;MLEAF=0.306,0.083;MQ=56.33;MQRankSum=-1.229e+01;QD=2.43;ReadPosRankSum=2.52;SOR=1.144	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:940,212,0:1152:99:0|1:100955912_C_T:6072,0,38832,8902,39470,48372:100955912	5	0	10	3
chr7	100955959	100955959	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A4180G:p.T1394A,	.	.	768	680	56	1	17	75	0.0409027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175400681	7.904e-05	0.0004	3.921e-05	0.0001	0.0008	5.602e-05	4.861e-05	0.0005	0.0004	0	5.076e-05	0.0003	0	0	0	2.158e-05	0.0001	0.0008	0.0006	0.0032	0.0006	0.0006	0.0031	0.0005	0.0005	0.0019	0.0015	0.0002	0.0025	0.0014	0.0009	0	9.978e-05	0.0040	0.0006	0.0020	0.0031	.	.	.	0.216	0.26306	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.11744994	0.22181	T	.	.	.	.	.	.	.	.	.	0.03036875277365848	0.02985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260974	0.04439	T	.	.	.	.	.	.	.	.	-7.243	0.55789	T	.	.	0.110	0.21125	B	.;.	.;.	0.622094	0.09905	6.665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465000	0.21715	-2.074000	0.04252	0.688000	0.82842	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4048	23255.17	557	chr7	100955959	.	ACC	A,GCC	23255.17	.	AC=15,2;AF=0.357,0.048;AN=42;BaseQRankSum=3.10;DP=16785;ExcessHet=25.1139;FS=4.174;InbreedingCoeff=-0.6800;MLEAC=15,2;MLEAF=0.357,0.048;MQ=57.02;MQRankSum=-1.169e+01;QD=1.66;ReadPosRankSum=-1.368e+00;SOR=1.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:812,100,0:912:99:0|1:100955908_C_T:1755,0,33795,4199,34096,38295:100955908	4	0	15	0
chr7	100958135	100958135	T	0	exonic	MUC3A	.	.	.	.	.	80	0	58	87	1	233	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	24112.57	1331	chr7	100958135	.	T	C,*	24112.57	.	AC=11,1;AF=0.611,0.056;AN=18;BaseQRankSum=-1.492e+00;DP=16684;ExcessHet=5.3821;FS=1.190;InbreedingCoeff=0.0278;MLEAC=20,2;MLEAF=1.00,0.111;MQ=59.22;MQRankSum=-1.577e+00;QD=17.65;ReadPosRankSum=1.06;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:81,98,0:179:99:.:.:2181,0,2000,2422,2291,4713	0	3	5	12
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	87422.78	564	chr7	100960582	.	T	A,*	87422.78	.	AC=15,6;AF=0.357,0.143;AN=42;BaseQRankSum=0.858;DP=12953;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=15,6;MLEAF=0.357,0.143;MQ=60.00;MQRankSum=0.00;QD=6.90;ReadPosRankSum=0.163;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:406,112,124:642:99:0|1:100960582_T_A:5472,423,16754,0,13506,16312:100960582	0	0	15	0
chr7	100994332	100994332	C	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C3769A:p.P1257T,	.	.	955	564	2	1	0	4	0.00353357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	.	.	.	.	.	.	1.000	N	0	N	2.48	T	-0.982	T	0.018	T	0.072	-0.944	0.353	-0.69	-0.357	-2.331	3.763	0.016	.	.	0.000998403	0.0121	0	0	0	0	0	0	0.0273	0.0001921	5	26028	rs547313482	0.0010	0.0007	0.0006	0.0015	0.0135	0.0010	0.0010	0.0126	0.0123	0.0001	0	0	0	0	0.0017	0.0001	0.0006	0.0135	0.0006	0.0004	0	0.0013	0.0254	0.0004	0.0004	0.0179	0.0154	0	0	0	0	0	0	0	3.988e-05	0	0.0254	0.268	0.16144	T	0.084	0.41239	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.975	0.24501	L	2.48	0.14783	T	-0.31	0.12099	N	0.03	0.01135	-0.9819	0.34561	T	0.018	0.07706	T	7	0.0038413107	0.00073	T	.	.	.	0.016	0.02506	0.139	0.04277	0.0401082797425	0.02173	0.003824477920115496	0.00358	.	.	0.505482077599	0.39592	T	0.002909	0.02309	T	-0.52578	0.00407	T	-0.80134	0.01869	T	0.00622041473207226	0.00069	T	0.373163	0.08852	T	0.03307861	0.03456	0.043670386	0.05483	0.03307861	0.03455	0.043670386	0.05483	-6.811	0.52641	T	.	.	0.134	0.29088	B	.;.	.;.	0.826476	0.11977	8.537	0.36194981064846504	0.02315	0.00111	0.00708	N	AEFI	0.036619	0.04908	N	-1.0677552779539	0.07244	0.3359142	-1.26294764009368	0.04941	0.2343246	1.29486472340696E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.481	-0.69	0.10741	-1.465000	0.02463	-3.050000	0.03106	-0.732000	0.03721	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3501:0.0:0.6498	3.763	0.08136	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.06667	3846.06	34	chr7	100994332	.	C	A	3846.06	.	AC=2;AF=0.067;AN=30;DP=445;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5229;MLEAC=3;MLEAF=0.100;MQ=36.44;QD=24.92;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,86:86:99:1|1:100994332_C_A:3866,259,0:100994332	14	1	0	6
chr7	100994333	100994333	C	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C3770A:p.P1257H,	.	.	952	567	2	1	0	4	0.00351494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	N	0	N	2.44	T	-0.998	T	0.020	T	0.141	-0.730	0.877	0.713	0.673	0.364	3.071	0.066	.	.	0.000998403	0.0121	0	0	0	0	0	0	0.0275	0.0001921	5	26028	rs565859559	0.0011	0.0007	0.0006	0.0016	0.0135	0.0010	0.0010	0.0126	0.0123	0.0001	0	0	0	0	0.0017	0.0001	0.0006	0.0135	0.0006	0.0004	0	0.0012	0.0253	0.0004	0.0004	0.0178	0.0154	0	0	0	0	0	0	0	3.981e-05	0	0.0253	0.002	0.72154	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.975	0.24501	L	2.44	0.15261	T	-1.5	0.36586	N	0.078	0.05287	-0.9976	0.30590	T	0.020	0.08593	T	7	0.004235536	0.00085	T	.	.	.	0.066	0.19193	0.132	0.03662	0.149567049428	0.14543	0.0038821372414133675	0.00364	.	.	0.503758072853	0.39351	T	0.003253	0.02657	T	-0.435161	0.01381	T	-0.671824	0.07492	T	0.0368080220796572	0.03123	T	0.329867	0.06895	T	0.09555348	0.22489	0.101211056	0.24223	0.09555348	0.22489	0.101211056	0.24223	-8.455	0.64131	D	.	.	0.236	0.47016	B	.;.	.;.	1.601073	0.20470	14.76	0.46275365916339445	0.03694	0.00854	0.03405	N	AEFI	0.040384	0.06000	N	-0.832598821860392	0.12483	0.6087178	-1.00264680829362	0.09727	0.4856046	1.29810242774381E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.713	0.713	0.17330	-0.431000	0.07034	-0.744000	0.07606	0.282000	0.18639	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6678:0.0:0.3321	3.071	0.05853	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.06667	3846.06	34	chr7	100994333	.	C	A	3846.06	.	AC=2;AF=0.067;AN=30;DP=450;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5229;MLEAC=3;MLEAF=0.100;MQ=36.62;QD=26.81;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,86:86:99:1|1:100994332_C_A:3866,259,0:100994332	14	1	0	6
chr7	100996153	100996153	G	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G5590C:p.V1864L,	.	.	788	732	2	0	0	2	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	.	.	.	.	.	.	1.000	N	0	N	2.73	T	-0.980	T	0.013	T	0.14	-1.369	0.026	-0.944	-1.647	-1.921	.	0.064	0.00770671566112	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1305733286	0.0014	0.0076	0.0015	0.0014	0.0017	0.0014	0.0013	0.0016	0.0016	0.0002	0.0006	0.0003	0	0.0004	0.0013	0.0017	0.0008	0.0007	0.0017	0.0069	0.0018	0.0014	0.0026	0.0015	0.0014	0.0018	0.0017	0.0004	0.0038	0.0025	0.0013	0	0.0023	0	0.0021	0.0019	0.0026	0.668	0.04588	T	0.177	0.33219	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.73	0.11839	T	-0.43	0.14390	N	0.077	0.05162	-0.9800	0.35002	T	0.013	0.04890	T	6	0.016234547	0.00342	T	0.007707	0.20457	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.00941262599498134	0.00904	.	.	0.534649372101	0.43689	T	0.004547	0.03958	T	-0.350214	0.04714	T	-0.740834	0.03856	T	0.00857765827161554	0.00105	T	0.191481	0.02052	T	0.073849864	0.16532	0.066425376	0.13606	0.073849864	0.16532	0.066425376	0.13605	-0.292	0.00641	T	.	.	0.186	0.40229	B	.;.	.;.	-0.959578	0.00830	0.028	0.21294105380996659	0.00805	0.00056	0.00418	N	AEFI	0.018039	0.00516	N	-1.50142002448653	0.01841	0.08071402	-1.6866193745322	0.01197	0.05391158	9.20458990407013E-5	0.04910	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	0.472	-0.944	0.09862	-0.480000	0.06639	.	.	-2.019000	0.00436	0.000000	0.06391	.	.	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	128.78	34	chr7	100996153	.	G	C	128.78	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.377e+00;DP=731;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0794;MLEAC=3;MLEAF=0.071;MQ=36.10;MQRankSum=0.493;QD=1.03;ReadPosRankSum=-2.360e-01;SOR=0.055	GT:AD:DP:GQ:PL	0/1:45,6:51:34:34,0,1562	18	0	3	0
chr7	101004493	101004493	C	G	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C13930G:p.P4644A,	.	.	497	958	63	4	0	71	0.0357323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	.	.	.	.	.	.	1.000	N	0	N	2.51	T	-0.955	T	0.009	T	0.059	-1.867	0.008	-0.261	-1.311	-0.634	.	0.011	.	0.0046	0.00479233	0.0145	0.0024	0.0118	0	0.0123	0.0076	0.0474	0.0250	0.0032273	84	26028	rs111307353	0.0069	0.0067	0.0061	0.0076	0.0280	0.0067	0.0067	0.0270	0.0267	0.0010	0.0041	0.0033	0.0003	0.0116	0.0251	0.0056	0.0066	0.0280	0.0056	0.0058	0.0049	0.0063	0.0213	0.0053	0.0051	0.0179	0.0166	0.0011	0	0.0024	0.0038	0.0006	0.0153	0.0214	0.0067	0.0117	0.0213	0.143	0.25355	T	0.911	0.02952	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.51	0.14284	T	-0.14	0.16393	N	0.015	0.02088	-0.9552	0.40060	T	0.009	0.03096	T	6	0.0037515461	0.00070	T	.	.	.	0.011	0.01250	.	.	.	.	0.0013067610022922437	0.00120	.	.	0.444512039423	0.31193	T	0.006206	0.05647	T	-0.726623	0.00025	T	-0.796248	0.01998	T	0.0023018370117503	0.00024	T	0.213379	0.02617	T	0.02942691	0.02434	0.0741683	0.16195	0.02942691	0.02434	0.0741683	0.16195	1.834	0.00060	T	.	.	0.064	0.02609	B	.;.	.;.	-0.677403	0.01374	0.078	0.1196446150949034	0.00195	0.00081	0.00551	N	AEFBI	0.023841	0.01386	N	-1.4625874373199	0.02120	0.0932634	-1.63058557593802	0.01479	0.06695312	4.06484876756422E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.131	-0.261	0.12322	-0.330000	0.07968	.	.	-1.011000	0.01765	0.000000	0.06391	.	.	0.001000	0.02609	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	7175.11	67	chr7	101004493	.	C	G	7175.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.03;DP=1739;ExcessHet=0.1072;FS=5.133;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=53.35;MQRankSum=1.33;QD=12.70;ReadPosRankSum=1.10;SOR=0.449	GT:AD:DP:GQ:PL	0/1:134,163:297:99:4124,0,3369	19	0	2	0
chr7	101006477	101006477	G	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon3:c.G14963T:p.C4988F,	.	.	423	1086	13	0	0	13	0.00594966	.	.	2826021	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.004	U	1.000	N	0.805	L	1.47	T	0.902	D	0.930	D	0.898	0.012	4.076	2.83	1.541	3.268	9.762	0.531	0.618071323826	.	0.00119808	0.0043	0	0	0	0	0.0007	0.0045	0.0098	0.0006209	96	154602	rs555137488	0.0008	0.0008	0.0006	0.0011	0.0094	0.0008	0.0008	0.0088	0.0086	3.166e-05	0.0004	0.0004	0	2.858e-05	0.0061	0.0003	0.0010	0.0094	0.0005	0.0005	0.0004	0.0006	0.0075	0.0004	0.0004	0.0055	0.0049	0.0001	0	0.0005	0.0017	0	9.418e-05	0	0.0003	0.0009	0.0075	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.003841	0.34414	U	0.000000	1	0.08975	N	1.87	0.49600	L	-5.93	0.99452	D	-7.14	0.94758	D	0.616	0.75742	0.902	0.95695	D	0.930	0.97676	D	8	0.027742267	0.00915	T	0.618071	0.96685	D	0.531	0.80247	.	.	0.582828786496	0.57955	0.4040606043396441	0.40322	.	.	0.411843717098	0.26711	T	0.067262	0.33158	T	0.133226	0.67674	D	0.42627	0.92939	D	0.121136840750695	0.14540	T	0.269973	0.04523	T	0.81543064	0.84914	0.725981	0.83814	0.81543064	0.84915	0.725981	0.83815	-9.377	0.70091	D	.	.	0.935	0.85467	P	.;.	.;.	2.446749	0.31499	18.76	0.61464251856208296	0.06715	0.26942	0.23137	N	AEFBI	0.149320	0.27339	N	-0.340929966810357	0.27607	1.516022	-0.452273794028015	0.23484	1.280957	4.11484181190949E-4	0.06899	0.553676	0.25195	0	0.588015	0.36545	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	2.83	2.83	0.32150	3.302000	0.51557	5.265000	0.48134	0.597000	0.34315	0.487000	0.26855	1.000000	0.68203	0.039000	0.14166	0.0:0.0:1.0:0.0	9.762	0.39704	818	0.41518	.;.	.	.	.	.	.	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	4121.11	34	chr7	101006477	.	G	T	4121.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.313e+00;DP=1027;ExcessHet=0.1072;FS=2.897;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=0.029;SOR=0.556	GT:AD:DP:GQ:PL	0/1:92,82:174:99:1913,0,2442	19	0	2	0
chr7	103309033	103309033	A	G	exonic	PMPCB	.	nonsynonymous SNV	PMPCB:NM_004279:exon8:c.A931G:p.I311V,	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.042	B	0.156	B	0.000	D	1.000	D	1.27	L	1.59	T	-1.102	T	0.066	T	0.193	1.221	9.952	4.16	0.932	3.594	11.865	0.062	0.00988091217189	7.7e-05	0.000599042	0.0004	0	0	0	0	0	0	0.0032	0.0003558	55	154602	rs145931070	0.0002	0.0002	9.016e-05	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	6.039e-05	0	0	0	0	0	9.014e-06	0.0002	0.0028	0.0001	0.0001	7.709e-05	0.0001	0.0027	6.506e-05	5.318e-05	0.0016	0.0013	7.217e-05	0	0	0	0	0	0	0	0	0.0027	0.555	0.06648	T	0.518	0.10536	T	0.035	0.20614	B	0.052	0.25551	B	0.000000	0.84330	D	0.048261	0.999938	0.51612	D	1.445	0.36358	L	1.59	0.28836	T	-0.73	0.20576	N	0.149	0.25130	-1.1024	0.03813	T	0.066	0.27191	T	10	0.007566899	0.00172	T	0.009881	0.25743	T	0.062	0.17934	.	.	0.192905019026	0.18896	0.39032581523904325	0.38947	0.11670823845	0.13163	0.619663715363	0.55681	T	0.082087	0.36747	T	-0.52432	0.00415	T	-0.530852	0.19202	T	0.0978661061021254	0.12120	T	0.919108	0.70849	D	0.24821028	0.47806	0.23808044	0.49122	0.24821028	0.47806	0.23808044	0.49121	-3.968	0.23323	T	0.2730606071303544	0.36701	0.088	0.11510	B	.;.	.;.	2.235782	0.28541	17.83	0.96580792598678777	0.30333	0.85005	0.44105	D	AEFGBCI	0.562929	0.57032	D	-0.258830697224144	0.30752	1.717686	-0.0947466650667741	0.35606	2.062039	0.37705048223917	0.19925	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.35	4.16	0.48138	3.623000	0.53964	6.145000	0.54110	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.981000	0.58702	0.7235:0.2765:0.0:0.0	11.865	0.51764	651	0.62880	Peptidase M16, C-terminal;Peptidase M16, 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	1651.98	35	chr7	103309033	.	A	G	1651.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.053;DP=814;ExcessHet=0.0000;FS=0.677;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=1.90;SOR=0.830	GT:AD:DP:GQ:PL	0/1:63,63:126:99:1666,0,1645	20	0	1	0
chr7	103565332	103565332	G	A	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon34:c.C5156T:p.S1719L	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	0	1514	6	2	0	10	0.00329164	.	.	135572	not_provided|Norman-Roberts_syndrome|Familial_temporal_lobe_epilepsy_7|not_specified|RELN-related_disorder	MedGen:C3661900|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	0.999	D	0.963	D	0.000	N	1.000	D	1.87	L	1.75	T	-0.797	T	0.166	T	0.933	4.411	23.4	5.15	1.569	9.139	15.254	0.343	.	0.0056	0.00339457	0.0067	0.0014	0.0024	0	0.0085	0.0081	0.0055	0.0102	0.0064359	995	154602	rs115913736	0.0070	0.0070	0.0068	0.0072	0.0105	0.0069	0.0068	0.0100	0.0097	0.0012	0.0022	0.0253	0.0001	0.0073	0.0017	0.0070	0.0065	0.0105	0.0054	0.0054	0.0052	0.0055	0.0137	0.0050	0.0049	0.0110	0.0101	0.0014	0.0033	0.0035	0.0308	0	0.0078	0	0.0065	0.0028	0.0137	0.156	0.24090	T	0.003	0.76473	D	0.998	0.77913	D	0.963	0.70837	D	0.000006	0.62929	N	0.066420	0.999988	0.54805	D	2.19	0.61577	M	1.75	0.43672	T	-2.21	0.49684	N	0.874	0.87590	-0.7971	0.55315	T	0.166	0.50502	T	10	0.008295119	0.00188	T	.	.	.	0.343	0.66488	.	.	0.774548999786	0.77247	0.8146779837762341	0.81423	0.646648351517	0.58073	0.59543299675	0.52259	T	0.13509	0.46670	T	-0.110992	0.34604	T	0.0771866	0.75390	D	0.0162818479937675	0.00399	T	0.952605	0.81930	D	0.15159601	0.34455	0.19242989	0.42756	0.16959389	0.37485	0.19242989	0.42755	-10.351	0.75986	D	0.4840427302220018	0.56215	0.174	0.38043	B	.;.;.	.;.;.	4.930098	0.81271	27.5	0.99907662134514097	0.97801	0.98876	0.88035	D	AEFBI	0.942904	0.94807	D	0.720984873074304	0.81007	7.42263	0.718139143487883	0.83757	8.106139	0.990970935846192	0.32331	0.536767	0.22168	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	6.02	5.15	0.70287	9.262000	0.94771	11.908000	0.99523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0668:0.0:0.9332:0.0	15.254	0.73267	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1486.98	33	chr7	103565332	.	G	A	1486.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.653;DP=879;ExcessHet=0.0000;FS=3.836;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=-1.180e-01;SOR=0.447	GT:AD:DP:GQ:PL	0/1:94,63:157:99:1501,0,2358	20	0	1	0
chr7	107758768	107758768	C	T	exonic	CBLL1	.	nonsynonymous SNV	CBLL1:NM_001284291:exon6:c.C1063T:p.P355S	.	.	410	1105	7	0	0	7	0.00315742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.03	B	0.025	B	0.000	D	1.000	D	0.805	L	1.58	T	-1.107	T	0.058	T	0.179	1.638	11.43	3.91	1.123	6.771	15.074	0.045	0.00786724150452	0.0008	0.000399361	0.0009	0.0002	0.0004	0	0.0002	0.0014	0	0.0007	0.0009314	144	154602	rs141627101	0.0012	0.0012	0.0011	0.0013	0.0038	0.0011	0.0011	0.0026	0.0022	0.0004	0.0008	0.0003	0	0.0002	0.0038	0.0013	0.0014	0.0010	0.0008	0.0008	0.0009	0.0008	0.0014	0.0007	0.0007	0.0012	0.0011	0.0003	0	0.0004	0	0	9.443e-05	0.0136	0.0014	0.0028	0.0008	0.077	0.34095	T	0.293	0.21144	T	0.03	0.20002	B	0.025	0.20508	B	0.000318	0.45977	D	0.147246	0.997291	0.81001	D	1.3	0.32576	L	1.58	0.30937	T	-1.42	0.34992	N	0.236	0.28498	-1.1068	0.03359	T	0.058	0.24354	T	10	0.019974142	0.00453	T	0.007867	0.20877	T	0.045	0.12272	.	.	0.292942362817	0.28906	0.037039538264926224	0.03650	0.337854161108	0.35767	0.620581030846	0.55811	T	0.04395	0.26664	T	-0.478299	0.00757	T	-0.484447	0.23974	T	0.0293374223342877	0.01888	T	0.910809	0.68393	D	0.091110446	0.21340	0.12310912	0.29689	0.091110446	0.21340	0.12310912	0.29688	-3.885	0.22408	T	.	.	0.078	0.10256	B	.;.;.	.;.;.	2.126118	0.27065	17.33	0.96613849713025746	0.30452	0.94635	0.61812	D	AEFGBHCI	.	.	.	-0.126722023813466	0.36231	2.091487	0.0414890129603121	0.41661	2.506788	0.999860900249377	0.44398	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.81	3.91	0.44383	6.893000	0.75468	4.080000	0.41731	0.537000	0.25018	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8571:0.1429:0.0	15.074	0.71731	755	0.51144	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1741.98	33	chr7	107758768	.	C	T	1741.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.870e-01;DP=841;ExcessHet=0.0000;FS=0.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=-1.247e+00;SOR=0.783	GT:AD:DP:GQ:PL	0/1:77,70:147:99:1756,0,2000	20	0	1	0
chr7	123876907	123876907	T	G	exonic	HYAL4	.	nonsynonymous SNV	HYAL4:NM_012269:exon5:c.T1198G:p.L400V,	.	.	438	1081	3	0	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	0.856	D	2.93	M	1.47	T	-0.571	T	0.148	T	0.829	3.107	16.38	-2.54	-0.261	-0.440	13.487	0.379	0.05632031354	0.0047	0.00139776	0.0047	0.0008	0.0004	0	0.0042	0.0077	0.0011	0.0008	0.0047865	740	154602	rs111907036	0.0054	0.0054	0.0055	0.0053	0.0065	0.0053	0.0053	0.0064	0.0064	0.0007	0.0005	0.0002	0	0.0048	0.0009	0.0065	0.0037	0.0011	0.0040	0.0040	0.0043	0.0037	0.0069	0.0037	0.0036	0.0064	0.0061	0.0011	0	0.0007	0	0	0.0070	0.0034	0.0069	0.0033	0.0008	0.006	0.61437	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000006	0.62929	D	0.000000	0.855527	0.35296	D	3.165	0.88605	M	1.47	0.31987	T	-2.86	0.60188	D	0.494	0.54409	-0.5705	0.65994	T	0.148	0.47380	T	10	0.016780049	0.00355	T	0.05632	0.66563	D	0.379	0.69696	.	.	0.240491677333	0.23641	0.678487424277557	0.67787	0.160552358693	0.18118	0.381639093161	0.22490	T	0.452661	0.79290	T	-0.254064	0.13604	T	-0.131183	0.60872	T	0.0583069543937478	0.06898	T	0.766023	0.39401	T	0.33513343	0.55889	0.31088927	0.57097	0.33513343	0.55890	0.31088927	0.57097	-6.826	0.52752	T	.	.	0.304	0.53386	B	.;.	.;.	1.834645	0.23309	15.97	0.99486700814425677	0.67180	0.55234	0.29813	D	AEFDI	0.282874	0.39611	N	-0.160335812617975	0.34796	1.990546	-0.382952397425744	0.25506	1.403025	2.38113951082185E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.86	-2.54	0.05941	-0.618000	0.05674	-0.791000	0.07414	-0.123000	0.13640	0.001000	0.13787	0.000000	0.08366	0.096000	0.18090	0.0:0.5442:0.0:0.4558	13.487	0.60824	843	0.36859	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2026.98	33	chr7	123876907	.	T	G	2026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.820e-01;DP=873;ExcessHet=0.0000;FS=1.823;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.20;ReadPosRankSum=-2.320e-01;SOR=0.834	GT:AD:DP:GQ:PL	0/1:97,84:181:99:2041,0,2534	20	0	1	0
chr7	128479325	128479325	T	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.T370C:p.C124R,	.	.	438	1023	61	0	0	61	0.0289511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.070	N	1.000	N	-0.895	N	2.82	T	-0.911	T	0.159	T	0.493	-1.114	0.131	-3.33	-0.521	-0.728	3.406	0.150	0.0174515873499	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs2896399	6.91e-07	0.0003	0	1.392e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	7.762e-05	0.0047	6.85e-05	8.73e-05	0.0002	4.257e-05	3.336e-05	3.499e-05	2.115e-05	0.0001	0	0	0.0003	0	0.0001	0	6.298e-05	0	0.0002	0.543	0.07211	T	0.446	0.14075	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	0.999999	0.08975	N	0	0.06538	N	-1.5	0.81318	D	-0.09	0.08340	N	0.091	0.06990	-0.9107	0.46768	T	0.159	0.49245	T	10	0.040916353	0.02701	T	0.017452	0.39153	T	0.150	0.39571	.	.	0.281780670237	0.27795	0.3364087587855413	0.33553	1.77259410334	0.91302	0.311764478683	0.12173	T	0.009243	0.08422	T	-0.023595	0.48339	T	-0.271669	0.47650	T	0.0109154101652592	0.00156	T	0.0324967	0.00210	T	0.16811484	0.37249	0.10462155	0.25132	0.16811484	0.37249	0.10462155	0.25131	-3.247	0.14219	T	.	.	0.058	0.01645	B	.;.	.;.	-0.248706	0.02851	0.401	0.19786044545260884	0.00683	0.00784	0.03216	N	AEFDGBI	0.026016	0.01879	N	-1.68615344627752	0.00892	0.03860894	-1.71130139537614	0.01088	0.04887346	0.983306935734051	0.30538	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.65	-3.33	0.04649	-0.038000	0.12096	-0.198000	0.10972	-1.804000	0.00620	0.000000	0.06391	0.000000	0.08366	0.326000	0.25110	0.1971:0.2519:0.0:0.5509	3.406	0.06915	340	0.86005	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3	3229.78	206	chr7	128479325	.	T	C	3229.78	.	AC=9;AF=0.300;AN=30;BaseQRankSum=2.39;DP=4419;ExcessHet=4.7172;FS=44.472;InbreedingCoeff=-0.4018;MLEAC=11;MLEAF=0.367;MQ=57.67;MQRankSum=-1.368e+01;QD=1.57;ReadPosRankSum=-3.614e+00;SOR=5.400	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:228,25:253:99:0|1:128479325_T_C:363,0,9452:128479325	6	0	9	6
chr7	128479326	128479326	G	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.G371C:p.C124S,	.	.	439	1022	61	0	0	61	0.0289786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.0	B	0.0	B	0.070	N	1.000	N	-0.345	N	2.87	T	-0.882	T	0.184	T	0.33	-1.681	0.012	-0.54	0.001	-0.407	1.070	0.035	0.0178834836329	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs1053120	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0047	0.0001	0.0001	0.0002	8.172e-05	6.772e-05	5.008e-05	3.232e-05	0.0001	0	7.124e-05	0.0003	0	0.0004	0	9.519e-05	0	0.0002	0.758	0.03719	T	0.539	0.11004	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	1	0.08975	N	-1.245	0.00777	N	-1.44	0.80815	T	0.31	0.04022	N	0.028	0.00618	-0.8819	0.49609	T	0.184	0.53346	T	10	0.027546227	0.00899	T	0.017883	0.39748	T	0.035	0.08770	0.413	0.45052	0.143124449307	0.13826	0.18685623340228857	0.18603	1.30509170409	0.83107	0.288228809834	0.08665	T	0.005735	0.05178	T	-0.0687896	0.41519	T	-0.336588	0.40731	T	0.0201303625068684	0.00714	T	0.0364963	0.00253	T	0.06934343	0.15184	0.05611007	0.09968	0.06934343	0.15184	0.05611007	0.09967	-1.643	0.02320	T	.	.	0.063	0.01622	B	.;.	.;.	-0.660452	0.01415	0.083	0.18282609098011249	0.00568	0.00146	0.00887	N	AEFDGBI	0.017860	0.00498	N	-1.54153135271646	0.01584	0.06923818	-1.55325254833429	0.01954	0.08918713	0.918060544389619	0.26560	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.57	-0.54	0.11268	-0.000000	0.12910	-3.007000	0.03146	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.2318:0.3902:0.2301:0.1479	1.070	0.01518	340	0.86005	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3	3281.73	207	chr7	128479326	.	G	C	3281.73	.	AC=9;AF=0.300;AN=30;BaseQRankSum=1.60;DP=4446;ExcessHet=4.7172;FS=44.472;InbreedingCoeff=-0.4190;MLEAC=11;MLEAF=0.367;MQ=57.73;MQRankSum=-1.377e+01;QD=1.60;ReadPosRankSum=-3.844e+00;SOR=5.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:228,25:253:99:0|1:128479325_T_C:363,0,9452:128479325	6	0	9	6
chr7	134530754	134530754	C	T	exonic	AKR1B10	.	stopgain	AKR1B10:NM_020299:exon2:c.C178T:p.Q60X,	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	.	.	.	.	0.002	N	1.000	A	.	.	.	.	.	.	.	.	.	7.387	39	4.74	2.358	4.258	17.128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002349	0.36727	N	0.275946	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.775	0.77226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528224	0.95112	D	0.520981	0.95039	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.126258	0.98501	39	0.99841790966718147	0.92229	0.90311	0.51386	D	AEFBHCI	0.088865	0.18014	N	0.914191964924193	0.92437	11.42293	0.755757395911069	0.86588	8.937131	0.999999999743471	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	4.74	4.74	0.59717	3.454000	0.52750	2.927000	0.35595	0.541000	0.25215	1.000000	0.71638	0.180000	0.23413	0.995000	0.73285	0.0:1.0:0.0:0.0	17.128	0.86596	833	0.38804	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2565.98	36	chr7	134530754	.	C	T	2565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.086;DP=927;ExcessHet=0.0000;FS=4.298;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=0.00;QD=13.95;ReadPosRankSum=0.265;SOR=0.440	GT:AD:DP:GQ:PL	0/1:85,99:184:99:2580,0,2226	20	0	1	0
chr7	139035753	139035753	G	A	exonic	ZC3HAV1L	.	nonsynonymous SNV	ZC3HAV1L:NM_080660:exon1:c.C265T:p.R89C,	.	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.981	D	0.002	U	1.000	D	2.46	M	1.11	T	-0.573	T	0.249	T	0.771	4.590	25.0	3.8	0.915	6.499	12.377	0.473	0.783397648552	.	.	0.0001	0	0	0	0	0.0005	0	0	6.5e-06	1	154602	rs751509427	3.347e-05	5.404e-05	3.375e-05	3.319e-05	0.0002	2.552e-05	2.278e-05	2.389e-05	2.114e-05	0	0	0.0003	0	0	0.0002	3.291e-05	5.355e-05	0	6.57e-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	0.0	0.91255	D	0.01	0.65728	D	1.0	0.90584	D	0.981	0.75168	D	0.002346	0.36727	U	0.000000	0.999571	0.47641	D	2.91	0.84121	M	1.11	0.38883	T	-6.38	0.91100	D	0.491	0.52475	-0.5725	0.65916	T	0.249	0.61820	T	10	0.7271104	0.74048	D	0.783398	0.98295	D	0.473	0.76619	0.716	0.85141	0.385249989106	0.38142	0.5116097945436021	0.51082	3.07987304828	0.99351	0.900111913681	0.96453	D	0.324979	0.69574	T	0.220795	0.75851	D	0.0793796	0.75536	D	0.824855923652649	0.48135	D	0.779722	0.41422	T	0.6773249	0.76825	0.50484854	0.71379	0.6773249	0.76826	0.50484854	0.71380	-10.513	0.76922	D	.	.	0.834	0.78933	P	.	.	5.850187	0.93816	33	0.99903648590952909	0.97502	0.71999	0.35259	D	AEFDGBHCI	0.555997	0.56621	D	0.563013910221245	0.70879	5.56667	0.469159901373946	0.65958	4.889815	0.999999999999939	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.47417	0.07244	0	0.372554	0.06265	0	.	.	4.71	3.8	0.42887	5.265000	0.65334	11.328000	0.92536	0.590000	0.31872	0.988000	0.36536	1.000000	0.68203	0.995000	0.73285	0.0:0.1715:0.8285:0.0	12.377	0.54615	443	0.79878	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	905.98	35	chr7	139035753	.	G	A	905.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=-1.678e+00;SOR=0.677	GT:AD:DP:GQ:PL	0/1:30,37:67:99:920,0,619	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	1/1:0,90,0,0:90:99:4016,271,0,4016,271,4016,4016,271,4016,4016	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	1/1:0,90,0,0:90:99:4016,271,0,4016,271,4016,4016,271,4016,4016	0	16	2	0
chr7	143342417	143342417	G	C	exonic	CLCN1	.	nonsynonymous SNV	CLCN1:NM_000083:exon16:c.G1842C:p.K614N,	Myotonia congenita, dominant, Autosomal dominant;Myotonia congenita, recessive, Autosomal recessive;Myotonia levior, recessive (3)	.	.	.	.	.	.	.	.	.	.	310061	CLCN1-related_disorder|not_provided|Congenital_myotonia,_autosomal_dominant_form|Congenital_myotonia,_autosomal_recessive_form|Batten-Turner_congenital_myopathy	.|MedGen:C3661900|MONDO:MONDO:0008055,MedGen:C2936781,OMIM:160800,Orphanet:614|MONDO:MONDO:0009715,MedGen:C0751360,OMIM:255700,Orphanet:614|MONDO:MONDO:0100468,MedGen:C0027127,OMIM:255300	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.707	P	0.409	B	0.000	D	0.999	D	1.885	L	-1.79	D	-0.259	T	0.442	T	0.257	3.124	16.44	4.94	1.468	1.850	4.592	0.410	0.0572802506424	0.0022	0.000798722	0.0014	0.0009	0.0003	0	0.0009	0.0022	0.0022	0.0001	0.0015524	240	154602	rs140205115	0.0034	0.0034	0.0036	0.0032	0.0042	0.0033	0.0033	0.0041	0.0041	0.0005	0.0002	7.652e-05	0	0.0007	0	0.0042	0.0022	0.0003	0.0018	0.0018	0.0021	0.0015	0.0036	0.0016	0.0016	0.0032	0.0031	0.0006	0	0.0003	0	0	0.0003	0	0.0036	0.0009	0	0.015	0.52492	D	0.114	0.36765	T	0.707	0.42016	P	0.409	0.44752	B	0.000349	0.45440	D	0.254123	0.998766	0.45406	D	2.1	0.58353	M	-1.79	0.83815	D	-3.28	0.65627	D	0.451	0.48872	-0.2591	0.76112	T	0.442	0.77977	T	10	0.022209048	0.00549	T	0.05728	0.66910	D	0.410	0.72176	0.618	0.75232	0.890696943311	0.88961	0.6872246774293543	0.68662	0.46802664529	0.46163	0.733019351959	0.71947	T	0.513438	0.82844	D	-0.324939	0.06501	T	-0.240367	0.50762	T	0.0335692753582847	0.02566	T	0.713829	0.32570	T	0.3273013	0.55249	0.21294194	0.45784	0.3273013	0.55249	0.21294194	0.45783	-9.899	0.73304	D	0.3401415434239293	0.43791	0.549	0.66743	A	.	.	5.682843	0.93009	33	0.99854924177416549	0.93368	0.88035	0.47790	D	AEFBI	0.424138	0.48943	N	0.273250641878504	0.54796	3.644476	0.331321798961821	0.57388	3.904412	0.98169348533504	0.30298	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.82	4.94	0.64645	1.908000	0.39537	6.722000	0.56432	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.2031:0.0:0.625:0.1719	4.592	0.11706	.	.	CBS 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	1	0	0.02381	1864.98	34	chr7	143342417	.	G	C	1864.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.29;ReadPosRankSum=-2.770e-01;SOR=0.691	GT:AD:DP:GQ:PL	0/1:57,65:122:99:1879,0,1479	20	0	1	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.08	B	0.074	B	0.948	N	1.000	N	1.69	L	5.65	T	-0.976	T	0.003	T	0.072	-0.179	3.127	-8.61	-1.743	-1.632	6.528	0.028	0.00241750934598	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373019967	6.544e-06	0.0009	4.362e-06	8.725e-06	7.733e-06	3.08e-06	2.23e-06	3.33e-06	2.4e-06	0	0	0	0	1.901e-05	0	7.733e-06	0	0	0	1.985e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.412	0.14456	T	0.08	0.24543	B	0.074	0.28220	B	0.947612	0.07634	N	1.033800	1	0.08975	N	1.015	0.25427	L	5.65	0.00784	T	-0.47	0.15178	N	0.052	0.02366	-0.9758	0.35948	T	0.003	0.01092	T	10	0.07525703	0.11609	T	0.002418	0.04757	T	0.028	0.06331	0.652	0.78963	0.101711395817	0.09552	0.04758141662796776	0.04701	0.0497017490909	0.05451	0.254782557487	0.04288	T	0.002724	0.02115	T	-0.393424	0.02556	T	-0.802903	0.01831	T	0.103939465538467	0.12785	T	.	.	.	0.047795918	0.08228	0.037618708	0.03453	0.047795918	0.08227	0.037618708	0.03453	-3.217	0.12689	T	.	.	0.092	0.13503	B	.	.	-1.055815	0.00695	0.020	0.53951675314367431	0.05040	0.01208	0.04299	N	AEFBI	0.032596	0.03711	N	-1.54910637092624	0.01540	0.06726581	-1.68964110834314	0.01184	0.05327442	0.999999965671774	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.7	-8.61	0.00769	-1.143000	0.03311	-0.836000	0.07236	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.279:0.1065:0.5102:0.1042	6.528	0.21510	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4286	4409.3	115	chr7	143478290	.	A	G	4409.3	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-2.767e+00;DP=2442;ExcessHet=30.0624;FS=186.672;InbreedingCoeff=-0.7419;MLEAC=18;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=1.01;SOR=12.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,23:128:99:0|1:143478290_A_G:179,0,3486:143478290	3	0	18	0
chr7	151055803	151055803	G	A	exonic	CDK5	.	nonsynonymous SNV	CDK5:NM_004935:exon6:c.C358T:p.R120C,	.	.	306	1213	3	0	0	3	0.00123508	.	.	3292967	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.997	D	0.708	P	0.000	D	1.000	D	1.38	L	-0.23	T	-0.394	T	0.304	T	0.906	4.086	21.0	4.51	2.349	5.713	14.773	0.600	0.0894604616133	8.1e-05	.	0.0002	0	0	0	0	0.0001	0	0.0009	0.0001164	18	154602	rs373178311	8.767e-05	9.029e-05	5.723e-05	0.0001	0.0008	7.497e-05	7.043e-05	0.0006	0.0006	2.989e-05	2.247e-05	0	2.52e-05	0	0.0005	5.04e-05	0	0.0008	2.629e-05	2.627e-05	1.285e-05	4.037e-05	0.0002	8.14e-06	5.14e-06	.	.	2.415e-05	0	0	0	0.0002	0	0	1.47e-05	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	0.997	0.70673	D	0.708	0.54437	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.88	0.49984	L	-0.23	0.66652	T	-3.24	0.65171	D	0.53	0.55886	-0.3943	0.72206	T	0.304	0.67538	T	10	0.41099596	0.56223	T	0.08946	0.75331	D	0.600	0.84183	.	.	0.935304995632	0.93463	0.7881675718964364	0.78768	2.20945217804	0.95737	0.813554286957	0.84037	D	0.268868	0.64102	T	0.0427088	0.57399	T	0.226578	0.84503	D	0.328219652175903	0.26153	T	0.875412	0.58680	D	0.7017071	0.78150	0.59412485	0.76441	0.7017071	0.78151	0.59412485	0.76442	-8.832	0.66609	D	.	.	0.348	0.56455	A	.	.	5.865975	0.93875	33	0.99893510715775147	0.96666	0.93479	0.58329	D	AEFBHCI	0.868225	0.78828	D	0.539317151318556	0.69432	5.35633	0.544333137282276	0.71002	5.589246	0.999999878190112	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.383324	0.06259	0	0.562822	0.20929	0	.	.	4.51	4.51	0.54589	6.029000	0.70540	8.683000	0.78050	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	14.773	0.69315	884	0.28482	Protein kinase domain|Protein kinase domain|Protein kinase 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	1247.98	37	chr7	151055803	.	G	A	1247.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.680e-01;DP=899;ExcessHet=0.0000;FS=0.784;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=1.06;SOR=0.598	GT:AD:DP:GQ:PL	0/1:41,49:90:99:1262,0,1035	20	0	1	0
chr7	151381667	151381667	G	A	exonic	WDR86	.	nonsynonymous SNV	WDR86:NM_001284261:exon5:c.C526T:p.R176C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.004	B	0.0	B	0.898	U	1.000	N	0.345	N	0.26	T	-1.004	T	0.084	T	.	2.306	13.67	-1.61	0.220	1.221	0.243	0.112	0.737852016634	.	.	.	.	.	.	.	.	.	.	.	.	.	rs886465924	1.112e-05	1.642e-05	1.243e-05	9.747e-06	8.307e-05	6.45e-06	5.05e-06	1.474e-05	6.14e-06	8.307e-05	0	0	0	0	0	1.073e-05	0	1.679e-05	2.63e-05	2.627e-05	1.285e-05	4.037e-05	9.654e-05	8.14e-06	5.14e-06	3.25e-05	1.915e-05	9.654e-05	0	0	0	0	0	0	0	0	0	0.236	0.17940	T	0.247	0.49663	T	0.017	0.17573	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	0.47	0.56114	T	-1.72	0.40850	N	0.088	0.06587	-1.0045	0.28607	T	0.084	0.32900	T	9	0.21259755	0.37725	T	0.737852	0.97897	D	0.112	0.31546	0.255	0.19533	0.184867976434	0.18130	.	.	1.14391330871	0.79018	0.786680161953	0.79937	T	0.004559	0.03968	T	-0.162917	0.26311	T	-0.471795	0.25323	T	0.654710590839386	0.38665	D	0.493751	0.15260	T	0.025361499	0.01466	0.044405244	0.05746	0.025361499	0.01465	0.044405244	0.05746	-3.466	0.15959	T	.	.	0.099	0.16800	B	.;.	.;.	1.275245	0.16744	12.74	0.99693332183539729	0.80112	0.01527	0.05031	N	AEFDBHCIJ	0.046630	0.07764	N	-1.03648039657157	0.07855	0.3663363	-1.08168941112833	0.08061	0.3947164	0.999956853823855	0.48110	0.652421	0.48094	0	0.606814	0.50340	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	4.28	-1.61	0.07951	2.586000	0.45785	1.198000	0.24816	0.588000	0.31329	0.190000	0.24188	0.163000	0.23278	0.016000	0.10718	0.2443:0.1699:0.2961:0.2897	0.243	0.00181	952	0.10565	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	472.98	17	chr7	151381667	.	G	A	472.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=555;ExcessHet=0.0000;FS=3.698;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.77;ReadPosRankSum=1.70;SOR=0.257	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,17:30:99:0|1:151381633_C_A:487,0,300:151381633	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	0/1:267,104:371:99:1691,0,9500	4	0	17	0
chr7	152235831	152235831	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon16:c.G2755C:p.V919L,	.	.	523	804	188	7	0	202	0.111602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.98	T	0.005	B	0.006	B	0.001	D	1.000	D	0.895	L	-1.76	D	-0.782	T	0.290	T	0.172	1.461	10.83	3.05	1.220	0.832	9.075	0.184	.	.	.	0.3064	0.3892	0.3854	0.3769	0.3614	0.2662	0.3017	0.2987	0.0009221	24	26028	rs111791757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.08609	T	.	.	.	0.005	0.12996	B	0.006	0.12133	B	0.000997	0.40743	D	0.000000	0.909796	0.27531	N	1.04	0.26193	L	-1.76	0.83578	D	-0.87	0.23590	N	0.351	0.39254	-0.7817	0.56206	T	0.290	0.66182	T	10	0.001721412	0.00022	T	.	.	.	0.190	0.46781	.	.	.	.	0.3939079229526045	0.39305	1.16460324479	0.79582	0.551522254944	0.46072	T	0.082871	0.36927	T	-0.0536841	0.43886	T	-0.31489	0.43132	T	0.00291439180401243	0.00030	T	0.782522	0.41827	T	0.11401484	0.26920	0.058207095	0.10716	0.11401484	0.26920	0.058207095	0.10716	-2.714	0.07421	T	0.21301624123496365	0.28594	0.155	0.34361	B	.;.	.;.	2.476867	0.31934	18.89	0.93460886301440382	0.23247	0.88481	0.48429	D	AEFBI	0.274499	0.38967	N	-0.471234561374049	0.23027	1.233672	-0.289425091573026	0.28446	1.586133	2.17144164743047E-4	0.05997	0.736574	0.97449	0	0.732669	0.95671	0	0.601832	0.32385	0	0.756605	0.99741	0	.	.	5.0	3.05	0.34272	0.914000	0.28246	0.910000	0.22619	0.549000	0.26987	0.989000	0.36753	0.340000	0.24418	0.997000	0.79791	0.0:0.6447:0.2767:0.0786	9.075	0.35674	934	0.15400	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.07143	208.62	107	chr7	152235831	.	C	G	208.62	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.229;DP=1903;ExcessHet=0.3300;FS=7.943;InbreedingCoeff=-0.0717;MLEAC=2;MLEAF=0.048;MQ=50.91;MQRankSum=-2.006e+00;QD=0.78;ReadPosRankSum=-1.391e+00;SOR=1.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,13:97:99:.:.:117,0,3338	18	0	3	0
chr7	152248171	152248171	G	A	exonic	KMT2C	.	stopgain	KMT2C:NM_170606:exon14:c.C2263T:p.Q755X,	.	.	418	977	127	0	0	127	0.0610284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.507	N	1.000	N	.	.	.	.	.	.	.	.	.	6.978	38	2.44	0.630	0.436	1.678	.	.	.	.	0.0416	0.1069	0.0224	0.0563	0.0442	0.0281	0.0509	0.0646	0.0003458	9	26028	rs201234598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507052	0.05125	N	1.373010	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.772	0.76946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207808	0.74625	D	0.0607255	0.74294	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	6.010711	0.94333	34	0.99557216609082289	0.71521	0.06104	0.12080	N	AEFGBI	0.041531	0.06327	N	0.101422309534251	0.46529	2.891879	-0.202886129060462	0.31431	1.778824	0.384391544153175	0.19989	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.53	2.44	0.28875	0.459000	0.21619	2.861000	0.35203	0.676000	0.76740	0.094000	0.22667	0.999000	0.35428	0.188000	0.21541	0.1392:0.2962:0.2939:0.2707	1.678	0.02655	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.125	797.32	165	chr7	152248171	.	G	A	797.32	.	AC=5;AF=0.125;AN=40;BaseQRankSum=5.98;DP=2497;ExcessHet=1.1607;FS=41.174;InbreedingCoeff=-0.1528;MLEAC=5;MLEAF=0.125;MQ=48.99;MQRankSum=-6.374e+00;QD=0.93;ReadPosRankSum=0.070;SOR=8.357	GT:AD:DP:GQ:PL	0/1:151,18:169:99:255,0,4280	15	0	5	1
chr7	152265205	152265205	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon8:c.G1017C:p.K339N,	.	.	421	1051	50	0	0	50	0.0232342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.999	D	0.991	D	0.001	U	1.000	D	1.04	L	-5.16	D	0.881	D	0.928	D	0.158	0.401	6.180	3.77	1.072	1.789	11.249	0.572	.	.	.	0.0021	0.0111	0.0007	0.0018	0.0005	0.0010	0	0.0035	0.0006147	16	26028	rs775803041	5.981e-05	0.0076	4.535e-05	7.442e-05	0.0003	4.937e-05	4.544e-05	0.0002	0.0001	0.0003	9.457e-05	4.025e-05	0.0002	3.892e-05	0	3.535e-05	5.168e-05	0.0002	3.333e-05	0.0021	1.302e-05	5.465e-05	0.0002	1.275e-05	8.08e-06	8.19e-06	3.07e-06	4.945e-05	0	0	0	0	0	0	1.482e-05	0.0005	0.0002	0.246	0.17353	T	.	.	.	0.999	0.77913	D	0.991	0.79672	D	0.000576	0.43250	U	0.000000	0.938391	0.37224	D	1.445	0.36358	L	-5.16	0.98796	D	-2.17	0.49018	N	0.586	0.60664	0.881	0.95424	D	0.928	0.97621	D	10	0.022789448	0.00578	T	.	.	.	0.572	0.82629	0.4	0.42917	0.863302321749	0.86197	0.9070440576430164	0.90677	3.14057088863	0.99419	0.771010279655	0.77576	T	0.079823	0.36220	T	0.0848077	0.62599	D	-0.115956	0.62133	T	0.085914246737957	0.10725	T	0.856014	0.54441	D	0.14069383	0.32450	0.13352853	0.32017	0.14069383	0.32450	0.13352853	0.32016	-7.908	0.60442	D	0.7078248139639416	0.78764	0.700	0.72955	P	.;.	.;.	4.007063	0.59081	24.1	0.98560692262797078	0.42973	0.86679	0.46011	D	AEFDGI	0.317148	0.42122	N	-0.0667300470696601	0.38857	2.282421	-0.115006256874915	0.34785	2.004846	0.502645286987131	0.20955	0.706548	0.73137	0	0.724815	0.89359	0	0.601832	0.32385	0	0.74596	0.99574	0	.	.	4.65	3.77	0.42499	1.960000	0.40046	3.951000	0.40674	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.8451:0.0:0.1549	11.249	0.48247	952	0.10565	.;.	.	.	.	.	.	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	0.09524	518.92	323	chr7	152265205	.	C	G	518.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-1.361e+00;DP=4176;ExcessHet=0.6776;FS=2.065;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=46.72;MQRankSum=-4.333e+00;QD=0.48;ReadPosRankSum=-1.062e+00;SOR=1.120	GT:AD:DP:GQ:PL	0/1:233,28:261:36:36,0,6531	17	0	4	0
chr8	166352	166352	C	G	exonic	OR4F21	.	nonsynonymous SNV	OR4F21:NM_001005504:exon1:c.G673C:p.V225L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.325	B	0.246	B	0.001	D	1.000	N	1.565	L	8.27	T	-1.028	T	0.001	T	0.245	0.524	6.841	1.96	1.123	-1.108	4.530	0.067	0.000530597781798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.529	0.10138	T	0.325	0.33132	B	0.246	0.38861	B	0.000561	0.43413	D	0.000000	1	0.08975	N	-0.43	0.02865	N	8.27	0.00268	T	-2.78	0.58896	D	0.095	0.07535	-1.0283	0.21005	T	0.001	0.00222	T	10	0.09136692	0.15999	T	5.31E-4	0.00185	T	0.067	0.19503	0.456	0.52102	0.0666544352282	0.05500	0.10399243496484378	0.10329	.	.	0.318856149912	0.13248	T	0.026131	0.19403	T	-0.300854	0.08579	T	-0.669933	0.07613	T	0.323527455329895	0.25964	T	0.869313	0.57326	D	0.1931665	0.41016	0.17348346	0.39678	0.1931665	0.41016	0.17348346	0.39677	-7.171	0.55273	T	.	.	0.173	0.37988	B	.	.	1.478559	0.19034	14.06	0.96952852106243448	0.31743	0.00465	0.02234	N	AEFI	0.033389	0.03951	N	-0.570582871626365	0.19843	1.041685	-0.617697796477399	0.19039	1.019733	1.94108467594817E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.96	1.96	0.25203	-1.632000	0.02126	-0.248000	0.10531	-0.809000	0.03084	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.8006:0.0:0.1994	4.530	0.11407	994	0.00715	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	0.02632	35.45	22	chr8	166352	.	C	G	35.45	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.967;DP=126;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0548;MLEAC=1;MLEAF=0.026;MQ=23.07;MQRankSum=0.00;QD=11.82;ReadPosRankSum=0.00;SOR=1.179	GT:AD:DP:GQ:PL	0/1:1,2:3:19:48,0,19	18	0	1	2
chr8	6936031	6936031	G	A	exonic	DEFA4	.	nonsynonymous SNV	DEFA4:NM_001925:exon3:c.C283T:p.R95C,	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.01	B	0.0	B	.	.	1.000	N	.	.	1.76	T	-1.011	T	0.042	T	0.212	0.261	5.411	0.195	0.300	0.000	.	0.032	0.00125339859804	.	.	0.0002	0	0	0.0005	0	0.0003	0.0011	0	0.0001876	29	154602	rs559546450	0.0001	0.0001	0.0002	0.0001	0.0017	0.0001	0.0001	0.0009	0.0007	8.962e-05	8.944e-05	0	0.0009	0	0.0017	0.0001	0.0002	1.16e-05	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	9.7e-05	0.0004	0.0002	0.0001	0	0.0002	0	0.0010	0	0	0.0002	0	0	0.009	0.57480	D	0.024	0.56640	D	0.01	0.15535	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.76	0.25996	T	-0.6	0.17834	N	0.224	0.25130	-1.0106	0.26729	T	0.042	0.18118	T	7	0.04496041	0.03512	T	0.001253	0.01683	T	0.032	0.07718	.	.	0.221019684889	0.21715	0.10476233218858397	0.10406	0.00119037303395	0.00099	0.401863753796	0.25329	T	0.015701	0.13121	T	-0.470603	0.00843	T	-0.604898	0.12403	T	0.0425010765638274	0.04147	T	.	.	.	0.31964955	0.54610	0.17837135	0.40502	0.31964955	0.54610	0.17837135	0.40501	-8.758	0.66125	D	.	.	0.576	0.67882	P	.	.	1.618046	0.20668	14.86	0.93548087041861228	0.23378	0.01937	0.05900	N	AEFBCI	0.038079	0.05336	N	-1.01454242715687	0.08302	0.3887486	-1.17163982716828	0.06388	0.3073058	0.999601757487573	0.40866	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.195	0.195	0.14431	0.767000	0.26238	0.000000	0.13247	-0.265000	0.06832	0.005000	0.17040	0.117000	0.22861	0.011000	0.09372	.	.	.	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	1862.98	34	chr8	6936031	.	G	A	1862.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.25;DP=2027;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=0.078;SOR=0.667	GT:AD:DP:GQ:PL	0/1:95,72:167:99:1877,0,2222	20	0	1	0
chr8	7358313	7358313	C	G	exonic	ZNF705G	.	nonsynonymous SNV	ZNF705G:NM_001164457:exon7:c.G566C:p.R189P,	.	.	510	986	26	0	0	26	0.013013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	.	.	.	.	.	.	1.000	N	3.01	M	3.18	T	-1.052	T	0.044	T	0.264	0.977	8.986	0.109	0.042	-4.766	5.282	0.077	0.000308078436627	0.0002	0.000798722	0.0022	0.0001	0.0007	0.0001	0	0.0017	0	0.0084	0.0017788	275	154602	rs368734373	0.0012	0.0013	0.0009	0.0015	0.0126	0.0012	0.0011	0.0099	0.0089	0.0003	0.0007	0.0137	2.52e-05	0	0.0126	0.0005	0.0022	0.0077	0.0010	0.0011	0.0010	0.0011	0.0057	0.0009	0.0008	0.0040	0.0034	0.0001	0	0.0004	0.0139	0	0	0.0172	0.0009	0.0014	0.0057	0.041	0.41915	D	0.102	0.38450	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.49	0.72568	M	3.18	0.07478	T	-3.35	0.66436	D	0.267	0.30233	-1.0523	0.13763	T	0.044	0.19029	T	7	0.016572624	0.00350	T	3.08E-4	0.00027	T	0.077	0.22490	.	.	0.194818534648	0.19098	0.0716437379401887	0.07101	8.38689937476E-4	0.00070	0.519137859344	0.41504	T	0.102249	0.40979	T	-0.599116	0.00148	T	-0.62908	0.10484	T	0.0398025031288163	0.03654	T	0.0150385	0.00084	T	0.52510643	0.68552	0.44012263	0.67341	0.52510643	0.68553	0.44012263	0.67341	-8.71	0.65811	D	.	.	0.907	0.83217	P	.	.	2.121769	0.27008	17.32	0.9403768728901275	0.24156	0.00620	0.02740	N	AEFDBI	0.118989	0.23244	N	-0.752658196188609	0.14560	0.7263734	-1.03829226174489	0.08952	0.4427836	1.78956100016098E-6	0.01202	0.487112	0.14033	0	0.48864	0.07623	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	1.05	0.109	0.13884	-4.227000	0.00308	-20.000000	0.00162	0.233000	0.18164	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.774:0.0:0.226	5.282	0.14991	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	6807.11	45	chr8	7358313	.	C	G	6807.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.970;DP=2065;ExcessHet=0.1072;FS=0.551;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.88;MQRankSum=0.744;QD=7.58;ReadPosRankSum=1.38;SOR=0.785	GT:AD:DP:GQ:PL	0/1:300,164:464:99:3875,0,8061	19	0	2	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	2/2:0,0,91:91:99:4091,4091,4091,275,275,0	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	2/2:0,0,91:91:99:4091,4091,4091,275,275,0	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	0/1:210,80:290:99:.:.:640,0,6171	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	0/1:171,55,28:254:99:.:.:1912,0,5819,655,5243,6521	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	0/1:171,55,28:254:99:.:.:1912,0,5819,655,5243,6521	0	0	15	4
chr8	12132989	12132989	C	T	exonic	USP17L7	.	nonsynonymous SNV	USP17L7:NM_001256869:exon1:c.G1021A:p.A341T,	.	.	505	973	33	11	0	55	0.0274863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0133786	0.0121	0.0010	0.0017	0	0.0112	0.0063	0.0079	0.0558	0.009159	1416	154602	rs201299300	0.0079	0.0085	0.0063	0.0094	0.0534	0.0077	0.0077	0.0520	0.0514	0.0007	0.0018	0.0024	2.921e-05	0.0086	0.0128	0.0054	0.0073	0.0534	0.0052	0.0057	0.0047	0.0057	0.0546	0.0049	0.0048	0.0487	0.0464	0.0009	0	0.0020	0.0027	0.0002	0.0051	0	0.0061	0.0050	0.0546	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.905	0.50856	L	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	0.0023397803	0.00034	T	.	.	.	.	.	.	.	.	.	0.01632502428590783	0.01588	.	.	.	.	.	0.019464	0.15501	T	-0.306848	0.08028	T	-0.340151	0.40328	T	.	.	.	0.913609	0.69252	D	0.047589988	0.08158	0.19894652	0.43753	0.047589988	0.08157	0.19894652	0.43752	-5.526	0.42110	T	.	.	0.092	0.13644	B	.	.	2.654871	0.34573	19.66	0.78869533038067552	0.12488	0.68074	0.33666	D	AEFBI	.	.	.	.	.	.	.	.	.	0.00569468909275353	0.11016	0.080785	0.02172	0	0.096583	0.02683	0	0.060301	0.00762	0	0.057018	0.00518	0	0.603394	0.40870	.	.	.	3.496000	0.53050	-1.200000	0.06044	0.396000	0.20521	0.997000	0.40164	0.000000	0.08366	0.283000	0.24091	0.0:0.9992:0.0:8.0E-4	5.905	0.18235	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02632	2503.71	581	chr8	12132989	.	C	T	2503.71	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-9.610e-01;DP=4921;ExcessHet=0.0000;FS=0.627;InbreedingCoeff=-0.0270;MLEAC=1;MLEAF=0.026;MQ=51.57;MQRankSum=-2.778e+00;QD=4.46;ReadPosRankSum=1.53;SOR=0.659	GT:AD:DP:GQ:PL	0/1:431,130:561:99:2517,0,12467	18	0	1	2
chr8	12186441	12186441	C	0	exonic	FAM86B1	.	.	.	.	.	506	833	66	2	115	185	0.0403226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	1276.77	130	chr8	12186441	.	C	G,*	1276.77	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-6.950e-01;DP=1097;ExcessHet=1.1607;FS=1.769;InbreedingCoeff=-0.1451;MLEAC=3,2;MLEAF=0.071,0.048;MQ=38.36;MQRankSum=-2.685e+00;QD=2.30;ReadPosRankSum=-9.370e-01;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:78,0,10:88:99:.:.:185,420,3686,0,3266,3236	16	0	3	0
chr8	23448806	23448806	A	G	exonic	ENTPD4	.	nonsynonymous SNV	ENTPD4:NM_001128930:exon3:c.T142C:p.Y48H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.98	D	0.804	P	0.000	D	0.999	D	1.59	L	2.49	T	-1.130	T	0.071	T	0.725	3.855	19.58	5.47	2.070	4.487	10.530	0.226	0.00961120009591	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs572899371	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	1.969e-05	1.968e-05	1.285e-05	2.685e-05	7.217e-05	5.24e-06	2.45e-06	1.914e-05	1.03e-05	7.217e-05	0	0	0	0	0	0	0	0	0	0.014	0.65419	D	0.066	0.61642	T	0.966	0.59353	D	0.73	0.58350	P	0.000012	0.62929	D	0.119868	0.999221	0.46379	D	2.135	0.59519	M	2.47	0.14783	T	-2.07	0.47344	N	0.789	0.78546	-1.1296	0.01801	T	0.071	0.28773	T	10	0.41538587	0.56506	T	0.009611	0.25130	T	0.226	0.52472	0.576	0.70087	0.285698343383	0.28168	0.7260984624006555	0.72553	0.495345177098	0.48073	0.613367080688	0.54792	T	0.038213	0.40193	T	0.0231083	0.54800	T	-0.204583	0.54212	T	0.856589555740356	0.50742	D	0.888511	0.61827	D	0.15670556	0.35349	0.16465944	0.38132	0.15670556	0.35349	0.16465944	0.38131	-5.421	0.41971	T	.	.	0.413	0.60582	A	.;.;.;.	.;.;.;.	4.177536	0.62865	24.5	0.99834296748733842	0.91542	0.95188	0.63763	D	AEBI	0.489202	0.52721	N	0.528889332827991	0.68806	5.268122	0.552196596313538	0.71551	5.67199	0.999990197448612	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	4.697000	0.61467	11.147000	0.87239	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.8378:0.1622:0.0:0.0	10.530	0.44161	820	0.40914	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1609.98	34	chr8	23448806	.	A	G	1609.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.930e-01;DP=818;ExcessHet=0.0000;FS=0.679;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=0.089;SOR=0.811	GT:AD:DP:GQ:PL	0/1:55,68:123:99:1624,0,1329	20	0	1	0
chr8	24323989	24323989	T	G	exonic	ADAM28	.	nonsynonymous SNV	ADAM28:NM_001304351:exon9:c.T876G:p.I292M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.977	D	0.858	P	.	.	0.960	N	1.5	L	2.91	T	-1.086	T	0.039	T	0.34	2.162	13.18	-5.83	-1.415	-0.152	6.614	0.201	0.00972800318876	.	.	6.638e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs771447528	2.055e-05	2.052e-05	1.227e-05	2.892e-05	0.0003	1.458e-05	1.265e-05	0.0002	0.0002	0	0	0	0	0	0	0	3.319e-05	0.0003	1.973e-05	1.969e-05	2.573e-05	1.345e-05	0.0004	5.25e-06	2.46e-06	7.293e-05	3.03e-05	2.407e-05	0	0	0	0	0	0	0	0	0.0004	0.146	0.49613	T	0.163	0.31125	T	0.977	0.58535	D	0.858	0.61127	P	.	.	.	.	0.959813	0.26171	N	2.215	0.62545	M	2.91	0.10008	T	0.08	0.06739	N	0.485	0.51940	-1.0857	0.06281	T	0.039	0.16677	T	9	0.26112694	0.43568	T	0.009728	0.25404	T	0.201	0.48592	0.607	0.73945	0.154104182512	0.14974	0.5707424925897375	0.57002	0.25701354524	0.28266	0.32545799017	0.14246	T	0.009192	0.08381	T	-0.438198	0.01325	T	-0.545251	0.17784	T	0.127775248542176	0.15174	T	0.830717	0.49671	T	0.124038845	0.29113	0.1331205	0.31929	0.124038845	0.29113	0.1331205	0.31928	-6.403	0.49603	T	.	.	0.121	0.36053	B	.;.	.;.	1.615325	0.20636	14.84	0.97137978851349127	0.32529	0.45495	0.27551	N	AEFBI	0.182791	0.31012	N	-0.652673860953593	0.17383	0.8939999	-0.839211379111115	0.13547	0.7033713	8.141180957962E-4	0.07857	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.41	-5.83	0.02134	-0.453000	0.06853	-0.991000	0.06679	-0.703000	0.04025	0.771000	0.29368	0.002000	0.18203	0.591000	0.31164	0.0:0.4051:0.2605:0.3344	6.614	0.21963	684	0.59539	Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin|Reprolysin domain, adamalysin-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1149.98	34	chr8	24323989	.	T	G	1149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.626e+00;DP=779;ExcessHet=0.0000;FS=0.987;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.20;ReadPosRankSum=-1.588e+00;SOR=0.530	GT:AD:DP:GQ:PL	0/1:26,45:71:99:1164,0,653	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	0/1:169,52:221:99:.:.:336,0,3453	8	0	10	3
chr8	28780872	28780872	G	C	exonic	INTS9	.	nonsynonymous SNV	INTS9:NM_001145159:exon11:c.C1158G:p.H386Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.988	D	0.869	P	0.000	D	1.000	D	2.115	M	0.93	T	-0.886	T	0.159	T	0.906	4.104	21.1	0.193	0.076	0.581	10.624	0.284	0.016436562205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.942e-05	2.723e-06	1.375e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.943	0.53072	P	0.823	0.59197	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.935	0.51832	L	0.9	0.46412	T	-6.4	0.91184	D	0.958	0.97317	-0.8865	0.49231	T	0.159	0.49296	T	10	0.78347826	0.78049	D	0.016437	0.37697	T	0.284	0.60219	0.331	0.31681	0.611786747218	0.60866	0.7458400941079445	0.74530	1.09661947037	0.77599	0.802756369114	0.82384	T	0.389927	0.75023	T	0.189418	0.72910	D	0.0343095	0.72559	D	0.994060456752777	0.85148	D	0.789321	0.45144	T	0.9127507	0.92552	0.8257955	0.89911	0.9127507	0.92554	0.8257955	0.89912	-11.639	0.83227	D	.	.	0.945	0.89314	P	.;.;.	.;.;.	3.184076	0.43231	21.7	0.99337460911012421	0.60051	0.90823	0.52327	D	AEFBI	0.386581	0.46689	N	0.15838004896007	0.49210	3.123909	0.105560327046998	0.44831	2.757433	0.984078514391494	0.30659	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.97	0.193	0.14419	0.609000	0.23935	1.081000	0.23892	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.5112:0.0:0.4888:0.0	10.624	0.44686	533	0.73433	Beta-Casp domain|Beta-Casp domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	935.59	59	chr8	28780872	.	G	C	935.59	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-3.284e+00;DP=1729;ExcessHet=4.7172;FS=229.301;InbreedingCoeff=-0.2916;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=-6.400e-02;SOR=11.592	GT:AD:DP:GQ:PL	0/1:73,27:100:99:108,0,1403	12	0	9	0
chr8	31639995	31639995	G	C	exonic	NRG1	.	nonsynonymous SNV	NRG1:NM_013962:exon1:c.G11C:p.R4P,	.	.	388	1119	14	1	0	16	0.00709849	.	.	104274	not_provided	MedGen:C3661900	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0	D	0.895	P	0.18	B	.	.	1.000	D	.	.	-1.2	T	-0.643	T	0.236	T	0.208	1.920	12.38	1.98	1.332	3.653	5.162	0.301	0.997998152407	.	.	0	0	0	0	.	0	0	0	0.00011	17	154602	rs367543150	0.0004	0.0004	0.0004	0.0005	0.0043	0.0004	0.0004	0.0026	0.0021	0	0.0004	0.0034	0	6.752e-05	0.0043	0.0004	0.0007	0.0001	0.0006	0.0006	0.0007	0.0004	0.0009	0.0005	0.0004	0.0006	0.0005	7.273e-05	0	0.0009	0.0035	0	0	0.0102	0.0007	0.0010	0	0.0	0.91255	D	0.0	0.92824	D	0.895	0.49247	P	0.18	0.35854	B	.	.	.	.	1	0.81001	D	.	.	.	-1.2	0.78537	T	0.79	0.01893	N	0.532	0.56058	-0.6431	0.63013	T	0.236	0.60355	T	8	0.021544874	0.00518	T	0.997998	0.99997	D	0.301	0.62179	.	.	0.440148150062	0.43634	.	.	.	.	.	.	.	.	.	.	-0.325522	0.06456	T	-0.290807	0.45689	T	0.23651533785535	0.22258	T	0.473453	0.15758	T	.	.	.	.	.	.	.	.	-3.394	0.14976	T	.	.	0.198	0.51201	B	.;.	.;.	2.570187	0.33303	19.30	0.98015627080999068	0.37589	0.70733	0.34713	D	AEFDBCI	0.498809	0.53275	N	0.0635187341004716	0.44767	2.744761	0.0472924769976856	0.41941	2.528304	0.996339271546913	0.34675	0.497415	0.19182	0	0.59043	0.45803	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	2.91	1.98	0.25351	3.585000	0.53686	4.179000	0.42325	0.334000	0.19664	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.1749:0.0:0.8251:0.0	5.162	0.14392	875	0.30485	.;.	.	.	.	.	.	Uncertain significance	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	1479.98	33	chr8	31639995	.	G	C	1479.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.610e+00;DP=873;ExcessHet=0.0000;FS=2.973;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=1.01;SOR=0.468	GT:AD:DP:GQ:PL	0/1:75,71:146:99:1494,0,1724	20	0	1	0
chr8	54626461	54626461	C	T	exonic	RP1	.	nonsynonymous SNV	RP1:NM_006269:exon4:c.C2579T:p.T860I,	Retinitis pigmentosa 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.396	B	0.086	B	0.057	N	1.000	N	0	N	0.85	T	-1.052	T	0.049	T	0.124	1.359	10.47	-1.21	-0.206	-0.071	5.167	0.051	0.0134922662865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	2.237e-05	0	0	.	.	0	2.237e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.007	0.69154	D	0.396	0.34753	B	0.086	0.29521	B	0.057381	0.22486	N	0.419859	1	0.08975	N	0.69	0.16971	N	0.85	0.47130	T	-2.32	0.51478	N	0.092	0.07125	-1.0524	0.13736	T	0.049	0.20711	T	10	0.04807657	0.04211	T	0.013492	0.32933	T	0.051	0.14325	0.146	0.04941	0.262662153117	0.25859	0.11146658129359754	0.11075	0.0679227945487	0.07604	0.316951036453	0.12959	T	0.053029	0.29327	T	-0.267154	0.12076	T	-0.621524	0.11066	T	0.166790574789047	0.18359	T	0.470853	0.13943	T	0.11333717	0.26768	0.15483971	0.36322	0.11333717	0.26768	0.15483971	0.36321	-4.038	0.24370	T	0.11735315509079562	0.10711	0.180	0.39168	B	.	.	1.265013	0.16631	12.66	0.98484038706720278	0.42014	0.03337	0.08414	N	AEFDBI	0.024261	0.01472	N	-1.03837289511414	0.07817	0.364466	-1.00620093437213	0.09649	0.481241	0.139461802584696	0.17245	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.63	-1.21	0.09033	-0.115000	0.10713	1.195000	0.24794	-0.785000	0.03297	0.000000	0.06391	0.998000	0.33993	0.968000	0.53726	0.4334:0.2891:0.2775:0.0	5.167	0.14419	796	0.45353	.	.	.	.	.	.	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	2148.98	34	chr8	54626461	.	C	T	2148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=909;ExcessHet=0.0000;FS=6.337;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=0.632;SOR=1.130	GT:AD:DP:GQ:PL	0/1:102,82:184:99:2163,0,2626	20	0	1	0
chr8	64616168	64616168	T	C	exonic	CYP7B1	.	nonsynonymous SNV	CYP7B1:NM_001324112:exon3:c.A373G:p.I125V	Bile acid synthesis defect, congenital, 3, Autosomal recessive;Spastic paraplegia 5A, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	B	0.036	B	0.009	N	1.000	N	0.14	N	-0.29	T	-1.033	T	0.104	T	0.049	-1.380	0.025	-0.711	-0.203	0.122	6.315	0.042	0.0284247650802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	0	1.376e-06	2.991e-05	0	0	.	.	2.991e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.597	0.08025	T	0.044	0.21686	B	0.036	0.22909	B	0.008998	0.30568	N	0.397376	1	0.08975	N	0.515	0.13537	N	-0.29	0.67712	T	-0.28	0.11547	N	0.093	0.07262	-1.0331	0.19459	T	0.104	0.38316	T	9	0.06366226	0.08326	T	0.028425	0.51105	D	0.042	0.11227	0.586	0.71371	0.328752806141	0.32485	0.3100335922352077	0.30916	0.0663275487588	0.07396	0.341369271278	0.16643	T	0.105767	0.41653	T	-0.272458	0.11484	T	-0.629143	0.10480	T	0.0882415920495987	0.11007	T	0.311769	0.06085	T	0.0172313	0.00256	0.023817467	0.00395	0.0172313	0.00256	0.023817467	0.00395	-3.276	0.13429	T	0.2880057968352209	0.38423	0.085	0.10256	B	.	.	-0.873906	0.00970	0.038	0.25718248715531067	0.01199	0.11437	0.16633	N	AEFI	0.114720	0.22585	N	-1.2627606614016	0.04133	0.1859895	-1.28292284823881	0.04661	0.2203774	1.47470182086323E-4	0.05573	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.54	-0.711	0.10664	0.137000	0.15816	-0.410000	0.09352	-0.793000	0.03229	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.0:0.1778:0.1292:0.6929	6.315	0.20393	770	0.49152	.	.	.	.	.	.	Uncertain significance	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	5921.98	39	chr8	64616168	.	T	C	5921.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.690e+00;DP=1269;ExcessHet=0.0000;FS=2.472;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=-1.421e+00;SOR=0.541	GT:AD:DP:GQ:PL	0/1:251,253:504:99:5936,0,6678	20	0	1	0
chr8	67267206	67267206	T	G	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon12:c.A1697C:p.Y566S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.58	H	-0.14	T	0.359	D	0.556	D	0.978	4.406	23.3	5.64	2.151	7.963	15.858	0.827	0.185111105236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.615	0.93875	H	-0.14	0.65006	T	-8.21	0.96839	D	0.903	0.90363	0.359	0.88479	D	0.556	0.83808	D	10	0.9076985	0.90135	D	0.185111	0.85792	D	0.827	0.94503	0.744	0.87570	0.87037615458	0.86911	0.9092638382302259	0.90900	2.66344963391	0.98472	0.932812094688	0.99139	D	0.543141	0.84394	D	0.399337	0.89876	D	0.335844	0.89748	D	0.999809205532074	0.99090	D	0.994967	0.98297	D	0.9542225	0.96695	0.9234184	0.96638	0.9542225	0.96696	0.9234184	0.96638	-14.814	0.95401	D	.	.	0.994	0.95244	P	.	.	4.277610	0.65129	24.8	0.99153331616312945	0.53875	0.99263	0.93634	D	AEBI	0.859364	0.77703	D	0.963041333664288	0.94489	12.79763	0.891701606307143	0.95200	13.402	0.999999722328493	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.64	5.64	0.86480	7.941000	0.87167	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.858	0.78774	515	0.74782	Guanine nucleotide exchange factor, N-terminal	.	.	.	.	.	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	0.1818	460.15	39	chr8	67267206	.	T	G	460.15	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-2.883e+00;DP=1743;ExcessHet=0.6776;FS=182.454;InbreedingCoeff=-0.2727;MLEAC=6;MLEAF=0.273;MQ=60.00;MQRankSum=0.00;QD=1.02;ReadPosRankSum=2.03;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:90,36:126:65:.:.:65,0,1634	7	0	4	10
chr8	67299229	67299229	C	T	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon4:c.G439A:p.V147I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.998	D	0.995	D	0.000	D	1.000	D	1.315	L	1.82	T	-1.059	T	0.129	T	0.464	5.167	32	5.15	2.555	7.776	19.003	0.244	0.00485664365008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.144	0.33109	T	0.998	0.73220	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999944	0.51968	D	1.42	0.35681	L	1.82	0.25018	T	-0.83	0.22727	N	0.47	0.50598	-1.0588	0.12058	T	0.129	0.43867	T	10	0.44255733	0.58194	T	0.004857	0.12192	T	0.244	0.55061	0.419	0.46036	0.344740032716	0.34089	0.46458263451071363	0.46377	0.432702769526	0.43444	0.796535730362	0.81436	T	0.173112	0.52185	T	-0.0537433	0.43877	T	-0.314975	0.43122	T	0.922568202018738	0.58277	D	0.989121	0.96387	D	0.31868398	0.54528	0.16852483	0.38818	0.31868398	0.54528	0.16852483	0.38817	-7.853	0.60064	D	.	.	0.089	0.12276	B	.	.	4.127652	0.61742	24.4	0.99858364901069363	0.93729	0.99671	0.98530	D	AEFBI	0.844558	0.76151	D	0.691477747293272	0.79072	7.001596	0.703445623715783	0.82640	7.817407	0.999999999999729	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.15	5.15	0.70287	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.003	0.92819	440	0.80101	Mon2, dimerisation and cyclophilin-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.125	64.79	34	chr8	67299229	.	C	T	64.79	.	AC=4;AF=0.125;AN=32;BaseQRankSum=-1.020e+00;DP=397;ExcessHet=0.8031;FS=237.740;InbreedingCoeff=-0.1202;MLEAC=4;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=1.06;ReadPosRankSum=-4.370e-01;SOR=8.497	GT:AD:DP:GQ:PL	0/1:19,9:28:35:35,0,292	12	0	4	5
chr8	73292779	73292782	AACC	-	exonic	RPL7	.	frameshift deletion	RPL7:NM_000971:exon2:c.30_33del:p.E10Dfs*18,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	362.71	76	chr8	73292778	.	GAACC	G	362.71	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.040e+00;DP=1647;ExcessHet=0.3300;FS=137.042;InbreedingCoeff=-0.0759;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=1.41;ReadPosRankSum=1.38;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,13:94:99:0|1:73292778_GAACC_G:142,0,3227:73292778	18	0	3	0
chr8	73292779	73292779	A	0	exonic	RPL7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	131.25	81	chr8	73292779	.	A	G,*	131.25	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=-2.333e+00;DP=1586;ExcessHet=0.6776;FS=162.685;InbreedingCoeff=-0.1063;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=0.38;ReadPosRankSum=0.861;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:81,0,13:94:99:0|1:73292778_GAACC_G:142,385,3652,0,3266,3227:73292778	17	0	1	0
chr8	73292781	73292781	C	G	exonic	RPL7	.	nonsynonymous SNV	RPL7:NM_000971:exon2:c.G31C:p.V11L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.045	B	0.005	B	0.004	U	1.000	D	0.79	N	.	.	-1.039	T	0.071	T	0.151	0.788	8.155	1.89	0.549	0.308	6.001	0.037	0.0139334947433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.437e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.952	0.02136	T	0.854	0.03467	T	0.045	0.21781	B	0.005	0.11217	B	0.003767	0.34511	U	0.183686	0.999531	0.81001	D	1.77	0.45869	L	.	.	.	1.0	0.01408	N	0.172	0.18376	-1.0393	0.17526	T	0.071	0.28936	T	9	0.04261172	0.03028	T	0.013933	0.33698	T	0.037	0.09474	0.223	0.14665	0.250512400709	0.24649	0.1907967873718953	0.18997	0.377967339066	0.39223	0.499058246613	0.38697	T	0.104702	0.41449	T	-0.147378	0.28722	T	-0.449475	0.27754	T	0.341861397027969	0.26697	T	0.692631	0.30204	T	0.053786583	0.10227	0.03245266	0.01983	0.053786583	0.10227	0.03245266	0.01983	-5.272	0.39665	T	.	.	0.186	0.40164	B	.	.	3.113271	0.42004	21.5	0.92328883612177748	0.21725	0.85326	0.44448	D	AEFDBHCI	0.200703	0.32741	N	-0.616447560925101	0.18449	0.9579671	-0.483828824768087	0.22598	1.228242	0.999967735189877	0.48965	0.733237	0.96898	0	0.600757	0.49542	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	3.68	1.89	0.24700	0.406000	0.20754	0.851000	0.22138	0.589000	0.31548	0.948000	0.32982	0.988000	0.31051	0.996000	0.76049	0.0:0.7704:0.0:0.2296	6.001	0.18750	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	0.1538	134.68	74	chr8	73292781	.	C	G,*	134.68	.	AC=1,3;AF=0.038,0.115;AN=26;BaseQRankSum=-1.504e+00;DP=1513;ExcessHet=0.6776;FS=104.475;InbreedingCoeff=-0.2386;MLEAC=1,4;MLEAF=0.038,0.154;MQ=60.00;MQRankSum=0.00;QD=0.40;ReadPosRankSum=1.71;SOR=8.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:70,4,13:87:99:1|0:73292778_GAACC_G:258,341,2163,0,1976,3189:73292778	9	0	1	8
chr8	73292781	73292781	C	0	exonic	RPL7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	134.68	74	chr8	73292781	.	C	G,*	134.68	.	AC=1,3;AF=0.038,0.115;AN=26;BaseQRankSum=-1.504e+00;DP=1513;ExcessHet=0.6776;FS=104.475;InbreedingCoeff=-0.2386;MLEAC=1,4;MLEAF=0.038,0.154;MQ=60.00;MQRankSum=0.00;QD=0.40;ReadPosRankSum=1.71;SOR=8.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:70,4,13:87:99:1|0:73292778_GAACC_G:258,341,2163,0,1976,3189:73292778	9	0	1	8
chr8	73292782	73292782	-	GGGG	exonic	RPL7	.	frameshift insertion	RPL7:NM_000971:exon2:c.29_30insCCCC:p.E10Dfs*11,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	523.71	70	chr8	73292782	.	C	CGGGG	523.71	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.625e+00;DP=1380;ExcessHet=0.6776;FS=99.991;InbreedingCoeff=-0.1354;MLEAC=4;MLEAF=0.105;MQ=60.00;MQRankSum=0.00;QD=1.57;ReadPosRankSum=1.67;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,13:93:99:0|1:73292778_GAACC_G:145,0,3206:73292778	15	0	4	2
chr8	86064021	86064021	T	G	exonic	PSKH2	.	nonsynonymous SNV	PSKH2:NM_033126:exon2:c.A796C:p.S266R,	.	.	425	1040	55	2	0	59	0.027583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.91	P	0.821	P	.	.	1.000	N	1.78	L	0.94	T	-0.863	T	0.196	T	0.332	3.855	19.58	4.98	1.850	7.510	12.616	0.124	.	0.0030	0.00898562	0.0097	0.0015	0.0038	0.0001	0.0039	0.0050	0.0055	0.0453	0.0087192	1348	154602	rs34037815	0.0065	0.0065	0.0052	0.0078	0.0467	0.0064	0.0063	0.0455	0.0450	0.0015	0.0029	0.0110	0.0001	0.0031	0.0250	0.0038	0.0078	0.0467	0.0046	0.0046	0.0040	0.0053	0.0437	0.0043	0.0042	0.0389	0.0370	0.0012	0.0198	0.0041	0.0115	0	0.0037	0.0204	0.0040	0.0038	0.0437	0.001	0.78490	D	0.038	0.51421	D	0.91	0.50240	P	0.821	0.59116	P	.	.	.	.	0.962919	0.26046	N	2.2	0.62015	M	0.94	0.43672	T	-2.16	0.48850	N	0.319	0.35938	-0.8626	0.51075	T	0.196	0.55056	T	9	0.0032428503	0.00055	T	.	.	.	0.124	0.34239	0.192	0.10304	0.657976263744	0.65511	0.24922915946039909	0.24836	0.328627424964	0.34968	0.406651437283	0.25993	T	0.003406	0.02809	T	-0.442804	0.01245	T	-0.375977	0.36192	T	0.0261478254670413	0.01425	T	0.885811	0.61165	D	0.5636708	0.70712	0.586686	0.76028	0.5636708	0.70713	0.586686	0.76029	-6.148	0.47501	T	.	.	0.324	0.54782	B	.	.	3.875295	0.56290	23.7	0.99816952669844872	0.90061	0.97336	0.74107	D	AEFBIJ	0.878919	0.80449	D	0.570515308461417	0.71340	5.635989	0.553274389585351	0.71626	5.683463	0.999999998835541	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.98	4.98	0.65679	7.492000	0.80315	3.025000	0.36018	0.665000	0.62972	1.000000	0.71638	0.997000	0.33255	0.985000	0.61073	0.0:0.0:0.0:1.0	12.616	0.55934	487	0.76954	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	0.07143	3717.68	41	chr8	86064021	.	T	G	3717.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.072e+00;DP=1038;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=0.579;SOR=0.708	GT:AD:DP:GQ:PL	0/1:49,62:111:99:1464,0,1199	18	0	3	0
chr8	91343424	91343424	G	A	exonic	SLC26A7	.	nonsynonymous SNV	SLC26A7:NM_001282357:exon9:c.G195A:p.M65I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.008	B	0.005	B	0.008	N	0.884	D	0.945	L	-2.93	D	0.162	D	0.604	D	0.295	3.173	16.62	4.09	1.501	3.782	12.867	0.337	0.0547059507034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.45393	D	0.301	0.20486	T	0.005	0.14655	B	0.005	0.11217	B	0.007817	0.31183	N	0.376195	0.88366	0.35803	D	1.5	0.37844	L	-2.93	0.91800	D	-1.81	0.42575	N	0.509	0.54496	0.162	0.85255	D	0.604	0.85919	D	10	0.4699203	0.59799	T	0.054706	0.65957	D	0.337	0.65913	0.641	0.77795	0.76689798617	0.76476	0.6822345640681267	0.68162	0.120734834091	0.13598	0.537148177624	0.44043	T	0.524812	0.83448	D	0.0412045	0.57204	T	-0.178589	0.56653	T	0.646983358988038	0.38334	D	0.737426	0.35417	T	0.41354498	0.61660	0.39694795	0.64323	0.41354498	0.61660	0.39694795	0.64323	-3.466	0.15959	T	.	.	0.552	0.66880	A	.;.;.;.;.	.;.;.;.;.	3.005497	0.40175	21.1	0.99301883417435632	0.58650	0.86501	0.45794	D	AEFCI	0.443887	0.50101	N	-0.103009196148543	0.37261	2.165325	0.0791229019967545	0.43499	2.650476	0.0119906165518572	0.12263	0.55562	0.30534	0	0.615948	0.52940	0	0.547309	0.15389	0	0.665031	0.64506	0	.	.	5.89	4.09	0.47038	3.872000	0.55798	8.582000	0.77650	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1332:0.0:0.8668:0.0	12.867	0.57334	776	0.48302	SLC26A/SulP transporter domain;SLC26A/SulP transporter domain;SLC26A/SulP transporter domain;SLC26A/SulP transporter 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	3043.98	34	chr8	91343424	.	G	A	3043.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.040e-01;DP=892;ExcessHet=0.0000;FS=4.999;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.22;ReadPosRankSum=3.01;SOR=1.030	GT:AD:DP:GQ:PL	0/1:85,115:200:99:3058,0,2122	20	0	1	0
chr8	94372208	94372208	T	C	exonic	RAD54B	.	nonsynonymous SNV	RAD54B:NM_001205263:exon13:c.A2143G:p.I715V	Colon cancer, somatic;Lymphoma, non-Hodgkin, somatic	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.000	D	1.000	D	0.275	N	-2.38	D	-0.725	T	0.273	T	0.045	-0.446	1.929	3.14	0.970	2.526	5.582	0.229	0.0195149097962	0.0007	0.000798722	0.0009	0	0.0007	0	0.0003	0.0014	0.0023	0.0003	0.000815	126	154602	rs150017319	0.0008	0.0008	0.0008	0.0008	0.0021	0.0008	0.0007	0.0012	0.0009	3.006e-05	0.0004	0.0040	0	9.387e-05	0.0021	0.0009	0.0009	0.0002	0.0008	0.0008	0.0008	0.0008	0.0013	0.0007	0.0006	0.0009	0.0007	0.0002	0	0.0013	0.0055	0	0	0	0.0010	0.0014	0.0006	0.998	0.01934	T	0.868	0.03333	T	0.001	0.07471	B	0.001	0.04355	B	0.000200	0.48115	D	0.231727	0.996812	0.22893	N	0.345	0.11182	N	-2.38	0.88298	D	0.01	0.06868	N	0.125	0.13769	-0.7249	0.59220	T	0.273	0.64422	T	10	0.011298269	0.00248	T	0.019515	0.41904	T	0.229	0.52916	.	.	0.524063890018	0.52051	0.2412628639019956	0.24040	0.070625434938	0.07910	0.283097863197	0.07928	T	0.038798	0.24967	T	-0.431452	0.01453	T	-0.448875	0.27821	T	0.00702223614516556	0.00080	T	0.642236	0.25918	T	0.018454101	0.00367	0.025769943	0.00635	0.018454101	0.00366	0.025769943	0.00635	-3.222	0.12751	T	.	.	0.073	0.04640	B	.;.	.;.	1.500233	0.19289	14.19	0.43477681166239329	0.03276	0.67386	0.33414	D	AEFBI	0.078110	0.15754	N	-0.723481638166881	0.15363	0.7735746	-0.485776077356634	0.22545	1.225039	0.381955725440831	0.19969	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.65	3.14	0.35196	2.556000	0.45524	5.540000	0.48867	-0.115000	0.14600	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.3961:0.1143:0.0:0.4896	5.582	0.16540	702	0.57624	.;.	.	.	.	.	.	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	925.98	37	chr8	94372208	.	T	C	925.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.013e+00;DP=766;ExcessHet=0.0000;FS=1.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=-1.130e+00;SOR=0.495	GT:AD:DP:GQ:PL	0/1:43,42:85:99:940,0,1049	20	0	1	0
chr8	97930977	97930977	C	T	exonic	MATN2	.	nonsynonymous SNV	MATN2:NM_001317748:exon3:c.C167T:p.A56V	.	.	431	1005	81	5	0	91	0.0433127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.754	P	0.311	B	0.006	N	1.000	D	0.57	N	-1.14	T	-0.761	T	0.161	T	0.191	2.979	15.93	4.76	2.673	3.983	5.367	0.228	.	0.0024	0.00379393	0.0051	0.0007	0.0047	0	0.0011	0.0045	0.0214	0.0167	0.0044113	682	154602	rs138635803	0.0033	0.0033	0.0028	0.0038	0.0368	0.0032	0.0032	0.0328	0.0312	0.0008	0.0049	0.0187	2.522e-05	0.0008	0.0368	0.0020	0.0056	0.0157	0.0028	0.0028	0.0025	0.0031	0.0126	0.0026	0.0025	0.0101	0.0092	0.0003	0	0.0052	0.0213	0.0002	9.418e-05	0.0340	0.0025	0.0080	0.0126	0.256	0.17126	T	0.477	0.12704	T	0.363	0.37483	B	0.311	0.41430	B	0.006445	0.32025	N	0.220361	0.859202	0.81001	D	0.695	0.17993	N	-1.14	0.77843	T	1.46	0.00775	N	0.165	0.27197	-0.7608	0.57362	T	0.161	0.49681	T	10	0.01770696	0.00380	T	.	.	.	0.228	0.52768	.	.	0.836741868336	0.83518	0.530535038014803	0.52977	0.192949307211	0.21626	0.479947000742	0.36049	T	0.015811	0.13192	T	-0.398691	0.02362	T	-0.333144	0.41118	T	0.0253921043202583	0.01324	T	0.845515	0.52437	T	0.065625004	0.14045	0.07151575	0.15323	0.065625004	0.14044	0.07151575	0.15323	-1.29	0.01734	T	.	.	0.13	0.28377	B	.;.;.;.	.;.;.;.	2.482416	0.32012	18.91	0.9952394340556775	0.69407	0.61361	0.31462	D	AEFDBI	0.115443	0.22698	N	0.102348143987851	0.46573	2.895542	0.257965852461295	0.53105	3.481049	0.999999994929606	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.64	4.76	0.60189	4.001000	0.56758	3.327000	0.37595	0.545000	0.25583	1.000000	0.71638	0.998000	0.33993	0.996000	0.76049	0.0:0.729:0.0:0.271	5.367	0.15419	853	0.34956	.;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	0.04762	1381.11	41	chr8	97930977	.	C	T	1381.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.730e-01;DP=803;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=-4.890e-01;SOR=0.755	GT:AD:DP:GQ:PL	0/1:35,17:52:99:426,0,1019	19	0	2	0
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|1:84,77,0:161:99:0|1:102560764_C_G:1914,0,2241,2166,2472,4638:102560764	9	0	2	2
chr8	119846995	119846995	A	C	exonic	DSCC1	.	nonsynonymous SNV	DSCC1:NM_024094:exon4:c.T572G:p.I191S,	.	.	448	1071	3	0	0	3	0.0013986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.999	D	0.984	D	0.000	D	1.000	D	2.865	M	0.55	T	-0.339	T	0.294	T	0.98	3.292	17.06	5.21	1.964	5.885	13.655	0.520	0.0670795510791	0.0035	0.000998403	0.0036	0.0004	0.0036	0	0.0006	0.0055	0.0055	0.0005	0.0036869	570	154602	rs61753750	0.0041	0.0041	0.0042	0.0041	0.0051	0.0041	0.0040	0.0049	0.0049	0.0006	0.0030	0.0009	0	0.0006	0.0030	0.0051	0.0027	0.0005	0.0026	0.0026	0.0029	0.0022	0.0041	0.0024	0.0023	0.0037	0.0036	0.0008	0	0.0033	0.0009	0	0.0007	0.0034	0.0041	0.0080	0.0006	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.105	0.87672	M	0.55	0.54728	T	-5.1	0.83027	D	0.959	0.96871	-0.3389	0.73876	T	0.294	0.66602	T	10	0.0528602	0.05385	T	0.06708	0.70063	D	0.520	0.79583	.	.	0.74231337688	0.74000	0.9072185091075976	0.90694	1.015795043	0.74944	0.563850402832	0.47810	T	0.357688	0.72436	T	-0.00440514	0.51045	T	0.227435	0.84544	D	0.0652603585097393	0.07970	T	0.913209	0.69058	D	0.7840102	0.82901	0.68510467	0.81486	0.7840102	0.82903	0.68510467	0.81487	-11.421	0.81916	D	.	.	0.244	0.47805	B	.	.	4.247511	0.64452	24.7	0.99224553770171542	0.56026	0.98014	0.78880	D	AEFBI	0.665161	0.63408	D	0.661381521618492	0.77107	6.611514	0.579610829695313	0.73481	5.977297	0.998771411024771	0.37645	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.21	5.21	0.72005	5.922000	0.69759	11.056000	0.85368	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.827000	0.38976	1.0:0.0:0.0:0.0	13.655	0.61810	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2105.98	37	chr8	119846995	.	A	C	2105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.015e+00;DP=868;ExcessHet=0.0000;FS=1.920;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=-6.310e-01;SOR=0.555	GT:AD:DP:GQ:PL	0/1:77,90:167:99:2120,0,1818	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	0/1:102,39:141:55:55,0,1775	7	0	7	7
chr8	134602073	134602073	G	A	exonic	ZFAT	.	nonsynonymous SNV	ZFAT:NM_001174157:exon5:c.C1460T:p.P487L	.	.	403	1117	2	0	0	2	0.000894454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.001	B	0.001	B	0.970	N	1.000	N	0.205	N	3.2	T	-0.915	T	0.014	T	0.094	-0.483	1.777	3.09	0.323	0.235	7.971	0.015	.	.	0.00319489	0.0022	0	0.0002	0.0008	0	0.0002	0.0075	0.0135	0.00174	269	154602	rs202155119	0.0008	0.0008	0.0004	0.0012	0.0113	0.0008	0.0007	0.0107	0.0104	2.99e-05	0	0.0009	0.0002	3.838e-05	0.0003	9.9e-05	0.0009	0.0113	0.0005	0.0005	0.0004	0.0006	0.0124	0.0004	0.0004	0.0099	0.0090	0	0	0	0.0009	0.0004	0	0	0.0001	0.0014	0.0124	0.794	0.05436	T	0.65	0.06738	T	0.001	0.07471	B	0.001	0.04355	B	0.970218	0.08164	N	0.986238	1	0.08975	N	0.11	0.08516	N	3.2	0.08014	T	-0.66	0.25986	N	0.064	0.04790	-0.9151	0.46207	T	0.014	0.05608	T	10	0.0028042197	0.00044	T	.	.	.	0.015	0.02232	0.312	0.28612	0.112648838833	0.10856	0.10679906818570725	0.10609	0.258302563221	0.28385	0.24098727107	0.02880	T	0.012584	0.31873	T	-0.708946	0.00032	T	-0.780741	0.02431	T	0.00603452469084682	0.00066	T	0.80472	0.45238	T	0.023799147	0.01152	0.025635429	0.00615	0.023799147	0.01152	0.025635429	0.00615	-3.689	0.19156	T	.	.	0.065	0.02342	B	.;.;.;.;.;.	.;.;.;.;.;.	0.484808	0.08540	5.306	0.69504370162010909	0.08993	0.02689	0.07326	N	ALL	0.028209	0.02443	N	-1.13143862951588	0.06091	0.2794571	-1.07121802744512	0.08270	0.4059255	0.9999999994297	0.74766	0.638212	0.43195	0	0.484254	0.07192	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	6.07	3.09	0.34677	0.386000	0.20429	0.578000	0.19676	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3904:0.0:0.6096:0.0	7.971	0.29291	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	1363.98	33	chr8	134602073	.	G	A	1363.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.24;DP=838;ExcessHet=0.0000;FS=1.632;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.21;ReadPosRankSum=-4.620e-01;SOR=0.538	GT:AD:DP:GQ:PL	0/1:47,49:96:99:1378,0,1208	20	0	1	0
chr8	141168331	141168331	C	T	exonic	DENND3	.	nonsynonymous SNV	DENND3:NM_001352890:exon13:c.C2081T:p.A694V	.	.	429	1090	3	0	0	3	0.00137426	.	.	758717	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.2	T	0.009	B	0.004	B	0.061	N	1.000	N	-0.69	N	2.95	T	-0.990	T	0.010	T	0.199	0.611	7.293	-0.223	0.018	0.058	1.032	0.028	.	.	0.00499201	0.0029	9.617e-05	8.64e-05	0.0005	0	0	0.0011	0.0205	0.0024321	376	154602	rs201427766	0.0012	0.0012	0.0007	0.0017	0.0193	0.0012	0.0011	0.0185	0.0182	2.987e-05	4.472e-05	0	0.0001	0	0.0009	9.892e-06	0.0012	0.0193	0.0007	0.0007	0.0004	0.0011	0.0224	0.0006	0.0006	0.0190	0.0177	4.816e-05	0	0	0	0.0004	0	0	0	0	0.0224	0.261	0.17126	T	0.206	0.27679	T	0.005	0.15093	B	0.002	0.10090	B	0.060700	0.22229	N	0.494473	1	0.08975	N	-0.69	0.01958	N	2.95	0.14038	T	-0.99	0.28906	N	0.031	0.03175	-0.9895	0.32727	T	0.010	0.03627	T	10	0.0021252036	0.00031	T	.	.	.	0.028	0.06331	0.213	0.13210	0.0482279557977	0.04254	0.08657554666944364	0.08591	0.418471938286	0.42436	0.233252421021	0.02217	T	0.011979	0.10603	T	-0.643163	0.00080	T	-0.680379	0.06961	T	0.0165594952280453	0.00418	T	0.70513	0.31558	T	0.015344161	0.00134	0.02437874	0.00457	0.018180596	0.00339	0.029553236	0.01307	-4.241	0.27683	T	.	.	0.084	0.11269	B	.;.;.	.;.;.	0.464383	0.08339	5.091	0.97907824476310479	0.36787	0.14630	0.18504	N	AEFBHCI	0.066553	0.13039	N	-1.14070705466686	0.05934	0.2718678	-1.0988372922775	0.07723	0.3768197	0.999996373497582	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.616094	0.41390	0	0.714379	0.83352	0	.	.	5.55	-0.223	0.12472	0.070000	0.14440	-2.126000	0.04174	-0.777000	0.03376	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2139:0.3181:0.1022:0.3658	1.032	0.01443	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	1	0	0	1	0	0	0	0.02381	2308.98	38	chr8	141168331	.	C	T	2308.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.420e-01;DP=862;ExcessHet=0.0000;FS=1.211;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=0.561;SOR=0.598	GT:AD:DP:GQ:PL	0/1:79,88:167:99:2323,0,2036	20	0	1	0
chr8	141434568	141434568	G	C	exonic	MROH5	.	unknown	UNKNOWN,	.	.	405	1116	1	0	0	1	0.000447828	.	.	2308378	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0	0	0	0	0	0	0	0	.	.	.	rs201864929	1.548e-05	1.71e-05	1.393e-05	1.707e-05	0.0002	1.014e-05	8.66e-06	1.196e-05	9.72e-06	0	0	0	0	0	0.0002	1.831e-05	1.696e-05	0	1.971e-05	1.97e-05	1.285e-05	2.69e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.11912	.	.	.	.	.	.	.	0.05662766	0.06377	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	.	.	.	.	0.330058038235	0.14942	T	.	.	.	-0.277362	0.10950	T	-0.636188	0.09949	T	.	.	.	0.262774	0.04248	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25331	B	.	.	-0.080539	0.03758	0.783	0.59072100652836756	0.06138	0.07935	0.13921	N	AEFDGBCI	0.030032	0.02944	N	.	.	.	.	.	.	0.999999995883454	0.74766	0.608966	0.35542	0	0.550933	0.16991	0	0.769059	0.98459	0	0.613276	0.41899	0	.	.	2.97	-5.93	0.02067	-0.206000	0.09400	-0.902000	0.06987	-0.112000	0.15009	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.3708:0.3666:0.2625:0.0	5.921	0.18319	868	0.31772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	615.98	33	chr8	141434568	.	G	C	615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=761;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.44;ReadPosRankSum=-7.540e-01;SOR=0.765	GT:AD:DP:GQ:PL	0/1:46,27:73:99:630,0,1105	20	0	1	0
chr8	141467518	141467518	A	C	exonic	MROH5	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0002	0	0	0	0	0	0	0.0016	0.0001552	24	154602	rs550529090	7.185e-05	7.935e-05	3.463e-05	0.0001	0.0012	6.03e-05	5.631e-05	0.0010	0.0010	0	0	0	0	0	0	0	1.701e-05	0.0012	5.262e-05	5.25e-05	3.86e-05	6.727e-05	0.0017	2.559e-05	1.832e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	0.43223	.	.	.	.	.	.	.	0.0108855665	0.00240	T	.	.	.	.	.	.	.	0.0551355673512	0.04727	.	.	.	.	0.426670432091	0.28753	T	.	.	.	-0.500696	0.00567	T	-0.511006	0.21212	T	.	.	.	0.525947	0.17303	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.19879	B	.	.	2.048561	0.26042	16.98	0.25576820890446667	0.01186	0.19662	0.20747	N	AEFDGBHI	0.052877	0.09479	N	.	.	.	.	.	.	0.0835053814759024	0.15930	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.4	1.3	0.20778	0.103000	0.15128	3.046000	0.36101	-0.679000	0.04243	0.807000	0.29812	1.000000	0.68203	0.008000	0.08271	0.1386:0.0:0.643:0.2184	4.396	0.10794	878	0.29785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	854.98	36	chr8	141467518	.	A	C	854.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.309e+00;DP=826;ExcessHet=0.0000;FS=0.864;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=0.530;SOR=0.911	GT:AD:DP:GQ:PL	0/1:39,39:78:99:869,0,935	20	0	1	0
chr8	142464674	142464674	G	C	exonic	ADGRB1	.	nonsynonymous SNV	ADGRB1:NM_001702:exon2:c.G476C:p.R159P,	.	.	415	1088	19	0	0	19	0.00865604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.001	B	0.775	U	1.000	N	1.01	L	1.57	T	-0.988	T	0.038	T	0.149	0.392	6.131	-9.26	-1.854	-3.532	1.314	0.028	.	.	0.0131789	0.0033	0	0	0.0724	0	0.0035	0	0.0020	0.0013001	201	154602	rs113034224	0.0041	0.0039	0.0041	0.0042	0.0486	0.0040	0.0040	0.0467	0.0459	0.0004	0.0011	8.169e-05	0.0486	0.0014	0.0073	0.0030	0.0067	0.0026	0.0037	0.0037	0.0034	0.0040	0.0528	0.0034	0.0033	0.0477	0.0456	0.0007	0	0.0018	0.0003	0.0528	0.0006	0.0068	0.0028	0.0047	0.0054	0.145	0.25154	T	0.021	0.58089	D	.	.	.	.	.	.	0.775152	0.06621	U	1.180340	1	0.08975	N	.	.	.	1.57	0.29342	T	-2.03	0.46673	N	0.088	0.07535	-0.9883	0.33027	T	0.038	0.16333	T	10	0.0026381314	0.00041	T	.	.	.	0.028	0.06331	.	.	0.0675242888579	0.06100	0.33444488533176336	0.33357	1.64572086695	0.89461	0.574541509151	0.49318	T	0.136024	0.46817	T	-0.678403	0.00049	T	-0.710011	0.05295	T	0.0228219247256037	0.01003	T	0.475952	0.14261	T	0.2545983	0.48489	0.19434386	0.43053	0.2545983	0.48489	0.19434386	0.43052	-1.347	0.01479	T	.	.	0.062	0.01810	B	.;.;.	.;.;.	-0.836702	0.01037	0.044	0.80002862075749293	0.13000	0.02194	0.06410	N	AEFDBHCI	0.104562	0.20918	N	-1.60828168910177	0.01223	0.05320969	-1.75686229923967	0.00908	0.04059652	0.999999503322877	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	4.63	-9.26	0.00563	-4.991000	0.00190	-4.788000	0.01986	-0.828000	0.02899	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2956:0.2604:0.2825:0.1615	1.314	0.01976	964	0.07719	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1526.98	33	chr8	142464674	.	G	C	1526.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.173;DP=861;ExcessHet=0.0000;FS=0.617;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=1.37;SOR=0.763	GT:AD:DP:GQ:PL	0/1:75,67:142:99:1541,0,1789	20	0	1	0
chr8	142664963	142664963	C	T	exonic	JRK	.	nonsynonymous SNV	JRK:NM_001077527:exon2:c.G1096A:p.V366M	.	.	.	.	.	.	.	.	.	.	.	2270006	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9e-05	.	3.421e-05	0.0004	0	0	0	0	0	0	1.29e-05	2	154602	rs375937258	2.818e-05	2.808e-05	2.876e-05	2.768e-05	5.886e-05	1.716e-05	1.402e-05	1.226e-05	8.21e-06	5.886e-05	5.351e-05	0	0	0	0	2.321e-05	9.378e-05	4.62e-05	0.0001	0.0001	0.0001	8.074e-05	0.0003	7.094e-05	5.75e-05	0.0002	0.0002	0.0003	0	6.541e-05	0	0	0	0	2.941e-05	0	0	.	.	.	0.017	0.60337	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87	0.46412	T	.	.	.	0.239	0.32148	.	.	.	.	.	.	.	0.12650168	0.24050	T	.	.	.	.	.	.	.	0.389904358541	0.38601	0.2975184485728843	0.29664	.	.	0.464331150055	0.33903	T	.	.	.	-0.295088	0.09131	T	-0.371507	0.36713	T	.	.	.	0.686731	0.29555	T	0.028707623	0.02250	0.17093888	0.39240	0.028707623	0.02249	0.17093888	0.39239	-5.266	0.39606	T	.	.	0.342	0.57603	A	.;.;.;.	.;.;.;.	3.308983	0.45458	22.1	0.79381568898499844	0.12716	0.35218	0.25250	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999978341194096	0.50053	0.256867	0.04430	0	0.158463	0.03841	0	0.320204	0.05785	0	0.221052	0.04502	0	0.129805	0.25693	3.67	2.78	0.31702	0.932000	0.28484	4.167000	0.42248	-0.172000	0.11096	0.715000	0.28771	0.999000	0.35428	0.039000	0.14166	0.0:0.8889:0.0:0.1111	10.170	0.42082	982	0.03397	.;.;DDE superfamily endonuclease domain;DDE superfamily endonuclease 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	1400.98	40	chr8	142664963	.	C	T	1400.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.82;DP=1227;ExcessHet=0.0000;FS=1.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=0.325;SOR=0.494	GT:AD:DP:GQ:PL	0/1:52,52:104:99:1415,0,1224	20	0	1	0
chr8	143429787	143429789	TGG	-	exonic	MAFA	.	nonframeshift deletion	MAFA:NM_201589:exon1:c.618_620del:p.H208del,	.	.	264	254	1	13	990	1017	0.0504673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	51136.5	54	chr8	143429783	.	ATGGTGG	ATGG,A	51136.5	.	AC=38,4;AF=0.905,0.095;AN=42;BaseQRankSum=1.21;DP=1755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=38,4;MLEAF=0.905,0.095;MQ=60.00;MQRankSum=0.00;QD=34.47;ReadPosRankSum=0.693;SOR=0.738	GT:AD:DP:GQ:PL	1/1:0,56,0:56:99:2519,169,0,2519,169,2519	0	17	0	0
chr8	143538782	143538782	C	A	exonic	ZC3H3	.	nonsynonymous SNV	ZC3H3:NM_015117:exon2:c.G585T:p.E195D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.996	D	0.867	P	0.000	D	0.982	N	1.995	M	2.16	T	-1.079	T	0.080	T	0.624	2.166	13.20	3.09	1.208	0.147	6.425	0.185	0.0245196302559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.533	0.10000	T	0.996	0.68779	D	0.867	0.61644	P	0.000024	0.55875	D	0.000000	0.982195	0.24982	N	2.125	0.59049	M	2.16	0.19166	T	-0.42	0.14193	N	0.249	0.28146	-1.0794	0.07465	T	0.080	0.31675	T	10	0.12095612	0.22921	T	0.02452	0.47508	T	0.185	0.45933	0.063	0.00257	0.043077524339	0.03247	0.10038454787476721	0.09969	.	.	0.484514206648	0.36678	T	0.010465	0.09450	T	-0.0920981	0.37731	T	-0.370069	0.36882	T	0.735010147094727	0.42471	D	0.738226	0.35599	T	0.08666655	0.20152	0.07217716	0.15541	0.08666655	0.20152	0.07217716	0.15541	-3.797	0.20760	T	.	.	0.127	0.27009	B	.	.	2.821127	0.37167	20.4	0.99826239691327057	0.90852	0.19743	0.20778	N	AEFDBCI	0.054555	0.09929	N	-0.124496228193287	0.36328	2.098365	-0.241286987509275	0.30073	1.690128	0.999972464006597	0.50053	0.736574	0.97449	0	0.697927	0.68747	0	0.732669	0.93749	0	0.635551	0.53088	0	.	.	5.23	3.09	0.34677	-0.042000	0.12016	.	.	-0.176000	0.10722	0.000000	0.06391	0.991000	0.31484	0.285000	0.24139	0.0:0.6032:0.2026:0.1942	6.425	0.20969	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	0	0	0	0	0.02381	2269.98	120	chr8	143538782	.	C	A	2269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.762e+00;DP=1919;ExcessHet=0.0000;FS=0.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-1.224e+00;SOR=0.786	GT:AD:DP:GQ:PL	0/1:82,88:170:99:2284,0,2207	20	0	1	0
chr8	144116115	144116115	C	T	exonic	WDR97	.	nonsynonymous SNV	WDR97:NM_001316309:exon24:c.C4691T:p.A1564V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.028	B	0.004	B	.	.	1.000	N	.	.	0.2	T	-1.001	T	0.051	T	0.01	0.041	4.229	-5.91	-0.925	-1.203	0.191	0.134	0.0125728293798	.	.	.	.	.	.	.	.	.	.	.	.	.	rs979737780	4.526e-05	5.088e-05	5.644e-05	3.627e-05	8.807e-05	2.826e-05	2.331e-05	3.76e-05	2.962e-05	8.807e-05	0	0	0	0	0	6.317e-05	9.671e-05	1.647e-05	4.996e-05	4.917e-05	8.262e-05	1.482e-05	0.0001	2.274e-05	1.632e-05	5e-05	3.227e-05	0.0001	0	0	0	0	0	0	3.083e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.028	0.19712	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	.	.	.	0.2	0.60111	T	0.07	0.06138	N	0.014	0.00160	-1.0013	0.29545	T	0.051	0.21611	T	8	0.024826765	0.00697	T	0.012573	0.31260	T	0.134	0.36365	0.225	0.14960	0.0884992946249	0.08302	0.0729842930610539	0.07235	.	.	0.373326122761	0.21308	T	0.001267	0.00750	T	-0.339438	0.05427	T	-0.725355	0.04541	T	0.0196586221972802	0.00669	T	0.455954	0.13062	T	0.028249143	0.02134	0.044989936	0.05953	0.028249143	0.02134	0.044989936	0.05953	-3.736	0.19850	T	.	.	0.101	0.17573	B	.	.	-0.070566	0.03821	0.814	0.21696912851834305	0.00839	0.00818	0.03310	N	AEFDBI	0.045604	0.07476	N	-1.31182190903891	0.03539	0.1582599	-1.43395926006379	0.02918	0.1351726	0.999397833070131	0.39470	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.28	-5.91	0.02080	-1.118000	0.03391	-0.810000	0.07338	0.522000	0.23927	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.2952:0.1553:0.2017:0.3479	0.191	0.00125	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	0.02381	646.98	33	chr8	144116115	.	C	T	646.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.346e+00;DP=665;ExcessHet=0.0000;FS=1.179;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=-5.760e-01;SOR=0.513	GT:AD:DP:GQ:PL	0/1:24,27:51:99:661,0,708	20	0	1	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	10566.34	45	chr9	117371	.	C	G,*	10566.34	.	AC=21,5;AF=0.500,0.119;AN=42;BaseQRankSum=1.69;DP=683;ExcessHet=1.5101;FS=0.547;InbreedingCoeff=-0.0096;MLEAC=21,5;MLEAF=0.500,0.119;MQ=45.38;MQRankSum=-4.449e+00;QD=18.70;ReadPosRankSum=-5.950e-01;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,17,0:17:51:.:.:690,51,0,690,51,690	3	5	9	0
chr9	738349	738349	C	T	exonic	KANK1	.	nonsynonymous SNV	KANK1:NM_001354336:exon6:c.C2630T:p.P877L	Cerebral palsy, spastic quadriplegic, 2	.	0	1519	3	0	0	3	0.000986518	.	.	3052655	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.907	P	0.637	P	0.000	D	1.000	D	2.66	M	1.0	T	-0.558	T	0.231	T	0.644	4.102	21.1	5.36	2.675	7.352	19.454	0.357	0.0410125063735	.	.	3.348e-05	0	0	0	0	6.056e-05	0	0	2.59e-05	4	154602	rs201979002	4.378e-05	4.378e-05	3.539e-05	5.225e-05	0.0002	3.509e-05	3.193e-05	1.663e-05	1.425e-05	0	0	0.0011	0	0	0.0002	2.428e-05	9.934e-05	0	2.628e-05	2.627e-05	2.57e-05	2.69e-05	6.542e-05	8.14e-06	5.14e-06	.	.	0	0	6.542e-05	0.0009	0	0	0	0	0	0	0.001	0.78490	D	0.007	0.70582	D	0.907	0.50062	P	0.576	0.50064	P	0.000106	0.50451	D	0.000000	1	0.81001	D	3.19	0.88972	M	0.95	0.43279	T	-7.81	0.95950	D	0.788	0.78451	-0.5578	0.66488	T	0.231	0.59670	T	10	0.6260225	0.68246	D	0.041013	0.59697	D	0.357	0.67782	0.553	0.66995	0.441221003447	0.43743	0.670215287814758	0.66959	.	.	0.523870110512	0.42172	T	0.231843	0.59826	T	0.0233346	0.54831	T	-0.140612	0.60066	T	0.986025869846344	0.76852	D	0.984901	0.94786	D	0.679837	0.76960	0.5734578	0.75294	0.679837	0.76962	0.5734578	0.75295	-10.657	0.77744	D	0.9147399116881728	0.96152	0.444	0.74786	A	.;.;.;.;.	.;.;.;.;.	4.763906	0.77051	26.6	0.99520692964059931	0.69222	0.96847	0.71262	D	AEFDGBCIJ	0.874567	0.79751	D	0.508329416089747	0.67579	5.100756	0.474412120732255	0.66299	4.934061	1.0	0.98316	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.433000	0.79540	7.670000	0.64725	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:1.0:0.0:0.0	19.454	0.94871	783	0.47268	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1682.98	35	chr9	738349	.	C	T	1682.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=835;ExcessHet=0.0000;FS=2.292;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=0.827;SOR=0.494	GT:AD:DP:GQ:PL	0/1:67,63:130:99:1697,0,1666	20	0	1	0
chr9	18775809	18775809	G	A	exonic	ADAMTSL1	.	nonsynonymous SNV	ADAMTSL1:NM_001040272:exon18:c.G2464A:p.G822S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.999	D	0.889	P	1.000	U	1.000	D	2.525	M	-0.1	T	-0.422	T	0.455	T	0.522	3.203	16.73	5.81	2.736	6.547	15.187	0.355	0.0464684171395	.	.	7.733e-05	0.0001	0	0	0	8.655e-05	0	0.0001	5.17e-05	8	154602	rs751667336	1.919e-05	2.121e-05	1.227e-05	2.619e-05	0.0007	1.331e-05	1.146e-05	0.0002	0.0001	0	0	0	0	0	0.0007	1.531e-05	3.318e-05	5.853e-05	2.629e-05	2.627e-05	1.285e-05	4.038e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.414e-05	0	0	0	0	0	0	4.41e-05	0	0	0.003	0.68238	D	0.006	0.70582	D	0.999	0.77913	D	0.889	0.63100	P	1.000000	0.07966	U	1.011930	0.975676	0.39209	D	2.09	0.57893	M	-0.1	0.64264	T	-3.37	0.66665	D	0.653	0.66358	-0.4223	0.71316	T	0.455	0.78761	T	10	0.7771848	0.77555	D	0.046468	0.62471	D	0.355	0.67600	.	.	0.700873026449	0.69828	0.4656688937091794	0.46485	0.382327850379	0.39563	0.562796354294	0.47662	T	0.190909	0.54558	T	-0.108436	0.35027	T	-0.188032	0.55774	T	0.378480264926413	0.28124	T	0.851815	0.53646	D	0.22807057	0.45520	0.3251376	0.58432	0.22807057	0.45520	0.3251376	0.58431	-8.734	0.65968	D	.	.	0.098	0.16054	B	.	.	4.388097	0.67691	25.1	0.9982650930174628	0.90852	0.96878	0.71431	D	AEFDBI	0.742342	0.68599	D	0.63912173166586	0.75668	6.346592	0.563382815474836	0.72332	5.793448	0.9998899615436	0.44867	0.706298	0.61202	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.81	5.81	0.92413	6.667000	0.74293	11.920000	0.99804	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.009000	0.08673	0.0689:0.0:0.9311:0.0	15.187	0.72701	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	3233.98	36	chr9	18775809	.	G	A	3233.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=928;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=0.301;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,125:238:99:0|1:18775809_G_A:3248,0,4320:18775809	20	0	1	0
chr9	20758092	20758092	A	G	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375570:exon5:c.A290G:p.N97S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.003	B	0.02	B	0.011	N	0.614	D	0.55	N	2.0	T	-1.038	T	0.026	T	0.046	0.661	7.543	-0.076	-0.250	0.114	5.413	0.027	0.00477177773327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.08091	T	0.288	0.21144	T	.	.	.	.	.	.	0.011360	0.29565	N	0.399599	0.614444	0.32650	D	.	.	.	2.0	0.21473	T	-0.31	0.12099	N	0.202	0.22357	-1.0378	0.17985	T	0.026	0.10954	T	10	0.047581285	0.04095	T	0.004772	0.11910	T	0.027	0.05988	0.228	0.15406	0.112648838833	0.10856	0.11129214360005082	0.11058	0.00635658170257	0.00556	0.377763181925	0.21939	T	.	.	.	-0.336024	0.05668	T	-0.720452	0.04774	T	0.0794006139039993	0.09909	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05890	B	.;.	.;.	1.301991	0.17042	12.92	0.82204280209079794	0.14071	0.10374	0.15898	N	AEFBI	0.056947	0.10569	N	-0.780053685926043	0.13830	0.6842397	-0.697008185635478	0.17035	0.9039821	0.521890494590934	0.21103	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.37	-0.0758	0.13059	0.046000	0.13919	0.337000	0.17343	0.756000	0.94297	0.009000	0.18154	0.004000	0.18990	0.968000	0.53726	0.5734:0.277:0.1497:0.0	5.413	0.15659	629	0.65079	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	232.68	109	chr9	20758092	.	A	G	232.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.046e+00;DP=1329;ExcessHet=0.3300;FS=119.092;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.59;ReadPosRankSum=1.08;SOR=9.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:108,30:138:99:.:.:157,0,2393	18	0	3	0
chr9	20926307	20926307	C	A	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375568:exon25:c.C2863A:p.P955T	.	.	430	1083	9	0	0	9	0.00413793	.	.	3220247	FOCAD-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.993	D	0.617	P	0.000	D	1.000	D	1.87	L	3.23	T	-1.237	T	0.046	T	0.528	3.647	18.55	6.07	2.885	5.772	20.270	0.223	0.015067815469	0.0002	.	0.0004	0	8.672e-05	0	0	0.0001	0.0011	0.0021	0.0002846	44	154602	rs201363252	0.0002	0.0002	0.0002	0.0003	0.0019	0.0002	0.0002	0.0017	0.0016	0	0.0002	0.0008	0	0	0.0002	9.018e-05	0.0004	0.0019	0.0001	0.0001	0.0001	0.0001	0.0012	9.145e-05	7.701e-05	0.0005	0.0004	4.815e-05	0	0.0004	0.0003	0	0	0	7.35e-05	0.0005	0.0012	0.006	0.61437	D	0.044	0.49663	D	.	.	.	.	.	.	0.000025	0.55875	D	0.159460	0.999996	0.58761	D	.	.	.	3.23	0.06931	T	-1.85	0.43334	N	0.665	0.69300	-1.2373	0.00019	T	0.046	0.19720	T	10	0.098196894	0.17738	T	0.015068	0.35586	T	0.223	0.52023	.	.	0.503868428259	0.50024	0.45164779103105196	0.45082	0.0224936365175	0.02270	0.450447827578	0.32006	T	0.091017	0.38708	T	-0.408394	0.02037	T	-0.365264	0.37442	T	0.310423582792282	0.25431	T	0.807219	0.45710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.23500	B	.;.;.	.;.;.	3.735519	0.53465	23.4	0.99732380168754975	0.82833	0.99218	0.92973	D	AEFBI	0.601862	0.59395	D	0.597005863715178	0.72988	5.893064	0.606410282429013	0.75403	6.304595	0.999999997045029	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.07	6.07	0.98675	6.193000	0.71999	4.897000	0.45822	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:1.0:0.0:0.0	20.270	0.98467	453	0.79178	.;.;.	.	.	.	.	.	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	1041.98	33	chr9	20926307	.	C	A	1041.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.360e-01;DP=786;ExcessHet=0.0000;FS=4.003;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.20;ReadPosRankSum=0.343;SOR=0.360	GT:AD:DP:GQ:PL	0/1:50,43:93:99:1056,0,1312	20	0	1	0
chr9	27185501	27185501	A	G	exonic	TEK	.	nonsynonymous SNV	TEK:NM_001290078:exon7:c.A758G:p.H253R	Glaucoma 3, primary congenital, E, Autosomal dominant;Venous malformations, multiple cutaneous and mucosal, Autosomal dominant	.	1	1519	2	0	0	2	0.000657895	.	.	901824	Multiple_cutaneous_and_mucosal_venous_malformations	MONDO:MONDO:0010842,MedGen:C1838437,OMIM:600195,Orphanet:2451	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.35	T	0.0	B	0.0	B	0.916	N	1.000	N	-0.69	N	1.71	T	-0.984	T	0.020	T	0.201	0.973	8.971	0.56	0.466	-0.202	1.706	0.121	0.00409098222363	.	0.000599042	0.0003	0	0	0	0	0	0	0.0022	0.0002652	41	154602	rs573051752	0.0001	0.0001	8.85e-05	0.0002	0.0020	0.0001	0.0001	0.0017	0.0017	2.99e-05	0	0	0	0	0.0003	0	0.0003	0.0020	7.228e-05	7.219e-05	5.141e-05	9.41e-05	0.0021	3.971e-05	3.127e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0.0005	0.0021	0.347	0.12428	T	0.366	0.16668	T	0.0	0.02946	B	0.0	0.01387	B	0.915899	0.08521	N	0.951739	0.999999	0.08975	N	-0.69	0.01958	N	1.71	0.26737	T	-0.91	0.35399	N	0.231	0.31253	-0.9843	0.33998	T	0.020	0.08360	T	10	0.006674379	0.00151	T	0.004091	0.09775	T	0.121	0.33580	0.542	0.65446	0.243187853663	0.23924	0.5434800169758296	0.54274	0.254814007564	0.28058	0.326824069023	0.14454	T	0.01623	0.57873	T	-0.580451	0.00191	T	-0.613338	0.11715	T	0.00680313065734947	0.00077	T	0.622538	0.25820	T	0.104560606	0.24718	0.051507216	0.08304	0.104560606	0.24718	0.051507216	0.08303	-2.645	0.09600	T	0.07638105122949483	0.03484	0.063	0.03625	B	.;.;.;.;.	.;.;.;.;.	0.630651	0.09991	6.745	0.87591344049219177	0.17337	0.08445	0.14373	N	AEFGBHCIJ	0.127988	0.24558	N	-0.864840899746074	0.11687	0.565349	-0.713730133817583	0.16620	0.8800154	0.999904413089053	0.45458	0.730579	0.87903	0	0.59043	0.45803	0	0.659464	0.59346	0	0.648885	0.59868	0	.	.	5.88	0.56	0.16465	-0.017000	0.12529	1.499000	0.26943	-0.117000	0.14459	0.000000	0.06391	0.186000	0.23459	0.996000	0.76049	0.5531:0.1426:0.1664:0.1379	1.706	0.02708	781	0.47532	.;Immunoglobulin-like domain;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	1	0	0	0	0.02381	1636.98	33	chr9	27185501	.	A	G	1636.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.215e+00;DP=873;ExcessHet=0.0000;FS=1.207;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.41;ReadPosRankSum=-7.720e-01;SOR=0.573	GT:AD:DP:GQ:PL	0/1:94,80:174:99:1651,0,2311	20	0	1	0
chr9	39359552	39359552	G	A	exonic	SPATA31A1	.	nonsynonymous SNV	SPATA31A1:NM_001085452:exon4:c.G1787A:p.R596Q,	.	.	575	879	68	0	0	68	0.0372399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.941	P	0.689	P	0.059	N	1.000	N	2.02	M	2.89	T	-1.067	T	0.037	T	0.244	1.529	11.07	0.581	0.225	-0.772	4.077	0.060	0.000599555131866	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1438348415	0.0070	0.0083	0.0052	0.0087	0.0585	0.0068	0.0068	0.0571	0.0565	0.0008	0.0028	0.0284	0.0295	0.0002	0.0241	0.0021	0.0090	0.0585	0.0047	0.0062	0.0036	0.0059	0.0638	0.0044	0.0043	0.0577	0.0554	0.0005	0	0.0034	0.0350	0.0135	0.0004	0.0069	0.0021	0.0067	0.0638	.	.	.	0.21	0.26714	T	.	.	.	.	.	.	0.058787	0.22374	N	0.321964	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.156	0.16168	-0.9832	0.34258	T	0.016	0.06425	T	10	0.004602343	0.00096	T	0.001214	0.01583	T	0.010	0.01040	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.307185	0.07998	T	-0.679026	0.07043	T	0.10759462416172	0.13172	T	0.492351	0.15167	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729478	0.10985	7.648	0.99726200316220281	0.82406	0.00671	0.02892	N	AEFI	0.035374	0.04543	N	-1.07284279045767	0.07147	0.3311479	-1.16747451909524	0.06460	0.3110174	1.35875070236354E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.95	1.03	0.19161	-0.149000	0.10189	-15.955000	0.00333	-0.211000	0.08354	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.1952:0.0:0.8048:0.0	4.654	0.11995	988	0.01987	SPATA31/FAM205	.	.	.	.	.	Uncertain significance	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	2988.92	42	chr9	39359552	.	G	A	2988.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=8.61;DP=1809;ExcessHet=0.6776;FS=6.752;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=26.03;MQRankSum=-5.570e-01;QD=3.61;ReadPosRankSum=1.29;SOR=0.345	GT:AD:DP:GQ:PL	0/1:204,56:260:99:848,0,5004	17	0	4	0
chr9	39360569	39360569	C	T	exonic	SPATA31A1	.	nonsynonymous SNV	SPATA31A1:NM_001085452:exon4:c.C2804T:p.T935I,	.	.	431	1061	30	0	0	30	0.0139405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.001	B	0.012	B	0.145	N	1.000	N	0.695	N	3.65	T	-0.942	T	0.011	T	0.124	-0.226	2.906	0.41	-0.277	-0.208	4.427	0.013	0.000981093643997	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1404309393	0.0003	0.0039	0.0002	0.0004	0.0035	0.0003	0.0003	0.0032	0.0031	0.0002	6.733e-05	0.0007	0.0021	0	0.0012	4.415e-05	0.0003	0.0035	0.0024	0.0047	0.0021	0.0027	0.0270	0.0022	0.0021	0.0230	0.0214	0.0030	0	0.0016	0.0105	0.0029	0	0	0.0007	0.0030	0.0270	.	.	.	0.227	0.25362	T	.	.	.	.	.	.	0.145391	0.02919	N	1.773210	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.045	0.01740	-0.9505	0.40885	T	0.013	0.04985	T	10	0.006163448	0.00139	T	0.001346	0.01910	T	0.007	0.00512	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.259766	0.12927	T	-0.610912	0.11911	T	0.115202185223906	0.13954	T	0.347365	0.07649	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096505	0.04991	1.549	0.45848329066527499	0.03629	0.00606	0.02697	N	AEFI	0.025690	0.01804	N	-1.13272285352989	0.06069	0.2783974	-1.2422400143797	0.05247	0.2495462	1.09969535250592E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.95	-0.146	0.12775	-0.720000	0.05072	-20.000000	0.00162	0.512000	0.23348	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.5248:0.2889:0.1863	3.072	0.05857	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	0.09524	540.92	38	chr9	39360569	.	C	T	540.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.465;DP=1074;ExcessHet=0.6776;FS=4.328;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=31.18;MQRankSum=-3.041e+00;QD=1.32;ReadPosRankSum=-1.251e+00;SOR=0.365	GT:AD:DP:GQ:PL	0/1:78,22:100:99:306,0,2059	17	0	4	0
chr9	42186070	42186070	C	A	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.C368A:p.P123Q,	.	.	581	932	9	0	0	9	0.00480513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.944	P	0.548	P	0.855	N	1.000	N	1.59	L	3.77	T	-0.991	T	0.093	T	0.28	0.292	5.579	-0.749	-0.251	-0.300	3.859	0.061	0.0458461558121	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200437387	0.0049	0.0070	0.0035	0.0063	0.0474	0.0048	0.0048	0.0460	0.0455	0.0006	0.0023	0.0205	0.0338	0.0001	0.0156	0.0009	0.0057	0.0474	0.0026	0.0045	0.0023	0.0028	0.0385	0.0023	0.0022	0.0325	0.0303	0.0003	0	0.0020	0.0176	0.0110	0.0001	0.0043	0.0011	0.0022	0.0385	0.053	0.38863	T	0.021	0.58089	D	.	.	.	.	.	.	0.855382	0.07084	N	1.091620	1	0.08975	N	.	.	.	3.76	0.03892	T	-3.08	0.63323	D	0.191	0.20925	-1.0092	0.27167	T	0.032	0.13898	T	10	0.18082914	0.33286	T	0.001276	0.01733	T	.	.	0.188	0.09776	0.0611884634855	0.05136	0.10648868283993874	0.10578	.	.	0.378626286983	0.22062	T	0.156846	0.49920	T	-0.26873	0.11899	T	-0.623789	0.10890	T	0.831403613090515	0.48639	D	0.477152	0.14354	T	0.13750571	0.31836	0.24512002	0.49993	0.13750571	0.31836	0.24512002	0.49992	-4.282	0.27924	T	.	.	0.128	0.27252	B	.	.	1.046530	0.14277	10.85	0.97870535469713527	0.36526	0.00576	0.02603	N	AEFI	0.046559	0.07744	N	-0.416166356307326	0.24902	1.347937	-0.707086879867335	0.16784	0.8895221	1.09928555570762E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.86	-0.0695	0.13084	-0.885000	0.04269	-10.357000	0.00710	0.213000	0.18003	0.000000	0.06391	0.000000	0.08366	0.215000	0.22324	0.0:0.5906:0.0:0.4094	4.028	0.09180	994	0.00715	Domain of unknown function DUF4599	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	486.37	11	chr9	42186070	.	C	A	486.37	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.150e-01;DP=311;ExcessHet=0.0082;FS=37.353;InbreedingCoeff=0.3489;MLEAC=4;MLEAF=0.095;MQ=24.52;MQRankSum=-1.107e+00;QD=11.31;ReadPosRankSum=-5.660e-01;SOR=6.099	GT:AD:DP:GQ:PL	0/1:11,6:17:99:116,0,286	18	1	2	0
chr9	42188945	42188945	A	C	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.A3243C:p.Q1081H,	.	.	538	982	1	1	0	3	0.00152517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.013	B	0.005	B	0.168	N	1.000	N	-0.55	N	4.61	T	-1.000	T	0.021	T	0.184	-0.620	1.246	-2.01	-0.512	-0.238	2.915	0.002	0.0936970882714	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2605680	0.0011	0.0036	0.0008	0.0013	0.0111	0.0010	0.0010	0.0102	0.0098	0.0025	0.0005	0.0053	0.0111	3.903e-05	0.0033	0.0002	0.0012	0.0075	0.0019	0.0055	0.0016	0.0021	0.0205	0.0017	0.0016	0.0169	0.0155	0.0023	0	0.0010	0.0087	0.0033	0.0001	0	0.0005	0.0042	0.0205	0.442	0.09209	T	0.41	0.14544	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.9	0.10101	T	-2.0	0.46146	N	0.055	0.02658	.	.	.	.	.	.	.	0.10189211	0.18643	T	.	.	.	.	.	.	.	.	.	0.2119650982495831	0.21112	.	.	.	.	.	0.10144	0.40820	T	.	.	.	.	.	.	.	.	.	0.323768	0.06600	T	.	.	.	.	.	.	.	.	-4.881	0.35521	T	.	.	0.101	0.17700	B	.	.	-0.008512	0.04225	1.037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022000	0.13402	-2.566000	0.03601	-0.969000	0.01949	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	202.29	33	chr9	42188945	.	A	C	202.29	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.197;DP=821;ExcessHet=0.0000;FS=85.503;InbreedingCoeff=0.6074;MLEAC=2;MLEAF=0.053;MQ=46.53;MQRankSum=-5.113e+00;QD=1.34;ReadPosRankSum=0.797;SOR=6.961	GT:AD:DP:GQ:PL	0/1:128,15:143:7:7,0,3692	17	1	1	2
chr9	42189028	42189028	C	T	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.C3326T:p.S1109F,	.	.	511	994	16	1	0	18	0.00897308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.003	B	0.081	N	1.000	N	0.255	N	3.68	T	-0.994	T	0.007	T	0.263	-0.582	1.384	-2.45	-0.940	-2.468	0.324	0.036	0.0467376322815	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs773788763	0.0013	0.0040	0.0009	0.0017	0.0130	0.0013	0.0012	0.0123	0.0121	0.0024	0.0004	0.0049	0.0091	5.813e-05	0.0038	0.0002	0.0015	0.0130	0.0017	0.0052	0.0014	0.0021	0.0194	0.0015	0.0015	0.0159	0.0146	0.0021	0	0.0011	0.0064	0.0022	0	0	0.0005	0.0026	0.0194	0.7	0.04175	T	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.76	0.03892	T	-1.41	0.34795	N	0.082	0.05799	.	.	.	.	.	.	.	0.061792135	0.07802	T	.	.	.	.	.	.	.	.	.	0.056679223004083415	0.05608	.	.	.	.	.	0.004938	0.04364	T	.	.	.	.	.	.	.	.	.	0.423058	0.11286	T	.	.	.	.	.	.	.	.	-4.628	0.32521	T	.	.	0.133	0.28863	B	.	.	-1.072555	0.00674	0.019	.	.	.	.	.	.	0.019005	0.00622	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.688000	0.02027	-20.000000	0.00162	0.210000	0.17975	0.000000	0.06391	0.000000	0.08366	0.106000	0.18562	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1552.46	206	chr9	42189028	.	C	T	1552.46	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.70;DP=3354;ExcessHet=0.0082;FS=83.153;InbreedingCoeff=0.4024;MLEAC=4;MLEAF=0.095;MQ=44.31;MQRankSum=-6.473e+00;QD=5.07;ReadPosRankSum=-1.780e-01;SOR=9.030	GT:AD:DP:GQ:PL	0/1:130,29:159:99:385,0,3732	18	1	2	0
chr9	66987228	66987228	T	G	exonic	SPATA31A3	.	nonsynonymous SNV	SPATA31A3:NM_001083124:exon4:c.A3270C:p.K1090N,	.	.	662	791	60	9	0	78	0.046988	.	.	2334438	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201727394	0.0060	0.0096	0.0046	0.0075	0.0460	0.0059	0.0059	0.0446	0.0441	0.0036	0.0035	0.0218	0.0060	0.0005	0.0186	0.0024	0.0085	0.0460	0.0044	0.0098	0.0036	0.0052	0.0457	0.0041	0.0039	0.0398	0.0375	0.0042	0	0.0027	0.0222	0.0046	0.0001	0.0083	0.0016	0.0040	0.0457	.	.	.	0.681	0.06090	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.06059	.	.	.	.	.	.	.	0.004206866	0.00084	T	.	.	.	.	.	.	.	.	.	0.19206673839906713	0.19124	.	.	.	.	.	5.89E-4	0.00238	T	.	.	.	.	.	.	.	.	.	0.312769	0.06128	T	.	.	.	.	.	.	.	.	-4.107	0.25394	T	.	.	0.064	0.01762	B	.	.	0.388888	0.07604	4.266	.	.	.	.	.	.	0.011270	0.00096	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111000	0.15292	-5.189000	0.01814	-0.868000	0.02581	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3889.68	35	chr9	66987228	.	T	G	3889.68	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.26;DP=1122;ExcessHet=0.0015;FS=8.850;InbreedingCoeff=0.6042;MLEAC=7;MLEAF=0.184;MQ=47.07;MQRankSum=-7.229e+00;QD=7.75;ReadPosRankSum=1.41;SOR=1.270	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1418,138,0	15	2	2	2
chr9	66987438	66987438	C	G	exonic	SPATA31A3	.	nonsynonymous SNV	SPATA31A3:NM_001083124:exon4:c.G3060C:p.K1020N,	.	.	597	890	35	0	0	35	0.0192837	.	.	2334437	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201123059	0.0036	0.0077	0.0028	0.0044	0.0278	0.0035	0.0035	0.0268	0.0264	0.0004	0.0013	0.0138	0.0052	0.0002	0.0125	0.0015	0.0054	0.0278	0.0036	0.0045	0.0028	0.0046	0.0533	0.0033	0.0032	0.0464	0.0437	0.0004	0	0.0023	0.0264	0.0043	0.0005	0	0.0019	0.0067	0.0533	.	.	.	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.09490	.	.	.	.	.	.	.	0.08270806	0.13680	T	.	.	.	.	.	.	.	.	.	0.04967283740294485	0.04910	.	.	.	.	.	0.006475	0.05902	T	.	.	.	.	.	.	.	.	.	0.512749	0.16428	T	.	.	.	.	.	.	.	.	-4.305	0.28246	T	.	.	0.261	0.49538	B	.	.	0.186880	0.05734	2.180	.	.	.	.	.	.	0.031355	0.03337	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.603000	0.05770	-10.334000	0.00713	0.212000	0.17994	0.000000	0.06391	0.000000	0.08366	0.069000	0.16583	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05	255.8	25	chr9	66987438	.	C	G	255.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-1.327e+00;DP=480;ExcessHet=0.1072;FS=14.748;InbreedingCoeff=-0.0634;MLEAC=2;MLEAF=0.050;MQ=32.87;MQRankSum=-3.072e+00;QD=6.09;ReadPosRankSum=0.00;SOR=3.419	GT:AD:DP:GQ:PL	0/1:7,5:12:99:107,0,188	18	0	2	1
chr9	66989569	66989569	C	T	exonic	SPATA31A3	.	nonsynonymous SNV	SPATA31A3:NM_001083124:exon4:c.G929A:p.C310Y,	.	.	470	1035	17	0	0	17	0.00814566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.661	P	0.076	B	0.023	N	1.000	N	0	N	3.77	T	-0.964	T	0.007	T	0.258	-0.617	1.256	1.31	0.484	1.115	6.671	0.061	0.00193622393645	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879985392	0.0002	0.0012	0.0002	0.0002	0.0022	0.0002	0.0002	0.0018	0.0017	0.0001	4.847e-05	0.0014	0.0022	0	0.0014	4.704e-05	9.66e-05	0.0007	0.0016	0.0023	0.0014	0.0018	0.0188	0.0014	0.0013	0.0134	0.0116	0.0013	0	0.0012	0.0079	0.0034	0	0.0057	0.0010	0.0011	0.0188	.	.	.	0.282	0.21545	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.18784	.	.	.	.	.	.	.	0.0052527785	0.00115	T	.	.	.	.	.	.	.	.	.	0.050211009429770935	0.04964	.	.	.	.	.	8.91E-4	0.00456	T	.	.	.	.	.	.	.	.	.	0.392161	0.09760	T	.	.	.	.	.	.	.	.	-4.488	0.30731	T	.	.	0.114	0.22680	B	.	.	0.512350	0.08810	5.590	.	.	.	.	.	.	0.051649	0.09146	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.723000	0.25609	-1.321000	0.05722	0.215000	0.18024	0.001000	0.13787	0.000000	0.08366	0.110000	0.18741	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	322.94	44	chr9	66989569	.	C	T	322.94	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.29;DP=981;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1057;MLEAC=4;MLEAF=0.095;MQ=23.55;MQRankSum=-3.645e+00;QD=1.24;ReadPosRankSum=2.22;SOR=0.035	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,14:75:99:.:.:163,0,1522	17	0	4	0
chr9	74948151	74948151	G	A	exonic	C9orf40	.	nonsynonymous SNV	C9orf40:NM_017998:exon2:c.C482T:p.P161L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	1.955	M	.	.	-0.228	T	0.408	T	0.868	4.224	22.0	5.87	2.781	5.111	15.708	0.334	0.00803406325172	.	.	0.0001	0	0	0	0	0	0	0.0010	0.00011	17	154602	rs764625310	6.571e-05	6.635e-05	2.861e-05	0.0001	0.0010	5.498e-05	5.11e-05	0.0009	0.0008	2.989e-05	0	0	0	0	0	0	8.283e-05	0.0010	7.235e-05	7.226e-05	1.285e-05	0.0001	0.0021	3.975e-05	3.13e-05	0.0011	0.0009	2.416e-05	0	0	0	0	0	0	0	0	0.0021	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000236	0.47286	D	0.000000	0.999946	0.51968	D	2.19	0.61577	M	.	.	.	-8.23	0.96869	D	0.821	0.81658	-0.2284	0.76929	T	0.408	0.75755	T	9	0.32650846	0.49947	T	0.008034	0.21290	T	0.334	0.65620	0.462	0.53079	0.413241256734	0.40943	0.26438188312451444	0.26351	1.98220839654	0.93655	.	.	.	0.117964	0.43844	T	0.0813834	0.62203	D	0.303592	0.88363	D	0.683491885662079	0.39947	D	0.717928	0.33070	T	0.7530308	0.81044	0.73169833	0.84145	0.7530308	0.81046	0.73169833	0.84146	-8.062	0.61492	D	.	.	0.711	0.73426	P	.	.	4.561812	0.71894	25.7	0.99872769408256701	0.94989	0.92284	0.55358	D	AEFBI	0.527684	0.54952	D	0.781600408412108	0.84942	8.430836	0.77674279326839	0.88133	9.469552	0.999999996836975	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.87	5.87	0.94266	5.629000	0.67473	9.689000	0.81268	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.0:0.0:1.0:0.0	15.708	0.77363	773	0.48803	Putative WW-binding domain and destruction box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	884.98	35	chr9	74948151	.	G	A	884.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.376;DP=752;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=0.956;SOR=0.618	GT:AD:DP:GQ:PL	0/1:34,37:71:99:899,0,798	20	0	1	0
chr9	81992775	81992775	G	T	exonic	SPATA31D1	.	nonsynonymous SNV	SPATA31D1:NM_001001670:exon4:c.G2305T:p.V769L,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.041	B	0.078	B	0.000	N	1.000	N	0.96	L	3.52	T	-0.962	T	0.015	T	0.073	0.310	5.680	-4.03	-0.930	-0.467	8.861	0.026	0.000994122723668	.	.	1.658e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs761672079	6.842e-06	6.84e-06	4.085e-06	9.628e-06	5.797e-05	3.46e-06	2.52e-06	2.194e-05	1.43e-05	0	0	0	0	0	0	3.598e-06	1.657e-05	5.797e-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	0.854	0.02712	T	0.166	0.30828	T	0.041	0.21357	B	0.078	0.28627	B	0.000041	0.00387	N	4.293710	1	0.08975	N	1.35	0.33515	L	3.52	0.04905	T	-0.58	0.17417	N	0.065	0.03726	-0.9618	0.38839	T	0.015	0.06186	T	10	0.03718999	0.02059	T	9.94E-4	0.01050	T	0.026	0.05648	0.332	0.31843	0.104622674875	0.10061	0.07043592182051533	0.06980	.	.	0.491052150726	0.37584	T	7.3E-4	0.00340	T	-0.53246	0.00372	T	-0.799964	0.01903	T	0.0428689982376659	0.04214	T	0.558744	0.19484	T	0.03545281	0.04175	0.04014178	0.04269	0.03545281	0.04174	0.04014178	0.04269	-3.2	0.12480	T	.	.	0.206	0.43269	B	.	.	-0.526242	0.01784	0.137	0.65758435521982861	0.07863	0.01043	0.03895	N	AEFI	0.032337	0.03632	N	-1.41711620723753	0.02488	0.1099449	-1.53191224213978	0.02103	0.09621966	1.47569472688157E-4	0.05573	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.96	-4.03	0.03752	-1.810000	0.01824	-5.493000	0.01698	0.462000	0.21616	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.7538:0.0:0.2462:0.0	8.861	0.34412	923	0.18507	SPATA31/FAM205	.	.	.	.	.	Uncertain significance	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	1887.98	37	chr9	81992775	.	G	T	1887.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.152;DP=1150;ExcessHet=0.0000;FS=2.672;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.54;MQRankSum=0.461;QD=10.85;ReadPosRankSum=0.096;SOR=0.565	GT:AD:DP:GQ:PL	0/1:101,73:174:99:1902,0,2839	20	0	1	0
chr9	86018822	86018822	G	C	splicing	NAA35	NM_001321881:exon21:c.2037+1G>C;NM_024635:exon21:c.2037+1G>C;NM_001321882:exon21:c.2037+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.765	19.11	5.5	2.594	9.672	19.387	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353356	0.86736	D	0.269795	0.86563	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192679	0.94764	34	0.9954556175864131	0.70773	0.99856	0.99854	D	AEFBI	.	.	.	1.15891206100683	0.99082	20.59108	0.998694741300778	0.98602	18.76144	0.999999999999889	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.137589	0.03823	0	0.109871	0.03346	0	0.987846	0.96420	5.5	5.5	0.81386	9.434000	0.96726	11.731000	0.94998	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.387	0.94553	917	0.20147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	772.26	67	chr9	86018822	.	G	C	772.26	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-2.944e+00;DP=1493;ExcessHet=2.5830;FS=140.242;InbreedingCoeff=-0.2308;MLEAC=6;MLEAF=0.158;MQ=60.00;MQRankSum=0.00;QD=1.51;ReadPosRankSum=1.32;SOR=10.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,16:84:99:0|1:86018822_G_C:109,0,1967:86018822	12	0	7	2
chr9	87681425	87681425	A	G	exonic	DAPK1	.	nonsynonymous SNV	DAPK1:NM_001288729:exon20:c.A2023G:p.I675V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.981	D	0.976	D	0.003	N	1.000	D	1.39	L	-0.18	T	-0.546	T	0.338	T	0.087	2.289	13.61	2.84	0.449	4.389	9.181	0.093	0.00936207457345	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs994479071	4.114e-06	4.788e-06	0	8.265e-06	0.0002	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.508e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.32929	T	0.137	0.34359	T	0.0	0.02946	B	0.001	0.04355	B	0.003454	0.34930	N	0.117168	0.999878	0.50225	D	1.875	0.49914	L	-0.24	0.66834	T	-0.34	0.13226	N	0.15	0.19995	-0.5462	0.66930	T	0.338	0.70453	T	10	0.17359844	0.32196	T	0.009362	0.24553	T	0.093	0.26882	0.378	0.39319	0.679853016295	0.67712	0.26808414311376805	0.26721	0.371218183123	0.38624	0.595810294151	0.52313	T	0.043713	0.26588	T	-0.150821	0.28183	T	-0.454421	0.27208	T	0.217751085758209	0.21351	T	0.812719	0.47377	T	0.021990517	0.00834	0.040169973	0.04279	0.021990517	0.00833	0.040169973	0.04279	-7.074	0.54573	T	.	.	0.108	0.32827	B	.;.;.;.;.;.	.;.;.;.;.;.	2.565165	0.33231	19.28	0.96594393498164455	0.30383	0.93855	0.59386	D	AEFDBI	0.498907	0.53282	N	-0.192519468218007	0.33446	1.897541	-0.105326389196979	0.35175	2.03191	0.997373910952413	0.35551	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.17	2.84	0.32241	4.103000	0.57517	1.544000	0.27247	-0.054000	0.16847	1.000000	0.71638	0.999000	0.35428	0.985000	0.61073	0.8506:0.0:0.1494:0.0	9.181	0.36302	865	0.32612	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	1719.98	39	chr9	87681425	.	A	G	1719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.526e+00;DP=903;ExcessHet=0.0000;FS=0.574;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=-8.800e-01;SOR=0.610	GT:AD:DP:GQ:PL	0/1:92,80:172:99:1734,0,2284	20	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.935	H	-3.73	D	1.004	D	0.941	D	0.414	2.778	15.25	2.15	0.116	2.094	10.600	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	16167.74	344	chr9	92080918	.	G	C	16167.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.447e+00;DP=7903;ExcessHet=54.0936;FS=420.103;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.24;ReadPosRankSum=1.19;SOR=16.175	GT:AD:DP:GQ:PL	0/1:226,160:404:99:833,0,3658	0	0	21	0
chr9	92474746	92474748	TCA	-	exonic	ASPN	.	nonframeshift deletion	ASPN:NM_001193335:exon2:c.150_152del:p.D50del	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	0/1:36,39,0,0,0,0:75:99:1390,0,1255,1498,1374,2872,1498,1374,2872,2872,1498,1374,2872,2872,2872,1498,1374,2872,2872,2872,2872	1	2	3	0
chr9	92474748	92474748	-	TCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGA:p.D50_E51insD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	0/1:36,39,0,0,0,0:75:99:1390,0,1255,1498,1374,2872,1498,1374,2872,2872,1498,1374,2872,2872,2872,1498,1374,2872,2872,2872,2872	1	2	3	0
chr9	92474748	92474748	-	TCATCATCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGATGATGA:p.D50_E51insDDD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	0/1:36,39,0,0,0,0:75:99:1390,0,1255,1498,1374,2872,1498,1374,2872,2872,1498,1374,2872,2872,2872,1498,1374,2872,2872,2872,2872	1	2	3	0
chr9	92474748	92474748	-	TCATCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGATGA:p.D50_E51insDD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	0/1:36,39,0,0,0,0:75:99:1390,0,1255,1498,1374,2872,1498,1374,2872,2872,1498,1374,2872,2872,2872,1498,1374,2872,2872,2872,2872	1	2	3	0
chr9	96818086	96818086	T	C	exonic	ZNF782	.	nonsynonymous SNV	ZNF782:NM_001346993:exon4:c.A1865G:p.Y622C	.	.	385	1132	5	0	0	5	0.00220361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.892	P	.	.	1.000	N	2.93	M	1.8	T	-1.006	T	0.146	T	0.429	1.509	10.99	1.62	0.466	0.172	5.601	0.067	0.00228816645302	.	0.00119808	0.0012	0	0	0	0	2.998e-05	0	0.0088	0.0009896	153	154602	rs539700759	0.0005	0.0005	0.0003	0.0007	0.0080	0.0005	0.0005	0.0075	0.0073	0	0	0	0	0	0.0003	7.194e-06	0.0006	0.0080	0.0003	0.0003	0.0001	0.0004	0.0081	0.0002	0.0002	0.0061	0.0054	0	0	0	0	0	0	0	1.471e-05	0	0.0081	0.189	0.21224	T	0.153	0.32144	T	0.999	0.77913	D	0.892	0.63276	P	.	.	.	.	1	0.08975	N	2.775	0.80997	M	1.8	0.25344	T	-6.79	0.92863	D	0.274	0.32701	-1.0061	0.28126	T	0.146	0.47021	T	9	0.005348742	0.00117	T	0.002288	0.04397	T	0.096	0.27654	0.582	0.70861	0.423360453849	0.41956	0.0915135642072967	0.09084	0.568009054264	0.53033	0.578802108765	0.49917	T	0.099766	0.40489	T	-0.477436	0.00766	T	-0.45303	0.27363	T	0.226772152539538	0.21797	T	0.822018	0.48145	T	0.19609062	0.41423	0.298122	0.55845	0.19609062	0.41422	0.298122	0.55845	-9.286	0.69519	D	.	.	0.889	0.82009	P	.;.	.;.	2.385464	0.30625	18.49	0.98856426696166388	0.47390	0.00018	0.00208	N	AEGBHCI	0.110557	0.21919	N	-0.0952382059839661	0.37601	2.189929	-0.311467002466308	0.27728	1.540661	0.00212953443105451	0.09174	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	2.78	1.62	0.22817	-0.375000	0.07532	-0.327000	0.09919	-0.130000	0.13190	0.000000	0.06391	0.002000	0.18203	0.965000	0.52897	0.4526:0.0:0.0:0.5474	5.601	0.16633	757	0.50970	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2544.98	91	chr9	96818086	.	T	C	2544.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.87;DP=991;ExcessHet=0.0000;FS=4.859;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=1.20;SOR=0.821	GT:AD:DP:GQ:PL	0/1:112,93:205:99:2559,0,3072	20	0	1	0
chr9	96819529	96819529	C	A	exonic	ZNF782	.	nonsynonymous SNV	ZNF782:NM_001346993:exon4:c.G422T:p.R141L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.0	B	0.0	B	.	.	1.000	P	-0.895	N	5.98	T	-0.932	T	0.004	T	0.327	-0.408	2.091	-4.0	-1.320	-0.145	3.225	0.041	0.000896652167863	.	.	8.255e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs4645656	6.848e-07	6.84e-07	0	1.377e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.658	0.08943	T	0.912	0.04825	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	-1.445	0.00556	N	3.69	0.04114	T	2.37	0.00310	N	0.063	0.04668	-0.9319	0.43859	T	0.004	0.01330	T	8	0.033929974	0.01583	T	8.97E-4	0.00844	T	0.041	0.10877	0.524	0.62818	0.254244900254	0.25046	0.04433362831807223	0.04377	0.125945359065	0.14199	0.278184771538	0.07240	T	0.001582	0.01021	T	-0.264268	0.12404	T	-0.617379	0.11391	T	0.019273647166571	0.00633	T	0.0590941	0.00855	T	0.040805943	0.05892	0.041228253	0.04637	0.040805943	0.05892	0.041228253	0.04637	-2.08	0.03499	T	.	.	0.106	0.21578	B	.;.;.	.;.;.	-0.054531	0.03919	0.867	0.15256631057433792	0.00366	0.00002	0.00064	N	AEFGBHCI	0.015981	0.00332	N	-1.81364783500322	0.00512	0.02206136	-1.82350469604324	0.00687	0.03056922	0.0318755322217933	0.14025	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	3.38	-4.0	0.03787	0.300000	0.18911	-0.256000	0.10466	-0.681000	0.04224	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.1753:0.4618:0.0921:0.2708	3.225	0.06331	757	0.50970	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	8824.62	126	chr9	96819529	.	C	A,T	8824.62	.	AC=1,4;AF=0.024,0.095;AN=42;BaseQRankSum=2.56;DP=1311;ExcessHet=1.1607;FS=1.745;InbreedingCoeff=-0.1351;MLEAC=1,4;MLEAF=0.024,0.095;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=-5.840e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/2:76,0,71:147:99:1984,2212,4352,0,2140,1927	16	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	2/2:0,0,13:13:40:.:.:581,581,581,40,40,0	2	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	0/1:127,45:172:81:.:.:81,0,2197	7	0	9	5
chr9	117714331	117714331	G	A	exonic	TLR4	.	nonsynonymous SNV	TLR4:NM_138557:exon2:c.G1603A:p.V535I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.962	D	0.912	D	0.000	D	0.682	D	0.565	N	2.92	T	-1.013	T	0.046	T	0.405	3.984	20.4	5.13	1.544	5.277	16.743	0.197	0.00849720499261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.912e-07	6.84e-07	1.369e-06	0	9.09e-07	0	0	.	.	0	0	0	0	0	0	9.09e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.61437	D	0.104	0.38891	T	0.962	0.55554	D	0.912	0.64797	D	0.000258	0.46924	D	0.093034	0.682196	0.33244	D	0.82	0.20857	L	2.92	0.09915	T	-0.41	0.14000	N	0.296	0.33469	-1.0133	0.25880	T	0.046	0.19599	T	10	0.41621298	0.56559	T	0.008497	0.22482	T	0.197	0.47942	0.709	0.84509	0.727753208188	0.72534	0.3091798018695171	0.30830	0.428412430715	0.43159	0.39957228303	0.25009	T	0.082176	0.36767	T	-0.12981	0.31527	T	-0.424239	0.30591	T	0.912847757339478	0.56890	D	0.963204	0.86318	D	0.24629544	0.47597	0.15992631	0.37274	0.24629544	0.47597	0.15992631	0.37273	-3.17	0.12117	T	.	.	0.216	0.44514	B	.;.;.	.;.;.	4.162275	0.62513	24.5	0.99850321522070484	0.93013	0.86674	0.46005	D	AEFDBHCI	0.518997	0.54446	D	0.419329376609052	0.62484	4.465227	0.446967250483448	0.64523	4.709328	0.999999946917396	0.74766	0.645754	0.44609	0	0.615948	0.52940	0	0.615948	0.41167	0	0.723	0.93126	0	.	.	6.03	5.13	0.69729	5.723000	0.68141	11.819000	0.97178	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.0:0.8697:0.1303	16.743	0.85324	905	0.23532	.;Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain;Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) 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	1242.98	34	chr9	117714331	.	G	A	1242.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.590e-01;DP=792;ExcessHet=0.0000;FS=4.692;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.80;ReadPosRankSum=0.136;SOR=1.264	GT:AD:DP:GQ:PL	0/1:34,40:74:99:1257,0,981	20	0	1	0
chr9	120612449	120612449	T	G	exonic	MEGF9	.	nonsynonymous SNV	MEGF9:NM_001080497:exon4:c.A1034C:p.E345A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.105	B	0.065	B	0.717	N	1.000	N	0.895	L	0.11	T	-1.005	T	0.108	T	0.141	1.214	9.926	-0.671	-0.052	-0.449	6.551	0.057	0.0121094395506	0.0007	0.000199681	0.0002	0.0028	8.706e-05	0	0	0	0	0	0.0001876	29	154602	rs62639984	7.322e-05	7.388e-05	8.714e-05	5.915e-05	0.0025	6.183e-05	5.743e-05	0.0020	0.0019	0.0025	0.0002	0	0	0	0.0002	7.196e-06	0.0001	0	0.0009	0.0009	0.0009	0.0009	0.0031	0.0008	0.0007	0.0026	0.0025	0.0031	0	0.0005	0	0	0	0	0	0.0005	0	0.282	0.15406	T	0.29	0.21011	T	.	.	.	.	.	.	0.717153	0.09965	N	0.865527	1	0.08975	N	1.395	0.35261	L	0.11	0.61208	T	-1.9	0.44284	N	0.159	0.16586	-1.0054	0.28337	T	0.108	0.39295	T	10	0.007642597	0.00174	T	0.012109	0.30386	T	0.057	0.16321	.	.	0.20808081866	0.20439	0.5432016079720849	0.54246	.	.	0.281569540501	0.07712	T	0.042139	0.26088	T	-0.501823	0.00559	T	-0.497914	0.22565	T	0.0125236337649379	0.00207	T	0.621038	0.23867	T	0.12841254	0.30022	0.042668834	0.05134	0.12841254	0.30021	0.042668834	0.05134	-2.945	0.09600	T	.	.	0.082	0.08802	B	.	.	1.004485	0.13833	10.38	0.92176419873347704	0.21541	0.13696	0.18001	N	ALL	0.047976	0.08137	N	-0.858349639867324	0.11844	0.5739128	-0.837011115859485	0.13599	0.7063909	0.999995624186689	0.74766	0.743674	0.98306	0	0.69481	0.67340	0	0.685742	0.62368	0	0.584449	0.35598	0	.	.	5.92	-0.671	0.10809	-0.299000	0.08291	0.044000	0.13909	0.665000	0.62972	0.000000	0.06391	0.001000	0.17328	0.996000	0.76049	0.0:0.3789:0.1332:0.4879	6.551	0.21632	879	0.29470	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1121.98	33	chr9	120612449	.	T	G	1121.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.920e-01;DP=748;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.10;ReadPosRankSum=1.30;SOR=0.667	GT:AD:DP:GQ:PL	0/1:18,44:62:99:1136,0,392	20	0	1	0
chr9	121000045	121000045	C	A	exonic	C5	.	nonsynonymous SNV	C5:NM_001317164:exon21:c.G2569T:p.A857S,	C5 deficiency	.	505	1015	2	0	0	2	0.000984252	.	.	2840709	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0	0	0	0	.	0	0	0	0.000207	32	154602	rs139479771	0.0046	0.0020	0.0050	0.0042	0.0066	0.0042	0.0040	0.0060	0.0058	0.0021	0.0058	0.0015	0	0.0022	0.0021	0.0066	0.0047	0.0001	0.0049	0.0047	0.0052	0.0046	0.0079	0.0046	0.0045	0.0073	0.0071	0.0016	0.0011	0.0050	0.0047	0	0.0012	0.0035	0.0079	0.0070	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	200.03	19	chr9	121000045	.	C	A	200.03	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.995;DP=310;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0275;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.39;ReadPosRankSum=-4.130e-01;SOR=0.446	GT:AD:DP:GQ:PL	0/1:6,7:13:99:214,0,176	20	0	1	0
chr9	122477395	122477395	A	G	exonic	OR1J1	.	nonsynonymous SNV	OR1J1:NM_001004451:exon1:c.T532C:p.F178L,	.	.	.	.	.	.	.	.	.	.	.	2471355	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.984	D	0.000	D	0.880	D	2.75	M	8.52	T	-0.514	T	0.002	T	0.51	3.695	18.77	4.57	2.068	7.114	13.415	0.263	0.00607232827244	7.7e-05	.	3.311e-05	0	0	0	0	1.505e-05	0	0.0002	2.59e-05	4	154602	rs371484813	1.642e-05	1.642e-05	8.168e-06	2.475e-05	0.0003	1.111e-05	9.33e-06	7.999e-05	6.237e-05	0	0.0001	0	0	0	0.0003	3.597e-06	1.656e-05	0.0001	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0	0	0.0010	0.0002	0.006	0.61437	D	0.001	0.83351	D	1.0	0.90584	D	0.984	0.76113	D	0.000009	0.62929	D	0.000000	0.880392	0.35739	D	2.355	0.67662	M	8.52	0.00202	T	-5.87	0.88630	D	0.366	0.40765	-0.5143	0.68128	T	0.002	0.00646	T	10	0.35234338	0.52065	T	0.006072	0.15875	T	0.263	0.57612	0.452	0.51448	0.667047117793	0.66424	0.1019801700959618	0.10129	0.172625303199	0.19432	0.321306318045	0.13619	T	0.01381	0.11878	T	-0.280588	0.10605	T	-0.381142	0.35588	T	0.946762800216675	0.62539	D	0.80432	0.45191	T	0.6377216	0.74709	0.48824376	0.70386	0.6377216	0.74711	0.48824376	0.70387	-6.317	0.48856	T	.	.	0.706	0.73214	P	.	.	4.237325	0.64219	24.7	0.99888946249513388	0.96359	0.98562	0.84121	D	AEFGBHCI	0.824762	0.74460	D	0.674058503001575	0.77931	6.77109	0.573293578381378	0.73033	5.904466	0.999999995771083	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.57	4.57	0.55860	6.178000	0.71900	1.017000	0.23376	0.684000	0.82519	1.000000	0.71638	0.001000	0.17328	0.134000	0.19723	1.0:0.0:0.0:0.0	13.415	0.60414	950	0.11238	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	2182.98	43	chr9	122477395	.	A	G	2182.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.340e-01;DP=898;ExcessHet=0.0000;FS=0.635;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.17;ReadPosRankSum=-6.820e-01;SOR=0.761	GT:AD:DP:GQ:PL	0/1:60,75:135:99:2197,0,1673	20	0	1	0
chr9	122567960	122567960	T	C	exonic	OR1L8	.	nonsynonymous SNV	OR1L8:NM_001004454:exon1:c.A518G:p.N173S,	.	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.372	B	0.34	B	0.033	N	1.000	N	2.595	M	8.46	T	-1.048	T	0.001	T	0.015	2.525	14.40	3.35	0.879	0.769	7.333	0.101	.	0.0065	0.00539137	0.0019	0.0201	0.0010	0.0007	0	4.496e-05	0	6.057e-05	0.0017658	273	154602	rs112105797	0.0006	0.0006	0.0007	0.0005	0.0214	0.0006	0.0006	0.0201	0.0196	0.0214	0.0009	0	0.0004	0	0.0005	7.014e-05	0.0013	0.0001	0.0059	0.0059	0.0056	0.0062	0.0211	0.0056	0.0055	0.0200	0.0195	0.0211	0	0.0008	0	0.0002	0	0	4.412e-05	0.0024	0	0.046	0.40573	D	0.052	0.47581	T	0.372	0.34134	B	0.34	0.42389	B	0.033176	0.24932	N	0.283555	1	0.08975	N	2.155	0.60227	M	8.46	0.00221	T	-4.15	0.75297	D	0.119	0.10911	-1.0484	0.14846	T	0.001	0.00188	T	10	0.0044124722	0.00090	T	.	.	.	0.101	0.28911	.	.	0.32714864917	0.32323	0.05195506963144553	0.05137	0.165598894335	0.18678	0.195183485746	0.00330	T	0.013899	0.11931	T	-0.71038	0.00032	T	-0.775602	0.02589	T	0.0468127200199182	0.04931	T	0.742326	0.36163	T	0.19427337	0.41170	0.21432604	0.45978	0.19427337	0.41170	0.21432604	0.45977	-5.942	0.45791	T	.	.	0.088	0.11893	B	.;.	.;.	1.461554	0.18842	13.95	0.99384820318634615	0.62068	0.14067	0.18204	N	AEFGBI	0.086079	0.17452	N	-0.369018337549987	0.26579	1.451656	-0.390711679828631	0.25272	1.388843	0.163755734964202	0.17633	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.49	3.35	0.37468	0.570000	0.23357	-5.324000	0.01761	-0.727000	0.03751	0.000000	0.06391	0.000000	0.08366	0.126000	0.19410	0.0:0.1782:0.0:0.8218	7.333	0.25766	941	0.13089	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2423.11	96	chr9	122567960	.	T	C	2423.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.689;DP=1822;ExcessHet=0.1072;FS=0.511;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=0.577;SOR=0.650	GT:AD:DP:GQ:PL	0/1:69,46:115:99:1197,0,1928	19	0	2	0
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.58	P	0.16	B	0.012	N	1.000	D	1.87	L	0.85	T	-1.078	T	0.089	T	0.151	2.394	13.96	2.23	0.458	0.075	3.228	0.048	0.00511713534183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	4.926e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.133	0.34359	T	0.58	0.38813	P	0.16	0.34752	B	0.011693	0.29437	N	0.400143	0.937019	0.26902	N	.	.	.	0.85	0.47130	T	-2.13	0.48354	N	0.253	0.28616	-1.0776	0.07821	T	0.089	0.34271	T	10	0.15869087	0.29835	T	0.005117	0.13001	T	0.048	0.13305	0.117	0.02508	0.511220899679	0.50763	0.22389107574446282	0.22304	0.665481085244	0.59146	.	.	.	0.083009	0.36958	T	-0.233602	0.16174	T	-0.573329	0.15145	T	0.768105268478394	0.44326	D	0.642936	0.25461	T	0.07620602	0.17219	0.08653153	0.20054	0.07620602	0.17219	0.08653153	0.20054	-5.906	0.47647	T	.	.	0.170	0.37312	B	.;.	.;.	1.611943	0.20598	14.82	0.99153328533649743	0.53875	0.62448	0.31784	D	AEFDGBCI	0.199371	0.32618	N	-0.115357649790928	0.36724	2.126585	-0.0733379664216469	0.36497	2.124728	0.999992507834303	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	2.23	0.27189	0.091000	0.14885	0.384000	0.17813	0.649000	0.52879	0.993000	0.37899	0.958000	0.29226	0.883000	0.42306	0.3494:0.0:0.4698:0.1808	3.228	0.06340	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.425	2743.82	57	chr9	127707148	.	G	C,A	2743.82	.	AC=11,6;AF=0.275,0.150;AN=40;BaseQRankSum=-9.810e-01;DP=1576;ExcessHet=25.1139;FS=227.043;InbreedingCoeff=-0.7001;MLEAC=11,6;MLEAF=0.275,0.150;MQ=60.00;MQRankSum=0.00;QD=2.28;ReadPosRankSum=0.651;SOR=11.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:56,0,21:77:84:.:.:84,236,1241,0,1005,949	3	0	11	1
chr9	127747252	127747252	G	C	exonic	SH2D3C	.	nonsynonymous SNV	SH2D3C:NM_001142533:exon4:c.C685G:p.R229G	.	.	421	1070	29	2	0	33	0.0151864	.	.	2826406	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.814	P	0.000	D	1.000	D	1.78	L	2.69	T	-1.095	T	0.079	T	0.652	3.794	19.26	5.34	2.504	5.195	11.814	0.076	0.0175505965479	0.0016	0.00199681	0.0022	0.0006	0.0022	0	0	0.0032	0.0045	0.0014	0.0020957	324	154602	rs61761895	0.0017	0.0017	0.0017	0.0018	0.0202	0.0017	0.0016	0.0172	0.0161	0.0007	0.0020	0.0293	5.038e-05	1.888e-05	0.0202	0.0010	0.0037	0.0015	0.0018	0.0018	0.0020	0.0016	0.0037	0.0016	0.0016	0.0029	0.0026	0.0003	0	0.0037	0.0236	0	0	0.0034	0.0016	0.0024	0.0023	0.009	0.68238	D	0.147	0.40747	T	0.99	0.63424	D	0.796	0.58006	P	0.000048	0.53742	D	0.160927	0.99997	0.58761	D	1.995	0.54099	M	2.68	0.24841	T	-2.8	0.59226	D	0.632	0.69037	-1.0951	0.04738	T	0.079	0.31435	T	10	0.0068766177	0.00156	T	0.017551	0.39293	T	0.076	0.22200	.	.	0.783685163817	0.78168	0.27980155829170095	0.27893	1.37776733009	0.84718	0.411469936371	0.26660	T	0.181966	0.53382	T	-0.307484	0.07971	T	-0.22172	0.52572	T	0.0466912335600416	0.04909	T	0.925907	0.74506	D	0.21888709	0.44408	0.22958256	0.48035	0.21888709	0.44407	0.22958256	0.48034	-5.058	0.39884	T	.	.	0.112	0.32804	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.959316	0.58061	23.9	0.99729299887713885	0.82619	0.95476	0.64872	D	AEFDGBHCI	0.879190	0.80497	D	0.497461101975698	0.66941	5.015866	0.535832682399676	0.70418	5.502297	0.999999996624715	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.779548	0.98927	0	0.711	0.71501	0	.	.	5.34	5.34	0.75982	5.473000	0.66502	7.517000	0.59705	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:0.0:0.7211:0.2789	11.814	0.51475	294	0.88270	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	968.98	39	chr9	127747252	.	G	C	968.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.960e-01;DP=804;ExcessHet=0.0000;FS=6.346;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.50;ReadPosRankSum=-7.720e-01;SOR=0.566	GT:AD:DP:GQ:PL	0/1:57,45:102:99:983,0,1441	20	0	1	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	0/1:32,22,0:54:99:828,0,1276,924,1343,2267	15	0	5	0
chr9	128999742	128999742	G	T	exonic	NUP188	.	nonsynonymous SNV	NUP188:NM_015354:exon34:c.G3780T:p.E1260D,	.	.	425	1062	31	4	0	39	0.0180305	.	.	1687699	NUP188-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.11	T	0.007	B	0.004	B	0.000	D	1.000	D	1.355	L	1.3	T	-1.087	T	0.047	T	0.163	2.034	12.76	2.32	0.574	1.147	6.476	0.054	.	0.0037	0.00459265	0.0053	0.0010	0.0041	0	0.0002	0.0053	0.0077	0.0136	0.0051487	796	154602	rs147959429	0.0057	0.0057	0.0054	0.0060	0.0146	0.0056	0.0055	0.0139	0.0137	0.0011	0.0049	0.0052	7.557e-05	0.0006	0.0132	0.0055	0.0068	0.0146	0.0043	0.0043	0.0042	0.0045	0.0126	0.0041	0.0039	0.0101	0.0092	0.0010	0.0011	0.0104	0.0049	0.0002	0.0005	0.0238	0.0051	0.0099	0.0126	0.1	0.30515	T	0.13	0.34716	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.049497	0.999938	0.51612	D	1.21	0.30464	L	1.3	0.35590	T	-1.39	0.34397	N	0.219	0.24510	-1.0873	0.05995	T	0.047	0.20037	T	10	0.0067179203	0.00152	T	.	.	.	0.054	0.15330	0.288	0.24761	0.138757226776	0.13463	0.1281385805638429	0.12738	0.165499226601	0.18665	0.433647572994	0.29707	T	0.023	0.17867	T	-0.515755	0.00466	T	-0.501947	0.22145	T	0.0127255447813224	0.00215	T	0.80032	0.44603	T	0.09218572	0.21620	0.08854248	0.20650	0.09218572	0.21620	0.08854248	0.20650	-3.944	0.22963	T	.	.	0.073	0.04599	B	.	.	1.942941	0.24678	16.49	0.99142352313699977	0.53573	0.78145	0.38511	D	AEFDGBCI	0.280364	0.39420	N	-0.334370868506915	0.27851	1.531367	-0.221038961486426	0.30783	1.736232	0.999996208120048	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.28	2.32	0.27895	1.020000	0.29629	1.802000	0.28890	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.2262:0.0:0.6408:0.1329	6.476	0.21238	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1783.11	34	chr9	128999742	.	G	T	1783.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.129e+00;DP=941;ExcessHet=0.1072;FS=1.765;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.70;ReadPosRankSum=0.357;SOR=0.830	GT:AD:DP:GQ:PL	0/1:52,39:91:99:823,0,1417	19	0	2	0
chr9	129615508	129615508	G	C	exonic	C9orf50	.	nonsynonymous SNV	C9orf50:NM_199350:exon4:c.C856G:p.R286G,	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.971	D	0.004	N	1.000	N	1.1	L	1.67	T	-1.036	T	0.113	T	0.751	1.137	9.632	3.17	2.083	2.561	10.195	0.324	0.0838868007977	.	.	.	.	.	.	.	.	.	.	.	.	.	rs776911121	2.064e-06	2.736e-06	1.369e-06	2.767e-06	0.0002	5.5e-07	1.5e-07	3.9e-06	1.46e-06	0	0	0	0	0	0.0002	0	0	2.346e-05	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.03	0.45393	D	0.0	0.92824	D	1.0	0.90584	D	0.971	0.72444	D	0.004481	0.33710	N	0.000000	0.856153	0.81001	N	1.04	0.26193	L	1.67	0.27331	T	-5.79	0.88065	D	0.788	0.78451	-1.0359	0.18575	T	0.113	0.40422	T	10	0.750723	0.75617	D	0.083887	0.74211	D	0.324	0.64624	0.482	0.56302	0.245101548738	0.24120	0.2783072358000185	0.27743	0.214648875101	0.24003	.	.	.	0.099726	0.40481	T	0.0114461	0.53223	T	-0.221335	0.52608	T	0.966959178447723	0.67750	D	0.565643	0.19997	T	0.3273559	0.55253	0.4383808	0.67225	0.3273559	0.55253	0.4383808	0.67226	-10.14	0.74745	D	.	.	0.622	0.69763	P	.	.	3.014075	0.40320	21.1	0.9876374217123145	0.45862	0.69332	0.34146	D	AEFDGBCI	0.248606	0.36898	N	0.271328425258462	0.54701	3.635052	0.181869733094375	0.48854	3.09585	0.999999767083068	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.17	3.17	0.35510	2.344000	0.43666	7.070000	0.57437	0.600000	0.45842	1.000000	0.71638	1.000000	0.68203	0.313000	0.24807	0.0:0.0:1.0:0.0	10.195	0.42225	707	0.57054	Domain of unknown function DUF4685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	781.98	63	chr9	129615508	.	G	C	781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.590e-01;DP=1216;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.41;ReadPosRankSum=0.528;SOR=0.657	GT:AD:DP:GQ:PL	0/1:53,40:93:99:796,0,1197	20	0	1	0
chr9	131477809	131477809	A	C	exonic	PRRC2B	.	nonsynonymous SNV	PRRC2B:NM_001384823:exon16:c.A2390C:p.Y797S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	1.0	D	0.996	D	0.002	U	1.000	D	1.7	L	4.34	T	-1.012	T	0.023	T	0.691	1.542	11.11	3.83	0.854	3.128	10.077	0.168	0.0756518760706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.345	0.50809	T	0.999	0.77913	D	0.994	0.82059	D	0.001839	0.37892	U	0.000000	0.999991	0.58761	D	2.51	0.73131	M	4.27	0.02513	T	-3.84	0.77143	D	0.538	0.56748	-1.0121	0.26259	T	0.023	0.09923	T	10	0.4968025	0.61314	T	0.075652	0.72340	D	0.168	0.42943	0.398	0.42590	0.189391138174	0.18552	0.5554234286003399	0.55469	0.334470090131	0.35464	0.394221782684	0.24263	T	0.256347	0.62724	T	-0.0203787	0.48800	T	-0.267049	0.48118	T	0.565563093515402	0.35065	D	0.888211	0.61727	D	0.22264552	0.44868	0.2599565	0.51752	0.22264552	0.44868	0.2599565	0.51751	-0.649	0.00683	T	.	.	0.107	0.25364	B	.;.	.;.	2.287237	0.29252	18.06	0.94977512766355476	0.25913	0.76889	0.37748	D	AEFDGBHCI	0.134290	0.25425	N	-0.185495193858954	0.33738	1.917504	-0.330531401015791	0.27117	1.502536	0.999999733851306	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.98	3.83	0.43287	2.359000	0.43797	5.342000	0.48348	-0.054000	0.16847	0.028000	0.20300	1.000000	0.68203	0.110000	0.18741	0.9204:0.0:0.0796:0.0	10.077	0.41539	483	0.77230	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1071	199.72	40	chr9	131477809	.	A	C	199.72	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-2.421e+00;DP=1077;ExcessHet=0.3300;FS=86.704;InbreedingCoeff=-0.1996;MLEAC=4;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.22;ReadPosRankSum=1.87;SOR=7.070	GT:AD:DP:GQ:PL	0/1:43,15:58:79:79,0,1017	11	0	3	7
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	1/1:0,128,0:128:99:3971,384,0,3971,384,3971	0	17	3	0
chr9	134731520	134731520	G	A	exonic	COL5A1	.	nonsynonymous SNV	COL5A1:NM_000093:exon8:c.G1189A:p.A397T	Ehlers-Danlos syndrome, classic type, Autosomal dominant	.	0	1516	6	0	0	6	0.00197498	.	.	209999	Ehlers-Danlos_syndrome,_classic_type,_1|not_provided|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000|MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.0	B	0.001	U	1.000	N	0	N	-2.49	D	-0.620	T	0.412	T	0.052	0.523	6.835	1.39	-0.016	0.609	6.562	0.151	0.0771893346028	.	.	3.318e-05	0	0	0	0	6.042e-05	0	0	2.59e-05	4	154602	rs762108965	7.73e-05	7.73e-05	9.256e-05	6.188e-05	0.0003	6.532e-05	6.136e-05	8.036e-05	7.491e-05	0	0	0	0	0	0.0003	9.532e-05	8.279e-05	0	3.284e-05	3.283e-05	2.569e-05	4.033e-05	6.539e-05	1.261e-05	7.98e-06	4.88e-06	1.83e-06	2.412e-05	0	6.539e-05	0	0	0	0.0032	2.94e-05	0	0	0.604	0.05567	T	0.606	0.07791	T	0.0	0.02946	B	0.0	0.01387	B	0.000639	0.00658	U	5.069820	1	0.08975	N	0.345	0.11182	N	-2.49	0.89145	D	0.54	0.02764	N	0.151	0.17278	-0.6203	0.63976	T	0.412	0.76034	T	10	0.047104865	0.03985	T	0.077189	0.72712	D	0.151	0.39764	.	.	0.246926113748	0.24311	0.15244069689917342	0.15166	0.149736445379	0.16885	0.254793643951	0.04290	T	0.076875	0.35523	T	-0.248021	0.14343	T	-0.483983	0.24024	T	0.0261876286626785	0.01431	T	0.118888	0.00915	T	0.010926939	0.00011	0.033034746	0.02133	0.010926939	0.00011	0.033034746	0.02133	-3.659	0.18715	T	.	.	0.059	0.00979	B	.;.	.;.	0.231957	0.06131	2.577	0.78499395636870917	0.12327	0.00654	0.02841	N	AEFDGBI	0.024852	0.01606	N	-1.39048447718706	0.02726	0.120806	-1.37163142990805	0.03558	0.1661772	0.999657240060922	0.41424	0.706548	0.73137	0	0.547309	0.14657	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.8	1.39	0.21325	0.691000	0.25147	-0.365000	0.09647	-1.680000	0.00787	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6727:0.0:0.3273:0.0	6.562	0.21689	886	0.28090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	4763.98	35	chr9	134731520	.	G	A	4763.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.740e+00;DP=1126;ExcessHet=0.0000;FS=1.300;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=1.91;SOR=0.604	GT:AD:DP:GQ:PL	0/1:142,203:345:99:4778,0,3479	20	0	1	0
chr9	136011887	136011887	T	C	exonic	NACC2	.	nonsynonymous SNV	NACC2:NM_144653:exon6:c.A1393G:p.M465V,	.	.	412	1071	39	0	0	39	0.0178817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.01	B	0.004	B	0.000	D	0.959	D	0.695	N	0.08	T	-1.046	T	0.080	T	0.139	2.061	12.85	4.09	0.835	3.407	10.044	0.058	.	0.0079	0.00858626	0.0168	0.0012	0.0127	0	0.0199	0.0166	0.0072	0.0266	0.0070762	1094	154602	rs61742050	0.0091	0.0090	0.0086	0.0096	0.0208	0.0090	0.0089	0.0199	0.0196	0.0007	0.0049	0.0204	0.0001	0.0039	0.0087	0.0089	0.0091	0.0208	0.0071	0.0071	0.0068	0.0076	0.0199	0.0068	0.0066	0.0167	0.0155	0.0013	0.0077	0.0049	0.0204	0.0002	0.0064	0.0102	0.0101	0.0109	0.0199	0.229	0.18371	T	1.0	0.01155	T	0.01	0.15535	B	0.004	0.10090	B	0.000000	0.84330	D	0.048243	0.958512	0.38079	D	0.895	0.22405	L	0.08	0.61559	T	0.27	0.04306	N	0.19	0.20793	-1.0459	0.15563	T	0.080	0.31824	T	10	0.0054822266	0.00121	T	.	.	.	0.058	0.16647	.	.	0.513503867364	0.50992	0.23018189085281895	0.22933	0.687941237011	0.60407	0.775818347931	0.78298	T	0.161096	0.50521	T	-0.491651	0.00636	T	-0.462743	0.26300	T	0.00460462130183993	0.00049	T	0.720928	0.33404	T	0.18694432	0.40126	0.20599216	0.44794	0.18694432	0.40125	0.20599216	0.44793	-1.213	0.01269	T	.	.	0.086	0.10449	B	.;.	.;.	1.990718	0.25293	16.71	0.95937216529691349	0.28233	0.89977	0.50804	D	AEFBHCI	0.204167	0.33063	N	-0.361306863027207	0.26859	1.46913	-0.176787345977006	0.32391	1.842405	0.99999991120564	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.26897	0.05253	2	0.591603	0.36755	0	.	.	5.23	4.09	0.47038	2.762000	0.47278	3.343000	0.37723	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0797:0.0:0.9203	10.044	0.41345	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	5713.11	36	chr9	136011887	.	T	C	5713.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.519;DP=1158;ExcessHet=0.1072;FS=2.888;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.40;ReadPosRankSum=1.01;SOR=0.550	GT:AD:DP:GQ:PL	0/1:74,103:177:99:2730,0,2133	19	0	2	0
chr10	1020847	1020847	G	-	exonic	IDI2	.	frameshift deletion	IDI2:NM_033261:exon4:c.286delC:p.L96Wfs*9,	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.000798722	0.0010	0.0002	0.0024	0	0.0003	0.0011	0.0022	0.0009	0.0001537	4	26028	rs55836842	0.0009	0.0009	0.0008	0.0009	0.0027	0.0008	0.0008	0.0023	0.0021	0.0003	0.0027	0	0	0.0002	0.0009	0.0009	0.0007	0.0008	0.0009	0.0009	0.0008	0.0009	0.0035	0.0007	0.0007	0.0028	0.0025	0.0001	0	0.0035	0	0	0.0003	0	0.0009	0.0014	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1816.94	38	chr10	1020846	.	AG	A	1816.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.687;DP=822;ExcessHet=0.0000;FS=3.518;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.14;ReadPosRankSum=-1.745e+00;SOR=0.584	GT:AD:DP:GQ:PL	0/1:52,54:106:99:1831,0,1778	20	0	1	0
chr10	3138965	3138965	G	C	exonic	PITRM1	.	nonsynonymous SNV	PITRM1:NM_001242309:exon22:c.C2562G:p.I854M	.	.	436	1051	34	1	0	36	0.0168382	.	.	701321	PITRM1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.29	T	0.996	D	0.986	D	0.000	D	0.983	D	2.375	M	2.78	T	-0.903	T	0.030	T	0.639	3.068	16.24	-10.1	-2.285	-1.357	3.335	0.283	.	0.0072	0.00698882	0.0076	0.0018	0.0042	0.0092	0.0005	0.0076	0.0167	0.0148	0.0076066	1176	154602	rs2279219	0.0085	0.0085	0.0082	0.0088	0.0239	0.0084	0.0083	0.0207	0.0194	0.0017	0.0039	0.0188	0.0107	0.0012	0.0239	0.0083	0.0096	0.0149	0.0055	0.0055	0.0059	0.0051	0.0133	0.0052	0.0051	0.0106	0.0097	0.0013	0	0.0037	0.0153	0.0106	0.0011	0.0340	0.0076	0.0066	0.0133	0.002	0.78490	D	0.006	0.76473	D	0.996	0.68779	D	0.986	0.76916	D	0.000000	0.84330	D	0.048486	0.982543	0.39905	D	3.15	0.88382	M	2.78	0.11298	T	-2.06	0.50502	N	0.733	0.73375	-0.9028	0.47694	T	0.030	0.13023	T	10	0.0075713396	0.00172	T	.	.	.	0.283	0.60100	.	.	0.292787519742	0.28880	0.7876777912847144	0.78719	0.339281541877	0.35884	0.36477342248	0.20078	T	0.03237	0.22457	T	-0.406594	0.02095	T	-0.344497	0.39833	T	0.0919633649975755	0.11448	T	0.928507	0.76748	D	0.5679132	0.70946	0.32878715	0.58764	0.5679132	0.70947	0.32878715	0.58764	-8.724	0.65903	D	.	.	0.099	0.43815	B	.;.;.;.;.	.;.;.;.;.	-0.572070	0.01650	0.116	0.99290081191233992	0.58219	0.46315	0.27733	N	AEFGBCI	0.232223	0.35533	N	-0.67583953480814	0.16711	0.8538296	-0.985766165152834	0.10104	0.5068272	0.99999997108151	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.54	-10.1	0.00330	-1.340000	0.02756	-3.074000	0.03084	-0.158000	0.11653	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.2486:0.1044:0.4286:0.2184	3.335	0.06681	970	0.06235	Peptidase M16, C-terminal;.;.;Peptidase M16, C-terminal;Peptidase M16, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1974.98	37	chr10	3138965	.	G	C	1974.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=1030;ExcessHet=0.0000;FS=2.774;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=0.744;SOR=0.503	GT:AD:DP:GQ:PL	0/1:82,79:161:99:1989,0,1907	20	0	1	0
chr10	12081526	12081526	C	G	exonic	DHTKD1	.	nonsynonymous SNV	DHTKD1:NM_018706:exon2:c.C209G:p.A70G,	2-aminoadipic 2-oxoadipic aciduria, Autosomal recessive	.	9	1495	18	0	0	18	0.00598404	.	.	701217	not_specified|2-aminoadipic_2-oxoadipic_aciduria|not_provided	MedGen:CN169374|MONDO:MONDO:0008774,MedGen:C1859817,OMIM:204750,Orphanet:79154|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.36	T	0.59	P	0.334	B	0.000	D	1.000	D	1.265	L	3.46	T	-1.127	T	0.037	T	0.463	1.654	11.49	3.97	1.040	5.454	15.127	0.150	.	0.0059	0.00319489	0.0045	0.0017	0.0040	0.0002	0.0005	0.0068	0.0066	0.0012	0.0047024	727	154602	rs34644609	0.0062	0.0062	0.0063	0.0062	0.0072	0.0061	0.0061	0.0071	0.0070	0.0010	0.0049	0.0097	0	0.0003	0.0052	0.0072	0.0064	0.0015	0.0045	0.0044	0.0048	0.0041	0.0067	0.0042	0.0041	0.0062	0.0060	0.0014	0.0011	0.0060	0.0110	0	0	0.0102	0.0067	0.0085	0.0021	0.293	0.15251	T	0.368	0.41074	T	0.59	0.39078	P	0.334	0.42203	B	0.000001	0.84330	D	0.055008	0.999923	0.51308	D	2.56	0.74772	M	3.46	0.19588	T	-1.78	0.49519	N	0.702	0.70615	-1.1268	0.01941	T	0.037	0.15770	T	10	0.01060316	0.00235	T	.	.	.	0.150	0.39571	.	.	0.178374595973	0.17440	0.594701007844174	0.59400	0.118844224219	0.13383	0.668209910393	0.62583	T	0.009565	0.08705	T	-0.423215	0.01632	T	-0.372734	0.36569	T	0.0399143560601765	0.03674	T	0.959004	0.84537	D	0.46467647	0.64962	0.1924132	0.42753	0.47325695	0.65491	0.21461187	0.46017	-8.049	0.61404	D	0.20985722730014325	0.28104	0.187	0.49235	B	.;.	.;.	3.350464	0.46210	22.3	0.98523066238093404	0.42496	0.96894	0.71520	D	AEFDBI	0.738985	0.68369	D	-0.172164113216224	0.34296	1.955906	-0.129579179907513	0.34203	1.964862	0.999587962023971	0.40607	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.674467	0.66132	0	.	.	4.88	3.97	0.45241	5.573000	0.67117	5.742000	0.49579	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.8578:0.1422:0.0	15.127	0.72166	627	0.65350	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1855.98	33	chr10	12081526	.	C	G	1855.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.440e+00;DP=911;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=-3.300e-01;SOR=0.671	GT:AD:DP:GQ:PL	0/1:102,84:186:99:1870,0,2611	20	0	1	0
chr10	14842363	14842363	G	T	exonic	LOC100421372	.	nonsynonymous SNV	LOC100421372:NM_001378785:exon4:c.G79T:p.A27S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43139824	0.57514	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732589960098	0.71885	T	.	.	.	.	.	.	.	.	.	.	.	.	0.59564	0.22108	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.34819	B	.	.	3.194998	0.43421	21.7	0.88537950763593654	0.18056	0.82531	0.41745	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999993239205	0.74766	0.256867	0.04430	0	0.158463	0.03841	0	0.320204	0.05785	0	0.221052	0.04502	0	0.979908	0.84815	6.06	6.06	0.98340	4.838000	0.62495	11.895000	0.99196	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	16.125	0.81192	824	0.40336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	35.7	53	chr10	14842363	.	G	T	35.7	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-9.670e-01;DP=53;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:33:40,0,33	7	0	1	13
chr10	17109663	17109663	T	G	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon10:c.A1088C:p.D363A,	Megaloblastic anemia-1, Finnish type, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	1873394	Imerslund-Grasbeck_syndrome	MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.55	T	0.048	B	0.039	B	0.878	N	1.000	N	0.625	N	-2.62	D	-0.542	T	0.515	D	0.204	-0.228	2.899	4.49	1.061	2.022	6.422	0.162	0.0747618093001	.	0.000599042	0.0002	0	0	0.0003	0	0	0	0.0010	0.0001552	24	154602	rs138044409	5.884e-05	5.883e-05	2.451e-05	9.352e-05	0.0009	4.877e-05	4.497e-05	0.0008	0.0007	0	0	0	2.519e-05	0	0.0003	8.994e-07	1.656e-05	0.0009	6.571e-05	6.562e-05	3.857e-05	9.409e-05	0.0015	3.517e-05	2.616e-05	0.0007	0.0005	0	0	0	0	0.0004	0	0	0	0.0005	0.0015	0.682	0.04404	T	0.771	0.04461	T	0.048	0.22112	B	0.039	0.23607	B	0.878349	0.07219	N	1.079030	1	0.08975	N	0.485	0.13215	N	-2.62	0.90017	D	0.68	0.02228	N	0.304	0.34336	-0.5419	0.67092	T	0.515	0.81835	D	10	0.019956917	0.00452	T	0.074762	0.72121	D	0.162	0.41843	0.332	0.31843	0.739250118084	0.73691	0.38733875392464157	0.38648	0.1303486935	0.14704	0.225077971816	0.01624	T	0.166243	0.51240	T	-0.339102	0.05451	T	-0.305424	0.44148	T	0.0259111543482529	0.01394	T	0.316668	0.06305	T	0.08707209	0.20261	0.06542314	0.13256	0.08707209	0.20261	0.06542314	0.13256	-3.437	0.15559	T	0.2307643910516449	0.31225	0.073	0.04847	B	.	.	0.906489	0.12808	9.322	0.90015220587280753	0.19304	0.10097	0.15696	N	ALL	0.170438	0.29735	N	-0.799294426733457	0.13329	0.6558271	-0.744550963653823	0.15856	0.8359989	0.999999999782851	0.74766	0.616025	0.39624	0	0.573888	0.26702	0	0.597571	0.31856	0	0.677038	0.66255	0	.	.	5.64	4.49	0.54177	1.994000	0.40377	1.224000	0.24997	0.665000	0.62972	0.005000	0.17040	0.003000	0.18671	0.049000	0.15107	0.3408:0.0:0.1298:0.5294	6.422	0.20951	751	0.51694	EGF domain|EGF-like domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1117.98	36	chr10	17109663	.	T	G	1117.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.036;DP=799;ExcessHet=0.0000;FS=1.575;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=0.604;SOR=0.900	GT:AD:DP:GQ:PL	0/1:59,47:106:99:1132,0,1575	20	0	1	0
chr10	28238588	28238588	G	A	exonic	MPP7	.	nonsynonymous SNV	MPP7:NM_001318170:exon2:c.C17T:p.T6M	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.677	P	0.459	P	0.000	N	1.000	D	1.1	L	2.7	T	-1.070	T	0.083	T	0.277	2.632	14.76	5.16	1.571	6.263	13.615	0.095	0.0219607307967	.	.	1.648e-05	0	8.639e-05	0	0	1.499e-05	0	0	1.94e-05	3	154602	rs758713609	6.088e-05	6.088e-05	5.99e-05	6.188e-05	0.0003	5.028e-05	4.672e-05	6.092e-05	4.908e-05	2.987e-05	0	0	2.519e-05	0	0.0003	6.565e-05	9.935e-05	6.956e-05	3.943e-05	3.94e-05	6.424e-05	1.346e-05	8.82e-05	1.716e-05	1.13e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.82e-05	0	0	0.001	0.91255	D	0.053	0.92824	T	0.677	0.41330	P	0.459	0.46380	P	0.000016	0.62929	N	0.115089	0.771847	0.81001	D	1.78	0.46185	L	2.7	0.33189	T	-1.25	0.31576	N	0.493	0.52651	-1.0700	0.09413	T	0.083	0.32614	T	10	0.22991896	0.39931	T	0.021961	0.44796	T	0.095	0.27398	0.189	0.09907	0.571034400148	0.56769	0.3344909218999742	0.33362	0.305461879015	0.32852	0.612597227097	0.54683	T	0.033079	0.22763	T	-0.166897	0.25704	T	-0.380658	0.35644	T	0.753398060798645	0.43475	D	0.913709	0.69301	D	0.13428687	0.31206	0.16533205	0.38253	0.13428687	0.31206	0.16533205	0.38252	-5.625	0.43020	T	.	.	0.191	0.41000	B	.;.;.;.	.;.;.;.	4.508594	0.70581	25.5	0.99748953815598418	0.84077	0.97220	0.73400	D	AEFI	0.524237	0.54751	D	0.0931330413843866	0.46141	2.859268	0.0963674247496838	0.44365	2.719723	0.999995051963763	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	6.07	5.16	0.70563	6.790000	0.74902	8.564000	0.77578	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.499000	0.28994	0.0713:0.0:0.9287:0.0	13.615	0.61572	636	0.64483	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2398.98	38	chr10	28238588	.	G	A	2398.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.565;DP=914;ExcessHet=0.0000;FS=1.104;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=1.61;SOR=0.611	GT:AD:DP:GQ:PL	0/1:94,100:194:99:2413,0,2162	20	0	1	0
chr10	30313715	30313715	T	G	exonic	MTPAP	.	nonsynonymous SNV	MTPAP:NM_018109:exon9:c.A1643C:p.K548T,	.	.	1	1518	3	0	0	3	0.000987167	.	.	441369	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.914	P	0.34	B	0.062	N	1.000	N	1.95	M	2.19	T	-0.892	T	0.077	T	0.15	-0.650	1.139	-6.5	-1.799	0.123	11.034	0.102	0.0141472237421	7.7e-05	0.000199681	0.0002	0	0	0.0001	0	0.0001	0.0011	0.0007	0.0001358	21	154602	rs372986653	8.209e-05	8.209e-05	5.173e-05	0.0001	0.0014	7.002e-05	6.552e-05	0.0007	0.0006	0	0	0	0	5.616e-05	0.0014	3.237e-05	1.656e-05	0.0008	2.625e-05	3.28e-05	1.284e-05	4.026e-05	0.0004	8.13e-06	5.14e-06	7.29e-05	3.029e-05	0	0	0	0	0	0.0002	0	0	0	0.0004	0.09	0.31987	T	0.232	0.24987	T	0.112	0.26290	B	0.068	0.27651	B	0.062160	0.02152	N	1.923830	1	0.08975	N	1.935	0.51832	L	1.49	0.31470	T	-0.64	0.18670	N	0.129	0.12341	-0.8916	0.48793	T	0.077	0.30706	T	10	0.025054514	0.00712	T	0.014147	0.34071	T	0.102	0.29158	.	.	0.306606720791	0.30265	0.18838596122357623	0.18756	0.50423346678	0.48713	0.247181519866	0.03477	T	0.017052	0.13979	T	-0.522469	0.00425	T	-0.596072	0.13144	T	0.0578293998697371	0.06823	T	0.223478	0.02897	T	0.02416422	0.01221	0.025712123	0.00627	0.02416422	0.01220	0.025712123	0.00626	-3.786	0.20595	T	.	.	0.082	0.08657	B	.	.	-0.117288	0.03540	0.677	0.43090198352826697	0.03220	0.32021	0.24483	N	AEFDBHCI	0.160697	0.28667	N	-1.27039978080796	0.04037	0.181449	-1.46533706995465	0.02634	0.1215013	0.110542801648736	0.16636	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.86	-6.5	0.01714	0.032000	0.13620	0.251000	0.16428	-0.118000	0.14412	0.008000	0.17931	0.001000	0.17328	0.001000	0.02609	0.0983:0.5926:0.0:0.3091	11.034	0.47006	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1918.98	33	chr10	30313715	.	T	G	1918.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.335e+00;DP=848;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-5.250e-01;SOR=0.727	GT:AD:DP:GQ:PL	0/1:84,79:163:99:1933,0,2287	20	0	1	0
chr10	46550408	46550408	C	T	exonic	GPRIN2	.	nonsynonymous SNV	GPRIN2:NM_001385275:exon3:c.G329A:p.R110Q	.	.	394	1109	19	0	0	19	0.00849352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.872	P	0.437	B	0.073	N	1.000	N	0.695	N	3.9	T	-0.919	T	0.009	T	0.32	1.423	10.70	1.18	0.131	0.341	7.374	0.052	0.00412282548505	.	.	.	.	.	.	.	.	.	.	.	.	.	rs140015219	0.0051	0.0078	0.0052	0.0051	0.0104	0.0051	0.0050	0.0082	0.0075	0.0009	0.0019	0.0002	2.52e-05	0.0088	0.0104	0.0058	0.0052	0.0013	0.0046	0.0060	0.0047	0.0045	0.0066	0.0043	0.0042	0.0061	0.0059	0.0013	0.0011	0.0049	0.0003	0.0002	0.0101	0.0034	0.0066	0.0047	0.0010	0.244	0.17468	T	0.561	0.09083	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.94	0.03408	T	-0.04	0.07590	N	0.14	0.13911	.	.	.	.	.	.	.	0.009417057	0.00213	T	.	.	.	.	.	.	.	.	.	0.17394575088259248	0.17314	.	.	.	.	.	0.002431	0.01826	T	.	.	.	.	.	.	.	.	.	0.60234	0.22547	T	.	.	.	.	.	.	.	.	-3.686	0.19112	T	.	.	0.079	0.07177	B	.;.	.;.	0.909202	0.12836	9.349	.	.	.	.	.	.	0.056669	0.10495	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.083000	0.11250	-5.714000	0.01621	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.567000	0.30579	.	.	.	970	0.06235	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	651.98	103	chr10	46550408	.	C	T	651.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=2627;ExcessHet=0.0000;FS=1.612;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.87;ReadPosRankSum=-3.050e-01;SOR=0.633	GT:AD:DP:GQ:PL	0/1:101,33:134:99:666,0,2668	20	0	1	0
chr10	49323866	49323866	T	C	exonic	C10orf71	.	nonsynonymous SNV	C10orf71:NM_001135196:exon3:c.T1321C:p.F441L,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.999	D	0.002	N	1.000	D	1.995	M	1.76	T	-0.532	T	0.279	T	0.825	4.226	22.0	5.48	2.084	7.228	15.619	0.335	0.0327874610939	0.0003	.	0.0004	0.0001	0	0	0	0.0006	0.0011	0.0002	0.0003169	49	154602	rs373240081	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0005	0.0003	0	2.236e-05	0.0059	0	0	0.0010	8.814e-05	0.0005	0.0004	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0001	8.894e-05	0	0	6.575e-05	0.0078	0	0	0	0.0002	0.0010	0.0002	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.001501	0.38855	N	0.000000	1.000	0.50806	D	.	.	.	1.76	0.25996	T	-3.08	0.63323	D	0.764	0.76203	-0.5325	0.67447	T	0.279	0.65099	T	10	0.06548667	0.08841	T	0.032787	0.54518	D	0.335	0.65718	0.109	0.01988	0.582989276457	0.57971	0.34349756402794274	0.34262	0.928783125732	0.71741	.	.	.	.	.	.	-0.0835275	0.39138	T	-0.057434	0.66511	T	0.123920231947768	0.14809	T	0.582242	0.21111	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.978	0.90793	P	.	.	4.364100	0.67135	25.1	0.99902977604519061	0.97426	0.99581	0.97668	D	AEDBI	0.889810	0.82425	D	0.639805947225011	0.75711	6.35444	0.587307496751269	0.74027	6.068118	0.999999884709662	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.48	5.48	0.80675	7.496000	0.80367	5.094000	0.47379	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.772000	0.36596	0.0:0.0:0.0:1.0	15.619	0.76536	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1705.98	80	chr10	49323866	.	T	C	1705.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.177e+00;DP=1565;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=0.796;SOR=0.656	GT:AD:DP:GQ:PL	0/1:67,80:147:99:1720,0,1768	20	0	1	0
chr10	68431878	68431878	G	A	exonic	DNA2	.	nonsynonymous SNV	DNA2:NM_001080449:exon13:c.C1967T:p.T656I,	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	1.000	D	2.735	M	0.22	T	0.618	D	0.759	D	0.926	5.171	32	5.62	2.656	9.622	19.714	0.812	0.193114371301	.	.	8.284e-06	0	0	0	0	0	0	6.064e-05	6.5e-06	1	154602	rs777761639	9.596e-06	9.577e-06	6.82e-06	1.24e-05	0.0002	5.57e-06	4.36e-06	9.83e-05	7.869e-05	0	0	0	0	0	0	0	0	0.0002	1.314e-05	1.313e-05	0	2.69e-05	0.0004	2.18e-06	8.2e-07	7.282e-05	3.026e-05	0	0	0	0	0	0	0	0	0	0.0004	0.003	0.91255	D	0.002	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.2	0.62015	M	-1.8	0.83893	D	-4.36	0.84601	D	0.933	0.97426	0.618	0.92126	D	0.759	0.91777	D	10	0.8686234	0.86118	D	0.193114	0.86284	D	0.812	0.93931	0.614	0.74768	0.952982824142	0.95248	0.8637815541565348	0.86342	0.570495183311	0.53208	0.830244660378	0.86600	D	0.745969	0.93001	D	0.30069	0.83025	D	0.398694	0.92069	D	0.746105826609973	0.43069	D	0.960304	0.93421	D	0.8318361	0.86030	0.7678015	0.86287	0.8318361	0.86032	0.7678015	0.86288	-17.997	0.99523	D	0.9443538078386684	0.97919	0.92	0.85993	P	.;.;.	.;.;.	5.488056	0.91455	32	0.99925551563688086	0.99042	0.99679	0.98601	D	AEFBI	0.904271	0.85436	D	0.973689994732636	0.94876	13.11528	0.939762741019419	0.97084	15.56612	0.999999998510921	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.62	5.62	0.85714	9.756000	0.98104	11.809000	0.96880	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.714	0.96103	910	0.22284	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2109.98	33	chr10	68431878	.	G	A	2109.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.530e-01;DP=872;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=0.564;SOR=0.700	GT:AD:DP:GQ:PL	0/1:98,90:188:99:2124,0,2453	20	0	1	0
chr10	68884949	68884949	G	A	exonic	STOX1	.	nonsynonymous SNV	STOX1:NM_001130161:exon3:c.G1153A:p.E385K	Preeclampsia/eclampsia 4	.	0	1509	12	1	0	14	0.00461741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.826	P	0.000	D	1.000	D	2.56	M	-1.62	D	0.591	D	0.740	D	0.577	4.087	21.0	5.72	2.699	9.633	19.875	0.566	.	0.0002	0.00998403	0.0058	0.0002	0.0002	0.0002	0	0.0003	0.0022	0.0406	0.0050646	783	154602	rs200117499	0.0025	0.0025	0.0015	0.0036	0.0380	0.0025	0.0024	0.0369	0.0365	0.0005	8.944e-05	0.0032	2.519e-05	0	0.0026	0.0001	0.0031	0.0380	0.0014	0.0014	0.0007	0.0021	0.0363	0.0012	0.0011	0.0319	0.0302	0.0001	0	0.0001	0.0020	0.0002	0	0	0.0002	0.0009	0.0363	0.006	0.61437	D	0.0	0.92824	D	0.999	0.77913	D	0.826	0.59373	P	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	3.21	0.89262	M	-1.62	0.82347	D	-3.03	0.62747	D	0.573	0.59563	0.591	0.91785	D	0.740	0.91123	D	10	0.007938951	0.00180	T	.	.	.	0.566	0.82289	.	.	0.838516671336	0.83697	0.5094777767590273	0.50869	0.392926069305	0.40471	0.489928007126	0.37428	T	0.217738	0.58026	T	-0.199982	0.20807	T	-0.0314683	0.68270	D	0.134576356795939	0.15798	T	0.857914	0.54791	D	0.47448382	0.65565	0.36013976	0.61461	0.5035106	0.67302	0.36013976	0.61461	-6.363	0.49220	T	0.77365992344935	0.85439	0.132	0.45086	B	.;.;.	.;.;.	3.992822	0.58778	24.0	0.9990849136747314	0.97875	0.99788	0.99470	D	AEFBI	0.905740	0.85763	D	0.796221694347726	0.85869	8.706829	0.749981216235556	0.86154	8.799867	0.999999999243709	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.72	5.72	0.89380	9.765000	0.98142	9.751000	0.81472	-0.167000	0.11441	1.000000	0.71638	1.000000	0.68203	0.112000	0.18829	0.0:0.0:1.0:0.0	19.875	0.96865	676	0.60355	.;.;.	.	.	.	.	.	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	2932.98	101	chr10	68884949	.	G	A	2932.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.880e-01;DP=960;ExcessHet=0.0000;FS=1.146;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.20;ReadPosRankSum=1.60;SOR=0.582	GT:AD:DP:GQ:PL	0/1:82,111:193:99:2947,0,2009	20	0	1	0
chr10	71296712	71296712	G	C	exonic	UNC5B	.	nonsynonymous SNV	UNC5B:NM_001244889:exon14:c.G2427C:p.Q809H	.	.	.	.	.	.	.	.	.	.	.	2348010	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.999	D	0.000	D	1.000	D	2.56	M	0.59	T	-0.412	T	0.324	T	0.719	3.863	19.63	3.92	1.729	7.187	10.694	0.367	0.0204609317503	0.0005	.	0.0004	0	0	0	0	0.0006	0	0.0005	0.0006916	18	26028	rs140171403	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0003	0.0003	5.996e-05	2.248e-05	3.863e-05	2.521e-05	1.889e-05	0.0002	0.0003	0.0003	0.0003	0.0001	0.0002	0.0002	8.214e-05	0.0006	7.724e-05	6.403e-05	0.0002	0.0001	0	0	0	0	0.0002	0	0	0.0002	0	0.0006	0.065	0.36310	T	0.002	0.79402	D	1.0	0.90584	D	0.997	0.92359	D	0.000011	0.62929	D	0.068121	1	0.81001	D	2.735	0.79925	M	0.59	0.55090	T	-4.77	0.80425	D	0.732	0.73285	-0.4121	0.71643	T	0.324	0.69289	T	10	0.6572045	0.69943	D	0.020461	0.43059	T	0.367	0.68670	0.529	0.63560	0.826691596	0.82505	0.778203457284303	0.77770	0.628086612755	0.56883	0.617977499962	0.55443	T	0.51351	0.82848	D	-0.100704	0.36308	T	-0.0461708	0.67283	D	0.791668355464935	0.45799	D	0.944006	0.78847	D	0.3522559	0.57242	0.2896455	0.54985	0.3522559	0.57242	0.2896455	0.54984	-8.91	0.67116	D	.	.	0.751	0.75395	P	.;.	.;.	4.153920	0.62332	24.4	0.9975001445988021	0.84152	0.98625	0.84843	D	AEFBI	0.845176	0.76210	D	0.683711834625781	0.78567	6.897349	0.599271055539245	0.74887	6.214286	0.999999808819775	0.74766	0.732398	0.92422	0	0.563428	0.19063	0	0.743671	0.96076	0	0.586402	0.36253	0	.	.	3.92	3.92	0.44525	7.320000	0.78350	5.292000	0.48211	0.522000	0.23927	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0961:0.0:0.9039:0.0	10.694	0.45083	900	0.24599	UPA 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	1158.98	36	chr10	71296712	.	G	C	1158.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.054;DP=783;ExcessHet=0.0000;FS=4.151;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=-5.000e-01;SOR=0.578	GT:AD:DP:GQ:PL	0/1:36,51:87:99:1173,0,757	20	0	1	0
chr10	71705013	71705013	G	A	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon24:c.G2836A:p.V946M	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	YES	.	.	.	.	.	.	.	.	.	496531	not_provided|not_specified|Usher_syndrome_type_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.41	T	0.996	D	0.872	P	0.001	D	1.000	D	1.265	L	.	.	-0.916	T	0.181	T	0.162	3.782	19.20	3.53	1.314	3.087	8.582	0.183	0.00942029683707	.	.	.	.	.	.	.	.	.	.	.	.	.	rs931850625	9.586e-06	9.577e-06	1.09e-05	8.258e-06	0.0001	5.56e-06	4.35e-06	5.849e-05	3.758e-05	0.0001	0	0	0	0	0	6.296e-06	1.657e-05	1.159e-05	1.315e-05	1.313e-05	0	2.691e-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	.	.	.	0.084	0.55759	T	0.627	0.40110	P	0.23	0.38212	B	0.000657	0.42656	D	0.091610	0.91807	0.36597	D	2.11	0.58565	M	.	.	.	.	.	.	0.335	0.39558	-0.9161	0.46076	T	0.181	0.52813	T	9	0.34992605	0.51875	T	0.00942	0.24693	T	0.183	0.45592	.	.	0.822008364064	0.82033	0.17694574319835527	0.17613	.	.	0.417851090431	0.27541	T	0.015108	0.46904	T	-0.280327	0.10633	T	-0.403778	0.32945	T	0.690274119377136	0.40260	D	0.765423	0.39305	T	0.02416732	0.01222	0.08383662	0.19242	0.02416732	0.01222	0.08383662	0.19242	-4.842	0.35077	T	.	.	0.071	0.06663	B	.;.;.;.;.;.	.;.;.;.;.;.	3.290401	0.45128	22.1	0.99849218584555299	0.92838	0.89190	0.49507	D	AEFDGBI	0.363063	0.45209	N	0.0767140295424567	0.45379	2.795355	0.157618041793782	0.47547	2.983315	0.99999610174804	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.5	3.53	0.39533	3.135000	0.50241	1.238000	0.25088	0.676000	0.76740	0.999000	0.42656	0.727000	0.26391	0.431000	0.27472	0.0894:0.33:0.5806:0.0	8.582	0.32798	814	0.42100	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2256.98	36	chr10	71705013	.	G	A	2256.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=908;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=-7.750e-01;SOR=0.670	GT:AD:DP:GQ:PL	0/1:91,92:183:99:2271,0,2091	20	0	1	0
chr10	71732316	71732316	C	T	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon31:c.C4045T:p.R1349C	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	.	0	1519	3	0	0	3	0.000986518	.	.	55101	not_provided|Usher_syndrome_type_1D|CDH23-related_disorder|not_specified|Usher_syndrome_type_1|Autosomal_recessive_nonsyndromic_hearing_loss_12	MedGen:C3661900|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|.|MedGen:CN169374|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.999	D	0.954	D	0.000	D	1.000	D	1.445	L	.	.	-0.754	T	0.205	T	0.699	3.112	16.40	4.02	2.756	4.822	11.068	0.132	0.0155882149193	0.0035	0.00179712	0.0026	0.0009	0.0017	0	0.0002	0.0036	0.0067	0.0021	0.0026002	402	154602	rs41281318	0.0046	0.0046	0.0048	0.0044	0.0055	0.0045	0.0044	0.0054	0.0053	0.0008	0.0027	3.854e-05	0	0.0002	0.0005	0.0055	0.0041	0.0020	0.0028	0.0028	0.0030	0.0026	0.0047	0.0026	0.0025	0.0043	0.0041	0.0010	0	0.0034	0	0	0.0002	0.0034	0.0047	0.0019	0.0012	.	.	.	0.002	0.83351	D	0.999	0.77913	D	0.954	0.69447	D	0.000166	0.48594	D	0.129512	1	0.81001	D	1.65	0.42232	L	.	.	.	.	.	.	0.563	0.65758	-0.7541	0.57721	T	0.205	0.56266	T	9	0.012268841	0.00264	T	0.015588	0.36407	T	0.132	0.35948	.	.	0.871030881652	0.86977	0.5785023741125704	0.57779	.	.	0.42542681098	0.28583	T	0.052745	0.66734	T	-0.160308	0.26712	T	0.00151803	0.70435	D	0.0250141886665106	0.01274	T	0.944306	0.78939	D	0.27027136	0.50099	0.16805953	0.38737	0.46063903	0.64711	0.28347036	0.54339	-10.928	0.79262	D	.	.	0.266	0.50025	B	.;.;.;.	.;.;.;.	4.358342	0.66997	25.0	0.99943925356924379	0.99868	0.93420	0.58169	D	AEFBI	0.868756	0.78901	D	0.464164963355541	0.65011	4.769109	0.431493925314599	0.63536	4.589427	0.999999596082398	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.99	4.02	0.45968	4.878000	0.62786	4.150000	0.42143	0.530000	0.24713	1.000000	0.71638	0.983000	0.30585	0.150000	0.20306	0.3505:0.6495:0.0:0.0	11.068	0.47206	814	0.42100	.;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	3380.98	36	chr10	71732316	.	C	T	3380.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.36;DP=901;ExcessHet=0.0000;FS=3.277;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.99;ReadPosRankSum=-2.266e+00;SOR=0.487	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,118:199:99:0|1:71732316_C_T:3395,0,1742:71732316	20	0	1	0
chr10	86681689	86681689	C	T	exonic	LDB3	.	nonsynonymous SNV	LDB3:NM_001080115:exon5:c.C575T:p.P192L	Cardiomyopathy, dilated, 1C, with or without LVNC, Autosomal dominant;Cardiomyopathy, hypertrophic, 24, Autosomal dominant;Left ventricular noncompaction 3, Autosomal dominant;Myopathy, myofibrillar, 4, Autosomal dominant	.	0	1521	0	1	0	2	0.00065703	.	.	359872	Myofibrillar_myopathy_4|not_specified|Cardiovascular_phenotype	MONDO:MONDO:0012277,MedGen:C4721886,OMIM:609452,Orphanet:98912|MedGen:CN169374|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.981	D	0.591	P	0.006	N	1.000	N	1.995	M	1.13	T	-0.824	T	0.200	T	0.439	2.288	13.61	3.63	2.676	2.002	14.745	0.120	0.0351629380014	.	.	1.672e-05	0	0	0	0	3.047e-05	0	0	1.29e-05	2	154602	rs758182278	9.581e-06	9.577e-06	8.171e-06	1.101e-05	0.0003	5.56e-06	4.35e-06	6.092e-05	2.521e-05	0	0	0	0.0001	1.887e-05	0.0003	5.396e-06	0	1.16e-05	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.004	0.72154	D	0.009	0.67890	D	0.824	0.59675	P	0.06	0.50479	B	0.006431	0.32040	N	0.000000	0.999957	0.19853	N	2.39	0.68882	M	0.8	0.55608	T	-2.11	0.67589	N	0.441	0.48963	-0.8242	0.53670	T	0.200	0.55584	T	10	0.28315797	0.45895	T	0.035163	0.56165	D	0.120	0.33359	0.22	0.14224	0.774162565452	0.77209	0.8232927986606182	0.82286	0.211927572695	0.23693	0.429125189781	0.29089	T	0.705596	0.91560	D	-0.184469	0.23074	T	-0.321225	0.42441	T	0.288897067308426	0.24544	T	0.838216	0.51127	T	0.19759618	0.41630	0.26611868	0.52453	0.19759618	0.41630	0.26611868	0.52452	-7.049	0.60968	T	.	.	0.105	0.20819	B	.;.;.;.;.;.	.;.;.;.;.;.	3.400518	0.47126	22.4	0.99781528727270496	0.86780	0.87649	0.47259	D	AEFDGBI	0.359826	0.45001	N	-0.018136164422839	0.41036	2.447375	-0.00573797808008088	0.39455	2.339671	0.999988767079514	0.51787	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.67	3.63	0.40741	1.889000	0.39352	0.834000	0.21977	0.599000	0.40250	0.939000	0.32602	0.246000	0.23885	0.291000	0.24285	0.2391:0.7609:0.0:0.0	14.745	0.69105	892	0.26670	.;.;Zasp-like motif;Zasp-like motif;Zasp-like motif;.	.	.	.	.	.	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	1473.98	35	chr10	86681689	.	C	T	1473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.23;DP=869;ExcessHet=0.0000;FS=2.906;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.45;ReadPosRankSum=-7.500e-01;SOR=0.925	GT:AD:DP:GQ:PL	0/1:95,61:156:99:1488,0,2189	20	0	1	0
chr10	96982331	96982331	T	C	exonic	LCOR	.	nonsynonymous SNV	LCOR:NM_001346516:exon8:c.T1871C:p.L624P,	.	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.02	B	0.016	B	0.055	N	1.000	N	0.345	N	3.06	T	-0.954	T	0.007	T	0.116	0.493	6.674	2.49	0.189	-0.378	8.091	0.027	.	0.0078	0.00838658	0.0030	0.0203	0.0027	0	0	0.0017	0.0066	0	0.0030983	479	154602	rs7082522	0.0018	0.0018	0.0018	0.0017	0.0222	0.0017	0.0017	0.0208	0.0203	0.0222	0.0042	0.0073	2.519e-05	3.744e-05	0.0104	0.0010	0.0042	8.115e-05	0.0074	0.0074	0.0076	0.0072	0.0217	0.0071	0.0069	0.0205	0.0200	0.0217	0.0055	0.0061	0.0078	0	0	0.0204	0.0012	0.0071	0	0.141	0.25560	T	0.256	0.23298	T	.	.	.	.	.	.	0.055461	0.22641	N	0.311072	0.999875	0.19925	N	.	.	.	3.06	0.08634	T	-0.81	0.22294	N	0.087	0.06454	-0.9541	0.40256	T	0.007	0.02282	T	10	0.0027615726	0.00043	T	.	.	.	0.027	0.05988	.	.	0.043077524339	0.03247	0.2180928918519626	0.21725	0.283218286441	0.30771	.	.	.	.	.	.	-0.65109	0.00071	T	-0.691103	0.06325	T	0.00143804782973993	0.00014	T	0.542346	0.18433	T	.	.	.	.	.	.	.	.	-3.67	0.18876	T	.	.	0.088	0.11797	B	.;.	.;.	0.962435	0.13393	9.896	0.89368848344161944	0.18737	0.17318	0.19785	N	AEFDBHCI	0.059029	0.11119	N	-0.817556475553716	0.12861	0.6297269	-0.738848264615493	0.15997	0.8441194	0.940671996663854	0.27442	0.651	0.46895	0	0.615513	0.52658	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.05	2.49	0.29274	-0.313000	0.08143	0.919000	0.22689	0.665000	0.62972	0.000000	0.06391	0.001000	0.17328	0.903000	0.43903	0.0:0.3649:0.0:0.6351	8.091	0.29962	711	0.56613	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2331.98	33	chr10	96982331	.	T	C	2331.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.086e+00;DP=996;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=-5.170e-01;SOR=0.668	GT:AD:DP:GQ:PL	0/1:83,84:167:99:2346,0,2389	20	0	1	0
chr10	99661522	99661522	G	A	exonic	ENTPD7	.	nonsynonymous SNV	ENTPD7:NM_001349963:exon3:c.G85A:p.V29M	.	.	429	1035	57	1	0	59	0.0277125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.911	P	0.491	P	0.009	N	0.996	N	0.55	N	2.43	T	-1.068	T	0.033	T	0.502	3.266	16.96	4.77	1.377	1.251	11.196	0.062	.	0.0012	0.00199681	0.0034	9.612e-05	0.0036	0	0.0003	0.0025	0.0066	0.0113	0.0029495	456	154602	rs35229854	0.0020	0.0020	0.0016	0.0024	0.0206	0.0019	0.0019	0.0176	0.0165	0.0001	0.0030	0.0064	0	0.0003	0.0206	0.0011	0.0029	0.0118	0.0015	0.0015	0.0014	0.0016	0.0112	0.0014	0.0013	0.0088	0.0080	0.0001	0	0.0021	0.0078	0	9.454e-05	0.0034	0.0016	0.0029	0.0112	0.037	0.43085	D	0.174	0.30045	T	0.911	0.50336	P	0.491	0.47360	P	0.008670	0.30726	N	0.274711	0.996233	0.23076	N	1.5	0.37844	L	2.43	0.15261	T	-0.45	0.14782	N	0.528	0.55713	-1.0678	0.09903	T	0.033	0.14247	T	10	0.009385347	0.00212	T	.	.	.	0.062	0.17934	.	.	0.139678290688	0.13603	0.30423648248339563	0.30336	0.300151110896	0.32375	0.574234604836	0.49276	T	0.012203	0.10769	T	-0.465401	0.00909	T	-0.430905	0.29832	T	0.0340382042267121	0.02645	T	0.748625	0.36937	T	0.037930403	0.04957	0.052645225	0.08714	0.037930403	0.04957	0.052645225	0.08714	-4.611	0.32310	T	.	.	0.116	0.23360	B	.	.	2.997068	0.40031	21.1	0.99836436235638792	0.91714	0.39375	0.26199	N	ALL	0.077766	0.15674	N	0.0143417437295452	0.42508	2.562465	0.0522063431327149	0.42178	2.546715	1.0	0.98316	0.730579	0.87903	0	0.633656	0.55848	0	0.49644	0.08281	0	0.648885	0.59868	0	.	.	5.68	4.77	0.60425	1.296000	0.32994	4.278000	0.42871	-0.153000	0.12021	0.995000	0.38783	1.000000	0.68203	0.950000	0.49671	0.0:0.1384:0.7181:0.1435	11.196	0.47943	838	0.37812	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2567.11	35	chr10	99661522	.	G	A	2567.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.10;DP=870;ExcessHet=0.1072;FS=3.059;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=2.02;SOR=0.902	GT:AD:DP:GQ:PL	0/1:59,50:109:99:1251,0,1596	19	0	2	0
chr10	99929961	99929961	T	C	exonic	DNMBP	.	nonsynonymous SNV	DNMBP:NM_001318326:exon1:c.A803G:p.Y268C,	.	.	424	1086	12	0	0	12	0.00549451	.	.	3210188	DNMBP-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00279553	0.0096	0	0	0	0	0	0	0.0155	0.0009056	140	154602	rs552702605	0.0019	0.0016	0.0011	0.0025	0.0133	0.0018	0.0017	0.0126	0.0123	6.332e-05	0.0006	0.0002	3.115e-05	0	0.0032	0.0004	0.0012	0.0133	0.0006	0.0006	0.0005	0.0007	0.0120	0.0005	0.0005	0.0095	0.0087	0.0001	0	0.0003	0	0	0	0	0.0003	0.0024	0.0120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0045203567	0.00093	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473153	0.14076	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10883	B	.	.	-0.403275	0.02200	0.219	0.55676102711941455	0.05392	0.06415	0.12420	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.999971726773416	0.50053	0.099367	0.02607	0	0.104858	0.03167	0	0.083675	0.02720	0	0.119812	0.03901	0	0.0545974	0.12435	5.67	-4.82	0.02938	-0.892000	0.04239	-3.559000	0.02696	-0.122000	0.13826	0.000000	0.06391	0.000000	0.08366	0.079000	0.17189	0.0:0.5486:0.1404:0.311	9.574	0.38610	409	0.82198	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3613.98	34	chr10	99929961	.	T	C	3613.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.46;DP=2051;ExcessHet=0.0000;FS=3.199;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-4.930e-01;SOR=0.668	GT:AD:DP:GQ:PL	0/1:153,135:288:99:3628,0,3911	20	0	1	0
chr10	102381220	102381220	C	T	exonic	GBF1	.	nonsynonymous SNV	GBF1:NM_001377139:exon37:c.C4970T:p.P1657L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.196	B	0.018	B	0.291	N	0.996	D	0.55	N	2.81	T	-0.991	T	0.017	T	0.289	0.189	5.015	3.68	1.627	0.569	8.812	0.030	0.00889664357715	.	0.000199681	5.793e-05	0	0	0.0003	0	3.015e-05	0	0.0001	5.17e-05	8	154602	rs201007711	4.173e-05	4.173e-05	4.629e-05	3.713e-05	0.0003	3.311e-05	3.001e-05	0.0001	0.0001	0	0	0	0.0003	0	0	3.957e-05	3.312e-05	5.797e-05	5.91e-05	5.906e-05	6.424e-05	5.372e-05	0.0006	3.075e-05	2.209e-05	0.0002	8.398e-05	2.406e-05	0	0	0	0.0006	0	0	7.351e-05	0	0	0.02	0.49613	D	0.242	0.24264	T	0.196	0.29532	B	0.018	0.18489	B	0.291345	0.14763	N	0.702507	0.996146	0.43041	D	0.895	0.22405	L	2.81	0.10975	T	-1.3	0.32590	N	0.292	0.33030	-0.9905	0.32475	T	0.017	0.07045	T	10	0.042312562	0.02969	T	0.008897	0.23463	T	0.030	0.07022	.	.	0.350307294319	0.34646	0.30331666000745344	0.30244	0.104754393679	0.11852	0.399553239346	0.25007	T	0.03718	0.24379	T	-0.425968	0.01568	T	-0.540782	0.18219	T	0.057075843366282	0.06700	T	0.79922	0.44465	T	0.048789892	0.08559	0.047204938	0.06748	0.048789892	0.08559	0.047204938	0.06747	-3.93	0.22753	T	.	.	0.053	0.00248	B	.	.	2.290877	0.29305	18.08	0.3382507595790965	0.02036	0.17389	0.19816	N	AEFBI	0.087657	0.17773	N	-0.532150149068177	0.21046	1.114097	-0.453208652427084	0.23458	1.279372	0.00971026040171657	0.11900	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.65	3.68	0.41359	0.593000	0.23700	2.184000	0.31153	0.599000	0.40250	0.007000	0.17678	0.995000	0.32472	0.057000	0.15750	0.1584:0.759:0.0:0.0826	8.812	0.34132	722	0.55239	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	714.98	41	chr10	102381220	.	C	T	714.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=763;ExcessHet=0.0000;FS=4.010;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=-4.860e-01;SOR=1.414	GT:AD:DP:GQ:PL	0/1:25,27:52:99:729,0,556	20	0	1	0
chr10	115847889	115847889	C	G	exonic	ATRNL1	.	nonsynonymous SNV	ATRNL1:NM_207303:exon28:c.C3916G:p.P1306A,	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.991	D	0.000	D	1.000	D	1.775	L	0.85	T	-0.584	T	0.287	T	0.628	3.825	19.43	5.57	2.622	6.798	19.542	0.352	0.0180793231555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.375e-06	1.368e-06	1.368e-06	1.381e-06	9.042e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.042e-07	1.664e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.34621	T	0.11	0.37310	T	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.053450	0.999783	0.50225	D	2.235	0.63160	M	0.85	0.47130	T	-5.4	0.85103	D	0.733	0.73375	-0.5839	0.65463	T	0.287	0.65841	T	10	0.78630996	0.78277	D	0.018079	0.40021	T	0.352	0.67326	0.558	0.67684	0.437144778361	0.43335	0.7639150037431048	0.76339	0.381961745973	0.39540	0.615199923515	0.55051	T	0.308614	0.68070	T	-0.00736586	0.50634	T	-0.248357	0.49978	T	0.953501641750336	0.64042	D	0.969003	0.88824	D	0.22891748	0.45620	0.4499071	0.67984	0.22891748	0.45620	0.4499071	0.67984	-3.045	0.10674	T	.	.	0.546	0.66596	A	.	.	4.162615	0.62525	24.5	0.99399531747528969	0.62748	0.97603	0.75838	D	AEFI	0.787494	0.71726	D	0.723388919640252	0.81165	7.458883	0.711034864401431	0.83215	7.964054	0.999999997490514	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.57	5.57	0.84021	6.904000	0.75530	7.609000	0.61840	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0:1.0:0.0:0.0	19.542	0.95273	674	0.60593	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1481.98	36	chr10	115847889	.	C	G	1481.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.352;DP=855;ExcessHet=0.0000;FS=0.621;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=-1.593e+00;SOR=0.608	GT:AD:DP:GQ:PL	0/1:87,62:149:99:1496,0,2209	20	0	1	0
chr10	122643189	122643189	A	G	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon40:c.A5149G:p.R1717G	.	.	414	1105	3	0	0	3	0.00135563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.119	B	0.056	B	0.491	U	1.000	N	0.55	N	-1.65	D	-0.854	T	0.337	T	0.241	1.864	12.19	1.45	-0.006	2.127	14.013	0.225	0.0851980980757	.	.	8.28e-05	0	0	0	0	2.997e-05	0	0.0005	6.47e-05	10	154602	rs767959534	4.926e-05	4.925e-05	3.676e-05	6.189e-05	0.0009	3.993e-05	3.669e-05	0.0003	0.0003	0	0	0	0	0	0.0009	1.619e-05	0.0002	0.0004	1.971e-05	1.969e-05	0	4.03e-05	0.0004	5.24e-06	2.45e-06	7.315e-05	3.038e-05	0	0	0	0	0	0	0.0034	0	0	0.0004	0.333	0.17296	T	0.209	0.31326	T	0.07	0.24919	B	0.033	0.26147	B	0.490993	0.12058	U	0.697398	0.999899	0.19781	N	1.495	0.37439	L	-1.65	0.82625	D	-0.31	0.15578	N	0.175	0.20262	-0.8538	0.51703	T	0.337	0.70330	T	10	0.12774542	0.24295	T	0.085198	0.74484	D	0.225	0.52323	0.665	0.80300	0.807612860159	0.80581	0.4991312956039856	0.49834	0.313427869547	0.33634	0.292685866356	0.09314	T	0.209916	0.57027	T	-0.283463	0.10303	T	-0.316991	0.42904	T	0.068766952039065	0.08477	T	0.904909	0.66542	D	0.0979802	0.23104	0.08888212	0.20752	0.0979802	0.23104	0.08888212	0.20751	-7.805	0.59734	D	.	.	0.241	0.54747	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.481010	0.19065	14.07	0.94491421671370268	0.24956	0.78344	0.38638	D	AEFDBI	0.451962	0.50572	N	-0.770947782707542	0.14071	0.69801	-0.734800196972176	0.16096	0.8498822	0.838254570472115	0.24819	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.28	1.45	0.21708	2.359000	0.43797	.	.	0.756000	0.94297	0.948000	0.32982	0.864000	0.27519	0.021000	0.11733	0.4959:0.5041:0.0:0.0	14.013	0.64023	575	0.70088	.;.;.;.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3706.98	38	chr10	122643189	.	A	G	3706.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.376e+00;DP=1133;ExcessHet=0.0000;FS=0.855;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=0.590;SOR=0.635	GT:AD:DP:GQ:PL	0/1:152,162:314:99:3721,0,3786	20	0	1	0
chr10	124021238	124021238	G	-	exonic	CHST15	.	frameshift deletion	CHST15:NM_001270765:exon6:c.1365delC:p.R456Vfs*28	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:3,0,139,3:145:99:.:.:5883,5901,6001,321,413,0,5796,5892,293,5893	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	2/2:3,0,139,3:145:99:.:.:5883,5901,6001,321,413,0,5796,5892,293,5893	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	0/1:70,39:109:99:.:.:1407,0,2778	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	0/1:96,33:129:99:908,0,3200	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	0/1:111,25:136:99:391,0,2871	2	0	13	6
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|1:165,12:177:7:0|1:124994489_T_G:7,0,6852:124994489	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|1:176,16:192:99:0|1:124994489_T_G:142,0,7310:124994489	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|1:182,16:198:99:0|1:124994489_T_G:124,0,7447:124994489	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|1:182,21:203:33:0|1:124994523_G_A:33,0,7294:124994523	0	0	21	0
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|1:188,29:217:99:0|1:124994577_C_A:470,0,7706:124994577	0	0	21	0
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|1:142,20:162:99:0|1:125039033_T_A:412,0,5846:125039033	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|1:142,20:162:99:0|1:125039033_T_A:412,0,5846:125039033	9	0	12	0
chr11	1016833	1016833	G	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C5968A:p.Q1990K,	.	.	281	1179	59	3	0	65	0.0268262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.0	B	0.0	B	.	.	1.000	N	-0.62	N	2.13	T	-0.975	T	0.017	T	0.066	-1.580	0.014	-4.45	-0.632	-2.138	6.937	0.007	.	.	.	0.0066	0.0054	0.0137	0.0052	0.0059	0.0068	0.0066	0.0025	0.0052134	806	154602	rs71472140	3.434e-06	0.0017	1.367e-06	5.521e-06	2.519e-05	1.01e-06	7.3e-07	3e-07	1.1e-07	0	0	0	2.519e-05	1.879e-05	0	1.807e-06	1.661e-05	0	2.069e-05	0.0071	1.351e-05	2.818e-05	8.309e-05	5.5e-06	2.53e-06	2.202e-05	1.11e-05	8.309e-05	0	0	0	0	0	0	0	0	0	0.044	0.41096	D	0.919	0.02882	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.06	0.08197	N	2.13	0.19588	T	-0.27	0.11366	N	0.04	0.01347	-0.9752	0.36082	T	0.017	0.07187	T	9	0.0052206814	0.00114	T	.	.	.	0.007	0.00512	.	.	0.144782658237	0.14088	0.13176804686492347	0.13101	0.15740334082	0.17771	0.169174268842	0.00029	T	0.02147	0.16712	T	-0.367096	0.03743	T	-0.765084	0.02933	T	0.0911382230154741	0.11353	T	.	.	.	0.054971293	0.10621	0.04779059	0.06962	0.054971293	0.10621	0.04779059	0.06962	-4.265	0.27683	T	.	.	0.066	0.02228	B	.	.	-0.805330	0.01096	0.049	0.58088108874946298	0.05914	0.01441	0.04838	N	AEFDGBCI	0.026879	0.02097	N	-1.70474050646289	0.00825	0.0356758	-1.75322499355266	0.00921	0.04121295	0.999999157703228	0.74766	0.716459	0.82106	0	0.639134	0.57113	0	0.73237	0.93354	0	0.264475	0.05362	3	.	.	2.97	-4.45	0.03298	-1.290000	0.02886	-8.924000	0.00893	-0.874000	0.02518	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.3598:0.3829:0.2573	6.937	0.23652	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	333.98	915	chr11	1016833	.	G	T	333.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.460e-01;DP=20144;ExcessHet=0.0000;FS=2.416;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.26;MQRankSum=-9.559e+00;QD=0.32;ReadPosRankSum=0.598;SOR=1.058	GT:AD:DP:GQ:PL	0/1:959,77:1036:99:348,0,39630	20	0	1	0
chr11	1016991	1016991	T	0	exonic	MUC6	.	.	.	.	.	358	255	795	7	107	916	0.613343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	62335.98	527	chr11	1016991	.	T	*,G	62335.98	.	AC=2,17;AF=0.048,0.405;AN=42;BaseQRankSum=3.01;DP=12391;ExcessHet=36.0830;FS=1.214;InbreedingCoeff=-0.8261;MLEAC=2,17;MLEAF=0.048,0.405;MQ=54.84;MQRankSum=-1.661e+01;QD=5.45;ReadPosRankSum=-4.007e+00;SOR=0.802	GT:AD:DP:GQ:PL	0/2:419,47,135:601:99:4271,3590,21112,0,15289,16868	2	0	2	0
chr11	1017464	1017464	T	0	exonic	MUC6	.	.	.	.	.	358	217	98	1	848	948	0.187266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	62761.5	562	chr11	1017464	.	T	G,C,*	62761.5	.	AC=4,11,5;AF=0.100,0.275,0.125;AN=40;BaseQRankSum=3.67;DP=13460;ExcessHet=43.6797;FS=0.579;InbreedingCoeff=-0.9535;MLEAC=4,11,5;MLEAF=0.100,0.275,0.125;MQ=56.28;MQRankSum=-1.476e+01;QD=5.03;ReadPosRankSum=3.18;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:373,52,92,0:520:99:.:.:2720,1650,17167,0,13421,15331,3846,17329,15618,19525	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	0/1:385,87,48,0:520:99:.:.:2501,0,15900,1642,14157,17662,3656,16165,17807,19819	0	0	13	0
chr11	1017467	1017467	G	0	exonic	MUC6	.	.	.	.	.	336	797	216	0	173	389	0.119337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2402.58	548	chr11	1017467	.	G	A,*	2402.58	.	AC=6,3;AF=0.200,0.100;AN=30;BaseQRankSum=2.71;DP=13253;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.4000;MLEAC=7,4;MLEAF=0.233,0.133;MQ=56.65;MQRankSum=-5.514e+00;QD=0.40;ReadPosRankSum=0.240;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:480,41,0:521:99:.:.:272,0,20021,1717,20145,21862	6	0	6	6
chr11	1017470	1017470	G	0	exonic	MUC6	.	.	.	.	.	0	29	117	0	80	197	0.668571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	88683.23	557	chr11	1017470	.	G	T,*	88683.23	.	AC=15,5;AF=0.375,0.125;AN=40;BaseQRankSum=0.038;DP=13562;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9535;MLEAC=15,5;MLEAF=0.375,0.125;MQ=56.60;MQRankSum=-1.458e+01;QD=7.02;ReadPosRankSum=3.68;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:377,140,0:517:99:0|1:1017440_C_T:4744,0,15409,5879,15830,21709:1017440	0	0	15	1
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|1:464,52,0:516:99:0|1:1017458_A_G:787,0,19327,2183,19483,21667:1017458	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|1:390,136,0:526:99:0|1:1017440_C_T:4537,0,15967,5711,16376,22087:1017440	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	0/1:481,35,0:528:19:.:.:19,0,20109,1469,20176,21633	3	0	9	6
chr11	1017489	1017489	G	0	exonic	MUC6	.	.	.	.	.	344	749	262	0	167	429	0.148864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	7292.49	575	chr11	1017489	.	G	A,*	7292.49	.	AC=12,5;AF=0.300,0.125;AN=40;BaseQRankSum=5.22;DP=13481;ExcessHet=25.1139;FS=0.874;InbreedingCoeff=-0.6876;MLEAC=12,5;MLEAF=0.300,0.125;MQ=56.46;MQRankSum=-8.490e+00;QD=0.71;ReadPosRankSum=0.688;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:499,37,0:536:52:.:.:52,0,20842,1554,20953,22507	3	0	12	1
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	0/1:493,46,0:539:99:.:.:448,0,20516,1932,20655,22586	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	0/2:387,16,69,45:517:99:.:.:1630,2396,17944,0,15249,16528,947,16251,14834,17728	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	0/1:408,107,0:515:99:.:.:2826,0,15960,4053,16282,20336	0	0	15	2
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	0/1:142,47,0:189:99:.:.:1546,0,5821,1974,5963,7936	5	0	15	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L,	.	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	N	0	N	2.32	T	-1.013	T	0.014	T	0.033	-1.839	0.009	-4.82	-3.424	-4.810	0.642	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	5589.96	253	chr11	1018290	.	G	A,C	5589.96	.	AC=10,5;AF=0.238,0.119;AN=42;BaseQRankSum=4.42;DP=5021;ExcessHet=17.4423;FS=18.255;InbreedingCoeff=-0.5555;MLEAC=10,5;MLEAF=0.238,0.119;MQ=55.33;MQRankSum=-6.736e+00;QD=1.48;ReadPosRankSum=0.802;SOR=2.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:225,22,0:247:99:0|1:1018256_T_G:246,0,9381,924,9448,10371:1018256	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	1/1:4,160,0:164:99:.:.:6168,409,0,6306,491,6906	0	19	1	0
chr11	1095999	1095999	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	158783.66	219	chr11	1095999	.	A	T,C,*	158783.66	.	AC=40,1,1;AF=0.952,0.024,0.024;AN=42;BaseQRankSum=0.638;DP=4365;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,1,1;MLEAF=0.952,0.024,0.024;MQ=58.57;MQRankSum=11.29;QD=24.86;ReadPosRankSum=-1.695e+00;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,160,0,0:160:99:.:.:6220,482,0,6220,482,6220,6220,482,6220,6220	0	19	0	0
chr11	1096664	1096664	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	61688.6	93	chr11	1096664	.	T	C,*	61688.6	.	AC=40,2;AF=0.952,0.048;AN=42;DP=2147;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=53.76;QD=30.39;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,102,0:105:99:.:.:3071,305,0,3290,318,3879	0	19	0	0
chr11	1097404	1097404	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	725	773	23	0	1	24	0.014659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0220	0.0089	0	0.0172	0.0135	0.0152	0.0312	0.0510	0.0002458	38	154602	rs1263995397	0.0102	0.0083	0.0109	0.0095	0.0188	0.0098	0.0096	0.0123	0.0121	0.0056	0.0066	0.0112	0.0034	0.0078	0.0188	0.0129	0.0119	0.0030	0.0079	0.0098	0.0081	0.0076	0.0102	0.0071	0.0068	0.0089	0.0084	0.0045	0.0112	0.0069	0.0055	0.0088	0.0089	0	0.0102	0.0089	0.0087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1875	3071.46	75	chr11	1097404	.	C	T	3071.46	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-2.806e+00;DP=3012;ExcessHet=0.3300;FS=2.589;InbreedingCoeff=-0.2923;MLEAC=5;MLEAF=0.313;MQ=33.16;MQRankSum=-1.158e+00;QD=7.80;ReadPosRankSum=1.91;SOR=0.787	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,31:150:99:0|1:1097404_C_T:891,0,4619:1097404	5	0	3	13
chr11	1097430	1097430	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	679	826	5	0	12	17	0.0030175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.991	D	0.326	B	.	.	1.000	N	.	.	2.46	T	-1.026	T	0.028	T	0.154	-0.334	2.416	0.741	0.097	0.436	5.958	0.055	0.0124052184077	.	.	5.906e-05	0.0007	0	0	0	0	0	0	1.29e-05	2	154602	rs1205731830	0.0007	0.0014	0.0007	0.0007	0.0022	0.0006	0.0006	0.0015	0.0012	0.0022	0.0009	0.0010	0.0017	0.0006	0.0011	0.0005	0.0007	0.0005	0.0022	0.0030	0.0023	0.0020	0.0062	0.0019	0.0018	0.0032	0.0024	0.0023	0	0.0024	0.0006	0.0062	0.0016	0	0.0020	0.0043	0.0030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1115.46	75	chr11	1097430	.	C	A,*	1115.46	.	AC=1,1;AF=0.050,0.050;AN=20;BaseQRankSum=-2.691e+00;DP=3750;ExcessHet=0.1072;FS=3.805;InbreedingCoeff=-0.2174;MLEAC=2,2;MLEAF=0.100,0.100;MQ=36.76;MQRankSum=-1.916e+00;QD=3.12;ReadPosRankSum=4.32;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,38,0:177:99:0|1:1097404_C_T:1124,0,5629,1542,5743,7286:1097404	8	0	1	11
chr11	1097430	1097430	C	0	exonic	MUC2	.	.	.	.	.	679	826	5	0	12	17	0.0030175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1115.46	75	chr11	1097430	.	C	A,*	1115.46	.	AC=1,1;AF=0.050,0.050;AN=20;BaseQRankSum=-2.691e+00;DP=3750;ExcessHet=0.1072;FS=3.805;InbreedingCoeff=-0.2174;MLEAC=2,2;MLEAF=0.100,0.100;MQ=36.76;MQRankSum=-1.916e+00;QD=3.12;ReadPosRankSum=4.32;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,38,0:177:99:0|1:1097404_C_T:1124,0,5629,1542,5743,7286:1097404	8	0	1	11
chr11	1097434	1097434	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	709	787	15	0	11	26	0.0094399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0049	0	0	0	0	0	0	4.53e-05	7	154602	rs1324794777	0.0039	0.0035	0.0042	0.0037	0.0047	0.0037	0.0037	0.0044	0.0043	0.0047	0.0026	0.0041	0.0019	0.0034	0.0031	0.0047	0.0045	0.0012	0.0045	0.0056	0.0046	0.0044	0.0055	0.0040	0.0039	0.0047	0.0044	0.0030	0.0041	0.0046	0.0015	0.0055	0.0046	0	0.0055	0.0088	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	3353.75	75	chr11	1097434	.	C	T	3353.75	.	AC=3;AF=0.250;AN=12;BaseQRankSum=-4.019e+00;DP=3924;ExcessHet=0.3300;FS=0.539;InbreedingCoeff=-0.3333;MLEAC=6;MLEAF=0.500;MQ=36.00;MQRankSum=-2.053e+00;QD=7.54;ReadPosRankSum=1.89;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,38:178:99:0|1:1097404_C_T:1121,0,5642:1097404	3	0	3	15
chr11	1097793	1097793	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.912e-05	8.756e-05	5.311e-05	4.549e-05	0.0009	3.565e-05	3.154e-05	0.0005	0.0004	0.0009	3.178e-05	0	0.0002	3.048e-05	0	1.256e-05	5.742e-05	7.732e-05	3.671e-05	5.931e-05	3.718e-05	3.626e-05	0.0002	6.09e-06	2.28e-06	2.916e-05	1.214e-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	0.02381	203.98	128	chr11	1097793	.	C	T	203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.90;DP=2234;ExcessHet=0.0000;FS=1.413;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=45.92;MQRankSum=-1.180e-01;QD=1.45;ReadPosRankSum=-4.580e-01;SOR=1.158	GT:AD:DP:GQ:PL	0/1:126,15:141:99:218,0,2102	20	0	1	0
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	99733.73	157	chr11	1099370	.	G	A,*	99733.73	.	AC=36,6;AF=0.857,0.143;AN=42;BaseQRankSum=2.61;DP=6688;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=36,6;MLEAF=0.857,0.143;MQ=54.00;MQRankSum=1.34;QD=23.82;ReadPosRankSum=0.267;SOR=0.336	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,147,0:147:99:.:.:4269,439,0,4307,445,4645	0	15	0	0
chr11	1630194	1630223	CTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	-	exonic	KRTAP5-5	.	nonframeshift deletion	KRTAP5-5:NM_001001480:exon1:c.354_383del:p.C142_Y218delinsYGCSQSSCCKPCCCSSGCGSSCCQSSCCKPYCCQSSCCKPYCCQSSCCKPCSCFSGCGSSCCQSSCYKPCCCQSSCCVPVCCQCKI*,	.	.	452	1018	30	9	13	61	0.0230326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2243.01	34	chr11	1630163	.	CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGGCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG,C	2243.01	.	AC=6,2;AF=0.150,0.050;AN=40;BaseQRankSum=0.830;DP=1501;ExcessHet=0.0002;FS=4.867;InbreedingCoeff=0.6313;MLEAC=6,2;MLEAF=0.150,0.050;MQ=59.40;MQRankSum=-1.210e+00;QD=30.31;ReadPosRankSum=0.389;SOR=0.228	GT:AD:DP:GQ:PL	1/1:0,2,0:2:23:125,23,0,125,23,125	15	3	0	1
chr11	1630164	1630223	CTGTGGCTCCTGTGGGGGGTCCAAGGGGGGCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	-	exonic	KRTAP5-5	.	nonframeshift deletion	KRTAP5-5:NM_001001480:exon1:c.324_383del:p.C132_Y218delinsYGCSQSSCCKPCCCSSGCGSSCCQSSCCKPYCCQSSCCKPYCCQSSCCKPCSCFSGCGSSCCQSSCYKPCCCQSSCCVPVCCQCKI*,	.	.	452	1018	30	9	13	61	0.0230326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.621e-06	0	0	0	0	1.564e-05	0	0	.	.	.	.	0.0025	0.0025	0.0023	0.0027	0.0078	0.0024	0.0024	0.0070	0.0067	0.0078	0.0033	0.0093	0.0001	0.0010	0.0059	0.0020	0.0044	0.0048	0.0009	0.0043	0.0009	0.0008	0.0016	0.0007	0.0006	0.0012	0.0010	0.0016	0	0.0003	0.0020	0	0	0.0085	0.0006	0.0030	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2243.01	34	chr11	1630163	.	CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGGCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG,C	2243.01	.	AC=6,2;AF=0.150,0.050;AN=40;BaseQRankSum=0.830;DP=1501;ExcessHet=0.0002;FS=4.867;InbreedingCoeff=0.6313;MLEAC=6,2;MLEAF=0.150,0.050;MQ=59.40;MQRankSum=-1.210e+00;QD=30.31;ReadPosRankSum=0.389;SOR=0.228	GT:AD:DP:GQ:PL	1/1:0,2,0:2:23:125,23,0,125,23,125	15	3	0	1
chr11	1630364	1630368	AGTCC	0	exonic	KRTAP5-5	.	.	.	.	.	439	687	51	4	341	400	0.0411724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	5209.38	39	chr11	1630364	.	AGTCC	*,A	5209.38	.	AC=9,2;AF=0.214,0.048;AN=42;BaseQRankSum=0.573;DP=3134;ExcessHet=2.2868;FS=0.532;InbreedingCoeff=-0.1085;MLEAC=9,2;MLEAF=0.214,0.048;MQ=57.01;MQRankSum=-2.192e+00;QD=2.91;ReadPosRankSum=-1.810e-01;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:86,0,72:158:99:0|1:1630325_C_A:2534,2793,6367,0,3575,3358:1630325	11	0	8	0
chr11	1630369	1630395	AGCTGCTGTAAGCCTTACTGCTGCCAG	0	exonic	KRTAP5-5	.	.	.	.	.	437	689	51	4	341	400	0.0410578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	5142.38	39	chr11	1630369	.	AGCTGCTGTAAGCCTTACTGCTGCCAG	*,A	5142.38	.	AC=9,2;AF=0.214,0.048;AN=42;BaseQRankSum=1.23;DP=3144;ExcessHet=2.2868;FS=0.532;InbreedingCoeff=-0.1085;MLEAC=9,2;MLEAF=0.214,0.048;MQ=57.16;MQRankSum=-2.192e+00;QD=2.88;ReadPosRankSum=-3.820e-01;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:86,0,72:158:99:0|1:1630325_C_A:2534,2793,6359,0,3566,3350:1630325	11	0	8	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	48108.27	39	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	T,*	48108.27	.	AC=16,11;AF=0.381,0.262;AN=42;BaseQRankSum=-2.940e-01;DP=3975;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=16,11;MLEAF=0.381,0.262;MQ=58.70;MQRankSum=-5.308e+00;QD=15.77;ReadPosRankSum=0.914;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,60,72:132:99:.:.:5049,2778,3101,2333,0,3110	3	3	5	0
chr11	4915284	4915284	C	T	exonic	OR51G2	.	nonsynonymous SNV	OR51G2:NM_001005238:exon2:c.G380A:p.R127H,	.	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	3.5	M	-1.1	T	0.653	D	0.709	D	0.313	4.543	24.5	4.67	1.596	5.728	13.519	0.526	0.0621068750738	.	.	8.279e-05	0	0.0003	0.0002	0	4.511e-05	0	0.0001	6.47e-05	10	154602	rs778896766	8.483e-05	8.551e-05	8.169e-05	8.802e-05	0.0003	7.209e-05	6.797e-05	7.453e-05	6.914e-05	2.987e-05	0.0001	0	0.0001	0	0.0003	8.903e-05	0.0001	3.478e-05	4.605e-05	4.598e-05	5.142e-05	4.042e-05	0.0002	2.112e-05	1.528e-05	1.923e-05	1.033e-05	7.251e-05	0	0	0	0.0002	0	0	2.94e-05	0	0.0002	0.005	0.63226	D	0.009	0.66756	D	1.0	0.90584	D	0.998	0.88582	D	0.000090	0.51296	D	0.000000	1	0.81001	D	2.505	0.72935	M	-1.1	0.77336	T	-4.55	0.78553	D	0.724	0.72567	0.653	0.92584	D	0.709	0.90013	D	10	0.4689316	0.59742	T	0.062107	0.68546	D	0.526	0.79947	0.258	0.20002	0.892745899934	0.89168	0.7108784534621524	0.71029	0.0544899978002	0.06029	0.300095051527	0.10415	T	0.10247	0.41022	T	-0.183497	0.23217	T	-0.209208	0.53771	T	0.678558111190796	0.39722	D	0.758424	0.38228	T	0.71685696	0.78987	0.5779219	0.75542	0.71685696	0.78989	0.5779219	0.75543	-7.049	0.54390	T	.	.	0.159	0.41843	B	.;.	.;.	4.931606	0.81311	27.5	0.99937895182159198	0.99698	0.98680	0.85501	D	AEFBI	0.757591	0.69649	D	0.841049196706421	0.88590	9.636752	0.752326900444266	0.86328	8.854798	0.819324380811777	0.24495	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	4.67	0.58089	6.130000	0.71403	.	.	0.599000	0.40250	1.000000	0.71638	0.001000	0.17328	0.999000	0.91618	0.0:0.9247:0.0:0.0753	13.519	0.61016	748	0.52143	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2783.98	33	chr11	4915284	.	C	T	2783.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.382;DP=904;ExcessHet=0.0000;FS=4.759;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=-1.281e+00;SOR=1.002	GT:AD:DP:GQ:PL	0/1:100,109:209:99:2798,0,2427	20	0	1	0
chr11	5696414	5696414	C	A	exonic	TRIM22	.	nonsynonymous SNV	TRIM22:NM_001199573:exon2:c.C182A:p.T61N	.	.	421	1086	15	0	0	15	0.00685871	.	.	3210318	TRIM22-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.024	B	0.034	B	.	.	1.000	N	0.705	N	-1.89	D	-0.770	T	0.310	T	0.144	1.294	10.23	-9.15	-3.545	-5.870	5.424	0.236	0.0434691349519	0.0004	0.000199681	0.0007	9.96e-05	0.0007	0	0	0.0011	0.0055	0.0001	0.000705	109	154602	rs192306924	0.0007	0.0007	0.0006	0.0007	0.0180	0.0006	0.0006	0.0152	0.0142	0.0006	0.0012	0.0052	5.038e-05	1.872e-05	0.0180	0.0005	0.0016	0.0003	0.0007	0.0007	0.0007	0.0008	0.0017	0.0006	0.0006	0.0012	0.0010	0.0003	0	0.0017	0.0046	0	0.0002	0.0136	0.0008	0.0014	0	0.004	0.68238	D	0.539	0.11586	T	0.013	0.16609	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	0.975	0.24501	L	-1.89	0.84557	D	-2.42	0.61580	N	0.214	0.23884	-0.7696	0.56879	T	0.310	0.68076	T	9	0.0062273443	0.00140	T	0.043469	0.60997	D	0.236	0.53931	.	.	0.352262096564	0.34836	0.06989213121162821	0.06927	0.0609254369413	0.06777	0.28359234333	0.07998	T	0.017179	0.31564	T	-0.39732	0.02411	T	-0.406878	0.32584	T	0.0243631973118041	0.01191	T	0.279972	0.05521	T	0.07012583	0.15421	0.09787081	0.23313	0.07012583	0.15421	0.09787081	0.23313	-6.518	0.50425	T	.	.	0.097	0.22024	B	.;.;.;.	.;.;.;.	-0.940067	0.00860	0.030	0.77576614775344133	0.11934	0.02309	0.06629	N	AEFDGBCI	0.033248	0.03905	N	-2.04436975006276	0.00170	0.00726481	-2.1554344804442	0.00141	0.006192413	0.999999999986828	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.57	-9.15	0.00595	-6.443000	0.00081	.	.	-1.954000	0.00481	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1296:0.4111:0.3325:0.1267	5.424	0.15712	873	0.30802	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2099.98	39	chr11	5696414	.	C	A	2099.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=878;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.91;ReadPosRankSum=-1.390e+00;SOR=0.713	GT:AD:DP:GQ:PL	0/1:72,79:151:99:2114,0,1732	20	0	1	0
chr11	6200107	6200107	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C884G:p.P295R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.977	D	0.689	P	0.034	N	0.570	D	4.255	H	-0.08	T	0.418	D	0.499	T	0.685	1.906	12.33	3.23	0.271	3.583	13.827	0.400	0.0539634185351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0021	0.0008	0.0006	0.0008	0.0006	0.0006	0.0008	0.0008	0.0007	2.238e-05	0.0002	0.0002	1.93e-05	0.0005	0.0008	0.0004	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.977	0.58535	D	0.689	0.53736	P	0.034271	0.24791	N	0.198413	0.569916	0.32285	D	5.07	0.99906	H	-0.08	0.63911	T	-8.12	0.96707	D	0.8	0.79599	0.418	0.89363	D	0.499	0.81057	T	10	0.9466181	0.93989	D	0.053963	0.65674	D	0.400	0.71401	0.737	0.86978	0.756562400578	0.75435	0.47455396514490583	0.47374	0.062343724922	0.06938	0.315678536892	0.12767	T	0.146888	0.48470	T	0.167539	0.70898	D	0.00288233	0.70523	D	0.995080590248108	0.86803	D	0.934707	0.75503	D	0.9610508	0.97386	0.9567188	0.98791	0.9610508	0.97386	0.9567188	0.98791	-12.124	0.85450	D	.	.	0.505	0.64808	A	.	.	2.707812	0.35383	19.88	0.97301537367121227	0.33280	0.95966	0.66930	D	AEFBI	0.511260	0.53997	D	0.208503100090119	0.51610	3.340933	0.082639564659092	0.43676	2.664457	0.99944430790802	0.39736	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	3.23	0.36150	4.053000	0.57139	3.151000	0.36525	-0.172000	0.11096	0.999000	0.42656	0.986000	0.30841	0.667000	0.33166	0.0:0.8582:0.0:0.1418	13.827	0.62847	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1980.01	154	chr11	6200107	.	C	G	1980.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.829e+00;DP=2478;ExcessHet=4.7172;FS=120.687;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.23;ReadPosRankSum=1.61;SOR=11.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,37:215:99:0|1:6200107_C_G:308,0,6829:6200107	12	0	9	0
chr11	6200109	6200109	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C886G:p.L296V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.911	P	0.158	B	0.004	N	0.906	D	1.675	L	1.07	T	-0.977	T	0.081	T	0.099	1.942	12.45	5.11	2.518	-0.072	13.517	0.088	0.0114858743224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.13879	T	0.419	0.14158	T	0.911	0.50336	P	0.158	0.34617	B	0.003626	0.34687	N	0.000000	0.905535	0.36277	D	0.41	0.12415	N	1.07	0.39586	T	0.43	0.03297	N	0.052	0.02366	-0.9765	0.35794	T	0.081	0.32090	T	10	0.1060805	0.19639	T	0.011486	0.29167	T	0.088	0.25558	0.397	0.42426	0.207176502487	0.20327	0.04900367529630378	0.04843	0.0233216950399	0.02366	0.204009205103	0.00582	T	5.16E-4	0.00194	T	-0.253739	0.13642	T	-0.602255	0.12622	T	0.502938449382782	0.32737	D	0.70483	0.31518	T	0.12892555	0.30127	0.11809379	0.28508	0.12892555	0.30127	0.11809379	0.28508	-3.839	0.21388	T	.	.	0.096	0.15385	B	.	.	2.102681	0.26757	17.23	0.99468787433388461	0.66207	0.36052	0.25444	N	AEFBI	0.406343	0.47887	N	-0.0291148856449301	0.40540	2.409298	-0.00557001676917808	0.39462	2.340232	0.999715313907442	0.42101	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	5.11	0.69188	-0.358000	0.07692	0.729000	0.21072	0.599000	0.40250	0.000000	0.06391	0.185000	0.23452	0.633000	0.32236	0.1663:0.8337:0.0:0.0	13.517	0.61000	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	2170.01	155	chr11	6200109	.	C	G	2170.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.569e+00;DP=2452;ExcessHet=4.7172;FS=131.986;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.32;ReadPosRankSum=1.54;SOR=11.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,37:215:99:0|1:6200107_C_G:308,0,6829:6200107	12	0	9	0
chr11	6390705	6390711	TGCTGGC	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,68,40,0,0,0:108:99:.:.:3392,1664,1883,1851,0,2464,3547,1906,2339,4099,3547,1906,2339,4099,4099,3547,1906,2339,4099,4099,4099	0	5	0	0
chr11	6390705	6390705	-	GGC	exonic	SMPD1	.	nonframeshift insertion	SMPD1:NM_000543:exon1:c.107_108insGGC:p.V36_L37insA	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	66	5	343	388	720	1839	0.991143	.	.	526543	not_specified|not_provided|Niemann-Pick_disease,_type_B|Niemann-Pick_disease,_type_A	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293|MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0063	0.0019	0.0048	0.0047	0.0086	0.0021	0.0111	0.0252	0.0046895	725	154602	rs775568984	0.0048	0.0048	0.0041	0.0055	0.0294	0.0047	0.0046	0.0284	0.0280	0.0030	0.0070	0.0053	0.0069	0.0151	0.0054	0.0022	0.0059	0.0294	0.0053	0.0052	0.0042	0.0063	0.0345	0.0050	0.0048	0.0301	0.0284	0.0029	0	0.0061	0.0041	0.0086	0.0179	0.0221	0.0024	0.0015	0.0345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,68,40,0,0,0:108:99:.:.:3392,1664,1883,1851,0,2464,3547,1906,2339,4099,3547,1906,2339,4099,4099,3547,1906,2339,4099,4099,4099	0	5	0	0
chr11	6564079	6564079	G	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon31:c.G10239C:p.K3413N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.922	P	0.583	P	.	.	1.000	N	0.895	L	-0.82	T	-0.736	T	0.305	T	0.179	1.460	10.83	4.27	2.202	2.147	12.045	0.246	0.037918526582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.17940	T	0.0	0.92824	D	0.922	0.51142	P	0.583	0.50264	P	.	.	.	.	0.966659	0.25884	N	2.015	0.55033	M	-0.82	0.74053	T	-1.07	0.27876	N	0.325	0.41162	-0.7361	0.58653	T	0.305	0.67547	T	9	0.36649692	0.53143	T	0.037919	0.57909	D	0.246	0.55340	0.518	0.61915	0.707650254962	0.70510	0.38322019556356207	0.38237	0.532401565123	0.50703	0.379581391811	0.22198	T	0.064	0.32320	T	-0.08036	0.39657	T	-0.353208	0.38837	T	0.574073241482542	0.35391	D	0.510949	0.16331	T	0.27499932	0.50564	0.25137228	0.50747	0.27499932	0.50564	0.25137228	0.50746	-4.843	0.35088	T	.	.	0.412	0.60243	A	.;.	.;.	2.357286	0.30230	18.37	0.98888292569358716	0.47948	0.86877	0.46256	D	AEFDBI	0.133163	0.25273	N	0.0924144595753655	0.46109	2.856479	0.0938492095698804	0.44239	2.709482	0.999997307219467	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.27	4.27	0.50009	2.194000	0.42301	0.078000	0.14353	0.618000	0.50648	0.991000	0.37257	0.003000	0.18671	0.944000	0.48669	0.0:0.0:1.0:0.0	12.045	0.52771	425	0.81160	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2941	723.45	41	chr11	6564079	.	G	C	723.45	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-2.656e+00;DP=1725;ExcessHet=6.1002;FS=193.467;InbreedingCoeff=-0.4201;MLEAC=12;MLEAF=0.353;MQ=60.00;MQRankSum=0.00;QD=0.93;ReadPosRankSum=1.74;SOR=11.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,25:101:12:.:.:12,0,1156	7	0	10	4
chr11	6892142	6892142	T	C	exonic	OR2D2	.	nonsynonymous SNV	OR2D2:NM_003700:exon1:c.A359G:p.Y120C,	.	.	431	1088	2	0	1	3	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.134	B	0.093	B	0.009	N	0.854	N	2.815	M	7.03	T	-1.068	T	0.002	T	0.325	2.197	13.30	2.9	0.535	1.065	8.409	0.130	0.00605135480922	.	.	1.649e-05	0	8.72e-05	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs111868178	2.874e-05	2.873e-05	2.314e-05	3.438e-05	8.966e-05	2.152e-05	1.908e-05	2.376e-05	1.942e-05	8.966e-05	0	0	2.519e-05	1.872e-05	0	3.058e-05	4.968e-05	0	3.944e-05	3.938e-05	5.144e-05	2.689e-05	7.227e-05	1.716e-05	1.13e-05	1.916e-05	1.031e-05	7.227e-05	0	0	0	0	0	0	4.413e-05	0	0	0.01	0.56456	D	0.014	0.62352	D	0.134	0.27266	B	0.093	0.30104	B	0.009463	0.30346	N	0.154928	0.853905	0.28456	N	3.265	0.90016	M	7.03	0.00453	T	-8.22	0.96854	D	0.156	0.16168	-1.0682	0.09813	T	0.002	0.00707	T	10	0.2600271	0.43447	T	0.006051	0.15816	T	0.130	0.35528	0.326	0.30873	0.56524285216	0.56187	0.36101034003631094	0.36015	0.0219589980584	0.02200	0.296510279179	0.09882	T	0.008184	0.07532	T	-0.27951	0.10720	T	-0.457745	0.26847	T	0.306865969734727	0.25286	T	0.59464	0.22023	T	0.44259176	0.63569	0.43089992	0.66725	0.44259176	0.63570	0.43089992	0.66725	-6.946	0.53639	T	.	.	0.117	0.23814	B	.	.	2.642124	0.34385	19.61	0.99077777158689462	0.51882	0.92064	0.54865	D	AEFBI	0.317323	0.42135	N	-0.0451652221761346	0.39818	2.354408	0.010355112252671	0.40194	2.394975	3.44659258082262E-4	0.06626	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.23	2.9	0.32809	2.248000	0.42812	-0.251000	0.10506	-0.130000	0.13190	1.000000	0.71638	0.001000	0.17328	0.994000	0.71098	0.0:0.1627:0.0:0.8373	8.409	0.31791	502	0.75873	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2487.98	44	chr11	6892142	.	T	C	2487.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=1017;ExcessHet=0.0000;FS=5.153;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=0.794;SOR=0.429	GT:AD:DP:GQ:PL	0/1:99,91:190:99:2502,0,2617	20	0	1	0
chr11	6955753	6955753	G	A	exonic	ZNF215	.	nonsynonymous SNV	ZNF215:NM_001354858:exon5:c.G62A:p.S21N	.	.	431	1072	18	1	0	20	0.00924214	.	.	724686	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.6	T	0.005	B	0.004	B	0.105	N	1.000	N	0.55	N	5.98	T	-0.930	T	0.006	T	0.017	0.552	6.987	-3.19	-0.731	1.119	6.170	0.091	0.00335947118768	0.0048	0.00259585	0.0051	0.0007	0.0008	0	0.0014	0.0068	0.0068	0.0090	0.005084	786	154602	rs117380100	0.0071	0.0071	0.0069	0.0073	0.0085	0.0070	0.0069	0.0080	0.0078	0.0011	0.0019	0.0029	5.042e-05	0.0019	0.0026	0.0080	0.0063	0.0085	0.0048	0.0048	0.0052	0.0043	0.0081	0.0045	0.0044	0.0076	0.0073	0.0012	0	0.0039	0.0026	0.0002	0.0019	0	0.0081	0.0019	0.0056	1.0	0.14996	T	0.469	0.22627	T	0.002	0.09854	B	0.001	0.04355	B	0.104610	0.19695	N	0.433192	1	0.08975	N	1.04	0.26193	L	3.43	0.05440	T	0.11	0.16598	N	0.031	0.03069	-0.9299	0.44153	T	0.006	0.02055	T	10	0.00449273	0.00092	T	0.003359	0.07512	T	0.091	0.26358	.	.	0.16115917748	0.15686	0.043645999254215855	0.04309	0.00603255070082	0.00527	0.231196716428	0.02058	T	0.006857	0.06286	T	-0.709607	0.00032	T	-0.784544	0.02319	T	0.00592771506031169	0.00065	T	0.558444	0.19458	T	0.053430177	0.10111	0.053148706	0.08897	0.053430177	0.10111	0.053148706	0.08897	-2.072	0.15628	T	.	.	0.161	0.35622	B	.;.;.;.	.;.;.;.	-0.038965	0.04020	0.921	0.72682063954151532	0.10058	0.03658	0.08916	N	AEFBI	0.044508	0.07168	N	-1.23296579859464	0.04529	0.2045956	-1.30918365524752	0.04310	0.2030405	0.889148847577553	0.25806	0.651	0.46895	0	0.670034	0.63936	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	3.56	-3.19	0.04853	1.057000	0.30102	0.658000	0.20477	0.676000	0.76740	0.004000	0.16614	0.012000	0.20211	0.034000	0.13613	0.5759:0.1484:0.2757:0.0	6.170	0.19623	769	0.49307	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1453.98	33	chr11	6955753	.	G	A	1453.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.011e+00;DP=821;ExcessHet=0.0000;FS=0.653;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=0.741;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,57:134:99:0|1:6955753_G_A:1468,0,3050:6955753	20	0	1	0
chr11	8638778	8638778	G	A	exonic	TRIM66	.	nonsynonymous SNV	TRIM66:NM_014818:exon10:c.C1751T:p.P584L,	.	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.885	P	0.336	B	0.001	D	0.999	D	1.845	L	2.43	T	-1.099	T	0.044	T	0.489	0.530	6.871	4.49	0.852	4.026	16.630	0.198	0.00776821065909	0.0002	.	4.744e-05	0.0005	0	0	0	0	0	0	6.5e-06	1	154602	rs371456414	4.36e-05	4.241e-05	2.68e-05	6.087e-05	0.0002	3.459e-05	3.135e-05	4.01e-05	3.598e-05	3.169e-05	0	3.975e-05	0	0	0.0002	5.098e-05	1.725e-05	2.525e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.27194	T	0.005	0.72224	D	0.885	0.48692	P	0.336	0.42263	B	0.000902	0.41128	D	0.110349	0.998729	0.45339	D	2.28	0.64929	M	2.43	0.15261	T	-3.5	0.70674	D	0.209	0.42247	-1.0985	0.04277	T	0.044	0.18906	T	10	0.11702865	0.22091	T	0.007768	0.20616	T	0.198	0.48105	.	.	0.237489013734	0.23353	0.3502816851328435	0.34942	.	.	0.397181451321	0.24676	T	0.055483	0.30020	T	-0.30467	0.08226	T	-0.438745	0.28949	T	0.214522436261177	0.21187	T	0.70483	0.31518	T	0.06317069	0.13272	0.08111973	0.18409	0.06317069	0.13271	0.08111973	0.18408	-4.446	0.30176	T	.	.	0.091	0.22825	B	.;.;.	.;.;.	2.613634	0.33953	19.49	0.66413160513973513	0.08052	0.91539	0.53741	D	AEFDBI	0.253074	0.37263	N	-0.28138960091018	0.29867	1.660154	-0.261706611049281	0.29370	1.644971	0.998537631919756	0.37148	0.562547	0.31514	0	0.653731	0.59785	0	0.685742	0.62368	0	0.491896	0.07777	0	.	.	5.39	4.49	0.54177	4.106000	0.57539	4.602000	0.44001	-0.110000	0.15115	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.0:0.1318:0.8682:0.0	16.630	0.84885	387	0.83408	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	882.98	34	chr11	8638778	.	G	A	882.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.41;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.22;ReadPosRankSum=1.95;SOR=0.841	GT:AD:DP:GQ:PL	0/1:29,29:58:99:897,0,767	20	0	1	0
chr11	10559867	10559867	G	C	exonic	LYVE1	.	nonsynonymous SNV	LYVE1:NM_006691:exon5:c.C731G:p.A244G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	D	1.000	D	2.215	M	2.62	T	-0.348	T	0.350	T	0.535	4.797	27.1	5.44	2.570	5.738	18.043	0.279	0.035680634441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0010	0.0001	0.0001	0.0001	9.22e-05	8.745e-05	0.0001	0.0001	3.018e-05	0	3.84e-05	0	0	0	0.0001	8.361e-05	3.493e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	0.999976	0.53665	D	1.995	0.54099	M	2.62	0.57100	T	-2.2	0.74051	N	0.656	0.78072	-0.3484	0.73600	T	0.350	0.71439	T	10	0.7359656	0.74622	D	0.035681	0.56501	D	0.279	0.59619	0.486	0.56939	0.740229456086	0.73790	0.4308752596838396	0.43004	0.43936280621	0.43965	0.555330634117	0.46608	T	0.738373	0.92733	D	0.027231	0.55354	T	-0.198661	0.54773	T	0.952442526817322	0.63793	D	0.80142	0.48765	T	0.3713057	0.58681	0.47502097	0.69577	0.3713057	0.58681	0.47502097	0.69577	-3.975	0.23428	T	.	.	0.29	0.61572	B	.;.	.;.	4.798394	0.77943	26.8	0.99798832104841995	0.88372	0.95259	0.64030	D	AEFI	0.868902	0.78922	D	0.791556132315038	0.85574	8.616862	0.766818552650126	0.87408	9.211633	0.934815928530212	0.27187	0.615465	0.37627	0	0.563428	0.19063	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.124000	0.71349	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.043	0.89248	516	0.74704	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2333	480.78	80	chr11	10559867	.	G	C,A	480.78	.	AC=1,6;AF=0.033,0.200;AN=30;BaseQRankSum=-3.132e+00;DP=2242;ExcessHet=2.5830;FS=198.804;InbreedingCoeff=-0.3113;MLEAC=1,7;MLEAF=0.033,0.233;MQ=60.00;MQRankSum=0.00;QD=0.60;ReadPosRankSum=0.321;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:95,0,38:133:37:.:.:37,303,2187,0,1884,1786	8	0	1	6
chr11	10559867	10559867	G	A	exonic	LYVE1	.	nonsynonymous SNV	LYVE1:NM_006691:exon5:c.C731T:p.A244V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.998	D	0.000	D	1.000	D	2.215	M	2.74	T	-0.451	T	0.344	T	0.724	4.500	24.2	5.44	2.570	5.738	18.043	0.222	0.0316624712336	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1011426411	1.382e-05	1.372e-05	1.79e-05	9.716e-06	0.0009	9.03e-06	7.34e-06	0.0003	0.0002	3.015e-05	0	0	0	0	0.0009	1.184e-05	0	1.164e-05	1.322e-05	1.316e-05	1.291e-05	1.354e-05	1.473e-05	2.2e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.473e-05	0	0	0.116	0.91255	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	0.999982	0.54805	D	1.995	0.54099	M	2.74	0.57100	T	-1.72	0.74051	N	0.743	0.83371	-0.4509	0.70370	T	0.344	0.70940	T	10	0.7525157	0.75742	D	0.031662	0.53686	D	0.222	0.51872	0.383	0.40134	0.752590173691	0.75035	0.5316431793870309	0.53089	0.438298358417	0.43869	0.586091697216	0.50943	T	0.380784	0.74325	T	0.128026	0.67169	D	-0.0538753	0.66757	D	0.953589856624603	0.64061	D	0.849515	0.57326	T	0.22611228	0.45285	0.23588851	0.48845	0.22611228	0.45285	0.23588851	0.48844	-4.267	0.27712	T	.	.	0.576	0.75037	P	.;.	.;.	4.864352	0.79626	27.1	0.99869083234187406	0.94726	0.94107	0.60133	D	AEFI	0.863055	0.78149	D	0.767749876461228	0.84054	8.182144	0.746411232723111	0.85890	8.717017	0.934815928530212	0.27187	0.615465	0.37627	0	0.563428	0.19063	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.124000	0.71349	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.043	0.89248	516	0.74704	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2333	480.78	80	chr11	10559867	.	G	C,A	480.78	.	AC=1,6;AF=0.033,0.200;AN=30;BaseQRankSum=-3.132e+00;DP=2242;ExcessHet=2.5830;FS=198.804;InbreedingCoeff=-0.3113;MLEAC=1,7;MLEAF=0.033,0.233;MQ=60.00;MQRankSum=0.00;QD=0.60;ReadPosRankSum=0.321;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:95,0,38:133:37:.:.:37,303,2187,0,1884,1786	8	0	1	6
chr11	12294806	12294806	-	CTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTC:p.P470_T471insP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,40,0,0,0,0,0:90:99:.:.:1349,0,1808,1501,1928,3429,1501,1928,3429,3429,1501,1928,3429,3429,3429,1501,1928,3429,3429,3429,3429,1501,1928,3429,3429,3429,3429,3429	6	0	4	0
chr11	12294806	12294806	-	CTCCTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTCCTC:p.P470_T471insPPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,40,0,0,0,0,0:90:99:.:.:1349,0,1808,1501,1928,3429,1501,1928,3429,3429,1501,1928,3429,3429,3429,1501,1928,3429,3429,3429,3429,1501,1928,3429,3429,3429,3429,3429	6	0	4	0
chr11	12294806	12294806	-	CTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTC:p.P470_T471insPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,40,0,0,0,0,0:90:99:.:.:1349,0,1808,1501,1928,3429,1501,1928,3429,3429,1501,1928,3429,3429,3429,1501,1928,3429,3429,3429,3429,1501,1928,3429,3429,3429,3429,3429	6	0	4	0
chr11	12294806	12294806	-	CTCCTCCTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTCCTCCTC:p.P470_T471insPPPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,40,0,0,0,0,0:90:99:.:.:1349,0,1808,1501,1928,3429,1501,1928,3429,3429,1501,1928,3429,3429,3429,1501,1928,3429,3429,3429,3429,1501,1928,3429,3429,3429,3429,3429	6	0	4	0
chr11	12294798	12294806	CTCCTCCTC	-	exonic	MICALCL	.	nonframeshift deletion	MICALCL:NM_032867:exon3:c.1367_1375del:p.P468_P470del,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0140	.	0.0027	0.0050	0.0026	0.0015	0.0007	0.0029	0.0042	0.0020	0.0005379	14	26028	rs761605598	0.0069	0.0073	0.0069	0.0069	0.0141	0.0068	0.0067	0.0130	0.0126	0.0141	0.0080	0.0114	0.0007	0.0005	0.0089	0.0070	0.0088	0.0060	0.0111	0.0096	0.0115	0.0106	0.0238	0.0106	0.0104	0.0222	0.0215	0.0238	0	0.0146	0.0137	0.0013	0.0009	0.0324	0.0073	0.0091	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,40,0,0,0,0,0:90:99:.:.:1349,0,1808,1501,1928,3429,1501,1928,3429,3429,1501,1928,3429,3429,3429,1501,1928,3429,3429,3429,3429,1501,1928,3429,3429,3429,3429,3429	6	0	4	0
chr11	12294801	12294806	CTCCTC	-	exonic	MICALCL	.	nonframeshift deletion	MICALCL:NM_032867:exon3:c.1370_1375del:p.P469_P470del,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,40,0,0,0,0,0:90:99:.:.:1349,0,1808,1501,1928,3429,1501,1928,3429,3429,1501,1928,3429,3429,3429,1501,1928,3429,3429,3429,3429,1501,1928,3429,3429,3429,3429,3429	6	0	4	0
chr11	17642173	17642173	G	C	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon52:c.G8378C:p.S2793T	Deafness, autosomal recessive 18B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	.	.	.	.	0.128	U	1.000	N	0.695	N	2.45	T	-1.004	T	0.025	T	0.192	1.707	11.67	2.94	1.072	1.017	5.334	0.015	0.0240615396344	.	0.000199681	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs576084175	9.3e-06	8.893e-06	5.646e-06	1.305e-05	0.0001	5.19e-06	4e-06	6.767e-05	5.136e-05	0	0	0	0	0	0	2.781e-06	0	0.0001	2.626e-05	2.624e-05	2.569e-05	2.685e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.24	0.17701	T	0.103	0.38305	T	.	.	.	.	.	.	0.127996	0.18747	U	0.460617	0.996471	0.23003	N	0.345	0.11182	N	2.34	0.16351	T	-0.99	0.26200	N	0.16	0.17553	-1.0045	0.28607	T	0.025	0.10598	T	8	0.056983143	0.06474	T	0.024062	0.47042	T	0.015	0.02232	0.417	0.45709	0.117506650769	0.11410	0.23721367024150786	0.23636	.	.	0.44744104147	0.31594	T	0.042287	0.26133	T	-0.274154	0.11299	T	-0.631579	0.10296	T	0.0831810068288361	0.10389	T	0.590841	0.21745	T	0.054059047	0.10320	0.07198592	0.15479	0.054059047	0.10319	0.07198592	0.15479	-3.777	0.20461	T	.	.	0.098	0.16054	B	.;.	.;.	1.204732	0.15971	12.23	0.91037606351440969	0.20289	0.86808	0.46171	D	AEFDBI	0.422752	0.48862	N	-0.177821843177342	0.34059	1.939542	-0.114924398839571	0.34787	2.005076	0.00542423905233858	0.10934	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.09	2.94	0.33188	1.058000	0.30114	0.572000	0.19617	-0.169000	0.11342	0.993000	0.37899	0.041000	0.21590	0.623000	0.31974	0.4701:0.0:0.5299:0.0	5.334	0.15255	677	0.60274	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1510.98	60	chr11	17642173	.	G	C	1510.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.754;DP=982;ExcessHet=0.0000;FS=1.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.42;ReadPosRankSum=1.36;SOR=0.849	GT:AD:DP:GQ:PL	0/1:43,55:98:99:1525,0,1001	20	0	1	0
chr11	22272895	22272895	C	G	exonic	ANO5	.	nonsynonymous SNV	ANO5:NM_001142649:exon19:c.C2138G:p.T713S	Gnathodiaphyseal dysplasia, Autosomal dominant;Miyoshi muscular dystrophy 3, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2L, Autosomal recessive	YES	0	1512	10	0	0	10	0.00329598	.	.	192166	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L|Gnathodiaphyseal_dysplasia|ANO5-Related_Muscle_Diseases|not_provided	MONDO:MONDO:0012652,MedGen:C1969785,OMIM:611307,Orphanet:206549|MONDO:MONDO:0008151,MedGen:C1833736,OMIM:166260,Orphanet:53697|MedGen:CN180644|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.17	T	0.03	B	0.258	B	0.000	D	1.000	D	2.375	M	-0.16	T	-0.535	T	0.350	T	0.944	4.314	22.6	5.57	2.776	7.767	19.907	0.498	0.0222549554459	0.0005	0.000199681	0.0007	0	0.0006	0	0	0.0010	0	0.0012	0.0006921	107	154602	rs200631556	0.0008	0.0008	0.0007	0.0008	0.0057	0.0007	0.0007	0.0042	0.0037	0.0001	0.0010	0.0013	0	0	0.0057	0.0008	0.0009	0.0013	0.0009	0.0009	0.0010	0.0008	0.0014	0.0008	0.0007	0.0011	0.0010	0.0002	0	0.0014	0.0020	0	0	0	0.0013	0.0033	0.0006	0.067	0.35918	T	0.05	0.48080	T	0.03	0.20002	B	0.258	0.39350	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.425	0.70256	M	-0.16	0.65378	T	-3.33	0.66206	D	0.854	0.85027	-0.5355	0.67334	T	0.350	0.71399	T	10	0.19104081	0.34773	T	0.022255	0.45130	T	0.498	0.78226	0.638	0.77470	0.64802381883	0.64510	0.6109420288198557	0.61026	0.124345642986	0.14002	0.704861760139	0.67848	T	0.308895	0.68096	T	0.0216646	0.54607	T	0.222965	0.84324	D	0.0878402663427369	0.10959	T	0.89751	0.64163	D	0.44743386	0.63879	0.36949426	0.62218	0.44743386	0.63879	0.36949426	0.62218	-8.152	0.62101	D	0.34720984758349843	0.44465	0.2	0.42361	B	.	.	3.741146	0.53572	23.4	0.99474427690680556	0.66525	0.98626	0.84855	D	AEFBI	0.943100	0.94852	D	0.357017464991941	0.59112	4.087909	0.488150366090404	0.67205	5.052767	0.999999999280968	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.57	5.57	0.84021	7.896000	0.85926	7.701000	0.66289	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.907	0.97012	758	0.50837	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	834.98	33	chr11	22272895	.	C	G	834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=7.000e-03;DP=757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-5.710e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:34,34:68:99:849,0,839	20	0	1	0
chr11	31789914	31789915	TT	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729_730del:p.K244Gfs*7	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	2/3:8,12,17,22:69:43:855,307,846,172,307,392,284,43,0,306	0	0	0	0
chr11	31789915	31789915	T	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729delA:p.K244Rfs*29	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	2/3:8,12,17,22:69:43:855,307,846,172,307,392,284,43,0,306	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|1:84,26:110:99:0|1:33085952_T_C:366,0,2242:33085952	1	0	5	15
chr11	34118472	34118472	T	A	exonic	NAT10	.	nonsynonymous SNV	NAT10:NM_001144030:exon6:c.T533A:p.V178E	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.005	B	0.000	D	1.000	D	1.295	L	1.66	T	-1.076	T	0.057	T	0.94	1.753	11.82	5.29	1.994	7.819	14.901	0.305	0.0179597054977	.	.	2.525e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs767544123	9.577e-06	9.577e-06	2.723e-06	1.65e-05	0.0005	5.56e-06	4.35e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	1.799e-06	6.624e-05	5.797e-05	6.573e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.678	0.04912	T	0.956	0.02603	T	0.001	0.07471	B	0.005	0.11217	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.59	0.40313	L	1.65	0.27650	T	-0.21	0.14390	N	0.807	0.85979	-1.0763	0.08083	T	0.057	0.23828	T	10	0.46797812	0.59688	T	0.01796	0.39858	T	0.305	0.62620	0.321	0.30064	0.434825671192	0.43100	0.7000636056539792	0.69947	0.319701965432	0.34168	0.761399149895	0.76137	T	0.015876	0.13230	T	0.0584888	0.59423	T	0.0498385	0.73573	D	0.477555930614471	0.31808	T	0.965403	0.87236	D	0.25382712	0.48407	0.24521577	0.50004	0.25382712	0.48406	0.24521577	0.50003	-7.031	0.54260	T	.	.	0.297	0.55651	B	.;.;.;.	.;.;.;.	4.400524	0.67996	25.2	0.90240780947778965	0.19512	0.99548	0.97318	D	AEFGBI	0.898987	0.84287	D	-0.140055316793691	0.35660	2.051045	0.0705169679277808	0.43074	2.61677	0.999992219291391	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.29	5.29	0.74430	7.822000	0.84804	6.146000	0.54124	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.781000	0.36947	0.0:0.0:0.0:1.0	14.901	0.70324	332	0.86382	.;.;.;.	.	.	.	.	.	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	1209.98	34	chr11	34118472	.	T	A	1209.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.011e+00;DP=820;ExcessHet=0.0000;FS=10.927;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=-7.900e-02;SOR=0.194	GT:AD:DP:GQ:PL	0/1:47,50:97:99:1224,0,1385	20	0	1	0
chr11	45810988	45810988	G	A	exonic	SLC35C1	.	nonsynonymous SNV	SLC35C1:NM_018389:exon2:c.G748A:p.G250R	Congenital disorder of glycosylation, type IIc, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	326743	Inborn_genetic_diseases|Leukocyte_adhesion_deficiency_type_II	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009953,MedGen:C0398739,OMIM:266265,Orphanet:2968,Orphanet:99843	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.984	D	0.000	D	1.000	D	2.39	M	-0.34	T	-0.069	T	0.480	T	0.853	4.516	24.3	5.99	2.840	7.743	14.602	0.559	0.0763684170877	0.0004	0.000399361	0.0002	0.0016	8.654e-05	0	0	7.527e-05	0	0	0.0001617	25	154602	rs148606857	8.765e-05	8.824e-05	9.13e-05	8.395e-05	0.0023	7.495e-05	7.042e-05	0.0019	0.0017	0.0023	0.0001	0	0	0	0	2.698e-05	0.0002	2.319e-05	0.0007	0.0007	0.0008	0.0006	0.0022	0.0006	0.0005	0.0018	0.0017	0.0022	0	0.0003	0	0	0	0	4.41e-05	0.0014	0	0.002	0.72154	D	0.003	0.76473	D	0.999	0.77913	D	0.984	0.76113	D	0.000000	0.84330	D	0.091863	1	0.81001	D	3.435	0.92070	M	-0.34	0.68474	T	-6.57	0.91912	D	0.823	0.81857	-0.0694	0.80794	T	0.480	0.80139	T	10	0.28722352	0.46305	T	0.076368	0.72515	D	0.559	0.81888	0.599	0.72984	0.952526322933	0.95202	0.8765420563398909	0.87621	1.51269319405	0.87272	0.617652177811	0.55397	T	0.60728	0.87501	D	-0.00377941	0.51133	T	0.216868	0.84015	D	0.312053824346929	0.25498	T	0.889011	0.61998	D	0.7597197	0.81436	0.71722263	0.83308	0.7597197	0.81438	0.71722263	0.83309	-10.976	0.80845	D	0.5693892281869314	0.63665	0.319	0.54419	B	.;.	.;.	4.649721	0.74108	26.1	0.99920526110975472	0.98721	0.95821	0.66297	D	AEFDGBCI	0.934290	0.92744	D	0.90082606568022	0.91799	11.07117	0.890111989317866	0.95127	13.33549	0.999999999255453	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.99	5.99	0.97299	7.865000	0.85466	9.845000	0.81950	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.173000	0.21076	0.069:0.0:0.931:0.0	14.602	0.68048	549	0.72275	.;Sugar phosphate transporter 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	2810.98	38	chr11	45810988	.	G	A	2810.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.10;DP=895;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.64;ReadPosRankSum=0.189;SOR=0.727	GT:AD:DP:GQ:PL	0/1:89,103:192:99:2825,0,2033	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|2:217,0,64:281:99:0|1:56375926_G_A:2031,2684,11788,0,9104,8911:56375926	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|2:217,0,64:281:99:0|1:56375926_G_A:2031,2684,11788,0,9104,8911:56375926	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|2:217,0,64:281:99:0|1:56375926_G_A:2031,2684,11788,0,9104,8911:56375926	1	0	3	1
chr11	56988921	56988921	T	A	exonic	OR5AK2	.	nonsynonymous SNV	OR5AK2:NM_001005323:exon1:c.T8A:p.L3Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.0	B	0.0	B	0.787	N	1.000	N	-0.755	N	6.5	T	-0.974	T	0.001	T	0.099	-1.814	0.009	-2.88	-0.640	-1.891	1.259	0.011	0.00194130034194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.02495	T	0.699	0.05747	T	0.0	0.02946	B	0.0	0.01387	B	0.787488	0.06691	N	1.140860	1	0.08975	N	-0.72	0.01791	N	6.5	0.00529	T	2.77	0.00177	N	0.071	0.04426	-0.9736	0.36431	T	0.001	0.00222	T	10	0.054807156	0.05891	T	0.001941	0.03456	T	0.011	0.01250	0.374	0.38667	0.0401082797425	0.02173	0.05577596708260057	0.05518	.	.	0.190569102764	0.00235	T	1.02E-4	0.00011	T	-0.399578	0.02330	T	-0.811742	0.01626	T	0.0763862567065326	0.09518	T	0.217778	0.02747	T	0.067652844	0.14671	0.06529966	0.13215	0.067652844	0.14670	0.06529966	0.13215	-3.446	0.15683	T	.	.	0.059	0.00742	B	.	.	-1.230392	0.00501	0.011	0.1557729881307385	0.00386	0.00218	0.01233	N	AEFGI	0.023712	0.01360	N	-1.84786341285623	0.00438	0.01885179	-1.83719678550015	0.00647	0.02877461	1.64780342407529E-4	0.05721	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.85	-2.88	0.05342	-1.412000	0.02582	.	.	-2.501000	0.00263	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4106:0.1416:0.0928:0.355	1.259	0.01876	413	0.81939	.	.	.	.	.	.	Uncertain significance	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	2564.98	33	chr11	56988921	.	T	A	2564.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.389;DP=938;ExcessHet=0.0000;FS=5.995;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=-1.996e+00;SOR=1.121	GT:AD:DP:GQ:PL	0/1:108,100:208:99:2579,0,2749	20	0	1	0
chr11	59457550	59457550	T	G	exonic	OR4D6	.	nonsynonymous SNV	OR4D6:NM_001004708:exon1:c.T590G:p.L197R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.967	D	0.93	D	0.015	N	1.000	N	2.315	M	8.53	T	-0.943	T	0.001	T	0.598	3.022	16.08	2.16	0.478	1.433	6.689	0.084	0.00498800520926	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338112458	4.788e-06	4.788e-06	4.084e-06	5.5e-06	0.0002	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0.0002	5.396e-06	0	0	1.315e-05	1.314e-05	1.285e-05	1.346e-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	0.0	0.91255	D	0.0	0.92824	D	0.967	0.56408	D	0.93	0.66466	D	0.014623	0.28476	N	0.149852	1	0.08975	N	2.37	0.68279	M	8.53	0.00198	T	-4.97	0.82063	D	0.494	0.52740	-0.9431	0.42121	T	0.001	0.00438	T	10	0.59350276	0.66512	D	0.004988	0.12598	T	0.084	0.24469	0.647	0.78436	0.631890121941	0.62887	0.63858794511736	0.63792	0.47644623831	0.46775	0.257723689079	0.04623	T	0.012037	0.10647	T	-0.0922345	0.37706	T	-0.370265	0.36859	T	0.978903770446777	0.72559	D	0.719828	0.33277	T	0.7755412	0.82381	0.8043115	0.88541	0.7755412	0.82383	0.8043115	0.88541	-8.399	0.63758	D	.	.	0.157	0.34624	B	.	.	3.553394	0.49967	22.9	0.99665092411865552	0.78202	0.37988	0.25886	N	AEFBI	0.131529	0.25050	N	0.208493630426054	0.51610	3.340887	0.0930076971506981	0.44195	2.706069	5.12613586069093E-6	0.01202	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.0	2.16	0.26663	0.919000	0.28312	0.775000	0.21430	0.665000	0.62972	0.012000	0.18695	0.005000	0.19230	0.978000	0.57271	0.2395:0.0:0.2476:0.5129	6.689	0.22348	266	0.89551	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	0.02381	2371.98	145	chr11	59457550	.	T	G	2371.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.128e+00;DP=2413;ExcessHet=0.0000;FS=1.120;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=-2.080e-01;SOR=0.599	GT:AD:DP:GQ:PL	0/1:97,94:191:99:2386,0,2632	20	0	1	0
chr11	61309066	61309066	T	A	exonic	DDB1	.	nonsynonymous SNV	DDB1:NM_001923:exon21:c.A2578T:p.T860S,	.	.	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.04	B	0.021	B	0.000	D	1.000	D	1.04	L	1.63	T	-1.044	T	0.092	T	0.288	3.516	17.96	5.08	1.903	7.948	14.858	0.115	0.00592325226897	.	.	5.766e-05	0	0	0	0	8.991e-05	0	6.056e-05	4.53e-05	7	154602	rs757118401	3.42e-05	3.42e-05	2.722e-05	4.125e-05	0.0005	2.631e-05	2.375e-05	0.0001	7.541e-05	0	0	0.0009	0	0	0.0005	7.194e-06	9.935e-05	0.0001	1.315e-05	1.313e-05	1.285e-05	1.346e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0.0003	0	0	0	0	0	0.0002	0.088	0.32296	T	0.335	0.18286	T	0.009	0.15093	B	0.021	0.19346	B	0.000001	0.84330	D	0.054132	0.999996	0.58761	D	1.04	0.26193	L	0.99	0.41750	T	-0.81	0.22294	N	0.239	0.26957	-1.0444	0.16000	T	0.092	0.35065	T	10	0.16721243	0.31202	T	0.005923	0.15430	T	0.115	0.32236	0.349	0.34598	0.540943628029	0.53747	0.14698347004895024	0.14620	0.807762257892	0.66579	0.718014657497	0.69756	T	0.155309	0.49698	T	-0.247489	0.14408	T	-0.41175	0.32023	T	0.0800882767729525	0.09999	T	0.785321	0.42297	T	0.27876237	0.50928	0.22085795	0.46876	0.27876237	0.50928	0.22085795	0.46875	-4.712	0.33549	T	.	.	0.077	0.06571	B	.	.	3.427809	0.47621	22.5	0.98942331285291607	0.48959	0.99169	0.92246	D	AEFBI	0.945135	0.95308	D	0.0444062864209249	0.43886	2.672853	0.225751867987339	0.51280	3.311988	0.999999997031547	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	7.927000	0.87017	7.927000	0.74823	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.858	0.69990	732	0.54084	Cleavage/polyadenylation specificity factor, A subunit, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2281.98	36	chr11	61309066	.	T	A	2281.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.321;DP=885;ExcessHet=0.0000;FS=1.207;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=0.028;SOR=0.831	GT:AD:DP:GQ:PL	0/1:80,91:171:99:2296,0,1877	20	0	1	0
chr11	61509753	61509753	-	T	exonic	LRRC10B	.	frameshift insertion	LRRC10B:NM_001145077:exon1:c.755_756insT:p.A253Sfs*5,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1365607032	1.459e-06	1.368e-06	0	2.957e-06	1.863e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.863e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	891.94	35	chr11	61509753	.	C	CT	891.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=829;ExcessHet=0.0000;FS=2.236;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.12;ReadPosRankSum=0.617;SOR=1.136	GT:AD:DP:GQ:PL	0/1:32,27:59:99:906,0,1115	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|1:77,22:99:31:0|1:61740527_G_C:31,0,1841:61740527	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|1:61,45:106:99:0|1:61740527_G_C:808,0,1091:61740527	0	0	21	0
chr11	61743591	61743591	C	T	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon20:c.C2231T:p.P744L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.991	D	0.766	P	0.000	D	1.000	D	0.55	N	1.23	T	-1.002	T	0.097	T	0.493	2.870	15.56	3.1	2.057	4.444	15.457	0.153	0.0258473987523	.	.	9.569e-06	0	0	0	0	1.68e-05	0	0	6.5e-06	1	154602	rs763369500	7.055e-07	3.42e-06	0	1.424e-06	3.103e-05	0	0	.	.	3.103e-05	0	0	0	0	0	0	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	0.002	0.72154	D	0.137	0.33894	T	0.991	0.64070	D	0.766	0.56676	P	0.000027	0.55875	D	0.000000	1	0.81001	D	0.55	0.14455	N	1.23	0.36872	T	-1.72	0.40850	N	0.061	0.03283	-1.0020	0.29342	T	0.097	0.36445	T	10	0.25546202	0.42938	T	0.025847	0.48797	D	0.153	0.40148	0.363	0.36874	0.123314135267	0.11883	0.419016608776451	0.41817	0.512778458504	0.49301	0.695604920387	0.66510	T	0.148701	0.48738	T	-0.0729513	0.40856	T	-0.342566	0.40054	T	0.458090901374817	0.31096	T	0.646635	0.25786	T	0.18745002	0.40199	0.24368685	0.49817	0.18745002	0.40199	0.24368685	0.49816	-6.458	0.49961	T	.	.	0.157	0.34624	B	.	.	3.679661	0.52371	23.2	0.99829535434482164	0.91112	0.97325	0.74040	D	AEFBI	0.525664	0.54834	D	0.0372872581755055	0.43559	2.646425	-0.0556121934834188	0.37249	2.178366	0.999999999194321	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.603688	0.36954	0	0.567892	0.33627	0	.	.	3.1	3.1	0.34780	4.486000	0.60015	7.417000	0.58687	0.464000	0.21668	0.985000	0.35982	1.000000	0.68203	0.040000	0.14268	0.0:1.0:0.0:0.0	15.457	0.75046	754	0.51307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	990.98	41	chr11	61743591	.	C	T	990.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.310e-01;DP=950;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=-4.940e-01;SOR=0.598	GT:AD:DP:GQ:PL	0/1:38,38:76:99:1005,0,1012	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	0/1:92,101:193:99:2459,0,2427	19	0	2	0
chr11	66239153	66239153	G	A	exonic	PACS1	.	nonsynonymous SNV	PACS1:NM_018026:exon21:c.G2305A:p.D769N,	Schuurs-Hoeijmakers syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1688974	not_provided|Schuurs-Hoeijmakers_syndrome	MedGen:C3661900|MONDO:MONDO:0014006,MedGen:C3554343,OMIM:615009,Orphanet:329224	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.11	T	0.989	D	0.818	P	0.000	D	1.000	D	1.845	L	0.63	T	-0.711	T	0.231	T	0.272	3.653	18.57	5.07	2.531	8.189	17.634	0.310	0.0662474719995	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs751638632	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.63226	T	0.003	0.76473	D	0.989	0.62824	D	0.818	0.58969	P	0.000001	0.84330	D	0.057485	0.999999	0.58761	D	2.325	0.66631	M	0.63	0.53088	T	-4.32	0.76655	D	0.286	0.35938	-0.7114	0.59884	T	0.231	0.59707	T	10	0.22627988	0.39479	T	0.066247	0.69818	D	0.310	0.63162	0.374	0.38667	0.2419029386	0.23804	0.3556903415445146	0.35483	1.81973249962	0.91917	0.473407864571	0.35150	T	0.207446	0.56708	T	-0.12287	0.32655	T	-0.317417	0.42857	T	0.986259996891022	0.77021	D	0.871813	0.57812	D	0.359772	0.57819	0.28033513	0.54008	0.359772	0.57819	0.28033513	0.54007	-9.043	0.67974	D	0.4055546521572407	0.49670	0.202	0.42578	B	.;.	.;.	4.552736	0.71668	25.7	0.99818364554096906	0.90150	0.99389	0.95397	D	AEFDGBI	0.845123	0.76205	D	0.543181750101794	0.69668	5.389757	0.482113931971125	0.66807	5.000183	0.999999999800575	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.07	5.07	0.68106	8.399000	0.90081	11.702000	0.94515	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.616000	0.31793	0.0:0.0:1.0:0.0	17.634	0.88019	113	0.95418	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2549.98	35	chr11	66239153	.	G	A	2549.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.800e-02;DP=928;ExcessHet=0.0000;FS=1.038;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-2.082e+00;SOR=0.776	GT:AD:DP:GQ:PL	0/1:112,108:220:99:2564,0,2648	20	0	1	0
chr11	66295417	66295417	C	T	exonic	TMEM151A	.	nonsynonymous SNV	TMEM151A:NM_153266:exon2:c.C1171T:p.P391S,	.	.	423	1088	11	0	0	11	0.00502972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	T	0.001	B	0.007	B	0.000	D	0.628	D	0	N	.	.	-1.018	T	0.049	T	0.109	0.019	4.114	3.87	2.002	5.453	5.829	0.082	.	0.0003	.	0.0076	0	0	0	0	0.0320	0.0135	0.0002	0.0007568	117	154602	rs373152395	0.0015	0.0015	0.0014	0.0016	0.0053	0.0014	0.0014	0.0035	0.0030	0.0003	0.0009	0.0441	0	2.145e-05	0.0053	0.0007	0.0040	0.0004	0.0016	0.0016	0.0018	0.0014	0.0012	0.0014	0.0014	0.0008	0.0007	0.0001	0	0.0012	0.0428	0	0	0.0103	0.0008	0.0057	0.0004	1.0	0.00964	T	0.791	0.04181	T	0.001	0.07471	B	0.007	0.12992	B	0.000096	0.51296	D	0.080949	0.628332	0.32767	D	-1.545	0.00469	N	.	.	.	0.52	0.02853	N	0.039	0.01274	-1.0178	0.24431	T	0.049	0.21065	T	9	0.0018358827	0.00025	T	.	.	.	0.082	0.23913	.	.	0.043077524339	0.03247	0.2910298125544627	0.29015	.	.	0.801923394203	0.82255	T	0.003866	0.03272	T	-0.524435	0.00414	T	-0.566624	0.15760	T	0.00780754122038952	0.00091	T	0.60024	0.22396	T	0.05096164	0.09288	0.08535057	0.19699	0.05096164	0.09287	0.08535057	0.19699	-3.672	0.18905	T	.	.	0.070	0.03625	B	.	.	1.608451	0.20553	14.80	0.60321797752222273	0.06435	0.94879	0.62647	D	AEFDBI	0.142096	0.26445	N	-0.429916054685299	0.24426	1.318801	-0.235570229536928	0.30272	1.703003	0.992884438820962	0.33004	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	3.87	3.87	0.43823	2.878000	0.48213	3.796000	0.39849	0.499000	0.22661	1.000000	0.71638	0.999000	0.35428	0.915000	0.45038	0.0:0.7788:0.0:0.2212	5.829	0.17824	91	0.96221	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	344.98	29	chr11	66295417	.	C	T	344.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=591;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.37;ReadPosRankSum=0.462;SOR=0.693	GT:AD:DP:GQ:PL	0/1:12,12:24:99:359,0,348	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	0/2:19,0,27,0:46:99:971,1029,1798,0,770,690,1029,1798,770,1798	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	0/1:81,41:127:81:.:.:81,0,1276	8	0	12	1
chr11	67367561	67367561	G	A	exonic	CLCF1	.	nonsynonymous SNV	CLCF1:NM_001166212:exon2:c.C52T:p.L18F	Cold-induced sweating syndrome 2, Autosomal recessive	.	0	225	1	0	0	1	0.00221729	.	.	2351594	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.994	D	0.986	D	0.050	N	1.000	D	0	N	-1.77	D	0.349	D	0.574	D	0.405	4.550	24.6	5.26	2.646	4.211	18.859	0.513	0.0214483187736	.	.	0.0001	0	0	0	0	0	0	0.0009	9.7e-05	15	154602	rs766150197	7.593e-05	7.593e-05	4.22e-05	0.0001	0.0011	6.424e-05	6.004e-05	0.0010	0.0009	0	0	0	0	0	0.0003	4.497e-06	8.28e-05	0.0011	1.974e-05	1.971e-05	0	4.042e-05	0.0006	5.25e-06	2.46e-06	0.0002	9.007e-05	0	0	0	0	0	0	0	0	0	0.0006	0.02	0.49613	D	0.079	0.42086	T	0.994	0.66517	D	0.986	0.76916	D	0.050340	0.23081	N	0.321156	0.999883	0.50402	D	0.55	0.14455	N	-1.82	0.84047	D	-2.18	0.51811	N	0.46	0.50418	0.349	0.88319	D	0.574	0.84604	D	10	0.15184739	0.28694	T	0.021448	0.44220	T	0.513	0.79156	.	.	0.578786405315	0.57548	0.31489641992489115	0.31402	0.968259920111	0.73269	0.820547938347	0.85111	D	0.206574	0.56595	T	-0.234665	0.16038	T	-0.160297	0.58325	T	0.260921567678452	0.23355	T	0.657134	0.26688	T	0.20806354	0.43031	0.20489953	0.44634	0.20806354	0.43031	0.20489953	0.44633	-5.16	0.38676	T	0.2740275266244425	0.36817	0.115	0.22861	B	.;.	.;.	4.400771	0.67996	25.2	0.99888989499411873	0.96359	0.95556	0.65192	D	AEFDGBI	0.624937	0.60832	D	0.498360895239706	0.66992	5.022801	0.555281489345559	0.71767	5.705055	0.999999999995171	0.74766	0.615465	0.37627	0	0.610034	0.51514	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	5.26	5.26	0.73479	4.451000	0.59788	11.752000	0.95431	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.859	0.92234	414	0.81871	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2003.98	35	chr11	67367561	.	G	A	2003.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.194e+00;DP=856;ExcessHet=0.0000;FS=0.642;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=1.08;SOR=0.618	GT:AD:DP:GQ:PL	0/1:72,77:149:99:2018,0,1984	20	0	1	0
chr11	67452264	67452264	C	T	exonic	GPR152	.	nonsynonymous SNV	GPR152:NM_206997:exon1:c.G461A:p.G154D,	.	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.996	D	0.001	N	0.980	D	1.495	L	1.06	T	-0.852	T	0.168	T	0.707	3.318	17.16	4.43	2.490	0.971	6.116	0.165	0.0149824402734	.	.	0.0002	0	0	0	0	0	0	0.0016	0.0001746	27	154602	rs554436929	0.0001	0.0001	6.005e-05	0.0002	0.0018	9.964e-05	9.371e-05	0.0015	0.0014	0	0	0	0	0	0.0003	3.597e-06	0.0001	0.0018	4.595e-05	4.593e-05	0	9.398e-05	0.0014	2.107e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.006	0.61437	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.001477	0.38917	N	0.000000	0.979709	0.39589	D	2.46	0.71463	M	1.06	0.39781	T	-4.62	0.79143	D	0.811	0.80669	-0.8519	0.51837	T	0.168	0.50681	T	10	0.27880192	0.45451	T	0.014982	0.35442	T	0.165	0.42395	.	.	0.650641314552	0.64773	0.7659023017265049	0.76539	1.10181829964	0.77759	0.841626703739	0.88342	D	0.320947	0.69209	T	-0.270108	0.11744	T	-0.185395	0.56020	T	0.289381507479367	0.24564	T	0.617538	0.23656	T	0.48239535	0.66046	0.53868705	0.73340	0.48239535	0.66046	0.53868705	0.73341	-10.708	0.78032	D	.	.	0.873	0.81041	P	.	.	3.870832	0.56201	23.7	0.99809627149994729	0.89353	0.54101	0.29533	D	AEFDBHCIJ	0.232819	0.35583	N	0.377317391527173	0.60193	4.205783	0.325287907907078	0.57031	3.867526	0.999997353111855	0.74766	0.437478	0.07067	0	0.550933	0.16991	0	0.578056	0.29568	0	0.603991	0.37454	0	.	.	5.34	4.43	0.52967	0.102000	0.15108	4.003000	0.41092	0.599000	0.40250	0.000000	0.06391	0.999000	0.35428	0.459000	0.28096	0.1876:0.7185:0.0:0.0939	6.116	0.19346	693	0.58582	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	1333.98	33	chr11	67452264	.	C	T	1333.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.030;DP=784;ExcessHet=0.0000;FS=1.699;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=0.281;SOR=0.894	GT:AD:DP:GQ:PL	0/1:39,53:92:99:1348,0,948	20	0	1	0
chr11	67663739	67663739	C	T	exonic	ALDH3B2	.	nonsynonymous SNV	ALDH3B2:NM_001031615:exon9:c.G896A:p.R299Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.059	B	0.037	B	0.092	N	1.000	N	0.985	L	-0.99	T	-0.963	T	0.205	T	0.071	0.432	6.349	1.8	0.352	-0.972	5.547	0.031	0.0200039406079	7.7e-05	.	7.728e-05	0.0002	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs368400737	3.973e-05	3.967e-05	3.678e-05	4.27e-05	0.0002	3.117e-05	2.85e-05	8.212e-05	5.793e-05	2.988e-05	0.0001	0.0007	0.0002	0	0.0002	1.351e-05	0.0002	2.321e-05	8.544e-05	8.537e-05	0.0001	5.381e-05	9.656e-05	4.958e-05	3.964e-05	3.25e-05	1.915e-05	9.656e-05	0	0	0.0017	0	0	0	2.94e-05	0.0005	0	0.374	0.11406	T	0.363	0.16815	T	0.059	0.23051	B	0.037	0.23121	B	0.091735	0.20310	N	0.493990	0.999977	0.18612	N	0.645	0.16088	N	-0.99	0.75911	T	-0.04	0.07590	N	0.263	0.29774	-0.9631	0.38586	T	0.205	0.56376	T	10	0.04536417	0.03599	T	0.020004	0.42500	T	0.031	0.07369	.	.	0.646832327391	0.64391	0.5168276532727841	0.51605	0.235134821444	0.26041	0.193114951253	0.00285	T	0.032394	0.22466	T	-0.404457	0.02164	T	-0.582083	0.14359	T	0.0220477535950442	0.00914	T	0.728627	0.34357	T	0.032112163	0.03176	0.030511642	0.01517	0.032112163	0.03175	0.030511642	0.01517	-6.328	0.48944	T	.	.	0.069	0.03443	B	.;.	.;.	0.461166	0.08307	5.057	0.97126820760704746	0.32482	0.04703	0.10392	N	AEFDBI	0.075803	0.15232	N	-0.925398350714307	0.10250	0.4889504	-0.956655425293621	0.10768	0.5445201	0.140066431176811	0.17256	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.71	1.8	0.24069	-0.823000	0.04550	-8.319000	0.00990	-0.304000	0.06167	0.000000	0.06391	0.000000	0.08366	0.123000	0.19290	0.1573:0.6601:0.0:0.1826	5.547	0.16354	774	0.48577	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1645.98	41	chr11	67663739	.	C	T	1645.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=938;ExcessHet=0.0000;FS=4.250;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=1.40;SOR=0.419	GT:AD:DP:GQ:PL	0/1:62,66:128:99:1660,0,1413	20	0	1	0
chr11	67991847	67991847	G	A	exonic	UNC93B1	.	nonsynonymous SNV	UNC93B1:NM_030930:exon11:c.C1493T:p.A498V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.555	P	0.143	B	0.216	N	0.966	N	0.695	N	-1.41	T	-0.901	T	0.231	T	0.606	2.429	14.08	3.11	0.521	0.925	5.058	0.440	0.0403862860783	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1208815449	7.071e-07	1.779e-05	0	1.426e-06	9.108e-07	0	0	.	.	0	0	0	0	0	0	9.108e-07	0	0	0	3.283e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.017	0.60337	D	0.555	0.38231	P	0.143	0.33763	B	0.215761	0.16257	N	0.615302	0.966186	0.25905	N	1.825	0.47900	L	.	.	.	.	.	.	0.063	0.03502	-0.9012	0.47868	T	0.231	0.59670	T	10	0.1654081	0.30917	T	0.040386	0.59348	D	0.440	0.74377	0.405	0.43738	0.158540857583	0.15491	0.4060508217823503	0.40521	0.420604647903	0.42585	0.468714177608	0.34503	T	0.130211	0.45896	T	0.0184593	0.54173	T	-0.211261	0.53575	T	0.465876817703247	0.31380	T	0.768523	0.39806	T	0.015669458	0.00151	0.05196928	0.08468	0.015669458	0.00151	0.05196928	0.08468	-3.507	0.16529	T	.	.	0.091	0.12938	B	.	.	2.196021	0.28006	17.65	0.98856010622524326	0.47390	0.75494	0.36966	D	AEFBI	0.332490	0.43188	N	-0.502908379857113	0.21985	1.170775	-0.408011009313115	0.24762	1.357808	0.352282230603595	0.19695	0.732398	0.92422	0	0.743671	0.97443	0	0.693117	0.63056	0	0.567892	0.33627	0	.	.	4.98	3.11	0.34883	0.998000	0.29345	0.184000	0.15665	-0.243000	0.07376	0.536000	0.27236	0.000000	0.08366	0.886000	0.42526	0.1896:0.1734:0.6371:0.0	5.058	0.13880	693	0.58582	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	47.0	8	chr11	67991847	.	G	A	47.0	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-5.490e-01;DP=273;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0714;MLEAC=1;MLEAF=0.025;MQ=50.15;MQRankSum=-8.030e-01;QD=4.70;ReadPosRankSum=0.282;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:60:0|1:67991845_C_T:60,0,323:67991845	19	0	1	1
chr11	74034038	74034038	G	A	exonic	C2CD3	.	nonsynonymous SNV	C2CD3:NM_001286577:exon31:c.C6122T:p.A2041V,	.	.	428	1046	45	3	0	51	0.0237984	.	.	1636264	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.38	T	.	.	.	.	0.303	N	1.000	N	.	.	2.89	T	-0.956	T	0.014	T	0.062	0.739	7.921	0.757	0.107	0.702	7.148	0.022	.	.	0.00419329	0.0103	0.0029	0.0105	0	0.0012	0.0118	0.0155	0.0121	0.0024903	385	154602	rs145765035	0.0102	0.0097	0.0100	0.0105	0.0207	0.0101	0.0100	0.0177	0.0165	0.0013	0.0088	0.0141	2.798e-05	0.0021	0.0207	0.0107	0.0105	0.0144	0.0072	0.0072	0.0069	0.0076	0.0149	0.0069	0.0067	0.0122	0.0111	0.0019	0	0.0105	0.0118	0.0006	0.0020	0.0170	0.0103	0.0104	0.0149	0.357	0.12032	T	1.0	0.01155	T	.	.	.	.	.	.	0.303068	0.14564	N	0.568389	1	0.08975	N	0.69	0.16971	N	2.89	0.10196	T	-0.68	0.19509	N	0.049	0.02088	-0.9562	0.39879	T	0.014	0.05513	T	7	0.0032682419	0.00056	T	.	.	.	0.022	0.04323	.	.	0.190952846119	0.18690	0.09636815681837105	0.09568	.	.	.	.	.	0.014624	0.12415	T	-0.686165	0.00044	T	-0.746728	0.03615	T	0.00242903817196853	0.00025	T	0.384762	0.09420	T	0.014301993	0.00088	0.027103482	0.00840	0.018582454	0.00379	0.027103482	0.00840	-3.909	0.22438	T	0.4769490741205062	0.55632	0.086	0.10449	B	.	.	0.334210	0.07081	3.651	0.96379676144853632	0.29614	0.16803	0.19556	N	AEFBI	0.042617	0.06635	N	-0.505629189530834	0.21898	1.165457	-0.619008337508464	0.19005	1.017794	0.725674567777487	0.22984	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.03	0.757	0.17574	0.457000	0.21588	-0.302000	0.10107	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.381000	0.26357	0.2722:0.1111:0.6167:0.0	7.148	0.24772	325	0.86759	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	5198.11	38	chr11	74034038	.	G	A	5198.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.201e+00;DP=1060;ExcessHet=0.1072;FS=1.217;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.90;ReadPosRankSum=-4.800e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/1:87,101:188:99:2916,0,2287	19	0	2	0
chr11	76795629	76795631	CTG	-	exonic	TSKU	.	nonframeshift deletion	TSKU:NM_001258210:exon2:c.13_15del:p.L9del	.	.	375	1091	56	0	0	56	0.0250223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0413	0.0372	0.0486	0.0402	0.0415	0.0386	0.0385	0.0507	0.0008452	22	26028	rs149062181	0.0001	0.0072	9.125e-05	0.0001	0.0002	9.903e-05	9.372e-05	0.0001	8.924e-05	3.022e-05	0.0001	0.0002	0.0001	0.0013	0.0002	5.647e-05	8.417e-05	0.0002	6.578e-06	0.0001	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	104.94	36	chr11	76795628	.	CCTG	C	104.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=974;ExcessHet=0.0000;FS=2.124;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.95;ReadPosRankSum=1.34;SOR=0.628	GT:AD:DP:GQ:PL	0/1:100,10:110:99:119,0,4141	20	0	1	0
chr11	77181571	77181571	G	C	exonic	MYO7A	.	nonsynonymous SNV	MYO7A:NM_000260:exon23:c.G2886C:p.Q962H	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	YES	1	1515	6	0	0	6	0.00197628	.	.	52364	Usher_syndrome_type_1|not_specified|not_provided|Hearing_impairment|Autosomal_dominant_nonsyndromic_hearing_loss_11|Autosomal_recessive_nonsyndromic_hearing_loss_2	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666|MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317,Orphanet:90635|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.902	P	0.547	P	0.000	D	1.000	D	2.175	M	-2.22	D	0.356	D	0.672	D	0.374	3.111	16.39	4.38	1.178	1.339	10.480	0.509	0.142729787417	0.0006	0.000399361	0.0007	0	0.0004	0	0	0.0006	0.0012	0.0025	0.0006986	108	154602	rs200641606	0.0009	0.0009	0.0008	0.0010	0.0023	0.0009	0.0008	0.0020	0.0019	0.0001	0.0008	0	0	0	0.0012	0.0009	0.0009	0.0023	0.0008	0.0008	0.0007	0.0008	0.0021	0.0007	0.0006	0.0011	0.0009	0.0002	0	0.0012	0	0	0	0.0034	0.0012	0.0005	0.0021	0.03	0.45393	D	0.029	0.54541	D	0.835	0.46254	P	0.45	0.46092	P	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	2.41	0.69639	M	-2.35	0.88220	D	-2.86	0.60188	D	0.719	0.73555	0.356	0.88432	D	0.672	0.88628	D	10	0.03781724	0.02160	T	0.14273	0.82509	D	0.509	0.78910	0.185	0.09388	0.933037470612	0.93235	0.4215274539480771	0.42068	0.326978781557	0.34837	0.662930965424	0.61828	T	0.761673	0.93549	D	-0.252676	0.13771	T	-0.148958	0.59336	T	0.0780916671038934	0.09741	T	0.954504	0.87759	D	0.349676	0.57042	0.25605518	0.51298	0.349676	0.57042	0.25605518	0.51297	-4.732	0.33789	T	0.2007504194745198	0.26651	0.167	0.45011	B	.;.;.;.;.;.	.;.;.;.;.;.	3.874209	0.56268	23.7	0.99703978305646701	0.80867	0.95648	0.65567	D	AEFGBI	0.803126	0.72835	D	0.318502780478038	0.57097	3.876029	0.322719321125163	0.56878	3.851856	0.139919083158056	0.17253	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.32	4.38	0.52019	1.394000	0.34118	4.453000	0.43430	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.161:0.0:0.839:0.0	10.480	0.43878	614	0.66605	.;.;.;.;.;.	.	.	.	.	.	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	2351.98	35	chr11	77181571	.	G	C	2351.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.070e-01;DP=976;ExcessHet=0.0000;FS=7.277;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=0.157;SOR=1.134	GT:AD:DP:GQ:PL	0/1:125,109:234:99:2366,0,2996	20	0	1	0
chr11	78073127	78073127	G	A	exonic	NDUFC2;NDUFC2-KCTD14	.	nonsynonymous SNV	NDUFC2-KCTD14:NM_001203260:exon2:c.C181T:p.L61F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.981	D	0.91	D	0.002	N	1.000	D	1.87	L	0.52	T	-0.614	T	0.294	T	0.621	2.209	13.34	5.41	2.826	2.370	18.129	0.207	0.0152927396069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.056	0.49390	T	0.981	0.59675	D	0.91	0.64641	D	0.001730	0.38161	N	0.225304	0.997377	0.81001	D	1.24	0.30952	L	0.52	0.55266	T	-1.81	0.45222	N	0.298	0.39861	-0.6135	0.64258	T	0.294	0.66536	T	10	0.3948178	0.55150	T	0.015293	0.35936	T	0.207	0.49555	0.713	0.84872	0.422404719673	0.41854	0.39554031383581617	0.45522	1.60170403797	0.88696	0.471053600311	0.34825	T	0.012824	0.22643	T	0.0064378	0.52540	T	-0.228529	0.51914	T	0.894019484519958	0.54533	D	0.711729	0.32279	T	0.26298738	0.58596	0.3322656	0.59435	0.26298738	0.58596	0.3322656	0.59434	-4.531	0.31292	T	.	.	0.393	0.60035	A	.;.;.;.;.	.;.;.;.;.	2.988644	0.39896	21.1	0.99742894030052776	0.83629	0.83901	0.42992	D	AEFBI	0.434239	0.49537	N	0.535680113664548	0.69216	5.325468	0.504055823415607	0.68263	5.195942	0.99999788602083	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.41	5.41	0.78313	1.816000	0.38630	7.553000	0.60314	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.785000	0.37106	0.0:0.0:1.0:0.0	18.129	0.89525	601	0.67921	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1923	241.89	39	chr11	78073127	.	G	C,A	241.89	.	AC=3,2;AF=0.115,0.077;AN=26;BaseQRankSum=-6.900e-02;DP=670;ExcessHet=1.2264;FS=167.558;InbreedingCoeff=-0.2704;MLEAC=5,3;MLEAF=0.192,0.115;MQ=60.00;MQRankSum=0.00;QD=1.62;ReadPosRankSum=0.524;SOR=9.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:24,3,13:40:67:.:.:67,98,1058,0,512,486	8	0	3	8
chr11	78708489	78708489	T	C	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon27:c.A4081G:p.I1361V,	Tremor, hereditary essential, 5, Autosomal dominant	.	426	1080	15	1	0	17	0.00780891	.	.	724760	TENM4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.913	P	0.891	P	0.000	D	1.000	D	0.95	L	-2.67	D	0.428	D	0.725	D	0.505	4.329	22.7	5.52	2.320	6.112	15.811	0.481	.	0.0008	0.00199681	0.0023	0.0002	0.0006	0.0002	0.0002	0.0008	0.0012	0.0132	0.0019857	307	154602	rs200821670	0.0013	0.0013	0.0009	0.0018	0.0130	0.0013	0.0013	0.0124	0.0121	0.0001	0.0004	0.0030	5.038e-05	3.745e-05	0.0045	0.0005	0.0015	0.0130	0.0009	0.0009	0.0007	0.0011	0.0127	0.0008	0.0007	0.0101	0.0092	7.215e-05	0	0.0003	0.0052	0	0	0.0068	0.0007	0.0005	0.0127	0.17	0.22833	T	0.142	0.33330	T	0.913	0.50474	P	0.891	0.63213	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	0.935	0.23595	L	-2.67	0.90332	D	-0.72	0.20358	N	0.354	0.39558	0.428	0.89514	D	0.725	0.90590	D	9	0.011501104	0.00251	T	.	.	.	0.481	0.77142	.	.	0.323442020237	0.31956	0.3995742354190841	0.39872	0.294285333989	0.31851	0.615581035614	0.55104	T	0.112932	0.42958	T	-0.23194	0.16392	T	-0.0949118	0.63789	T	0.0598651018056591	0.07147	T	0.888511	0.61827	D	0.12055117	0.28363	0.15244803	0.35867	0.12055117	0.28363	0.15244803	0.35866	-5.775	0.44356	T	0.11152381363218447	0.09546	0.075	0.05535	B	.	.	3.801113	0.54768	23.5	0.99896844721841027	0.96971	0.96640	0.70161	D	AEFDGBIJ	0.754221	0.69417	D	0.497766097494585	0.66960	5.018224	0.537977490225704	0.70564	5.523974	0.999999999994788	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.550215	0.18615	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	6.255000	0.72423	6.215000	0.55059	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.0:0.0:1.0	15.811	0.78336	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	925.98	35	chr11	78708489	.	T	C	925.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.288e+00;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.85;ReadPosRankSum=0.828;SOR=0.703	GT:AD:DP:GQ:PL	0/1:53,41:94:99:940,0,1389	20	0	1	0
chr11	83225048	83225048	T	A	exonic	ANKRD42	.	nonsynonymous SNV	ANKRD42:NM_001300972:exon6:c.T780A:p.D260E	.	.	442	1074	5	1	0	7	0.00324826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	B	0.057	B	0.006	N	1.000	N	1.155	L	2.41	T	-1.036	T	0.029	T	0.193	0.517	6.802	5.23	1.959	0.652	6.294	0.037	0.00747496267257	7.7e-05	.	0.0002	0	0	0	0	3.026e-05	0.0022	0.0013	0.0001746	27	154602	rs143071836	0.0001	0.0001	7.911e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0	6.725e-05	7.669e-05	0	0	0.0010	2.702e-05	0.0001	0.0018	5.918e-05	5.908e-05	2.572e-05	9.418e-05	0.0012	3.079e-05	2.212e-05	0.0005	0.0004	0	0	0.0001	0	0	0	0	1.47e-05	0	0.0012	0.308	0.17643	T	0.943	0.09931	T	0.081	0.24602	B	0.017	0.18140	B	0.005829	0.32475	N	0.218284	0.969756	0.25738	N	1.79	0.46772	L	2.41	0.15492	T	-1.42	0.34992	N	0.094	0.10198	-1.0363	0.18450	T	0.029	0.12541	T	9	0.027549297	0.00899	T	0.007475	0.19819	T	0.037	0.09474	0.364	0.37036	0.472982741448	0.46926	0.07182555690820777	0.07119	0.127038506119	0.14318	0.331278532743	0.15128	T	0.01914	0.15304	T	-0.554011	0.00276	T	-0.598654	0.12925	T	0.0255836470005992	0.01350	T	0.550145	0.18957	T	0.07057652	0.15557	0.04573222	0.06218	0.07057652	0.15556	0.04573222	0.06217	-7.616	0.58422	D	.	.	0.091	0.18456	B	.;.;.;.	.;.;.;.	1.339068	0.17456	13.17	0.78018407278316571	0.12121	0.62655	0.31847	D	AEFI	0.088496	0.17940	N	-0.25156253415284	0.31042	1.736679	-0.11197521751383	0.34907	2.013271	4.57068096603988E-4	0.07036	0.638212	0.43195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.23	5.23	0.72570	0.355000	0.19902	0.401000	0.18000	0.665000	0.62972	0.998000	0.41325	0.999000	0.35428	0.758000	0.36073	0.1569:0.0:0.1632:0.6799	6.294	0.20283	562	0.71143	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1520.11	33	chr11	83225048	.	T	A	1520.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.809;DP=782;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.08;ReadPosRankSum=1.05;SOR=0.703	GT:AD:DP:GQ:PL	0/1:24,40:64:99:1045,0,597	19	0	2	0
chr11	89870773	89870773	G	A	exonic	TRIM64B	.	stopgain	TRIM64B:NM_001164397:exon6:c.C1198T:p.Q400X,	.	.	1	224	1	0	0	1	0.00222717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.982	D	.	.	.	.	.	.	.	.	.	2.527	14.41	-4.4	-0.887	-1.347	3.799	.	.	.	0.000399361	9.696e-05	0	0	0	0	0.0002	0	0	0.0001153	3	26028	rs547495938	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	9.501e-05	0.0003	0	0	2.022e-05	0.0014	0.0001	0.0003	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	8.16e-05	6.717e-05	0.0001	7.892e-05	2.405e-05	0	0.0003	0	0	9.406e-05	0.0034	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.982416	0.39889	D	.	.	.	.	.	.	.	.	.	0.063	0.03502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0165442	0.49344	T	0.0473265	0.73407	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	3.147317	0.42591	21.6	0.93170317719738782	0.22827	0.00279	0.01508	N	AEFI	0.014329	0.00223	N	-0.152931093926703	0.35111	2.012552	-0.632407615541668	0.18662	0.9979648	1.03772553826697E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.2	-4.4	0.03349	-1.579000	0.02227	-11.334000	0.00614	0.306000	0.19039	0.000000	0.06391	0.000000	0.08366	0.194000	0.21720	0.0:0.3443:0.294:0.3617	3.799	0.08268	725	0.54935	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY 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	1303.98	33	chr11	89870773	.	G	A	1303.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.318e+00;DP=963;ExcessHet=0.0000;FS=3.036;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.00;MQRankSum=-1.229e+00;QD=4.42;ReadPosRankSum=-7.970e-01;SOR=0.907	GT:AD:DP:GQ:PL	0/1:224,71:295:99:1318,0,5966	20	0	1	0
chr11	90086077	90086077	G	-	exonic	UBTFL1	.	frameshift deletion	UBTFL1:NM_001143975:exon1:c.128delG:p.G44Efs*3,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	.	9.514e-05	0	0	0	0	6.122e-05	0	0.0004	7.12e-05	11	154602	rs768662733	9.663e-05	9.512e-05	8.369e-05	0.0001	0.0007	8.326e-05	7.831e-05	0.0006	0.0005	3.003e-05	0	0	0	0	0	6.393e-05	0.0001	0.0007	6.923e-06	6.707e-06	0	1.43e-05	2.454e-05	0	0	.	.	2.454e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	1228.3	38	chr11	90086076	.	TG	T	1228.3	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.483;DP=1205;ExcessHet=0.0000;FS=2.529;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=43.53;MQRankSum=-3.592e+00;QD=11.37;ReadPosRankSum=0.363;SOR=1.007	GT:AD:DP:GQ:PL	0/1:61,47:108:99:1242,0,1701	19	0	1	1
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|1:33,8:41:99:0|1:90086557_G_C:104,0,812:90086557	12	0	3	6
chr11	90086559	90086559	T	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.T610C:p.S204P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0034	0.0014	0.0010	0.0015	0.0011	0.0011	0.0014	0.0014	0.0007	6.138e-05	0.0003	0.0002	0	0.0015	0.0015	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.30729	T	0.114	0.26387	B	0.055	0.25995	B	.	.	.	.	.	.	.	1.81	0.47622	L	.	.	.	.	.	.	0.184	0.19995	.	.	.	.	.	.	.	0.09870526	0.17865	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	0.206982614041448	0.20614	.	.	0.471310138702	0.34860	T	0.051993	0.29036	T	-0.036046	0.46533	T	-0.289554	0.45819	T	.	.	.	0.212979	0.02609	T	0.15890183	0.35723	0.25574014	0.51261	0.15890183	0.35723	0.25574014	0.51260	-4.303	0.28219	T	.	.	0.081	0.08272	B	.	.	1.230443	0.16252	12.42	0.61155269003408275	0.06639	0.12260	0.17159	N	AEFI	.	.	.	.	.	.	.	.	.	2.32955600745505E-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	0.059000	0.14199	-0.821000	0.07295	0.305000	0.19019	0.018000	0.19461	0.000000	0.08366	0.048000	0.15020	0.0:0.0:0.0:1.0	6.324	0.20441	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	0.05556	58.32	32	chr11	90086559	.	T	C	58.32	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-6.940e-01;DP=679;ExcessHet=0.1190;FS=67.569;InbreedingCoeff=-0.0843;MLEAC=1;MLEAF=0.028;MQ=33.62;MQRankSum=-3.700e-01;QD=0.70;ReadPosRankSum=1.39;SOR=6.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,5:44:3:0|1:90086557_G_C:3,0,1602:90086557	16	0	2	3
chr11	94307512	94307512	C	A	exonic	IZUMO1R	.	nonsynonymous SNV	IZUMO1R:NM_001199206:exon5:c.C573A:p.S191R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.245	B	0.222	B	0.295	N	0.797	N	1.87	L	-1.12	T	-0.600	T	0.330	T	0.508	1.591	11.28	0.033	0.208	0.140	4.426	0.022	0.0503972571708	.	.	8.284e-06	0	8.64e-05	0	0	0	0	0	6.5e-06	1	154602	rs762264181	4.79e-06	4.788e-06	2.723e-06	6.878e-06	6.708e-05	1.99e-06	1.28e-06	1.779e-05	8.93e-06	0	6.708e-05	0	0	0	0	1.799e-06	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.097	0.39190	T	0.245	0.31074	B	0.222	0.37884	B	0.295181	0.14697	N	0.713054	0.796681	0.29163	N	2.715	0.79425	M	-1.15	0.77964	T	-2.72	0.65283	D	0.4	0.44090	-0.6004	0.64801	T	0.330	0.69758	T	10	0.26244596	0.43713	T	0.050397	0.64223	D	0.321	0.64318	0.565	0.68633	0.233150807113	0.22925	0.8611858656415803	0.86082	0.0238746124903	0.02421	0.558987379074	0.47125	T	0.333223	0.70310	T	-0.136348	0.30474	T	-0.23666	0.51124	T	0.316603481769562	0.25684	T	0.678032	0.28700	T	0.16723579	0.37109	0.2057901	0.44764	0.16723579	0.37108	0.2057901	0.44763	-5.634	0.43102	T	.	.	0.405	0.59826	A	.;.	.;.	2.173104	0.27693	17.55	0.97934838279409009	0.36985	0.11509	0.16681	N	AEFDBI	0.077870	0.15698	N	-0.604281045431404	0.18814	0.9798512	-0.689376653617925	0.17225	0.9149867	0.00386996775982194	0.10312	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.33	0.033	0.13496	0.364000	0.20053	-0.697000	0.07812	0.549000	0.26987	0.261000	0.24959	0.000000	0.08366	0.040000	0.14268	0.1602:0.5488:0.0:0.291	4.426	0.10928	749	0.51929	Folate receptor-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	1	0	0	0	0.04762	5582.11	36	chr11	94307512	.	C	A	5582.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.631e+00;DP=1145;ExcessHet=0.1072;FS=1.101;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-6.070e-01;SOR=0.594	GT:AD:DP:GQ:PL	0/1:115,119:234:99:2994,0,3184	19	0	2	0
chr11	94528131	94528131	G	A	exonic	C11orf97	.	nonsynonymous SNV	C11orf97:NM_001190462:exon3:c.G298A:p.G100S,	.	.	438	944	131	9	0	149	0.0731468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0107827	0.0327	0.0054	0.0106	0	0	0.0239	0.0379	0.0402	0.0043337	670	154602	rs12802057	0.0088	0.0084	0.0077	0.0099	0.0687	0.0087	0.0086	0.0631	0.0608	0.0066	0.0086	0.0279	0.0002	0.0008	0.0687	0.0062	0.0150	0.0377	0.0082	0.0082	0.0075	0.0090	0.0321	0.0079	0.0077	0.0280	0.0264	0.0056	0.0011	0.0098	0.0268	0.0002	0.0002	0.0442	0.0083	0.0194	0.0321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0038235784	0.00072	T	.	.	.	.	.	.	.	.	.	0.09051444811491477	0.08984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.520648	0.16939	T	0.046739276	0.07874	0.13153316	0.31583	0.046739276	0.07874	0.13153316	0.31582	-3.12	0.11527	T	.	.	0.066	0.02228	B	.	.	1.111347	0.14965	11.48	0.78473321330434909	0.12316	0.48366	0.28191	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929341479701201	0.26965	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.340229	0.35942	5.56	0.771	0.17648	0.488000	0.22080	0.510000	0.19072	0.654000	0.53741	0.995000	0.38783	0.969000	0.29651	0.948000	0.49324	0.3869:0.0:0.6131:0.0	9.309	0.37057	859	0.33891	.	.	.	.	.	rs12802057	Uncertain significance	0	0	0	0	0	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	5153.68	46	chr11	94528131	.	G	A	5153.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.150e-01;DP=1256;ExcessHet=0.3300;FS=1.769;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.03;ReadPosRankSum=0.104;SOR=0.846	GT:AD:DP:GQ:PL	0/1:118,75:193:99:1709,0,3068	18	0	3	0
chr11	94593554	94593554	A	G	exonic	PIWIL4	.	nonsynonymous SNV	PIWIL4:NM_152431:exon9:c.A1063G:p.M355V,	.	.	436	1043	42	1	0	44	0.0206573	.	.	702038	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.001	B	0.087	N	1.000	D	0.23	N	2.62	T	-0.958	T	0.008	T	0.076	-1.574	0.014	-0.778	0.019	-0.376	8.814	0.117	.	0.0067	0.00459265	0.0047	0.0129	0.0055	0	0.0003	0.0037	0.0088	0.0074	0.004586	709	154602	rs34492831	0.0039	0.0039	0.0037	0.0041	0.0189	0.0038	0.0037	0.0160	0.0150	0.0120	0.0049	0.0040	2.519e-05	0.0003	0.0189	0.0033	0.0059	0.0089	0.0061	0.0061	0.0060	0.0061	0.0129	0.0058	0.0056	0.0120	0.0116	0.0129	0.0011	0.0048	0.0032	0	0	0.0068	0.0036	0.0118	0.0066	0.791	0.03192	T	0.474	0.12107	T	0.0	0.02946	B	0.001	0.04355	B	0.087059	0.20554	N	0.422160	0.999746	0.20516	N	0.25	0.09762	N	2.62	0.12988	T	-0.62	0.18248	N	0.072	0.04547	-0.9581	0.39534	T	0.008	0.02884	T	10	0.008027405	0.00182	T	.	.	.	0.117	0.32689	.	.	0.15556083564	0.15200	0.33646312682960244	0.33559	0.292844032975	0.31705	0.303213775158	0.10881	T	0.049508	0.28327	T	-0.733065	0.00023	T	-0.814097	0.01575	T	0.000791278126423152	0.00007	T	0.668933	0.27772	T	0.054207113	0.10369	0.08011389	0.18094	0.054207113	0.10369	0.08011389	0.18093	-4.999	0.36829	T	.	.	0.050	0.00136	B	.	.	0.207442	0.05916	2.354	0.53700198470870886	0.04991	0.01050	0.03913	N	AEFI	0.025181	0.01684	N	-1.02090349749187	0.08170	0.3821699	-0.986236603951907	0.10094	0.5062335	0.74418407930807	0.23259	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.77	-0.778	0.10423	-0.376000	0.07522	1.074000	0.23831	-0.582000	0.04700	0.000000	0.06391	0.254000	0.23938	0.559000	0.30388	0.7495:0.0:0.2505:0.0	8.814	0.34144	793	0.45818	PAZ domain|PAZ domain|PAZ 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	4484.11	62	chr11	94593554	.	A	G	4484.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.29;DP=1097;ExcessHet=0.1072;FS=2.639;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.31;ReadPosRankSum=0.876;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,61:145:99:0|1:94593544_G_A:2248,0,3227:94593544	19	0	2	0
chr11	95026776	95026776	T	G	exonic	KDM4E	.	nonsynonymous SNV	KDM4E:NM_001161630:exon1:c.T1219G:p.F407V,	.	.	433	1082	7	0	0	7	0.00322432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.002	B	0.003	B	.	.	1.000	N	0.345	N	1.77	T	-0.989	T	0.019	T	0.132	-0.476	1.807	-1.49	-0.428	-0.016	2.449	0.003	.	0.0072	0.00279553	0.0059	0.0006	0.0099	0	0	0.0068	0	0.0065	0.0020116	311	154602	rs143234858	0.0104	0.0098	0.0105	0.0102	0.0120	0.0102	0.0102	0.0118	0.0117	0.0016	0.0037	0.0005	0	0.0107	0.0026	0.0120	0.0085	0.0047	0.0068	0.0068	0.0074	0.0061	0.0113	0.0064	0.0063	0.0107	0.0104	0.0019	0	0.0032	0.0009	0	0.0093	0.0034	0.0113	0.0066	0.0033	0.436	0.09374	T	0.333	0.18395	T	0.002	0.09854	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	1.77	0.25841	T	0.79	0.01893	N	0.097	0.07811	-0.9890	0.32853	T	0.019	0.07846	T	9	0.004265785	0.00085	T	.	.	.	0.003	0.00094	.	.	0.043077524339	0.03247	0.15765746771663278	0.15686	0.463039974516	0.45817	0.356590986252	0.18889	T	0.001397	0.00857	T	-0.666727	0.00057	T	-0.719452	0.04823	T	0.000738389523539531	0.00007	T	0.217178	0.02724	T	0.02557602	0.01512	0.033147153	0.02162	0.02557602	0.01512	0.033147153	0.02161	-2.47	0.05580	T	.	.	0.080	0.07650	B	.	.	-0.385564	0.02267	0.234	0.33409785763846811	0.01988	0.00132	0.00814	N	AEFDBI	0.024669	0.01565	N	-1.29220034184438	0.03768	0.168928	-1.37451679846921	0.03525	0.1646331	0.536882318896718	0.21221	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.27	-1.49	0.08259	-0.394000	0.07357	-4.566000	0.02092	-1.134000	0.01451	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4209:0.3167:0.2625	2.449	0.04238	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	5363.68	39	chr11	95026776	.	T	G	5363.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.501;DP=1182;ExcessHet=0.3300;FS=2.431;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=-3.490e-01;SOR=0.604	GT:AD:DP:GQ:PL	0/1:119,90:209:99:2339,0,3255	18	0	3	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	1/1:0,118,0:123:99:.:.:4853,347,0,4906,381,5159	0	17	3	0
chr11	102083149	102083149	C	T	exonic	CFAP300	.	nonsynonymous SNV	CFAP300:NM_001363505:exon6:c.C682T:p.R228C	.	.	.	.	.	.	.	.	.	.	.	1673374	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.74	M	.	.	0.160	D	0.554	D	0.856	3.217	16.78	5.85	2.773	4.349	19.761	0.402	0.0196262632994	0.0002	.	0.0008	0	0	0	0.0095	0.0004	0.0055	0.0001	0.0006274	97	154602	rs199754694	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0001	0.0001	0	0	0	0	0.0077	0.0004	0.0001	0.0003	5.177e-05	0.0008	0.0008	0.0005	0.0011	0.0003	0.0007	0.0006	0.0002	0.0002	0	0	0	0	0	0.0093	0	0.0003	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000009	0.62929	D	0.111228	1	0.81001	D	.	.	.	.	.	.	-6.48	0.91522	D	0.742	0.74189	0.160	0.85220	D	0.554	0.83714	D	9	0.01345405	0.00285	T	0.019626	0.42042	T	0.402	0.71558	.	.	0.397838977388	0.39401	0.6586120345125259	0.65798	0.296031586504	0.31989	.	.	.	0.450544	0.79162	T	0.0916386	0.63374	D	0.275824	0.86894	D	0.314283013343811	0.25589	T	0.90351	0.66162	D	0.55164206	0.70047	0.55351985	0.74180	0.5705614	0.71093	0.47705978	0.69703	-6.605	0.51092	T	0.8524982137200119	0.91826	0.356	0.56978	A	.	.	5.162112	0.86499	28.9	0.99896201395295592	0.96895	0.93366	0.58024	D	AEFI	0.616943	0.60332	D	0.723642464063522	0.81183	7.462696	0.652843280005214	0.78823	6.954376	0.154896683155306	0.17500	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.85	5.85	0.93663	4.524000	0.60267	5.955000	0.51719	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.599000	0.31363	0.0:1.0:0.0:0.0	19.761	0.96315	586	0.69252	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.08333	189.24	70	chr11	102083149	.	C	T	189.24	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-3.124e+00;DP=957;ExcessHet=0.3300;FS=358.384;InbreedingCoeff=-0.1253;MLEAC=3;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=0.67;ReadPosRankSum=-1.140e-01;SOR=8.862	GT:AD:DP:GQ:PL	0/1:76,28:104:81:81,0,1076	15	0	3	3
chr11	102842429	102842429	A	C	splicing	MMP3	NM_002422:exon3:c.499+2T>G	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.857	12.17	6.16	2.367	9.009	16.806	.	.	.	.	0.0004	0	0.0001	0	0.0064	0.0002	0	0.0002	.	.	.	.	2.086e-05	5.618e-05	1.904e-05	2.273e-05	0.0001	1.164e-05	8.96e-06	1.83e-05	7.46e-06	8.443e-05	0	9.256e-05	4.578e-05	4.403e-05	0	1.009e-05	7.556e-05	0.0001	0.0005	0.0021	0.0007	0.0003	0.0019	0.0003	0.0002	0.0003	0.0002	0.0011	0	0	0	0	0	0	0.0004	0.0086	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197312	0.73641	D	0.0456489	0.73297	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.839421	0.78995	27.0	0.9793394705627908	0.36978	0.99771	0.99347	D	AEBI	.	.	.	1.08370277589635	0.97821	16.83255	0.912702695708804	0.96102	14.30564	0.999999820539921	0.74766	0.06567	0.01388	0	0.059962	0.00310	0	0.060301	0.00762	0	0.075334	0.01956	0	0.959304	0.64975	6.16	6.16	0.99302	5.701000	0.67981	11.058000	0.85397	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.602000	0.31438	1.0:0.0:0.0:0.0	16.806	0.85530	809	0.43032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	96.41	39	chr11	102842429	.	A	C	96.41	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.559e+00;DP=794;ExcessHet=0.3300;FS=9.975;InbreedingCoeff=-0.2970;MLEAC=5;MLEAF=0.357;MQ=59.81;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.90;SOR=1.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:39,6:45:2:.:.:2,0,1009	4	0	3	14
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	0/2:90,0,93:183:99:.:.:3314,3319,7352,0,3681,3341	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	0/2:90,0,93:183:99:.:.:3314,3319,7352,0,3681,3341	1	0	0	0
chr11	118893740	118893740	G	A	exonic	CXCR5	.	nonsynonymous SNV	CXCR5:NM_032966:exon1:c.G61A:p.V21M	.	.	401	1118	3	0	0	3	0.00133988	.	.	2288835	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.18	T	0.041	B	0.004	B	0.127	N	1.000	N	0.66	N	0.99	T	-1.067	T	0.049	T	0.134	-0.353	2.331	0.051	-0.183	-0.331	0.956	0.021	0.00429718638463	.	.	9.065e-05	0	0.0003	0	0	0.0001	0	0	0.0001035	16	154602	rs774152337	8.003e-05	8.003e-05	8.167e-05	7.838e-05	0.0066	6.8e-05	6.354e-05	0.0049	0.0044	5.974e-05	0.0003	0	0	0	0.0066	5.126e-05	9.934e-05	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0005	8.666e-05	7.258e-05	0.0003	0.0002	9.652e-05	0	0.0005	0	0	0	0	0.0001	0	0	0.405	0.10311	T	0.298	0.20486	T	0.041	0.21357	B	0.004	0.10090	B	0.127067	0.18781	N	0.559944	1	0.08975	N	-0.145	0.04423	N	0.99	0.41750	T	0.04	0.06488	N	0.093	0.07262	-1.0669	0.10108	T	0.049	0.21065	T	10	0.028982818	0.01026	T	0.004297	0.10435	T	0.021	0.04004	.	.	0.303453137403	0.29957	0.22514568583924252	0.22429	0.768549242623	0.64651	0.286113291979	0.08359	T	0.146732	0.48448	T	-0.502095	0.00556	T	-0.661442	0.08169	T	0.0127063620084815	0.00214	T	0.691131	0.30052	T	0.024997508	0.01388	0.039807033	0.04157	0.024997508	0.01388	0.039807033	0.04157	-5.385	0.40775	T	.	.	0.11	0.21201	B	.	.	0.067199	0.04764	1.385	0.8822380455991653	0.17810	0.04350	0.09917	N	AEFDBCI	0.058218	0.10907	N	-0.818486459827153	0.12838	0.6284151	-0.775145828715336	0.15106	0.7927921	0.999946085123459	0.47345	0.653281	0.48532	0	0.659037	0.61890	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.86	0.051	0.13610	-0.393000	0.07366	-0.169000	0.11245	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.619000	0.31870	0.4108:0.1576:0.2785:0.153	0.956	0.01299	433	0.80627	.	.	.	.	.	.	Uncertain significance	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	1716.98	33	chr11	118893740	.	G	A	1716.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.982;DP=851;ExcessHet=0.0000;FS=2.067;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=0.118;SOR=0.920	GT:AD:DP:GQ:PL	0/1:79,70:149:99:1731,0,1932	20	0	1	0
chr11	119056073	119056073	T	C	exonic	HYOU1	.	nonsynonymous SNV	HYOU1:NM_001130991:exon2:c.A88G:p.S30G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.139	B	0.076	B	0.000	D	1.000	D	0	N	4.86	T	-0.729	T	0.006	T	0.484	3.562	18.16	5.08	2.132	3.432	11.168	0.151	0.0170910379402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.16	0.57587	T	0.139	0.27501	B	0.076	0.28435	B	0.000108	0.50451	D	0.202273	1	0.81001	D	0	0.06538	N	4.57	0.19311	T	-1.78	0.42001	N	0.422	0.58798	-0.7292	0.59004	T	0.006	0.01870	T	10	0.3894447	0.54783	T	0.017091	0.38644	T	0.151	0.39764	0.367	0.37524	0.59934794714	0.59615	0.44576466739798204	0.44494	.	.	0.542173147202	0.44753	T	0.224752	0.58928	T	-0.13205	0.31165	T	-0.427457	0.30225	T	0.856012284755707	0.50692	D	.	.	.	0.14077787	0.32465	0.15557502	0.36461	0.14077787	0.32465	0.15557502	0.36460	-3.836	0.21343	T	.	.	0.072	0.06387	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	3.294260	0.45196	22.1	0.99214123406740162	0.55685	0.73149	0.35785	D	ALL	0.642863	0.61969	D	-0.137048746987506	0.35789	2.060087	0.0600022390067346	0.42558	2.576179	0.999999999998158	0.74766	0.542737	0.22433	0	0.504199	0.08210	0	0.685571	0.62057	0	0.273489	0.05413	2	.	.	5.08	5.08	0.68373	3.373000	0.52124	7.617000	0.62147	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.136000	0.19798	0.0:0.0:0.0:1.0	11.168	0.47782	225	0.91282	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1192.98	41	chr11	119056073	.	T	C	1192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.522e+00;DP=876;ExcessHet=0.0000;FS=3.404;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=0.717;SOR=1.056	GT:AD:DP:GQ:PL	0/1:67,51:118:99:1207,0,1753	20	0	1	0
chr11	119342609	119342609	C	A	exonic	MFRP	.	nonsynonymous SNV	MFRP:NM_031433:exon11:c.G1374T:p.L458F,	Microphthalmia, isolated 5, Autosomal recessive;Nanophthalmos 2	.	0	1471	50	1	0	52	0.0173681	.	.	254020	Isolated_microphthalmia_5|Retinal_degeneration|not_provided|not_specified	MONDO:MONDO:0012605,MedGen:C1970236,OMIM:611040,Orphanet:251279|Human_Phenotype_Ontology:HP:0000546,Human_Phenotype_Ontology:HP:0007632,Human_Phenotype_Ontology:HP:0007863,MONDO:MONDO:0004580,MeSH:D012162,MedGen:C0035304|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.744	P	0.154	B	0.010	N	1.000	N	2.215	M	-0.32	T	-0.858	T	0.136	T	0.094	1.929	12.41	1.96	0.550	0.645	16.728	0.109	.	0.0092	0.00698882	0.0085	0.0062	0.0078	0.0001	0.0025	0.0106	0.0129	0.0088	0.0082017	1268	154602	rs145881139	0.0081	0.0081	0.0079	0.0083	0.0314	0.0080	0.0079	0.0277	0.0262	0.0064	0.0081	0.0276	2.519e-05	0.0022	0.0314	0.0080	0.0109	0.0077	0.0089	0.0089	0.0095	0.0083	0.0117	0.0085	0.0084	0.0103	0.0098	0.0065	0.0011	0.0117	0.0309	0	0.0015	0.0680	0.0102	0.0180	0.0070	.	.	.	0.182	0.29249	T	0.744	0.43069	P	0.154	0.34351	B	0.010358	0.29961	N	0.247230	1	0.19486	N	2.62	0.76659	M	.	.	.	.	.	.	0.298	0.33687	-0.8583	0.51384	T	0.136	0.45126	T	9	0.005038619	0.00109	T	.	.	.	.	.	0.434	0.48500	0.627711000292	0.62467	0.18469345112672264	0.18387	.	.	.	.	.	0.063749	0.32256	T	-0.566532	0.00232	T	-0.576172	0.14889	T	0.0294748810528996	0.01909	T	0.642936	0.25461	T	0.18541276	0.39903	0.2185967	0.46569	0.17078535	0.37673	0.2185967	0.46568	-5.476	0.41643	T	0.5842365118693101	0.65103	0.151	0.33504	B	.	.	2.066711	0.26282	17.06	0.99012794696118744	0.50399	0.10667	0.16108	N	AEFDBI	0.234390	0.35716	N	-0.343735241443384	0.27504	1.509477	-0.433842890552151	0.24010	1.312488	0.947910229618793	0.27775	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	5.3	1.96	0.25203	-0.031000	0.12237	2.224000	0.31475	0.599000	0.40250	0.000000	0.06391	0.016000	0.20520	0.965000	0.52897	0.0:0.5711:0.4289:0.0	16.728	0.85288	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	1	0	0.02381	1188.98	33	chr11	119342609	.	C	A	1188.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.66;DP=789;ExcessHet=0.0000;FS=5.624;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=-1.654e+00;SOR=1.306	GT:AD:DP:GQ:PL	0/1:48,43:91:99:1203,0,1120	20	0	1	0
chr11	122956566	122956566	T	C	exonic	JHY	.	nonsynonymous SNV	JHY:NM_001363088:exon6:c.T1886C:p.I629T	.	.	430	1083	9	0	0	9	0.00413793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.867	P	0.44	B	0.127	N	1.000	N	1.995	M	0.67	T	-0.897	T	0.144	T	0.312	2.257	13.50	4.04	0.785	1.361	10.797	0.068	0.0211651695689	0.0003	0.000399361	0.0006	0	0.0003	0	0	0.0011	0.0011	6.078e-05	0.0005692	88	154602	rs184211693	0.0005	0.0005	0.0004	0.0005	0.0017	0.0004	0.0004	0.0009	0.0007	5.981e-05	0.0003	0.0110	0	1.873e-05	0.0017	0.0002	0.0011	0.0002	0.0005	0.0005	0.0005	0.0005	0.0004	0.0004	0.0004	0.0003	0.0002	2.407e-05	0	0.0001	0.0118	0	0	0	0.0004	0.0014	0	0.115	0.28520	T	0.247	0.23914	T	0.867	0.47667	P	0.44	0.45726	B	0.126866	0.18788	N	0.534254	0.795917	0.29171	N	.	.	.	0.67	0.52187	T	-1.8	0.42384	N	0.607	0.62442	-0.8975	0.48244	T	0.144	0.46750	T	10	0.011454433	0.00250	T	0.021165	0.43897	T	0.068	0.19811	.	.	0.448201132538	0.44443	0.12752885424194546	0.12678	0.307147514716	0.33015	.	.	.	0.09904	0.40346	T	-0.35397	0.04483	T	-0.41208	0.31986	T	0.051745886712187	0.05803	T	0.685431	0.29402	T	0.09563983	0.22512	0.10980131	0.26466	0.09563983	0.22512	0.10980131	0.26466	-2.791	0.08101	T	.	.	0.389	0.61937	A	.;.	.;.	2.656135	0.34597	19.67	0.99049514804746341	0.51207	0.86463	0.45748	D	AEFBI	0.163482	0.28977	N	0.160164419097668	0.49293	3.131429	0.166288745196599	0.48010	3.022984	5.13663875507875E-4	0.07201	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.2	4.04	0.46262	1.378000	0.33935	1.839000	0.29174	0.665000	0.62972	0.932000	0.32345	0.991000	0.31484	0.932000	0.46971	0.0:0.0:0.1589:0.8411	10.797	0.45668	770	0.49152	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1066.98	37	chr11	122956566	.	T	C	1066.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.800e-01;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=1.20;SOR=0.693	GT:AD:DP:GQ:PL	0/1:44,44:88:99:1081,0,1115	20	0	1	0
chr11	130121740	130121745	GAAGAG	-	exonic	APLP2	.	nonframeshift deletion	APLP2:NM_001382542:exon3:c.175_180del:p.E62_E63del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0003	0.0005	0.0001	0.0009	0.0002	0.0011	0.0005	3.84e-05	1	26028	rs760211992	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0001	0.0002	0.0001	0.0002	0.0002	3.826e-05	0.0002	0.0008	0.0007	0.0001	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	9.014e-05	0.0002	0	0.0003	0	0.0002	0.0004	0	0.0001	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2789.94	33	chr11	130121739	.	AGAAGAG	A	2789.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.672;DP=842;ExcessHet=0.0000;FS=0.638;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.51;ReadPosRankSum=-7.920e-01;SOR=0.793	GT:AD:DP:GQ:PL	0/1:64,72:136:99:2804,0,2449	20	0	1	0
chr11	130428225	130428225	-	GCA	exonic	ADAMTS8	.	nonframeshift insertion	ADAMTS8:NM_007037:exon1:c.61_62insTGC:p.L21_P22insL,	.	.	0	41	77	64	44	249	0.714286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	8760.77	19	chr11	130428222	.	GGCA	G,GGCAGCA	8760.77	.	AC=21,6;AF=0.500,0.143;AN=42;BaseQRankSum=0.204;DP=554;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=21,6;MLEAF=0.500,0.143;MQ=60.00;MQRankSum=0.00;QD=28.54;ReadPosRankSum=0.132;SOR=0.702	GT:AD:DP:GQ:PL	0/1:11,11,0:22:99:428,0,403,461,436,898	3	7	5	0
chr12	138550	138550	C	G	exonic;splicing	IQSEC3;LOC574538	NR_033859:exon8:c.2537+1G>C	nonsynonymous SNV	IQSEC3:NM_015232:exon3:c.C278G:p.T93S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.998	D	0.994	D	0.000	D	1.000	D	2.485	M	-1.17	T	0.406	D	0.645	D	0.398	4.286	22.4	4.78	2.209	7.589	17.803	0.500	0.298370546491	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1290137028	6.996e-06	7.524e-06	9.733e-06	4.225e-06	9.065e-06	3.54e-06	2.58e-06	4.58e-06	3.34e-06	0	0	0	0	0	0	9.065e-06	0	0	6.571e-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	0.019	0.50132	D	0.0	0.92824	D	0.997	0.73220	D	0.985	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.595	0.75868	M	-1.17	0.78199	T	-3.36	0.66549	D	0.497	0.53006	0.406	0.89189	D	0.645	0.87626	D	10	0.55541587	0.64489	D	0.298371	0.90799	D	0.500	0.78350	0.261	0.20473	0.760088798417	0.75791	0.8062618573770867	0.80581	1.08749244515	0.77338	0.777657151222	0.78574	T	0.296694	0.66932	T	0.0700392	0.60854	D	-0.13717	0.60363	T	0.966938376426697	0.67744	D	0.940306	0.77472	D	0.41353643	0.61659	0.38249734	0.63235	0.41353643	0.61660	0.38249734	0.63235	-7.938	0.71219	D	.	.	0.431	0.65216	A	.;.	.;.	4.728523	0.76132	26.5	0.99401944886140425	0.62841	0.98575	0.84269	D	AEFDBHCI	.	.	.	0.751098009848651	0.82976	7.897844	0.69406974500556	0.81929	7.642779	0.999999999999985	0.74766	0.582742	0.33608	0	0.547309	0.14657	0	0.61531	0.40942	0	0.542086	0.14980	0	.	.	4.78	4.78	0.60666	7.690000	0.83452	7.468000	0.59122	0.505000	0.23025	1.000000	0.71638	1.000000	0.68203	0.587000	0.31065	0.0:1.0:0.0:0.0	17.803	0.88505	.	.	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	872.98	34	chr12	138550	.	C	G	872.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.650e-01;DP=823;ExcessHet=0.0000;FS=0.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.59;ReadPosRankSum=0.632;SOR=0.804	GT:AD:DP:GQ:PL	0/1:53,38:91:99:887,0,1442	20	0	1	0
chr12	553246	553246	G	C	exonic	B4GALNT3	.	nonsynonymous SNV	B4GALNT3:NM_173593:exon14:c.G1323C:p.E441D,	.	.	427	1038	55	2	0	59	0.0276347	.	.	702400	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.48	T	0.058	B	0.017	B	0.054	N	0.694	D	0.665	N	3.47	T	-1.030	T	0.027	T	0.177	1.279	10.18	1.79	0.130	-0.238	4.755	0.057	.	0.0059	0.00519169	0.0068	0.0022	0.0042	0	0.0005	0.0064	0.0079	0.0191	0.0065458	1012	154602	rs35419938	0.0063	0.0063	0.0059	0.0068	0.0229	0.0062	0.0062	0.0197	0.0185	0.0024	0.0040	0.0172	2.519e-05	0.0005	0.0229	0.0057	0.0076	0.0190	0.0051	0.0051	0.0051	0.0052	0.0174	0.0048	0.0047	0.0144	0.0133	0.0017	0	0.0040	0.0184	0	0.0007	0.0306	0.0069	0.0080	0.0174	0.17	0.28646	T	0.445	0.18449	T	0.001	0.22967	B	0.001	0.18140	B	0.054444	0.22724	N	0.513490	0.694362	0.33358	D	1.965	0.53209	M	3.47	0.33412	T	-0.71	0.20145	N	0.113	0.10056	-1.0298	0.20519	T	0.027	0.11485	T	10	0.003033489	0.00050	T	.	.	.	0.057	0.16321	0.061	0.00225	0.26547132957	0.26150	0.3320672336054664	0.33119	0.137519854837	0.15505	0.303518891335	0.10928	T	0.008035	0.10465	T	-0.55733	0.00263	T	-0.559063	0.16465	T	0.00424846492393013	0.00045	T	0.516848	0.17735	T	0.07017605	0.15436	0.050029136	0.07768	0.07017605	0.15436	0.050029136	0.07767	-4.023	0.24147	T	.	.	0.080	0.11220	B	.;.	.;.	0.637848	0.10061	6.812	0.98851990051414873	0.47305	0.06048	0.12017	N	AEFBI	0.067716	0.13326	N	-0.769882621636174	0.14100	0.6996357	-0.690678665284384	0.17193	0.9131054	0.993072403822061	0.33075	0.695654	0.57023	0	0.475579	0.06741	0	0.723109	0.80598	0	0.63947	0.58350	0	.	.	5.43	1.79	0.23992	0.007000	0.13074	0.008000	0.13396	0.676000	0.76740	0.008000	0.17931	0.003000	0.18671	0.309000	0.24713	0.2545:0.172:0.5735:0.0	4.755	0.12456	804	0.43891	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1481.11	34	chr12	553246	.	G	C	1481.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-7.700e-02;DP=781;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=0.795;SOR=0.721	GT:AD:DP:GQ:PL	0/1:46,25:71:99:688,0,1290	19	0	2	0
chr12	553529	553529	C	T	exonic	B4GALNT3	.	nonsynonymous SNV	B4GALNT3:NM_173593:exon14:c.C1606T:p.H536Y,	.	.	410	1055	55	2	0	59	0.0272015	.	.	702401	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.75	P	0.129	B	0.065	N	1.000	N	0.345	N	3.47	T	-1.005	T	0.025	T	0.284	0.654	7.508	3.57	0.611	2.541	6.671	0.102	.	0.0058	0.00519169	0.0068	0.0022	0.0042	0	0.0005	0.0064	0.0078	0.0191	0.0066429	1027	154602	rs151321644	0.0063	0.0063	0.0059	0.0068	0.0229	0.0062	0.0062	0.0197	0.0185	0.0024	0.0040	0.0172	2.519e-05	0.0005	0.0229	0.0057	0.0076	0.0190	0.0051	0.0051	0.0051	0.0052	0.0172	0.0048	0.0047	0.0142	0.0131	0.0017	0	0.0040	0.0184	0	0.0007	0.0306	0.0068	0.0080	0.0172	0.698	0.07163	T	0.151	0.35205	T	0.002	0.43260	B	0.001	0.32841	B	0.064754	0.02181	N	1.800440	1	0.08975	N	1.355	0.33814	L	3.47	0.32958	T	-1.58	0.42001	N	0.204	0.22614	-1.0050	0.28457	T	0.025	0.10910	T	10	0.0034027994	0.00060	T	.	.	.	0.102	0.29158	.	.	0.33340067248	0.32956	0.23042138291317035	0.22957	0.216515701183	0.24171	0.293155878782	0.09383	T	0.006203	0.17282	T	-0.508331	0.00513	T	-0.488679	0.23528	T	0.0223731037280573	0.00951	T	0.50185	0.15733	T	0.052662954	0.09854	0.04470011	0.05851	0.052662954	0.09853	0.04470011	0.05851	-4.482	0.30652	T	.	.	0.074	0.07650	B	.;.	.;.	2.071965	0.26352	17.09	0.71380471459127814	0.09609	0.41381	0.26644	N	AEFDGBCI	0.100164	0.20147	N	-0.81097235367886	0.13029	0.6390703	-0.773372746637339	0.15149	0.7952879	0.999988630867901	0.51787	0.718356	0.82227	0	0.491552	0.07993	0	0.570548	0.19454	0	0.620976	0.48614	0	.	.	5.47	3.57	0.40014	4.056000	0.57161	3.976000	0.40865	0.580000	0.29708	0.771000	0.29368	0.735000	0.26442	0.002000	0.04165	0.2924:0.6219:0.0:0.0858	6.671	0.22260	804	0.43891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2802.11	40	chr12	553529	.	C	T	2802.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.290e-01;DP=1182;ExcessHet=0.1072;FS=0.512;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=1.37;SOR=0.633	GT:AD:DP:GQ:PL	0/1:61,59:120:99:1555,0,1556	19	0	2	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.418	B	0.122	B	0.121	N	1.000	N	1.7	L	-0.07	T	-0.998	T	0.134	T	0.063	0.770	8.072	-2.7	-0.238	-0.480	5.450	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4286	4735.5	83	chr12	4591261	.	G	C	4735.5	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-2.041e+00;DP=1832;ExcessHet=30.0624;FS=292.214;InbreedingCoeff=-0.7498;MLEAC=18;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=3.39;ReadPosRankSum=0.900;SOR=12.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,41:111:99:.:.:384,0,839	3	0	18	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	1/2:0,6,66,0,0:72:30:2773,2526,2584,238,0,30,2775,2569,239,2805,2775,2569,239,2805,2805	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	1/2:0,6,66,0,0:72:30:2773,2526,2584,238,0,30,2775,2569,239,2805,2775,2569,239,2805,2805	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	1/2:0,6,66,0,0:72:30:2773,2526,2584,238,0,30,2775,2569,239,2805,2775,2569,239,2805,2805	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	1/2:0,6,66,0,0:72:30:2773,2526,2584,238,0,30,2775,2569,239,2805,2775,2569,239,2805,2805	0	0	0	0
chr12	6850587	6850587	A	G	exonic	CDCA3	.	nonsynonymous SNV	CDCA3:NM_001297602:exon3:c.T130C:p.S44P	.	.	416	1046	57	3	0	63	0.0292343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.335	B	0.114	B	0.005	N	0.999	D	2.175	M	.	.	-0.727	T	0.186	T	0.692	4.507	24.2	5.7	2.172	4.142	8.525	0.154	.	0.0011	0.00239617	0.0042	0.0004	0.0040	0.0001	0	0.0011	0.0066	0.0231	0.003564	551	154602	rs150858074	0.0018	0.0019	0.0012	0.0025	0.0224	0.0018	0.0018	0.0216	0.0212	8.961e-05	0.0018	0.0013	2.519e-05	3.744e-05	0.0097	0.0004	0.0022	0.0224	0.0012	0.0012	0.0009	0.0015	0.0208	0.0010	0.0010	0.0175	0.0163	7.249e-05	0	0.0004	0.0020	0	9.468e-05	0.0034	0.0008	0.0009	0.0208	0.003	0.68238	D	0.005	0.72224	D	0.335	0.33330	B	0.114	0.31755	B	0.004789	0.33389	N	0.293987	0.986275	0.45182	D	2.455	0.71248	M	.	.	.	-1.81	0.57762	N	0.459	0.54496	-0.7274	0.59094	T	0.186	0.53586	T	9	0.006612748	0.00150	T	.	.	.	0.154	0.40340	.	.	0.431952752558	0.42816	0.45802854476548793	0.45720	0.78041944085	0.65269	0.532909572124	0.43444	T	0.193662	0.54920	T	-0.18533	0.22947	T	-0.021404	0.68936	D	0.0810008470602898	0.10115	T	0.793221	0.43505	T	0.46215984	0.64805	0.5441816	0.73653	0.46215984	0.64806	0.5441816	0.73653	-3.572	0.17453	T	.	.	0.448	0.62097	A	.;.;.;.;.	.;.;.;.;.	4.573058	0.72174	25.8	0.99826152259785705	0.90852	0.90070	0.50964	D	AEFDGBCI	0.816385	0.73813	D	0.245040344701089	0.53393	3.508432	0.361695448431946	0.59215	4.097542	0.999999923949678	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.7	5.7	0.88690	4.046000	0.57088	9.183000	0.79090	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9142:0.0:0.0858:0.0	8.525	0.32460	564	0.70960	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.04762	1881.11	34	chr12	6850587	.	A	G	1881.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.189;DP=873;ExcessHet=0.1072;FS=2.020;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=-2.600e-01;SOR=0.888	GT:AD:DP:GQ:PL	0/1:52,45:97:99:1083,0,1454	19	0	2	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	1/2:0,43,32,0,0,0,0:75:99:.:.:2839,1147,976,1552,0,1470,2781,1137,1561,2756,2781,1137,1561,2756,2756,2781,1137,1561,2756,2756,2756,2781,1137,1561,2756,2756,2756,2756	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	1/2:0,43,32,0,0,0,0:75:99:.:.:2839,1147,976,1552,0,1470,2781,1137,1561,2756,2781,1137,1561,2756,2756,2781,1137,1561,2756,2756,2756,2781,1137,1561,2756,2756,2756,2756	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	1/2:0,43,32,0,0,0,0:75:99:.:.:2839,1147,976,1552,0,1470,2781,1137,1561,2756,2781,1137,1561,2756,2756,2781,1137,1561,2756,2756,2756,2781,1137,1561,2756,2756,2756,2756	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	1/2:0,43,32,0,0,0,0:75:99:.:.:2839,1147,976,1552,0,1470,2781,1137,1561,2756,2781,1137,1561,2756,2756,2781,1137,1561,2756,2756,2756,2781,1137,1561,2756,2756,2756,2756	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	1/2:0,43,32,0,0,0,0:75:99:.:.:2839,1147,976,1552,0,1470,2781,1137,1561,2756,2781,1137,1561,2756,2756,2781,1137,1561,2756,2756,2756,2781,1137,1561,2756,2756,2756,2756	1	0	2	0
chr12	7130691	7130691	G	T	exonic	CLSTN3	.	nonsynonymous SNV	CLSTN3:NM_014718:exon1:c.G43T:p.A15S,	.	.	423	1033	61	5	0	71	0.0332241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.001	B	0.002	B	0.548	N	1.000	D	0.345	N	2.12	T	-1.068	T	0.021	T	0.166	0.113	4.610	2.93	0.442	0.642	6.560	0.021	.	0.0036	0.00658946	0.0098	0.0103	0.0129	0	0	0.0058	0.0121	0.0176	0.0033182	513	154602	rs145190321	0.0031	0.0031	0.0027	0.0036	0.0178	0.0030	0.0030	0.0148	0.0142	0.0076	0.0043	0.0093	0.0001	0.0002	0.0178	0.0019	0.0055	0.0152	0.0044	0.0044	0.0046	0.0042	0.0143	0.0041	0.0040	0.0116	0.0106	0.0080	0.0011	0.0049	0.0095	0.0002	0.0002	0.0204	0.0020	0.0057	0.0143	0.442	0.10148	T	0.415	0.14326	T	0.001	0.07471	B	0.002	0.06944	B	0.548015	0.11466	N	0.788204	1	0.08975	N	-0.895	0.01383	N	2.12	0.19726	T	0.07	0.07736	N	0.139	0.13769	-1.0680	0.09858	T	0.021	0.08778	T	10	0.0030443072	0.00050	T	.	.	.	0.021	0.04004	.	.	0.281547015583	0.27767	0.35854401661910473	0.35768	0.288253582573	0.31233	0.356690347195	0.18903	T	0.008913	0.23664	T	-0.598821	0.00148	T	-0.620618	0.11137	T	0.00108617581757987	0.00010	T	0.331367	0.07351	T	0.055753954	0.10880	0.04894971	0.07378	0.055753954	0.10879	0.04894971	0.07378	-3.093	0.11216	T	.	.	0.066	0.03887	B	.;.	.;.	0.665902	0.10342	7.072	0.62287856607396397	0.06924	0.12591	0.17362	N	AEFDGBCI	0.044641	0.07208	N	-1.19660380079444	0.05051	0.2293829	-1.15269521724595	0.06719	0.3243835	0.999999929559777	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	4.77	2.93	0.33092	0.670000	0.24838	1.292000	0.25419	-0.941000	0.02090	0.027000	0.20232	0.033000	0.21346	0.022000	0.11911	0.0:0.7049:0.193:0.1021	6.560	0.21676	668	0.61153	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	826.98	37	chr12	7130691	.	G	T	826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=-1.746e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:36,32:68:99:841,0,858	20	0	1	0
chr12	8921664	8921664	A	G	exonic	PHC1	.	nonsynonymous SNV	PHC1:NM_004426:exon5:c.A370G:p.S124G,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.94	P	0.632	P	0.000	D	1.000	D	0.6	N	1.7	T	-1.098	T	0.070	T	0.315	1.853	12.16	4.44	0.932	4.959	11.711	0.066	0.0129697258355	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320499058	2.053e-06	2.052e-06	1.362e-06	2.751e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	3.83e-05	0	0	0.0002	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.68238	D	0.023	0.60337	D	0.94	0.52768	P	0.615	0.51231	P	0.000005	0.62929	D	0.063942	0.531671	0.81001	D	1.65	0.42232	L	1.67	0.27331	T	-2.2	0.51319	N	0.443	0.48780	-1.0978	0.04367	T	0.070	0.28708	T	10	0.18797031	0.34332	T	0.01297	0.31999	T	0.066	0.19193	0.158	0.06178	0.43774664317	0.43397	0.5001573753818467	0.49936	1.42764072559	0.85742	0.547503232956	0.45505	T	0.023885	0.42494	T	-0.111792	0.34472	T	-0.398358	0.33576	T	0.75799435377121	0.43737	D	0.80142	0.44736	T	0.25954664	0.49008	0.23064631	0.48173	0.25954664	0.49008	0.23064631	0.48172	-4.602	0.32197	T	.	.	0.061	0.24633	B	.;.;.;.;.;.	.;.;.;.;.;.	3.273612	0.44819	22.0	0.98505843128685866	0.42276	0.88212	0.48039	D	AEFDBI	0.387739	0.46761	N	0.284941684189727	0.55385	3.702562	0.343002609666838	0.58089	3.977326	0.997381212408987	0.35561	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.59	4.44	0.53164	4.575000	0.60619	7.122000	0.57598	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.8674:0.0:0.0:0.1326	11.711	0.50890	629	0.65079	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1948.98	46	chr12	8921664	.	A	G	1948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.252;DP=1010;ExcessHet=0.0000;FS=3.519;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.97;MQRankSum=0.114;QD=11.33;ReadPosRankSum=-4.650e-01;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,80:172:99:0|1:8921663_C_T:1963,0,2321:8921663	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	0/1:160,22,0:182:99:197,0,5165,678,5230,5908	4	3	11	0
chr12	11267818	11267818	G	T	exonic	PRB3	.	nonsynonymous SNV	PRB3:NM_006249:exon3:c.C431A:p.P144Q,	.	.	723	790	7	0	2	9	0.00441084	.	.	2334745	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.998	D	0.887	P	0.186	U	1.000	N	.	.	3.03	T	-1.062	T	0.042	T	0.339	-0.899	0.440	0.143	0.065	-0.229	6.372	0.061	0.00114189385537	.	.	.	.	.	.	.	.	.	.	.	.	.	rs11054208	0.0080	0.0073	0.0083	0.0077	0.0095	0.0077	0.0076	0.0084	0.0082	0.0007	0.0033	0.0100	0.0043	0.0193	0.0095	0.0087	0.0076	0.0009	0.0049	0.0018	0.0049	0.0049	0.0075	0.0036	0.0031	0.0051	0.0044	0.0006	0	0.0015	0.0098	0.0058	0.0084	0	0.0075	0	0	.	.	.	0.006	0.76473	D	.	.	.	.	.	.	0.185600	0.16985	U	0.256476	0.999919	0.19599	N	.	.	.	3.03	0.09356	T	-1.08	0.28084	N	0.217	0.24260	-1.0624	0.11166	T	0.042	0.17910	T	9	0.0096514225	0.00217	T	0.001142	0.01410	T	0.061	0.17616	.	.	0.0482279557977	0.04254	0.2715663832854014	0.27069	0.308967699888	0.33215	0.349918544292	0.17909	T	0.078379	0.35877	T	-0.451337	0.01109	T	-0.426949	0.30281	T	0.515472710132599	0.33199	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.03964	B	.;.	.;.	-0.501618	0.01862	0.151	0.15388392824923505	0.00375	0.01705	0.05419	N	AEFBI	0.045288	0.07390	N	-0.835986777763414	0.12398	0.6040622	-1.1021909902097	0.07658	0.3733841	1.25647785645013E-5	0.02871	0.074636	0.01641	0	0.063388	0.01293	0	0.078618	0.02440	0	0.058706	0.01089	0	.	.	1.08	0.143	0.14116	0.003000	0.12984	-3.644000	0.02635	-4.013000	0.00047	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.7069:0.2931	6.372	0.20691	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	0.02381	134.98	42	chr12	11267818	.	G	T	134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.248;DP=1017;ExcessHet=0.0000;FS=8.169;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=29.51;MQRankSum=-2.127e+00;QD=3.29;ReadPosRankSum=-2.021e+00;SOR=2.194	GT:AD:DP:GQ:PL	0/1:31,10:41:99:149,0,739	20	0	1	0
chr12	11353413	11353413	G	0	exonic	PRB1	.	.	.	.	.	776	281	207	230	28	695	0.542718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6944	47416.68	201	chr12	11353413	.	G	A,*	47416.68	.	AC=22,3;AF=0.611,0.083;AN=36;BaseQRankSum=1.23;DP=4494;ExcessHet=0.6840;FS=7.239;InbreedingCoeff=0.1429;MLEAC=25,3;MLEAF=0.694,0.083;MQ=49.32;MQRankSum=0.484;QD=21.62;ReadPosRankSum=0.236;SOR=1.326	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,111,0:113:99:1|1:11353413_G_A:4065,291,0,4071,331,4111:11353413	2	8	6	3
chr12	11353469	11353469	A	0	exonic	PRB1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8214	21751.81	201	chr12	11353469	.	A	G,*	21751.81	.	AC=20,3;AF=0.714,0.107;AN=28;BaseQRankSum=1.20;DP=4073;ExcessHet=0.2102;FS=5.613;InbreedingCoeff=0.1459;MLEAC=26,4;MLEAF=0.929,0.143;MQ=51.75;MQRankSum=-5.705e+00;QD=18.93;ReadPosRankSum=-1.910e+00;SOR=1.241	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,53,0:53:99:1|1:11353413_G_A:2324,159,0,2324,159,2324:11353413	0	8	4	7
chr12	11393447	11393447	T	G	exonic	PRB1;PRB2	.	nonsynonymous SNV	PRB1:NM_001367912:exon3:c.A631C:p.K211Q	.	.	640	879	1	0	2	3	0.000568505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.938	P	0.261	B	0.085	N	1.000	N	-0.6	N	3.63	T	-0.985	T	0.006	T	0.16	-0.279	2.662	.	0.149	-2.591	.	0.040	0.00438014170682	0.0021	.	0.0027	0.0004	0.0036	0	0.0038	0.0036	0.0012	7.867e-05	3.84e-05	1	26028	rs201455726	0.0033	0.0029	0.0034	0.0033	0.0037	0.0032	0.0032	0.0036	0.0036	0.0003	0.0025	0.0018	0.0001	0.0052	0.0037	0.0037	0.0033	2.832e-05	0.0030	0.0023	0.0031	0.0029	0.0050	0.0026	0.0024	0.0034	0.0028	0.0008	0	0.0050	0.0009	0.0010	0.0032	0	0.0036	0.0036	0.0014	.	.	.	0.651	0.06713	T	.	.	.	.	.	.	0.085243	0.02397	N	3.389640	1	0.08975	N	.	.	.	3.63	0.04353	T	0.09	0.05917	N	0.095	0.07535	-0.9849	0.33856	T	0.006	0.02055	T	8	0.0073294938	0.00167	T	0.00438	0.10687	T	0.040	0.10527	.	.	0.0401082797425	0.02173	0.07957911752622204	0.07892	0.0701758770016	0.07856	.	.	.	.	.	.	-0.654091	0.00068	T	-0.714122	0.05085	T	0.00657906044498946	0.00074	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.20157	B	.	.	-0.812920	0.01082	0.048	0.8978738288858088	0.19100	0.00282	0.01521	N	AEFBI	0.023052	0.01233	N	-1.03262680737093	0.07932	0.3702259	-1.16788802482514	0.06453	0.3106525	1.67353462662097E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	.	.	.	-2.604000	0.00964	-8.793000	0.00913	-2.417000	0.00290	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	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	2005.98	39	chr12	11393447	.	T	G	2005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.530e+00;DP=3927;ExcessHet=0.0000;FS=1.239;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.08;MQRankSum=4.06;QD=4.94;ReadPosRankSum=-3.240e-01;SOR=0.588	GT:AD:DP:GQ:PL	0/1:294,112:406:99:2020,0,5525	20	0	1	0
chr12	12477735	12477735	C	0	exonic	DUSP16	.	.	.	.	.	435	893	140	11	43	205	0.0831622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	734.67	33	chr12	12477735	.	C	T,*	734.67	.	AC=1,4;AF=0.025,0.100;AN=40;BaseQRankSum=3.48;DP=1239;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1507;MLEAC=1,4;MLEAF=0.025,0.100;MQ=60.00;MQRankSum=0.00;QD=1.62;ReadPosRankSum=-1.694e+00;SOR=0.736	GT:AD:DP:GQ:PL	0/2:52,0,60:112:99:1647,1804,3957,0,2154,1973	15	0	1	1
chr12	14424331	14424331	T	G	exonic	ATF7IP	.	nonsynonymous SNV	ATF7IP:NM_001286514:exon2:c.T416G:p.L139R	.	.	428	1093	1	0	0	1	0.000457247	.	.	753265	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.95	P	0.735	P	0.055	N	1.000	N	1.61	L	2.11	T	-1.077	T	0.078	T	0.45	2.931	15.77	2.14	0.324	0.624	6.618	0.044	0.0139356066482	7.7e-05	0.000998403	0.0009	0	0.0002	0	0	0.0004	0.0011	0.0044	0.000718	111	154602	rs200853057	0.0004	0.0004	0.0002	0.0005	0.0041	0.0003	0.0003	0.0038	0.0036	0	0.0003	0.0014	0	0	0.0007	0.0001	0.0002	0.0041	0.0002	0.0002	0.0002	0.0003	0.0041	0.0002	0.0001	0.0027	0.0023	0	0	0.0001	0.0009	0	0	0	0.0001	0.0009	0.0041	0.02	0.51853	D	0.09	0.40267	T	0.184	0.53885	B	0.08	0.54226	B	0.054767	0.22697	N	0.232210	1	0.08975	N	1.1	0.28011	L	2.06	0.25841	T	-0.43	0.38734	N	0.214	0.55713	-1.0768	0.07983	T	0.078	0.31224	T	10	0.0038289428	0.00072	T	0.013936	0.33715	T	0.044	0.11924	.	.	0.189391138174	0.18552	0.07848003749467096	0.07783	0.720120029527	0.62163	0.36142039299	0.19593	T	0.012936	0.18124	T	-0.467259	0.00884	T	-0.443969	0.28364	T	0.0310960948408317	0.02161	T	0.69643	0.31676	T	0.17173077	0.37823	0.10193949	0.24417	0.17173077	0.37823	0.10193949	0.24416	-7.036	0.54325	T	.	.	0.090	0.13456	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.199451	0.28050	17.67	0.99210803677966208	0.55594	0.20814	0.21178	N	AEFBI	0.088177	0.17876	N	-0.486386770105196	0.22526	1.203425	-0.633049650873174	0.18647	0.9970122	0.779452210344289	0.23814	0.722319	0.85440	0	0.702456	0.74545	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	4.54	2.14	0.26518	0.078000	0.14615	0.273000	0.16680	0.651000	0.53179	0.000000	0.06391	0.036000	0.21445	0.026000	0.12556	0.0:0.2986:0.0:0.7014	6.618	0.21980	889	0.27310	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2395.98	34	chr12	14424331	.	T	G	2395.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.746e+00;DP=888;ExcessHet=0.0000;FS=0.540;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=-2.060e-01;SOR=0.770	GT:AD:DP:GQ:PL	0/1:90,96:186:99:2410,0,2457	20	0	1	0
chr12	14921024	14921024	C	G	exonic	ERP27	.	nonsynonymous SNV	ERP27:NM_001300784:exon2:c.G55C:p.E19Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.072	B	0.069	B	0.910	N	1.000	N	0.345	N	1.51	T	-0.970	T	0.040	T	0.162	2.100	12.98	0.662	0.234	0.484	6.572	0.032	0.00804180504808	.	.	8.243e-06	0	0	0	0	1.5e-05	0	0	3.84e-05	1	26028	rs757588305	4.105e-06	4.104e-06	5.446e-06	2.75e-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	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.18061	T	0.226	0.33000	T	0.072	0.23997	B	0.069	0.27757	B	0.910261	0.08557	N	0.960797	1	0.08975	N	2.085	0.57729	M	1.51	0.30937	T	-1.16	0.29727	N	0.223	0.25006	-0.9699	0.37220	T	0.040	0.17149	T	10	0.060632378	0.07479	T	0.008042	0.21316	T	0.032	0.07718	0.398	0.42590	0.391156786388	0.38726	0.36941352166306285	0.36855	0.0550186943767	0.06094	0.292922198772	0.09350	T	0.021515	0.16743	T	-0.248249	0.14313	T	-0.578883	0.14644	T	0.0552339509389173	0.06396	T	0.724828	0.33863	T	0.21790765	0.44285	0.07376174	0.16063	0.21790765	0.44285	0.07376174	0.16063	-4.93	0.36071	T	.	.	0.089	0.11989	B	.;.	.;.	2.382453	0.30587	18.48	0.93416377688427488	0.23182	0.18337	0.20219	N	AEFDGI	0.097001	0.19573	N	-0.854585097835784	0.11938	0.5789531	-0.813328160053019	0.14173	0.7391855	0.997390201558221	0.35572	0.554377	0.28877	0	0.601575	0.49859	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.71	0.662	0.17049	0.389000	0.20478	1.133000	0.24342	0.599000	0.40250	0.681000	0.28448	0.958000	0.29226	0.774000	0.36673	0.0:0.574:0.0:0.426	6.572	0.21741	639	0.64210	.;.	.	.	.	.	.	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	1686.98	36	chr12	14921024	.	C	G	1686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.270e-01;DP=912;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=-5.140e-01;SOR=0.644	GT:AD:DP:GQ:PL	0/1:72,70:142:99:1701,0,1785	20	0	1	0
chr12	18081418	18081418	G	A	exonic	RERGL	.	stopgain	RERGL:NM_001286201:exon5:c.C388T:p.R130X	.	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.646	25.5	-2.84	-0.275	0.213	10.209	.	.	0.0008	.	0.0011	0.0005	0	0.0001	0	0.0016	0.0022	0.0008	0.0011643	180	154602	rs73063263	0.0016	0.0016	0.0016	0.0015	0.0019	0.0015	0.0015	0.0018	0.0018	0.0004	6.708e-05	0	2.519e-05	0.0003	0.0003	0.0019	0.0008	0.0010	0.0009	0.0009	0.0010	0.0007	0.0016	0.0008	0.0007	0.0013	0.0012	0.0005	0	0	0	0	0.0002	0	0.0016	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.24	0.27077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228168	0.76548	D	0.551606	0.95683	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	6.521790	0.95345	34	0.98929694493280473	0.48713	0.67251	0.33365	D	AEFI	0.295076	0.40528	N	-0.00302644330928675	0.41719	2.500429	-0.280442050904326	0.28742	1.604954	2.68543704864855E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.74	-2.84	0.05408	0.234000	0.17708	0.805000	0.21696	-0.251000	0.07141	0.847000	0.30396	0.426000	0.24831	0.909000	0.44452	0.0729:0.0:0.3074:0.6197	10.209	0.42303	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2785.98	35	chr12	18081418	.	G	A	2785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=987;ExcessHet=0.0000;FS=1.822;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.66;ReadPosRankSum=0.908;SOR=0.856	GT:AD:DP:GQ:PL	0/1:87,103:190:99:2800,0,1994	20	0	1	0
chr12	20898457	20898457	A	C	exonic	SLCO1B3;SLCO1B3-SLCO1B7	.	nonsynonymous SNV	SLCO1B3:NM_001349920:exon12:c.A1620C:p.K540N	.	.	157	1363	1	1	0	3	0.0010993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.51	H	0.4	T	-0.463	T	0.368	T	0.605	1.836	12.10	1.3	0.152	1.797	5.198	0.514	0.0474487694611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.382e-06	1.368e-06	1.377e-06	1.387e-06	1.171e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	0	1.171e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.999	0.77913	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.718923	0.81001	N	3.97	0.96570	H	0.4	0.57261	T	-4.65	0.79482	D	0.844	0.85238	-0.4629	0.69971	T	0.368	0.72834	T	10	0.9073566	0.90100	D	0.047449	0.62924	D	0.514	0.79217	0.816	0.93060	0.69386598177	0.69122	0.6905444331653552	0.68994	0.0336777075547	0.03534	0.64228951931	0.58889	T	0.55794	0.85151	D	0.0440602	0.57576	T	-0.174487	0.57031	T	0.998690187931061	0.94887	D	0.926707	0.88196	D	0.9306576	0.94303	0.8559582	0.91904	0.9306576	0.94303	0.8559582	0.91905	-9.349	0.69915	D	0.8096833774966365	0.88489	0.977	0.91639	P	.;.;.;.	.;.;.;.	3.360882	0.46396	22.3	0.99812210446243466	0.89620	0.74860	0.36632	D	AEFI	0.516106	0.54278	D	0.329862364295253	0.57687	3.937045	0.122124374230197	0.45684	2.82712	1.10150989297692E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.7	1.3	0.20778	1.583000	0.36188	0.281000	0.16766	0.665000	0.62972	1.000000	0.71638	0.365000	0.24540	0.833000	0.39279	0.7478:0.0:0.2522:0.0	5.198	0.14573	864	0.32732	Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	820.98	34	chr12	20898457	.	A	C	820.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.252e+00;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.83;ReadPosRankSum=1.36;SOR=0.648	GT:AD:DP:GQ:PL	0/1:52,41:93:99:835,0,1291	20	0	1	0
chr12	32796167	32796167	G	T	exonic	PKP2	.	nonsynonymous SNV	PKP2:NM_001005242:exon11:c.C2299A:p.R767S	Arrhythmogenic right ventricular dysplasia 9, Autosomal dominant	.	2	1503	15	2	0	19	0.00628099	.	.	54235	Familial_isolated_arrhythmogenic_right_ventricular_dysplasia|Arrhythmogenic_right_ventricular_dysplasia_9|not_specified|PKP2-related_disorder|not_provided|Long_QT_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy|Cardiomyopathy|Cardiovascular_phenotype	MONDO:MONDO:0016342,MedGen:C4274968,OMIM:PS107970,Orphanet:217656|MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.434	B	0.219	B	0.004	N	1.000	D	2.585	M	0.78	T	-0.636	T	0.201	T	0.85	3.477	17.80	5.06	2.508	3.303	17.583	0.257	0.0993497817025	0.0004	0.000599042	0.0009	9.61e-05	0.0010	0	0	0.0012	0.0066	0.0006	0.000815	126	154602	rs139734328	0.0009	0.0009	0.0008	0.0009	0.0073	0.0008	0.0008	0.0055	0.0049	0.0002	0.0008	0.0088	0	5.616e-05	0.0073	0.0007	0.0014	0.0006	0.0007	0.0007	0.0009	0.0006	0.0009	0.0006	0.0006	0.0007	0.0006	0.0001	0	0.0009	0.0081	0	0	0.0068	0.0008	0.0024	0.0008	0.008	0.63226	D	0.024	0.58089	D	0.267	0.35666	B	0.219	0.37734	B	0.003870	0.34390	N	0.241969	0.999853	0.49910	D	2.98	0.85499	M	0.78	0.49358	T	-3.22	0.64939	D	0.807	0.80278	-0.6358	0.63324	T	0.201	0.55794	T	10	0.020314664	0.00466	T	0.09935	0.77093	D	0.257	0.56827	.	.	0.727649319239	0.72523	0.5871319377748647	0.58643	0.537282136197	0.51035	0.515904903412	0.41050	T	0.573089	0.85897	D	-0.098817	0.36622	T	0.0232861	0.71843	D	0.0884483553174462	0.11032	T	0.786621	0.44603	T	0.34008333	0.56286	0.30969483	0.56983	0.39117417	0.60116	0.28971195	0.54991	-7.296	0.56167	T	0.4663457836462882	0.54761	0.482	0.67744	A	.;.	.;.	3.374374	0.46641	22.3	0.99531087898468584	0.69901	0.81649	0.41011	D	AEFGBI	0.714945	0.66726	D	0.238149991971774	0.53055	3.476272	0.304818569648226	0.55822	3.745053	0.99977898604337	0.42865	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.06	5.06	0.67838	3.692000	0.54460	6.332000	0.55462	0.671000	0.69459	0.919000	0.31930	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	17.583	0.87871	714	0.56256	.;.	.	.	.	.	.	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	3508.11	35	chr12	32796167	.	G	T	3508.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.47;DP=1068;ExcessHet=0.1072;FS=0.911;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=1.27;SOR=0.663	GT:AD:DP:GQ:PL	0/1:71,82:153:99:1989,0,1558	19	0	2	0
chr12	33406850	33406850	A	G	exonic	SYT10	.	nonsynonymous SNV	SYT10:NM_198992:exon3:c.T1016C:p.F339S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.141	B	0.155	B	0.001	U	1.000	D	1.7	L	0.82	T	-0.922	T	0.143	T	0.871	4.228	22.0	4.73	2.056	8.943	14.102	0.383	0.00515483998122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.073	0.43159	T	0.141	0.27581	B	0.155	0.34417	B	0.000661	0.42516	U	0.000000	0.999998	0.58761	D	1.905	0.50856	L	0.82	0.48142	T	-3.75	0.71157	D	0.735	0.73555	-0.9216	0.45334	T	0.143	0.46404	T	10	0.81537676	0.80782	D	0.005155	0.13094	T	0.383	0.70029	0.704	0.84054	0.631006925375	0.62798	0.625804982376794	0.62513	0.869581675858	0.69348	0.638534784317	0.58356	T	0.545282	0.84504	D	0.196855	0.73598	D	0.0449926	0.73254	D	0.988740742206573	0.79039	D	0.825917	0.48908	T	0.38063535	0.59363	0.43536723	0.67025	0.38063535	0.59363	0.43536723	0.67025	-13.058	0.89601	D	.	.	0.711	0.73409	P	.	.	4.300127	0.65647	24.9	0.99883845278458794	0.95970	0.98473	0.83148	D	AEFGI	0.932134	0.92203	D	0.188164757938704	0.50632	3.251241	0.316852220466317	0.56530	3.816414	0.997298611019804	0.35467	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.73	4.73	0.59485	8.984000	0.93044	11.003000	0.84787	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.102	0.64593	906	0.23090	C2 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	1381.98	33	chr12	33406850	.	A	G	1381.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.770e-01;DP=809;ExcessHet=0.0000;FS=0.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=0.753;SOR=0.558	GT:AD:DP:GQ:PL	0/1:55,55:110:99:1396,0,1440	20	0	1	0
chr12	38320549	38320549	T	G	exonic	ALG10B	.	nonsynonymous SNV	ALG10B:NM_001013620:exon3:c.T758G:p.L253W,	.	.	0	1474	48	0	0	48	0.0160214	.	.	2806854	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.71	P	0.225	B	0.065	N	1.000	N	2.445	M	1.42	T	-1.040	T	0.055	T	0.481	-0.287	2.629	2.07	0.619	3.292	6.788	0.185	0.00770233636556	0.0040	0.00179712	0.0042	0.0007	0.0064	0	0.0017	0.0052	0.0077	0.0042	0.003868	598	154602	rs140475027	0.0040	0.0040	0.0038	0.0041	0.0362	0.0039	0.0038	0.0322	0.0307	0.0008	0.0059	0.0070	2.52e-05	0.0013	0.0362	0.0039	0.0051	0.0041	0.0035	0.0035	0.0034	0.0036	0.0068	0.0032	0.0031	0.0057	0.0053	0.0007	0	0.0068	0.0058	0	0.0014	0.0340	0.0048	0.0062	0.0031	0.003	0.68238	D	0.026	0.55759	D	0.71	0.42074	P	0.225	0.38015	B	0.064624	0.21939	N	0.451949	0.999998	0.08975	N	2.575	0.75298	M	1.42	0.33189	T	-2.09	0.47683	N	0.552	0.57775	-1.0403	0.17223	T	0.055	0.23110	T	10	0.011118591	0.00244	T	0.007702	0.20431	T	0.185	0.45933	.	.	0.39724302092	0.39341	0.6957569625041998	0.69516	0.346047988278	0.36510	0.411681234837	0.26689	T	0.010982	0.09859	T	-0.398708	0.02361	T	-0.341488	0.40176	T	0.0361847429335446	0.03013	T	0.777622	0.41060	T	0.48294085	0.66078	0.5278043	0.72718	0.48294085	0.66079	0.5278043	0.72719	-6.486	0.50178	T	.	.	0.171	0.37577	B	.	.	2.245438	0.28674	17.88	0.74873181228380092	0.10859	0.92126	0.55002	D	AEFGI	0.296366	0.40623	N	-0.170831569317233	0.34354	1.959765	-0.300225260857327	0.28091	1.563584	8.2712102038478E-5	0.04703	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	3.23	2.07	0.26004	3.378000	0.52164	4.034000	0.41364	0.552000	0.28158	0.974000	0.34632	1.000000	0.68203	0.735000	0.35267	0.0:0.1196:0.0:0.8803	6.788	0.22866	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	0.02381	3538.98	33	chr12	38320549	.	T	G	3538.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.720e-01;DP=1130;ExcessHet=0.0000;FS=0.897;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.64;MQRankSum=0.095;QD=12.29;ReadPosRankSum=1.67;SOR=0.777	GT:AD:DP:GQ:PL	0/1:143,145:288:99:3553,0,3614	20	0	1	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.374	B	0.326	B	0.000	D	1.000	D	0.86	L	-0.89	T	-0.602	T	0.322	T	0.754	2.842	15.47	5.39	2.533	4.151	19.172	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4412	2610.12	56	chr12	39764776	.	G	C,A	2610.12	.	AC=14,1;AF=0.412,0.029;AN=34;BaseQRankSum=-6.850e-01;DP=1247;ExcessHet=23.1855;FS=336.411;InbreedingCoeff=-0.6462;MLEAC=16,1;MLEAF=0.471,0.029;MQ=60.00;MQRankSum=0.00;QD=2.73;ReadPosRankSum=0.591;SOR=12.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,43,9:103:99:.:.:479,0,660,536,719,1299	2	0	14	4
chr12	39764776	39764776	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528T:p.L510F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.722	P	0.519	P	0.000	D	1.000	D	1.98	M	-0.99	T	-0.129	T	0.446	T	0.785	3.086	16.31	5.39	2.533	4.151	19.172	0.489	0.0629985215375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.18956	T	0.227	0.25362	T	0.722	0.42387	P	0.519	0.48163	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.99	0.75911	T	-1.75	0.41428	N	0.71	0.71321	-0.1290	0.79425	T	0.446	0.78221	T	10	0.69258845	0.71947	D	0.062999	0.68831	D	0.489	0.77656	0.527	0.63263	0.644369250691	0.64143	0.8989563015606465	0.89867	0.486330154237	0.47495	0.655019402504	0.60698	T	0.25826	0.62940	T	0.186182	0.72612	D	0.0296617	0.72257	D	0.980596303939819	0.73444	D	0.89551	0.63622	D	0.35904205	0.57762	0.30843896	0.56862	0.35904205	0.57763	0.30843896	0.56861	-11.185	0.80663	D	.	.	0.171	0.37633	B	.	.	4.277361	0.65129	24.8	0.99608861495682466	0.74694	0.91321	0.53298	D	AEFCI	0.719950	0.67067	D	0.487429499125516	0.66355	4.939395	0.535340465806759	0.70385	5.49735	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4412	2610.12	56	chr12	39764776	.	G	C,A	2610.12	.	AC=14,1;AF=0.412,0.029;AN=34;BaseQRankSum=-6.850e-01;DP=1247;ExcessHet=23.1855;FS=336.411;InbreedingCoeff=-0.6462;MLEAC=16,1;MLEAF=0.471,0.029;MQ=60.00;MQRankSum=0.00;QD=2.73;ReadPosRankSum=0.591;SOR=12.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,43,9:103:99:.:.:479,0,660,536,719,1299	2	0	14	4
chr12	40482890	40482890	T	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	33722.39	1039	chr12	40482890	.	T	A,*	33722.39	.	AC=5,6;AF=0.208,0.250;AN=24;BaseQRankSum=0.827;DP=22349;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.5849;MLEAC=7,8;MLEAF=0.292,0.333;MQ=57.60;MQRankSum=-2.364e+01;QD=2.90;ReadPosRankSum=3.73;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:897,436,0:1333:99:0|1:40482890_T_A:14206,0,34339,17063,34881,52347:40482890	1	0	5	9
chr12	40482938	40482938	C	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	12831.45	1036	chr12	40482938	.	C	T,*	12831.45	.	AC=5,1;AF=0.156,0.031;AN=32;BaseQRankSum=1.18;DP=20058;ExcessHet=1.7912;FS=0.805;InbreedingCoeff=-0.2537;MLEAC=6,1;MLEAF=0.188,0.031;MQ=58.43;MQRankSum=-2.514e+01;QD=1.97;ReadPosRankSum=-3.109e+00;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:965,271,0:1236:99:.:.:8443,0,39411,11366,40323,51998	10	0	5	5
chr12	40482955	40482955	A	0	exonic	MUC19	.	.	.	.	.	0	184	40	0	2	42	0.0980392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	8116.75	1036	chr12	40482955	.	A	G,*	8116.75	.	AC=4,1;AF=0.133,0.033;AN=30;BaseQRankSum=1.89;DP=20287;ExcessHet=1.1607;FS=1.921;InbreedingCoeff=-0.2353;MLEAC=5,1;MLEAF=0.167,0.033;MQ=58.54;MQRankSum=-2.480e+01;QD=1.41;ReadPosRankSum=-6.790e+00;SOR=0.820	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1079,236,0:1315:99:0|1:40482955_A_G:6602,0,43463,7938,43106,50452:40482955	10	0	4	6
chr12	40482969	40482969	G	0	exonic	MUC19	.	.	.	.	.	574	886	55	0	7	62	0.030104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	7015.48	1036	chr12	40482969	.	G	A,*	7015.48	.	AC=1,1;AF=0.033,0.033;AN=30;BaseQRankSum=4.01;DP=19695;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.1355;MLEAC=1,1;MLEAF=0.033,0.033;MQ=57.84;MQRankSum=-2.493e+01;QD=3.11;ReadPosRankSum=-6.896e+00;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:947,238,0:1185:99:.:.:7027,0,26594,8075,29139,42522	13	0	1	6
chr12	40482976	40482983	GGAGAGAC	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	5218.48	1036	chr12	40482975	.	TGGAGAGAC	T	5218.48	.	AC=1;AF=0.029;AN=34;BaseQRankSum=3.28;DP=19409;ExcessHet=0.0000;FS=8.092;InbreedingCoeff=-0.0769;MLEAC=1;MLEAF=0.029;MQ=57.79;MQRankSum=-2.882e+01;QD=3.95;ReadPosRankSum=-1.138e+01;SOR=1.647	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1116,206:1322:99:0|1:40482955_A_G:5231,0,45106:40482955	16	0	1	4
chr12	40482986	40482986	-	GT	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	241.11	1036	chr12	40482986	.	G	GGT,*	241.11	.	AC=1,1;AF=0.028,0.028;AN=36;BaseQRankSum=5.40;DP=19249;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0909;MLEAC=1,1;MLEAF=0.028,0.028;MQ=58.21;MQRankSum=-2.735e+01;QD=0.10;ReadPosRankSum=-8.651e+00;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1060,83,0:1143:99:0|1:40482955_A_G:254,0,43181,3649,42555,47143:40482955	16	0	1	3
chr12	40482986	40482986	G	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	241.11	1036	chr12	40482986	.	G	GGT,*	241.11	.	AC=1,1;AF=0.028,0.028;AN=36;BaseQRankSum=5.40;DP=19249;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0909;MLEAC=1,1;MLEAF=0.028,0.028;MQ=58.21;MQRankSum=-2.735e+01;QD=0.10;ReadPosRankSum=-8.651e+00;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1060,83,0:1143:99:0|1:40482955_A_G:254,0,43181,3649,42555,47143:40482955	16	0	1	3
chr12	40482991	40482994	ACTG	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1611.11	1036	chr12	40482990	.	AACTG	A,*	1611.11	.	AC=1,1;AF=0.028,0.028;AN=36;BaseQRankSum=9.31;DP=19232;ExcessHet=0.1072;FS=0.939;InbreedingCoeff=-0.0909;MLEAC=1,1;MLEAF=0.028,0.028;MQ=58.56;MQRankSum=-2.870e+01;QD=0.69;ReadPosRankSum=-8.296e+00;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1078,117,0:1195:99:0|1:40482955_A_G:1624,0,43782,3725,43066,46395:40482955	16	0	1	3
chr12	40482990	40482994	AACTG	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1611.11	1036	chr12	40482990	.	AACTG	A,*	1611.11	.	AC=1,1;AF=0.028,0.028;AN=36;BaseQRankSum=9.31;DP=19232;ExcessHet=0.1072;FS=0.939;InbreedingCoeff=-0.0909;MLEAC=1,1;MLEAF=0.028,0.028;MQ=58.56;MQRankSum=-2.870e+01;QD=0.69;ReadPosRankSum=-8.296e+00;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1078,117,0:1195:99:0|1:40482955_A_G:1624,0,43782,3725,43066,46395:40482955	16	0	1	3
chr12	40482997	40483006	CTATCACCTG	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1147.11	1036	chr12	40482996	.	ACTATCACCTG	A,*	1147.11	.	AC=1,1;AF=0.028,0.028;AN=36;BaseQRankSum=10.49;DP=19149;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0909;MLEAC=1,1;MLEAF=0.028,0.028;MQ=58.62;MQRankSum=-2.957e+01;QD=0.51;ReadPosRankSum=-8.542e+00;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1094,107,0:1201:99:0|1:40482955_A_G:1160,0,44484,3405,43738,46762:40482955	16	0	1	3
chr12	40482996	40483006	ACTATCACCTG	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1147.11	1036	chr12	40482996	.	ACTATCACCTG	A,*	1147.11	.	AC=1,1;AF=0.028,0.028;AN=36;BaseQRankSum=10.49;DP=19149;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0909;MLEAC=1,1;MLEAF=0.028,0.028;MQ=58.62;MQRankSum=-2.957e+01;QD=0.51;ReadPosRankSum=-8.542e+00;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1094,107,0:1201:99:0|1:40482955_A_G:1160,0,44484,3405,43738,46762:40482955	16	0	1	3
chr12	40483011	40483050	GACAAGGACAACAAGATCATCAGCTGGGCTAACAGGGAAA	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	284.97	1036	chr12	40483010	.	TGACAAGGACAACAAGATCATCAGCTGGGCTAACAGGGAAA	T	284.97	.	AC=1;AF=0.031;AN=32;BaseQRankSum=4.33;DP=19262;ExcessHet=0.0000;FS=15.362;InbreedingCoeff=-0.0909;MLEAC=1;MLEAF=0.031;MQ=58.83;MQRankSum=-3.365e+01;QD=0.21;ReadPosRankSum=-7.785e+00;SOR=4.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1283,100:1383:99:0|1:40482955_A_G:297,0,52441:40482955	15	0	1	5
chr12	40483015	40483015	A	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	481509.55	1118	chr12	40483015	.	A	G,*	481509.55	.	AC=32,2;AF=0.762,0.048;AN=42;BaseQRankSum=-3.082e+00;DP=19979;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=32,2;MLEAF=0.762,0.048;MQ=59.68;MQRankSum=0.00;QD=26.76;ReadPosRankSum=0.264;SOR=0.666	GT:AD:DP:GQ:PL	1/2:0,909,225:1134:99:30893,4022,1293,28845,0,39216	1	12	6	0
chr12	40483053	40483053	A	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	982.58	934	chr12	40483053	.	A	*,T	982.58	.	AC=1,1;AF=0.029,0.029;AN=34;BaseQRankSum=1.58;DP=18262;ExcessHet=0.1072;FS=0.764;InbreedingCoeff=-0.1053;MLEAC=1,1;MLEAF=0.029,0.029;MQ=58.64;MQRankSum=-1.637e+01;QD=0.45;ReadPosRankSum=-1.192e+01;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:925,136,37:1098:99:.:.:995,1111,39451,0,37968,38258	15	0	1	4
chr12	40483053	40483053	A	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00279553	0	0	.	.	.	0	.	.	0.0007684	20	26028	rs111971648	0.0002	0.0001	0.0003	0.0002	0.0103	0.0002	0.0002	0.0090	0.0085	0.0103	0	0	0	0	0	9.282e-06	0.0009	0	0.0028	0.0029	0.0029	0.0027	0.0098	0.0026	0.0025	0.0090	0.0087	0.0098	0	0.0011	0	0	0	0	0	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05882	982.58	934	chr12	40483053	.	A	*,T	982.58	.	AC=1,1;AF=0.029,0.029;AN=34;BaseQRankSum=1.58;DP=18262;ExcessHet=0.1072;FS=0.764;InbreedingCoeff=-0.1053;MLEAC=1,1;MLEAF=0.029,0.029;MQ=58.64;MQRankSum=-1.637e+01;QD=0.45;ReadPosRankSum=-1.192e+01;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:925,136,37:1098:99:.:.:995,1111,39451,0,37968,38258	15	0	1	4
chr12	40483068	40483068	G	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	356058.34	934	chr12	40483068	.	G	A,*	356058.34	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=2.01;DP=18690;ExcessHet=0.1361;FS=0.637;InbreedingCoeff=0.2741;MLEAC=26,1;MLEAF=0.619,0.024;MQ=59.71;MQRankSum=0.00;QD=24.52;ReadPosRankSum=0.509;SOR=0.620	GT:AD:DP:GQ:PL	0/1:14,886,136:1036:99:27155,0,153,28312,229,36628	4	9	7	0
chr12	40484956	40484956	A	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	538	969	13	2	0	17	0.00869565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0613173428163	.	0.000798722	0	0	.	0	.	0	.	.	0.0008068	21	26028	rs577746929	0.0004	0.0003	0.0005	0.0004	0.0198	0.0004	0.0004	0.0144	0.0126	0.0013	0.0030	0.0031	0	0	0.0198	0.0004	0.0011	0.0002	0.0010	0.0010	0.0009	0.0011	0.0031	0.0009	0.0008	0.0024	0.0021	0.0002	0	0.0031	0.0043	0	0.0006	0.0476	0.0008	0.0028	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	10875.98	968	chr12	40484956	.	A	T	10875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.037;DP=18037;ExcessHet=0.0000;FS=0.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=0.00;QD=11.72;ReadPosRankSum=-1.418e+00;SOR=0.772	GT:AD:DP:GQ:PL	0/1:509,419:928:99:10890,0,13998	20	0	1	0
chr12	40486514	40486514	G	0	exonic	MUC19	.	.	.	.	.	645	616	122	2	137	263	0.0927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	22747.23	860	chr12	40486514	.	G	A,*	22747.23	.	AC=7,2;AF=0.350,0.100;AN=20;BaseQRankSum=1.88;DP=22874;ExcessHet=4.7172;FS=5.882;InbreedingCoeff=-0.5273;MLEAC=11,3;MLEAF=0.550,0.150;MQ=58.09;MQRankSum=0.489;QD=2.52;ReadPosRankSum=-6.295e+00;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:678,164,0:842:99:.:.:2440,0,27367,4480,27859,32339	1	0	7	11
chr12	40487030	40487030	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	632	869	15	1	5	22	0.00968661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs570638522	0.0029	0.0017	0.0029	0.0030	0.0094	0.0028	0.0028	0.0082	0.0078	0.0002	0	0.0075	0	0	0.0051	0.0028	0.0035	0.0094	0.0020	0.0020	0.0019	0.0021	0.0068	0.0018	0.0017	0.0050	0.0044	0.0004	0	0.0016	0.0092	0.0002	0.0010	0	0.0027	0.0014	0.0068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	12462.33	862	chr12	40487030	.	G	A	12462.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.940e-01;DP=22079;ExcessHet=0.0000;FS=0.519;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=59.92;MQRankSum=-3.700e-02;QD=13.05;ReadPosRankSum=-9.070e-01;SOR=0.762	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:490,465:955:99:0|1:40487029_A_T:12476,0,13460:40487029	19	0	1	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	0/2:1010,0,34,2:1046:99:.:.:4841,1784,43754,0,41899,41780,5265,42855,42178,47373	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	0/2:1010,0,34,2:1046:99:.:.:4841,1784,43754,0,41899,41780,5265,42855,42178,47373	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	0/2:994,3,34:1031:99:.:.:5167,535,40924,0,40417,40455	3	0	6	3
chr12	40488224	40488224	A	0	exonic	MUC19	.	.	.	.	.	25	95	24	1	81	107	0.12037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	211896.28	821	chr12	40488224	.	A	G,T,*	211896.28	.	AC=18,2,2;AF=0.500,0.056,0.056;AN=36;BaseQRankSum=0.772;DP=14066;ExcessHet=0.3330;FS=0.000;InbreedingCoeff=0.0926;MLEAC=20,2,2;MLEAF=0.556,0.056,0.056;MQ=59.12;MQRankSum=0.00;QD=20.60;ReadPosRankSum=1.34;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,503,0,0:503:99:1|1:40488224_A_G:20341,1511,0,20341,1511,20341,20341,1511,20341,20341:40488224	3	6	5	3
chr12	40488858	40488858	C	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	573	912	7	23	7	60	0.0282365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1374519651	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0009	0.0096	0.0010	0.0008	0.0014	0.0008	0.0007	0.0009	0.0007	0.0005	0	0.0014	0.0007	0.0008	0.0028	0	0.0009	0.0006	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	363.7	977	chr12	40488858	.	C	A	363.7	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-3.580e-01;DP=14254;ExcessHet=0.0000;FS=3.658;InbreedingCoeff=0.0979;MLEAC=1;MLEAF=0.029;MQ=59.69;MQRankSum=-7.452e+00;QD=0.72;ReadPosRankSum=-6.786e+00;SOR=1.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:461,42:503:99:0|1:40488776_T_G:376,0,19231:40488776	16	0	1	4
chr12	40488861	40488861	G	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	581	906	7	23	5	58	0.0284182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs1475609431	0	5.431e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0063	0.0006	0.0005	0.0008	0.0004	0.0004	0.0004	0.0003	0.0003	0	0.0008	0.0003	0.0005	0.0019	0	0.0005	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02778	72.12	977	chr12	40488861	.	G	C	72.12	.	AC=1;AF=0.028;AN=36;BaseQRankSum=3.00;DP=14208;ExcessHet=0.0000;FS=3.932;InbreedingCoeff=0.1576;MLEAC=1;MLEAF=0.028;MQ=59.69;MQRankSum=-8.176e+00;QD=0.15;ReadPosRankSum=-6.537e+00;SOR=1.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:460,35:495:85:0|1:40488776_T_G:85,0,19210:40488776	17	0	1	3
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|1:225,17:242:37:0|1:40510979_A_G:37,0,9376:40510979	19	0	2	0
chr12	43746128	43746128	A	G	exonic	PUS7L	.	nonsynonymous SNV	PUS7L:NM_001271826:exon3:c.T242C:p.I81T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	1.000	D	3.53	H	1.17	T	-0.347	T	0.290	T	0.857	3.562	18.16	3.27	0.772	8.139	11.604	0.486	0.0335361802919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.355e-07	1.37e-06	0	1.467e-06	9.781e-07	0	0	.	.	0	0	0	0	0	0	9.781e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.76473	D	1.0	0.90584	D	0.994	0.82059	D	0.000006	0.62929	D	0.062767	0.999943	0.51968	D	3.85	0.95769	H	1.17	0.37910	T	-3.77	0.76015	D	0.841	0.83678	-0.3475	0.73625	T	0.290	0.66201	T	10	0.7665334	0.76748	D	0.033536	0.55052	D	0.486	0.77464	0.643	0.78010	0.696135561912	0.69351	0.7996230344568083	0.79916	0.255294500027	0.28121	0.582639575005	0.50456	T	0.329056	0.76274	T	0.255004	0.79067	D	0.128519	0.78795	D	0.997077107429504	0.90711	D	0.935206	0.79272	D	0.73733515	0.80140	0.6028011	0.76918	0.73733515	0.80142	0.6028011	0.76919	-12.279	0.86183	D	.	.	0.611	0.75962	P	.;.;.;.;.;.	.;.;.;.;.;.	4.827780	0.78691	27.0	0.99853728980085743	0.93279	0.99631	0.98164	D	AEFGBI	0.874101	0.79681	D	0.704603909924195	0.79934	7.183929	0.561902850990633	0.72228	5.777059	0.876561792474474	0.25528	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.655142	0.61905	0	.	.	4.45	3.27	0.36580	8.097000	0.89373	10.569000	0.83441	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.8504:0.1496:0.0:0.0	11.604	0.50279	608	0.67185	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1114.98	34	chr12	43746128	.	A	G	1114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.510e-01;DP=804;ExcessHet=0.0000;FS=5.209;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=0.023;SOR=0.780	GT:AD:DP:GQ:PL	0/1:44,50:94:99:1129,0,1021	20	0	1	0
chr12	51706661	51706661	G	C	exonic	SCN8A	.	nonsynonymous SNV	SCN8A:NM_001177984:exon11:c.G1581C:p.K527N	Epileptic encephalopathy, early infantile, 13, Autosomal dominant;Seizures, benign familial infantile, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.928	P	0.503	P	0.000	D	0.817	N	1.76	L	-2.82	D	0.033	D	0.626	D	0.12	2.608	14.68	2.46	0.518	0.299	7.062	0.252	0.0719142025239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	3.968e-05	1.38e-06	1.404e-06	3.092e-05	2.3e-07	9e-08	.	.	3.092e-05	0	0	0	0	0	9.097e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.223	0.33109	T	0.431	0.35606	B	0.315	0.41566	B	0.000179	0.48594	D	0.184301	0.816986	0.28930	N	2.195	0.61839	M	-2.82	0.91192	D	-2.89	0.62747	D	0.442	0.53445	0.033	0.82901	D	0.626	0.86854	D	10	0.24059924	0.41222	T	0.071914	0.71394	D	0.252	0.56159	0.33	0.31519	0.902646408154	0.90167	0.5674523308067984	0.56673	1.41807407564	0.85568	0.605724453926	0.53712	T	0.703665	0.91489	D	-0.0247068	0.48179	T	-0.273266	0.47488	T	0.927446901798248	0.59031	D	0.789921	0.45664	T	0.2993846	0.52850	0.29699904	0.55732	0.2993846	0.52850	0.29699904	0.55732	-3.007	0.12177	T	.	.	0.476	0.68156	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.650273	0.34508	19.65	0.9983572789978995	0.91714	0.18883	0.20441	N	AEFBI	0.095722	0.19336	N	-0.290515847983622	0.29512	1.637351	-0.293922467393298	0.28298	1.576831	0.186781275037378	0.17948	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.41	2.46	0.29032	0.104000	0.15148	1.189000	0.24752	0.676000	0.76740	0.600000	0.27747	1.000000	0.68203	0.996000	0.76049	0.4379:0.0:0.5621:0.0	7.062	0.24310	579	0.69780	Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;.;.;.;.;Voltage-gated Na+ ion channel, cytoplasmic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2647	805.0	65	chr12	51706661	.	G	C	805.0	.	AC=9;AF=0.265;AN=34;BaseQRankSum=-2.321e+00;DP=1362;ExcessHet=4.7172;FS=136.953;InbreedingCoeff=-0.3697;MLEAC=10;MLEAF=0.294;MQ=60.00;MQRankSum=0.00;QD=1.42;ReadPosRankSum=1.14;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,19:71:24:.:.:24,0,843	8	0	9	4
chr12	52316946	52316946	C	T	exonic	KRT83	.	nonsynonymous SNV	KRT83:NM_002282:exon5:c.G828A:p.M276I,	.	.	0	1516	6	0	0	6	0.00197498	.	.	870094	Beaded_hair	Human_Phenotype_Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000,Orphanet:573	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.639	P	0.619	P	0.000	U	0.992	D	2.135	M	-2.39	D	0.688	D	0.743	D	0.416	4.124	21.3	3.9	1.894	3.074	16.246	0.606	0.0200738903503	.	.	0.0002	0	8.637e-05	0	0	0.0001	0	0.0012	0.0002005	31	154602	rs200274404	0.0002	0.0002	0.0001	0.0002	0.0035	0.0001	0.0001	0.0023	0.0019	0	2.236e-05	0	0	0	0.0035	6.924e-05	0.0004	0.0011	7.886e-05	7.88e-05	7.708e-05	8.072e-05	0.0008	4.497e-05	3.513e-05	0.0003	0.0002	0	0	0	0	0	0	0	0.0001	0	0.0008	0.005	0.63226	D	0.019	0.59159	D	0.639	0.40375	P	0.619	0.51356	P	0.000122	0.49741	U	0.000000	0.992474	0.41655	D	.	.	.	-2.39	0.88377	D	-1.94	0.45042	N	0.591	0.61087	0.688	0.93024	D	0.743	0.91224	D	10	0.33498412	0.50663	T	0.020074	0.42586	T	0.606	0.84506	0.59	0.71874	0.803666485082	0.80183	0.11303868258792882	0.11231	0.102096443084	0.11564	0.419970810413	0.27832	T	0.298602	0.67116	T	-0.188667	0.22454	T	-0.100132	0.63388	T	0.155461536979989	0.17530	T	0.739226	0.35772	T	0.52518207	0.68556	0.4589961	0.68570	0.52518207	0.68557	0.4589961	0.68570	-7.451	0.57265	T	0.3354444221350273	0.43337	0.656	0.71148	P	.	.	4.090573	0.60914	24.3	0.99716115820298912	0.81703	0.93871	0.59432	D	AEFDGBI	0.625727	0.60881	D	0.344888932570587	0.58469	4.019445	0.333507281184009	0.57519	3.917973	0.999999947589538	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.9	3.9	0.44240	3.888000	0.55917	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	16.246	0.82269	717	0.55835	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4065.98	39	chr12	52316946	.	C	T	4065.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.889e+00;DP=2286;ExcessHet=0.0000;FS=5.367;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.94;MQRankSum=-1.970e-01;QD=10.96;ReadPosRankSum=0.790;SOR=0.947	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:211,160:371:99:0|1:52316931_G_A:4080,0,5894:52316931	20	0	1	0
chr12	52403762	52403762	G	A	exonic	KRT82	.	nonsynonymous SNV	KRT82:NM_033033:exon2:c.C559T:p.R187C,	.	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.803	P	0.153	N	0.996	N	3.06	M	-2.71	D	0.420	D	0.837	D	0.313	3.169	16.60	5.21	2.595	0.721	14.030	0.350	0.0245991884365	.	.	0.0002	0	8.66e-05	0	0	9.113e-05	0	0.0010	0.0001617	25	154602	rs200534923	0.0001	0.0001	0.0001	0.0002	0.0033	0.0001	0.0001	0.0022	0.0018	2.987e-05	2.236e-05	0	0	1.898e-05	0.0033	6.385e-05	0.0004	0.0010	4.601e-05	4.597e-05	3.855e-05	5.383e-05	0.0006	2.11e-05	1.527e-05	0.0002	9.007e-05	0	0	0	0	0	0	0	5.881e-05	0	0.0006	0.003	0.68238	D	0.0	0.92824	D	0.999	0.77913	D	0.803	0.58300	P	0.153204	0.17899	N	0.468598	0.995549	0.23263	N	3.225	0.89467	M	-2.71	0.90566	D	-3.52	0.68412	D	0.468	0.50418	0.420	0.89400	D	0.837	0.94553	D	10	0.29122502	0.46702	T	0.024599	0.47587	T	0.350	0.67142	.	.	0.784076694291	0.78207	0.4598166585064107	0.45899	0.350133243854	0.36858	0.321816921234	0.13697	T	0.599649	0.87150	D	-0.212387	0.19043	T	-0.142611	0.59892	T	0.268712860659491	0.23692	T	0.980902	0.93438	D	0.21049656	0.43348	0.3022708	0.56259	0.21049656	0.43348	0.3022708	0.56258	-8.813	0.66485	D	.	.	0.148	0.32589	B	.	.	4.066812	0.60390	24.2	0.99901829112285012	0.97350	0.51087	0.28814	D	AEFDBI	0.451174	0.50526	N	0.212462700071643	0.51802	3.358754	0.0299101940547441	0.41112	2.464435	0.999998096691471	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.21	5.21	0.72005	2.764000	0.47295	.	.	0.676000	0.76740	0.199000	0.24297	1.000000	0.68203	0.029000	0.12982	0.0:0.0:0.8488:0.1512	14.030	0.64125	773	0.48803	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1962.98	33	chr12	52403762	.	G	A	1962.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.46;DP=849;ExcessHet=0.0000;FS=2.870;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=1.66;SOR=0.825	GT:AD:DP:GQ:PL	0/1:75,77:152:99:1977,0,1690	20	0	1	0
chr12	52949315	52949315	G	C	exonic	KRT18	.	nonsynonymous SNV	KRT18:NM_000224:exon1:c.G142C:p.V48L	Cirrhosis, cryptogenic, Autosomal recessive	.	400	768	347	0	7	354	0.18428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.65	P	0.223	B	0.138	N	1.000	N	2.865	M	-1.57	D	-0.406	T	0.471	T	0.427	2.081	12.91	0.954	0.219	-0.441	7.665	0.446	0.210614070419	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1359140246	6.957e-07	0.0003	0	1.399e-06	3.037e-05	0	0	.	.	3.037e-05	0	0	0	0	0	0	0	0	0.0011	0.0092	0.0010	0.0012	0.0024	0.0010	0.0009	0.0013	0.0012	0.0003	0.0024	0.0008	0.0021	0	0.0016	0	0.0015	0.0016	0.0024	0.187	0.21385	T	0.404	0.14818	T	0.519	0.40644	P	0.111	0.37929	B	0.138376	0.18380	N	0.416972	1	0.81001	D	2.265	0.64440	M	-1.57	0.82347	D	-1.0	0.26422	N	0.082	0.05799	-0.4056	0.71850	T	0.471	0.79663	T	10	0.083414674	0.13874	T	0.210614	0.87261	D	0.446	0.74797	0.415	0.45380	0.860313002099	0.85896	0.7160274570190178	0.71545	0.531599379089	0.50652	0.573910236359	0.49230	T	0.147259	0.48525	T	0.0174853	0.54042	T	-0.21266	0.53441	T	0.265387445688248	0.23549	T	0.0516948	0.00385	T	0.047216356	0.08035	0.043877922	0.05557	0.047216356	0.08035	0.043877922	0.05557	-4.986	0.36687	T	0.2609872102591527	0.35238	0.319	0.56786	B	.;.;.	.;.;.	0.909457	0.12836	9.352	0.95101178256288821	0.26176	0.54699	0.29680	D	AEFDBHCI	0.804658	0.72946	D	-0.508296202011104	0.21811	1.160241	-0.604811601927955	0.19369	1.038886	0.999992841170832	0.74766	0.733237	0.96898	0	0.609123	0.50646	0	0.600757	0.32118	0	0.638787	0.57140	0	.	.	3.79	0.954	0.18719	-0.106000	0.10860	.	.	-0.227000	0.07798	0.000000	0.06391	0.005000	0.19230	0.311000	0.24761	0.3008:0.0:0.6992:0.0	7.665	0.27595	769	0.49307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	15089.32	89	chr12	52949315	.	G	A,C	15089.32	.	AC=20,1;AF=0.476,0.024;AN=42;BaseQRankSum=1.47;DP=1835;ExcessHet=54.0936;FS=3.984;InbreedingCoeff=-1.0000;MLEAC=20,1;MLEAF=0.476,0.024;MQ=56.35;MQRankSum=-9.015e+00;QD=8.31;ReadPosRankSum=-4.930e-01;SOR=1.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,24,0:118:99:0|1:52949249_G_A:725,0,3875,1008,3947,4955:52949249	0	0	20	0
chr12	53715311	53715311	C	A	exonic	CALCOCO1	.	nonsynonymous SNV	CALCOCO1:NM_001143682:exon9:c.G1020T:p.K340N	.	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.997	D	0.933	D	0.000	D	0.992	D	1.385	L	2.72	T	-1.137	T	0.061	T	0.291	4.164	21.5	3.75	1.507	1.402	11.178	0.161	.	0.0003	0.00239617	0.0012	9.61e-05	8.637e-05	0	0.0002	0.0003	0	0.0074	0.0010543	163	154602	rs138639329	0.0006	0.0006	0.0004	0.0008	0.0068	0.0006	0.0005	0.0064	0.0062	2.987e-05	8.945e-05	0	0	5.617e-05	0.0005	0.0002	0.0008	0.0068	0.0004	0.0004	0.0002	0.0006	0.0081	0.0003	0.0003	0.0061	0.0054	0.0001	0	0	0	0	9.427e-05	0	0.0002	0.0005	0.0081	0.003	0.68238	D	0.02	0.60972	D	0.996	0.70673	D	0.844	0.64103	P	0.000265	0.46590	D	0.000000	0.991978	0.41522	D	1.845	0.48678	L	2.72	0.11947	T	-1.2	0.36586	N	0.628	0.68429	-1.1367	0.01486	T	0.061	0.25528	T	10	0.010277927	0.00229	T	.	.	.	0.161	0.41658	0.581	0.70733	0.37097340754	0.36704	0.11217164448708446	0.11146	0.788710189345	0.65656	0.581704974174	0.50325	T	0.071352	0.34187	T	-0.505322	0.00533	T	-0.49533	0.22834	T	0.099006343742257	0.12247	T	0.824018	0.49290	T	0.17581764	0.38461	0.17718714	0.40303	0.17581764	0.38461	0.17718714	0.40303	-3.548	0.19910	T	.	.	0.637	0.72450	P	.;.;.;.	.;.;.;.	3.979291	0.58488	24.0	0.99861222774499336	0.94002	0.89470	0.49955	D	AEFGBI	0.226731	0.35063	N	0.42573491334846	0.62840	4.507	0.417007424112581	0.62624	4.480974	0.0986843380557129	0.16311	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.58	3.75	0.42236	1.602000	0.36393	0.536000	0.19291	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.999000	0.91618	0.0:0.8472:0.0:0.1528	11.178	0.47839	162	0.93704	.;.;.;Calcium binding and coiled-coil domain-like	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1664.98	34	chr12	53715311	.	C	A	1664.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.255e+00;DP=837;ExcessHet=0.0000;FS=2.242;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=0.257;SOR=0.481	GT:AD:DP:GQ:PL	0/1:68,68:136:99:1679,0,1822	20	0	1	0
chr12	55427175	55427175	-	A	exonic	OR6C76	.	frameshift insertion	OR6C76:NM_001005183:exon1:c.922dupA:p.H312Tfs*2,	.	.	20	137	43	12	14	81	0.196481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3673.16	49	chr12	55427174	.	CA	C,CAA	3673.16	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=0.114;DP=906;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3243;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=0.243;SOR=0.727	GT:AD:DP:GQ:PL	0/1:28,21,0:49:99:437,0,570,520,634,1154	11	0	9	0
chr12	55957979	55957979	C	T	exonic	PMEL	.	nonsynonymous SNV	PMEL:NM_001200053:exon3:c.G317A:p.R106Q	.	.	424	1090	8	0	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.58	M	2.72	T	-0.889	T	0.125	T	0.592	4.618	25.2	3.79	1.578	5.241	12.611	0.167	0.0652782221712	7.7e-05	0.000199681	0.0001	9.647e-05	0.0002	0	0	0.0002	0	0	0.0001164	18	154602	rs145035997	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	0.0001	0.0001	0.0001	0	2.236e-05	0	0.0002	0	0.0005	0.0001	0.0002	1.159e-05	0.0001	0.0001	0.0001	9.397e-05	0.0002	7.085e-05	5.743e-05	0.0001	8.876e-05	0	0	0.0001	0	0	0	0	0.0002	0.0009	0	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.92359	D	0.000225	0.47286	D	0.000000	0.999999	0.81001	D	3.4	0.91674	M	2.68	0.12371	T	-3.37	0.68178	D	0.835	0.83066	-0.8895	0.48978	T	0.125	0.43008	T	10	0.28418022	0.46000	T	0.065278	0.69532	D	0.167	0.42761	.	.	0.480423546575	0.47670	0.7678465789982415	0.76733	0.608496289833	0.55620	0.425891876221	0.28647	T	0.891851	0.97809	D	-0.256949	0.13260	T	-0.306542	0.44030	T	0.460363361940641	0.31178	T	0.910909	0.68443	D	0.3089729	0.53697	0.20714337	0.44960	0.3089729	0.53697	0.20714337	0.44959	-8.851	0.66733	D	.	.	0.200	0.42419	B	.;.;.;.;.;.	.;.;.;.;.;.	4.606478	0.73013	25.9	0.99952666886942998	0.99957	0.94315	0.60775	D	AEFDBCI	0.911270	0.87031	D	0.640384151175964	0.75749	6.361097	0.546680438849553	0.71165	5.613715	0.999999356639955	0.74766	0.631515	0.41029	0	0.588066	0.40923	0	0.697927	0.64325	0	0.586402	0.36253	0	.	.	4.68	3.79	0.42757	5.525000	0.66826	.	.	-0.173000	0.11020	1.000000	0.71638	1.000000	0.68203	0.058000	0.15825	0.0:0.9169:0.0:0.0831	12.611	0.55906	724	0.55085	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1777.98	37	chr12	55957979	.	C	T	1777.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.31;DP=852;ExcessHet=0.0000;FS=2.848;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=1.36;SOR=0.835	GT:AD:DP:GQ:PL	0/1:82,70:152:99:1792,0,1967	20	0	1	0
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	0/1:76,20:96:39:.:.:39,0,1827	11	0	10	0
chr12	56721031	56721031	C	G	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001113203:exon3:c.G499C:p.A167P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.015	B	0.005	B	.	.	1.000	N	0	N	1.43	T	-1.022	T	0.032	T	0.129	1.221	9.954	-2.4	-0.681	-0.585	4.287	0.011	0.0122087104916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.192	0.28300	T	0.015	0.17086	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.43	0.32958	T	-0.53	0.16393	N	0.16	0.16725	-1.0224	0.22932	T	0.032	0.13942	T	9	0.062142044	0.07900	T	0.012209	0.30578	T	0.011	0.01250	0.227	0.15257	0.0666544352282	0.05500	0.13072603400018834	0.12997	0.0227308519102	0.02294	0.337338030338	0.16039	T	0.102353	0.40998	T	-0.270853	0.11661	T	-0.626838	0.10655	T	0.148695288746189	0.16999	T	0.518348	0.16810	T	0.18994507	0.40558	0.21309198	0.45805	0.18994507	0.40557	0.21309198	0.45804	-3.233	0.12888	T	.	.	0.162	0.35808	B	.;.	.;.	1.709626	0.21770	15.34	0.71801763015562914	0.09753	0.06540	0.12552	N	AEFDBHCIJ	0.087124	0.17666	N	-1.20560106798946	0.04917	0.2229764	-1.25410473190558	0.05071	0.2407426	0.9999604563335	0.48965	0.489673	0.17934	0	0.516746	0.08562	0	0.633826	0.45126	0	0.662433	0.64102	0	.	.	3.51	-2.4	0.06204	-0.433000	0.07017	-0.879000	0.07072	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.375000	0.26223	0.0:0.3501:0.1755:0.4744	4.287	0.10306	45	0.97767	.;.	.	.	.	.	.	Uncertain significance	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	1486.98	47	chr12	56721031	.	C	G	1486.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.363e+00;DP=1023;ExcessHet=0.0000;FS=1.506;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=1.76;SOR=0.859	GT:AD:DP:GQ:PL	0/1:58,54:112:99:1501,0,1657	20	0	1	0
chr12	56739298	56739298	T	C	exonic	PRIM1	.	nonsynonymous SNV	PRIM1:NM_000946:exon10:c.A1048G:p.I350V,	.	.	440	1071	9	2	0	13	0.00603248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.001	B	0.007	B	0.000	D	1.000	D	0.395	N	1.09	T	-1.088	T	0.053	T	0.151	2.434	14.10	2.93	0.731	5.215	8.585	0.060	0.0059539928516	0.0004	.	0.0009	0	0.0010	0	0	0.0009	0.0024	0.0016	0.000401	62	154602	rs201583406	0.0003	0.0004	0.0003	0.0004	0.0032	0.0003	0.0003	0.0021	0.0017	3.052e-05	0.0001	0.0040	0	0	0.0032	0.0002	0.0008	0.0015	0.0003	0.0003	0.0003	0.0004	0.0004	0.0003	0.0002	0.0002	0.0002	2.405e-05	0	0.0002	0.0063	0	0	0	0.0003	0.0009	0.0004	0.086	0.39820	T	0.092	0.39954	T	0.001	0.07471	B	0.007	0.12992	B	0.000000	0.84330	D	0.000000	0.999968	0.52935	D	1.32	0.33002	L	1.09	0.39223	T	-0.76	0.21215	N	0.185	0.20129	-1.0877	0.05925	T	0.053	0.22307	T	10	0.009432167	0.00213	T	0.005954	0.15520	T	0.060	0.17295	.	.	0.336892272479	0.33291	0.28160541232501524	0.28073	0.323358209769	0.34506	0.508899211884	0.40067	T	0.002296	0.08679	T	-0.46843	0.00869	T	-0.470271	0.25488	T	0.0452666306562524	0.04650	T	0.763424	0.39166	T	0.24007037	0.46906	0.08327896	0.19073	0.24007037	0.46906	0.08327896	0.19073	-5.048	0.37357	T	.	.	0.107	0.25034	B	.;.	.;.	2.330624	0.29851	18.26	0.99119884377103118	0.52958	0.97970	0.78525	D	AEFBI	0.611154	0.59971	D	-0.445035459416136	0.23908	1.287257	-0.269884634788263	0.29096	1.627403	0.00570766438607379	0.11019	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.08	2.93	0.33092	5.111000	0.64468	2.191000	0.31208	-0.142000	0.12367	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0949:0.0:0.9051	8.585	0.32814	50	0.97644	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1408.98	33	chr12	56739298	.	T	C	1408.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.129;DP=842;ExcessHet=0.0000;FS=2.226;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.84;ReadPosRankSum=0.331;SOR=0.914	GT:AD:DP:GQ:PL	0/1:68,62:130:99:1423,0,1571	20	0	1	0
chr12	57470538	57470538	G	T	exonic	GLI1	.	nonsynonymous SNV	GLI1:NM_001160045:exon10:c.G1414T:p.G472C	.	.	410	1109	3	0	0	3	0.00135074	.	.	2807141	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.958	D	0.65	P	0.006	N	0.998	D	2.03	M	2.47	T	-1.124	T	0.058	T	0.445	2.398	13.98	0.809	0.158	2.744	7.992	0.094	0.0143965354228	0.0002	.	0.0002	0	0	0	0	0.0002	0	0.0007	0.0001552	24	154602	rs147997893	0.0002	0.0002	0.0002	0.0002	0.0029	0.0002	0.0002	0.0019	0.0015	5.974e-05	0.0001	0.0001	0	0	0.0029	0.0001	0.0004	0.0012	9.849e-05	9.842e-05	0.0001	9.4e-05	0.0015	6.002e-05	4.877e-05	0.0007	0.0005	0	0	0	0	0	0	0	0.0001	0.0005	0.0015	0.076	0.34444	T	0.0	0.92824	D	0.958	0.54977	D	0.65	0.52463	P	0.005569	0.32687	N	0.142164	0.998185	0.44603	D	2.38	0.68558	M	2.47	0.17113	T	-0.49	0.15578	N	0.325	0.50598	-1.1243	0.02076	T	0.058	0.24354	T	10	0.08785421	0.15072	T	0.014397	0.34491	T	0.094	0.27141	.	.	0.722556352178	0.72010	0.5580015452753192	0.55727	0.615137335204	0.56008	0.450512886047	0.32014	T	0.304046	0.67637	T	-0.396646	0.02435	T	-0.436445	0.29207	T	0.0772494739264863	0.09632	T	0.758124	0.38180	T	0.09727431	0.22928	0.051586293	0.08332	0.09727431	0.22927	0.051586293	0.08332	-5.923	0.46204	T	.	.	0.204	0.42990	B	.;.;.;.	.;.;.;.	2.787093	0.36630	20.3	0.99058018210034415	0.51413	0.89532	0.50056	D	AEFBCI	0.743672	0.68690	D	0.176852524998245	0.50089	3.202346	0.0908153817108833	0.44084	2.697146	0.997105511054301	0.35279	0.744818	0.98587	0	0.379588	0.06130	0	0.732433	0.93434	0	0.616125	0.45549	0	.	.	3.86	0.809	0.17866	0.443000	0.21360	2.378000	0.32469	0.618000	0.50648	0.999000	0.42656	0.984000	0.30665	0.663000	0.33052	0.2931:0.0:0.7069:0.0	7.992	0.29409	305	0.87738	.;.;.;.	.	.	.	.	.	Uncertain significance	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	1427.98	34	chr12	57470538	.	G	T	1427.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=799;ExcessHet=0.0000;FS=2.496;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=0.281;SOR=0.606	GT:AD:DP:GQ:PL	0/1:51,56:107:99:1442,0,1188	20	0	1	0
chr12	57581887	57581887	C	T	exonic	KIF5A	.	nonsynonymous SNV	KIF5A:NM_001354705:exon23:c.C2660T:p.T887I	Myoclonus, intractable, neonatal, Autosomal dominant;Spastic paraplegia 10, autosomal dominant, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	333845	not_provided|Amyotrophic_lateral_sclerosis|Hereditary_spastic_paraplegia|Spastic_paraplegia|Hereditary_spastic_paraplegia_10	MedGen:C3661900|Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MONDO:MONDO:0011408,MedGen:C1858712,OMIM:604187,Orphanet:100991	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.15	T	0.013	B	0.017	B	0.142	N	0.991	N	0	N	-0.77	T	-0.860	T	0.240	T	0.233	1.984	12.59	2.71	0.634	0.812	13.659	0.163	0.0281867094149	0.0005	.	0.0002	0	0	0.0002	0	0.0003	0	0.0004	0.0001876	29	154602	rs139801016	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0002	0.0011	0.0008	5.974e-05	6.708e-05	0.0001	0	0	0.0019	0.0002	0.0003	0.0005	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	9.701e-05	0.0002	0.0001	0	0	0.0002	0	0	0	0	0.0003	0.0005	0.0006	0.103	0.39334	T	0.389	0.16522	T	0.013	0.16609	B	0.017	0.18140	B	0.142379	0.02896	N	1.722450	0.99081	0.24122	N	0.69	0.16971	N	-0.79	0.73739	T	-0.15	0.09297	N	0.222	0.24883	-0.8601	0.51256	T	0.240	0.60738	T	10	0.04367113	0.03242	T	0.028187	0.50901	D	0.163	0.42028	.	.	0.350697349064	0.34675	0.3406326517892306	0.33976	0.672051253326	0.59506	0.405514538288	0.25835	T	0.179843	0.53098	T	-0.322984	0.06657	T	-0.379754	0.35751	T	0.0458814926025247	0.04762	T	0.79922	0.44465	T	0.04141246	0.06093	0.062232867	0.12142	0.04141246	0.06092	0.062232867	0.12141	-4.309	0.28302	T	.	.	0.083	0.14431	B	.;.	.;.	2.259320	0.28866	17.94	0.98752637853625214	0.45679	0.61076	0.31379	D	AEFBI	0.109416	0.21734	N	-0.560309074914307	0.20161	1.060829	-0.419382641922241	0.24428	1.337633	0.998509210439269	0.37090	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	4.61	2.71	0.31092	0.178000	0.16634	0.384000	0.17813	0.599000	0.40250	0.005000	0.17040	0.067000	0.22148	0.982000	0.59238	0.0:0.6764:0.3236:0.0	13.659	0.61832	285	0.88719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1241.98	41	chr12	57581887	.	C	T	1241.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=919;ExcessHet=0.0000;FS=0.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=-4.300e-01;SOR=0.786	GT:AD:DP:GQ:PL	0/1:54,50:104:99:1256,0,1304	20	0	1	0
chr12	64187626	64187626	C	T	exonic	C12orf66	.	nonsynonymous SNV	C12orf66:NM_001300940:exon4:c.G1360A:p.V454M,	.	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	N	0.998	D	.	.	1.45	T	-1.050	T	0.059	T	0.092	0.146	4.786	-2.79	-0.473	-0.780	4.049	0.014	0.00281078511335	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1185364941	2.313e-05	2.189e-05	1.57e-05	3.076e-05	3.167e-05	1.674e-05	1.433e-05	1.677e-05	1.425e-05	3.167e-05	0	0	0	2.94e-05	0	2.411e-05	3.449e-05	2.526e-05	3.291e-05	3.286e-05	5.145e-05	1.347e-05	5.88e-05	1.262e-05	7.99e-06	1.972e-05	1.124e-05	2.419e-05	0	0	0	0	0	0	5.88e-05	0	0	0.407	0.10245	T	0.216	0.26226	T	.	.	.	.	.	.	0.238625	0.15761	N	0.531595	0.999933	0.19363	N	.	.	.	1.45	0.32482	T	-0.04	0.07590	N	0.148	0.15046	-1.0496	0.14509	T	0.059	0.24797	T	6	0.09118363	0.15952	T	0.002811	0.05869	T	0.014	0.01968	0.283	0.23961	0.0675242888579	0.06100	0.36603456424990427	0.36517	.	.	.	.	.	.	.	.	-0.513329	0.00481	T	-0.715459	0.05017	T	0.0468732602894306	0.04942	T	0.419458	0.11115	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.833865	0.12054	8.609	0.74121986629095105	0.10578	0.00795	0.03245	N	ALL	0.016978	0.00415	N	-0.735645111952012	0.15026	0.7536467	-0.873480517161831	0.12724	0.6561913	0.99999994051823	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.607083	0.38531	0	.	.	3.3	-2.79	0.05494	-0.794000	0.04690	-1.540000	0.05213	-1.988000	0.00457	0.449000	0.26558	0.000000	0.08366	0.010000	0.09038	0.0:0.3535:0.1924:0.4541	4.049	0.09266	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	0.02381	588.98	34	chr12	64187626	.	C	T	588.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.390;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.41;ReadPosRankSum=-1.690e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/1:43,27:70:99:603,0,1029	20	0	1	0
chr12	70353915	70353915	A	-	exonic	CNOT2	.	nonframeshift deletion	CNOT2:NM_001199303:exon16:c.1623delA:p.X541X	.	.	869	502	37	12	102	163	0.057277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2294.56	31	chr12	70353913	.	TAA	T,TA,TAAA	2294.56	.	AC=9,8,4;AF=0.214,0.190,0.095;AN=42;BaseQRankSum=0.709;DP=1081;ExcessHet=11.2363;FS=0.442;InbreedingCoeff=-0.4297;MLEAC=8,8,3;MLEAF=0.190,0.190,0.071;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-2.490e-01;SOR=0.744	GT:AD:DP:GQ:PL	1/3:4,10,8,4:34:9:311,9,196,106,19,172,290,0,73,479	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	1/3:4,10,8,4:34:9:311,9,196,106,19,172,290,0,73,479	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	0/1:54,19:73:22:.:.:22,0,1014	10	0	4	7
chr12	71697372	71697372	A	G	exonic	TMEM19	.	nonsynonymous SNV	TMEM19:NM_018279:exon4:c.A475G:p.I159V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.041	B	0.056	B	0.000	D	0.999	D	1.5	L	.	.	-0.857	T	0.195	T	0.206	0.468	6.541	5.94	2.275	5.845	16.407	0.091	0.00223294333776	.	.	8.244e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs776185157	1.371e-05	1.368e-05	1.637e-05	1.102e-05	0.0002	8.95e-06	7.28e-06	9.32e-06	7.62e-06	3.009e-05	0	0	0	0	0.0002	1.53e-05	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	0.30235	T	0.216	0.26226	T	0.041	0.21357	B	0.056	0.26147	B	0.000021	0.62929	D	0.183563	0.999393	0.46900	D	1.115	0.28702	L	.	.	.	-0.06	0.09297	N	0.474	0.50958	-0.8569	0.51484	T	0.195	0.54956	T	9	0.17153725	0.31878	T	0.002233	0.04233	T	0.091	0.26358	0.355	0.35571	0.0138822411134	0.00435	0.6274295513124305	0.62675	0.0506834317996	0.05566	0.582865834236	0.50488	T	0.007743	0.07126	T	-0.119261	0.33243	T	-0.393601	0.34130	T	0.176294931239628	0.18998	T	0.908009	0.78384	D	0.038606588	0.05176	0.06342399	0.12561	0.038606588	0.05176	0.06342399	0.12561	-3.928	0.26301	T	.	.	0.110	0.28664	B	.;.;.;.;.	.;.;.;.;.	1.727870	0.21993	15.44	0.89078255149902963	0.18493	0.97512	0.75231	D	AEFBI	0.756626	0.69583	D	-0.0275454838502248	0.40611	2.414694	0.174813042435382	0.48471	3.06257	0.999911936034397	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.94	5.94	0.96165	5.838000	0.69097	6.912000	0.56902	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	1.0:0.0:0.0:0.0	16.407	0.83529	887	0.27948	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1371.98	35	chr12	71697372	.	A	G	1371.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=782;ExcessHet=0.0000;FS=3.016;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.73;ReadPosRankSum=-9.760e-01;SOR=0.951	GT:AD:DP:GQ:PL	0/1:31,51:82:99:1386,0,640	20	0	1	0
chr12	76059802	76059802	A	G	exonic	NAP1L1	.	nonsynonymous SNV	NAP1L1:NM_001330232:exon4:c.T236C:p.I79T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.741	P	0.287	B	0.000	D	1.000	D	0.505	N	1.0	T	-1.072	T	0.067	T	0.312	2.059	12.84	5.49	2.213	9.009	12.985	0.154	0.0140890462673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.298e-05	0.0001	1.007e-05	1.59e-05	3.167e-05	8.11e-06	6.69e-06	6.9e-06	5.32e-06	3.167e-05	0	0	0	0	0	1.237e-05	3.459e-05	2.454e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.58626	T	0.515	0.10643	T	0.741	0.42992	P	0.232	0.40572	B	0.000212	0.47681	D	0.219991	0.940363	0.81001	D	1.35	0.33515	L	1.0	0.41392	T	-1.96	0.50666	N	0.224	0.26111	-1.0717	0.09043	T	0.067	0.27708	T	10	0.21725681	0.38332	T	0.014089	0.33970	T	0.154	0.40340	0.451	0.51285	0.265735104816	0.26182	0.28783724609276506	0.28696	0.828852337507	0.67540	0.57043671608	0.48739	T	0.091695	0.38850	T	-0.0750447	0.40518	T	-0.345573	0.39712	T	0.783953189849854	0.45299	D	0.659534	0.37862	T	0.10568608	0.24989	0.1311999	0.31509	0.10568608	0.24989	0.1311999	0.31508	-8.678	0.65603	D	.	.	0.270	0.65692	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.388031	0.67691	25.1	0.9712404844935334	0.32469	0.99811	0.99622	D	AEFBI	0.923144	0.89919	D	0.0872240292922002	0.45869	2.836197	0.26620784129639	0.53577	3.525932	0.999999917027058	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.49	5.49	0.81022	9.263000	0.94779	11.266000	0.91241	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.8656:0.1344:0.0:0.0	12.985	0.57988	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	0.09524	575.92	35	chr12	76059802	.	A	G	575.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.663e+00;DP=1238;ExcessHet=0.6776;FS=149.322;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=1.36;ReadPosRankSum=-1.420e-01;SOR=9.129	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,17:96:99:0|1:76059802_A_G:101,0,2413:76059802	17	0	4	0
chr12	94279495	94279497	AAT	-	exonic	PLXNC1	.	nonframeshift deletion	PLXNC1:NM_005761:exon22:c.3621_3623del:p.K1207_I1208delinsN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1615.94	33	chr12	94279494	.	AAAT	A	1615.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.142;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.47;ReadPosRankSum=-1.272e+00;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,42:83:99:0|1:94279494_AAAT_A:1630,0,1570:94279494	20	0	1	0
chr12	100380943	100380943	C	G	exonic	SLC17A8	.	nonsynonymous SNV	SLC17A8:NM_001145288:exon2:c.C344G:p.P115R	Deafness, autosomal dominant 25, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.495	P	0.347	B	0.000	D	1.000	D	1.04	L	-0.14	T	-0.737	T	0.267	T	0.783	1.465	10.84	5.27	2.466	3.234	18.890	0.267	0.0269775364795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.07140	T	0.526	0.10245	T	0.392	0.37059	B	0.347	0.42698	B	0.000002	0.62929	D	0.059655	0.999991	0.58761	D	0.46	0.12951	N	-0.14	0.71068	T	-1.93	0.47344	N	0.336	0.43995	-0.7369	0.58611	T	0.267	0.63887	T	10	0.21612564	0.38185	T	0.026978	0.49839	D	0.267	0.58126	0.632	0.76810	0.401185642668	0.39728	0.8914091549782028	0.89110	0.196433815475	0.22005	0.649490356445	0.59913	T	0.253018	0.62348	T	0.10756	0.65098	D	-0.0832745	0.64664	T	0.696889281272888	0.40571	D	0.761624	0.38671	T	0.160294	0.35961	0.1768554	0.40248	0.160294	0.35961	0.1768554	0.40247	-9.256	0.69330	D	0.09742581121508652	0.06852	0.094	0.27161	B	.;.	.;.	2.439276	0.31391	18.73	0.88251510660999688	0.17831	0.97744	0.76819	D	AEFDBI	0.702702	0.65898	D	0.0628783630475106	0.44737	2.742334	0.200645080211378	0.49883	3.186351	0.999799667293363	0.43153	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.27	5.27	0.73797	3.300000	0.51541	3.828000	0.39982	0.549000	0.26987	0.995000	0.38783	0.999000	0.35428	0.850000	0.40195	0.0:1.0:0.0:0.0	18.890	0.92363	636	0.64483	Major facilitator superfamily domain|Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	816.98	33	chr12	100380943	.	C	G	816.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=754;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.59;ReadPosRankSum=0.684;SOR=0.843	GT:AD:DP:GQ:PL	0/1:25,31:56:99:831,0,577	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|1:164,15,0,0,0:179:99:0|1:103984920_G_GA:125,0,6793,622,6839,7460,622,6839,7460,7460,622,6839,7460,7460,7460:103984920	10	0	6	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCTGTTAA	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCTGTTAA:p.E188Gfs*8	.	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0003	9.285e-05	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0.0003	7.88e-05	0.0004	0.0002	0.0002	0.0001	0.0002	0.0001	6.627e-06	7.246e-05	0	1.357e-05	1.481e-05	0	0	.	.	0	0	0	0	0	0	0	1.481e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2855.73	35	chr12	103984920	.	G	GA,GAGGATGCAAAGAAGATGGCT,GAGGATGCAAAGAAGATGGCTGTTAA,GAGGATGCAAAGAAGAT	2855.73	.	AC=6,1,3,1;AF=0.143,0.024,0.071,0.024;AN=42;BaseQRankSum=2.28;DP=2265;ExcessHet=7.7275;FS=9.950;InbreedingCoeff=-0.3548;MLEAC=6,1,3,1;MLEAF=0.143,0.024,0.071,0.024;MQ=58.63;MQRankSum=-9.857e+00;QD=1.88;ReadPosRankSum=-4.625e+00;SOR=2.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,15,0,0,0:179:99:0|1:103984920_G_GA:125,0,6793,622,6839,7460,622,6839,7460,7460,622,6839,7460,7460,7460:103984920	10	0	6	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGAT	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGAT:p.M184Ifs*9	.	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0098	0.0020	0.0024	0.0047	0.0021	0.0021	0.0044	0.0042	0.0028	0.0029	0.0047	0.0013	0.0014	0.0016	0.0020	0.0022	0.0047	1.988e-05	0.0002	0	4.073e-05	4.875e-05	5.29e-06	2.47e-06	8.08e-06	3.02e-06	4.875e-05	0	0	0	0	9.546e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2855.73	35	chr12	103984920	.	G	GA,GAGGATGCAAAGAAGATGGCT,GAGGATGCAAAGAAGATGGCTGTTAA,GAGGATGCAAAGAAGAT	2855.73	.	AC=6,1,3,1;AF=0.143,0.024,0.071,0.024;AN=42;BaseQRankSum=2.28;DP=2265;ExcessHet=7.7275;FS=9.950;InbreedingCoeff=-0.3548;MLEAC=6,1,3,1;MLEAF=0.143,0.024,0.071,0.024;MQ=58.63;MQRankSum=-9.857e+00;QD=1.88;ReadPosRankSum=-4.625e+00;SOR=2.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,15,0,0,0:179:99:0|1:103984920_G_GA:125,0,6793,622,6839,7460,622,6839,7460,7460,622,6839,7460,7460,7460:103984920	10	0	6	0
chr12	103984922	103984922	-	TAAGGA	splicing	TDG	NM_001363612:exon7:c.535+2->TAAGGA;NM_003211:exon8:c.964+2->TAAGGA	.	.	.	.	444	951	105	0	22	127	0.0523169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.532e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	1501.77	35	chr12	103984922	.	T	G,TTAAGGA	1501.77	.	AC=6,1;AF=0.167,0.028;AN=36;BaseQRankSum=4.51;DP=2009;ExcessHet=2.5830;FS=10.970;InbreedingCoeff=-0.2537;MLEAC=7,1;MLEAF=0.194,0.028;MQ=58.73;MQRankSum=-1.024e+01;QD=1.56;ReadPosRankSum=-4.344e+00;SOR=2.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,15,0:179:99:0|1:103984920_G_GA:126,0,6793,622,6838,7459:103984920	11	0	6	3
chr12	103985729	103985729	-	AGAGCGTGGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCC	splicing	TDG	NM_001363612:exon8:c.661+1->AGAGCGTGGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCC;NM_003211:exon9:c.1090+1->AGAGCGTGGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0.0002	0.0002	0	0.0001	0	0.0001	3.84e-05	1	26028	.	1.273e-05	9.077e-06	1.11e-05	1.443e-05	0.0002	5.99e-06	4.34e-06	6.176e-05	3.281e-05	0.0002	0	8.9e-05	0	3.778e-05	0	3.552e-06	3.571e-05	3.391e-05	0	1.22e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	334.4	63	chr12	103985729	.	G	GAGAGCGTGGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCC	334.4	.	AC=1;AF=0.033;AN=30;BaseQRankSum=3.23;DP=1642;ExcessHet=0.0000;FS=6.583;InbreedingCoeff=-0.1053;MLEAC=1;MLEAF=0.033;MQ=57.55;MQRankSum=-8.761e+00;QD=3.31;ReadPosRankSum=-3.710e+00;SOR=1.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,15:101:99:0|1:103985728_A_ATT:346,0,3550:103985728	14	0	1	6
chr12	104067989	104067989	C	T	exonic	HCFC2	.	nonsynonymous SNV	HCFC2:NM_013320:exon3:c.C355T:p.P119S,	.	.	434	1033	51	4	0	59	0.0277647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	T	0.0	B	0.0	B	0.018	N	0.995	N	-0.205	N	-0.73	T	-1.003	T	0.097	T	0.297	0.420	6.283	-0.9	0.067	0.481	5.946	0.082	.	0.0019	0.0217652	0.0118	0.0028	0.0015	0.0003	0.0002	0.0020	0.0154	0.0748	0.0103815	1605	154602	rs150909028	0.0055	0.0055	0.0036	0.0074	0.0716	0.0054	0.0053	0.0701	0.0695	0.0022	0.0017	0.0155	0.0002	9.373e-05	0.0138	0.0007	0.0079	0.0716	0.0041	0.0041	0.0031	0.0052	0.0738	0.0039	0.0038	0.0675	0.0650	0.0027	0	0.0012	0.0164	0.0015	9.457e-05	0	0.0010	0.0043	0.0738	0.762	0.06441	T	0.509	0.19188	T	0.0	0.02946	B	0.0	0.01387	B	0.017630	0.27675	N	0.465207	0.994542	0.23495	N	-0.2	0.04182	N	-0.73	0.73100	T	1.14	0.01488	N	0.079	0.05414	-1.0032	0.28992	T	0.097	0.36341	T	10	0.0012520552	0.00014	T	.	.	.	0.082	0.23913	.	.	.	.	0.2593041446709966	0.25844	0.812225268878	0.66784	0.273396193981	0.06588	T	0.025239	0.18911	T	-0.471885	0.00827	T	-0.395535	0.33905	T	0.000383467336503744	0.00003	T	0.70043	0.31009	T	0.028307982	0.02149	0.032848753	0.02084	0.028307982	0.02149	0.032848753	0.02084	-3.569	0.17410	T	.	.	0.060	0.02993	B	.;.	.;.	0.605430	0.09738	6.507	0.72821341790466698	0.10107	0.05369	0.11230	N	AEFBI	0.031441	0.03364	N	-1.11600442923523	0.06358	0.2924515	-0.96389539465514	0.10602	0.5350199	0.989493607714454	0.31844	0.651	0.46895	0	0.708844	0.79440	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.64	-0.9	0.10008	0.467000	0.21747	0.047000	0.13948	-0.167000	0.11441	0.035000	0.20724	0.005000	0.19230	0.974000	0.55675	0.0:0.2705:0.1259:0.6036	5.946	0.18456	819	0.41190	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3560.11	34	chr12	104067989	.	C	T	3560.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.178;DP=955;ExcessHet=0.1072;FS=2.062;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=0.613;SOR=0.844	GT:AD:DP:GQ:PL	0/1:63,74:137:99:1964,0,1666	19	0	2	0
chr12	108623185	108623185	C	A	exonic	SELPLG	.	nonsynonymous SNV	SELPLG:NM_001206609:exon2:c.G1171T:p.G391W	.	.	397	1124	1	0	0	1	0.000444642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.387	N	1.000	N	0.895	L	0.87	T	-0.930	T	0.194	T	0.366	2.691	14.96	3.86	2.183	1.674	11.518	0.113	0.0189733840666	.	0.000199681	0.0002	0	0	0	0	0	0	0.0012	0.0001229	19	154602	rs530229175	3.011e-05	3.078e-05	1.089e-05	4.952e-05	0.0005	2.282e-05	2.033e-05	0.0004	0.0003	0	0	0	2.519e-05	0	0	0	1.656e-05	0.0005	1.971e-05	1.969e-05	0	4.033e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.996e-05	0	0	0	0	0	0	0	0	0	0.0006	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.989	0.78396	D	0.386963	0.13309	N	0.620316	1	0.08975	N	1.79	0.46772	L	0.8	0.48769	T	-3.8	0.72471	D	0.255	0.29659	-0.9301	0.44124	T	0.194	0.54797	T	10	0.03750959	0.02109	T	0.018973	0.41201	T	0.113	0.31778	0.366	0.37361	0.491592572028	0.48794	0.19539350359160973	0.19456	0.57321118132	0.53386	0.322140336037	0.13745	T	0.344815	0.71328	T	-0.344958	0.05052	T	-0.36102	0.37936	T	0.429073667830852	0.30026	T	0.746525	0.37327	T	0.12098649	0.28458	0.2298423	0.48068	0.12098649	0.28458	0.2298423	0.48067	-8.841	0.66668	D	.	.	0.345	0.56278	A	.;.;.	.;.;.	3.311375	0.45497	22.1	0.99273936449880984	0.57661	0.19932	0.20851	N	AEFBCI	0.216502	0.34173	N	-0.000116266878780191	0.41850	2.510693	-0.161562628147241	0.32965	1.880818	0.99996615156406	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.573078	0.19857	0	0.620204	0.46100	0	.	.	3.86	3.86	0.43689	1.672000	0.37139	3.142000	0.36487	0.599000	0.40250	0.005000	0.17040	0.070000	0.22201	0.073000	0.16832	0.0:1.0:0.0:0.0	11.518	0.49783	853	0.34956	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	918.98	33	chr12	108623185	.	C	A	918.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.87;DP=763;ExcessHet=0.0000;FS=0.978;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=-1.477e+00;SOR=0.537	GT:AD:DP:GQ:PL	0/1:33,32:65:99:933,0,872	20	0	1	0
chr12	110628923	110628923	G	A	exonic	TCTN1	.	nonsynonymous SNV	TCTN1:NM_001319682:exon4:c.G461A:p.S154N,	Joubert syndrome 13, Autosomal recessive	.	.	.	.	.	.	.	.	0.9819	0.712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0426171191547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	3.42e-06	5.448e-06	1.376e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	0.06109	T	0.302	0.32608	B	0.121	0.32300	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.157	0.16308	.	.	.	.	.	.	.	0.15333271	0.28945	T	0.042617	0.60557	D	.	.	.	.	0.614370161906	0.61125	.	.	.	.	.	.	.	.	.	.	-0.33182	0.05975	T	-0.714413	0.05070	T	.	.	.	0.284972	0.05045	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27613	B	.	.	2.472231	0.31864	18.87	0.68165143318971155	0.08575	0.15893	0.19132	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.828579610106998	0.24652	0.106106	0.02776	0	0.097471	0.02872	0	0.083675	0.02720	0	0.109871	0.03346	0	.	.	5.28	1.32	0.20897	1.425000	0.34467	6.317000	0.55438	0.672000	0.70159	0.932000	0.32345	1.000000	0.68203	0.839000	0.39591	0.34:0.1612:0.4988:0.0	4.316	0.10433	186	0.92733	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.07895	56.42	83	chr12	110628923	.	G	A	56.42	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.935e+00;DP=1798;ExcessHet=0.3300;FS=174.600;InbreedingCoeff=-0.1262;MLEAC=3;MLEAF=0.079;MQ=60.00;MQRankSum=0.00;QD=0.13;ReadPosRankSum=0.585;SOR=9.641	GT:AD:DP:GQ:PL	0/1:111,43:160:32:32,0,1982	16	0	3	2
chr12	111598975	111598975	C	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	.	3	208	8	0	7	15	0.0188679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	490.28	31	chr12	111598975	.	C	T,*	490.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-1.004e+00;DP=1004;ExcessHet=0.3300;FS=8.241;InbreedingCoeff=-0.0786;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=6.63;ReadPosRankSum=1.48;SOR=1.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:24,0,3:27:45:0|1:111598974_GC_G:45,117,1042,0,924,915:111598974	18	0	2	0
chr12	113272679	113272687	ACCCTTCAG	-	exonic	TPCN1	.	nonframeshift deletion	TPCN1:NM_001301214:exon7:c.566_574del:p.S191_P193del	.	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	.	0.0010	0.0002	0.0004	0	0	0.0012	0.0055	0.0013	0.0001153	3	26028	rs777710312	0.0010	0.0011	0.0010	0.0011	0.0014	0.0010	0.0010	0.0011	0.0011	0.0004	0.0003	0.0002	0	9.36e-05	0.0014	0.0012	0.0011	0.0012	0.0008	0.0008	0.0008	0.0008	0.0023	0.0007	0.0006	0.0013	0.0010	0.0002	0.0011	0.0004	0.0003	0	0	0	0.0014	0.0009	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4699.94	35	chr12	113272678	.	AACCCTTCAG	A	4699.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=999;ExcessHet=0.0000;FS=0.417;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.11;ReadPosRankSum=-1.542e+00;SOR=0.658	GT:AD:DP:GQ:PL	0/1:183,128:311:99:4714,0,7265	20	0	1	0
chr12	113437955	113437955	G	A	exonic	SDSL	.	nonsynonymous SNV	SDSL:NM_001304993:exon8:c.G866A:p.R289Q	.	.	424	1081	17	0	0	17	0.00780174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.005	B	0.007	B	0.671	N	1.000	N	-0.74	N	-4.04	D	-0.295	T	0.517	D	0.202	-0.164	3.198	2.47	0.406	1.675	6.772	0.019	0.0405583458403	0.0012	0.00179712	0.0015	0.0005	0.0019	0	0	0.0015	0.0044	0.0028	0.0013325	206	154602	rs150420059	0.0013	0.0013	0.0012	0.0014	0.0158	0.0012	0.0012	0.0132	0.0122	0.0006	0.0018	0.0023	0	1.873e-05	0.0158	0.0011	0.0019	0.0030	0.0010	0.0010	0.0009	0.0011	0.0029	0.0008	0.0008	0.0018	0.0014	0.0004	0	0.0020	0.0014	0.0002	9.411e-05	0.0136	0.0011	0.0009	0.0029	0.666	0.04616	T	0.702	0.05685	T	0.005	0.12996	B	0.007	0.12992	B	0.671458	0.10338	N	0.849423	1	0.08975	N	0.155	0.08919	N	-4.04	0.96465	D	0.85	0.01736	N	0.081	0.06990	-0.2955	0.75110	T	0.517	0.81932	D	10	0.00942567	0.00213	T	0.040558	0.59442	D	0.215	0.50805	.	.	0.55744451731	0.55404	0.0986820761971718	0.09799	0.0672925529971	0.07525	0.333418637514	0.15450	T	0.260463	0.63184	T	-0.300766	0.08588	T	-0.209421	0.53750	T	0.00986654380024775	0.00130	T	0.20398	0.02363	T	0.3189343	0.54549	0.106271446	0.25563	0.3189343	0.54549	0.106271446	0.25562	-3.052	0.10752	T	.	.	0.077	0.06525	B	.;.	.;.	1.580415	0.20222	14.65	0.52425646364151079	0.04746	0.10413	0.15927	N	AEFDBI	0.365027	0.45335	N	-0.758843049121502	0.14394	0.7166622	-0.604257714065942	0.19383	1.039714	1.87903979468907E-4	0.05844	0.638212	0.43195	0	0.588066	0.40923	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	4.31	2.47	0.29113	1.371000	0.33855	3.962000	0.40756	0.672000	0.70159	0.017000	0.19353	0.976000	0.30059	0.025000	0.12405	0.4247:0.0:0.5753:0.0	6.772	0.22783	889	0.27310	Pyridoxal-phosphate dependent enzyme;Pyridoxal-phosphate dependent enzyme	.	.	.	.	.	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	1562.98	33	chr12	113437955	.	G	A	1562.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.991;DP=833;ExcessHet=0.0000;FS=2.459;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=0.455;SOR=0.954	GT:AD:DP:GQ:PL	0/1:49,64:113:99:1577,0,1030	20	0	1	0
chr12	120504894	120504894	C	G	splicing	COQ5	NM_032314:exon5:c.770+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.675	18.68	4.8	2.377	6.447	15.235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424649	0.91260	D	0.372202	0.91151	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.361044	0.89905	31	0.99419366634059514	0.63694	0.99329	0.94577	D	AEFBI	.	.	.	1.10674132961129	0.98257	17.80249	0.939249420559417	0.97066	15.54136	0.99999932017092	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.162341	0.03957	1	0.117559	0.03655	0	0.975627	0.78610	4.8	4.8	0.61157	6.738000	0.74624	7.588000	0.61163	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	15.235	0.73112	552	0.72024	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1476.98	34	chr12	120504894	.	C	G	1476.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.27;DP=840;ExcessHet=0.0000;FS=1.337;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=-1.460e-01;SOR=0.542	GT:AD:DP:GQ:PL	0/1:88,60:148:99:1491,0,2280	20	0	1	0
chr12	121240525	121240525	-	TT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAA:p.G539Kfs*6,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/4:59,0,0,0,17,0:80:99:199,418,1917,418,1917,1917,418,1917,1917,1917,0,1461,1461,1461,1446,418,1917,1917,1917,1461,1917	4	0	0	0
chr12	121240525	121240525	-	TTT	exonic	CAMKK2	.	nonframeshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAA:p.K538_G539insK,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/4:59,0,0,0,17,0:80:99:199,418,1917,418,1917,1917,418,1917,1917,1917,0,1461,1461,1461,1446,418,1917,1917,1917,1461,1917	4	0	0	0
chr12	121240525	121240525	-	TTTT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAAA:p.G539Kfs*4,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/4:59,0,0,0,17,0:80:99:199,418,1917,418,1917,1917,418,1917,1917,1917,0,1461,1461,1461,1446,418,1917,1917,1917,1461,1917	4	0	0	0
chr12	121240525	121240525	-	TTTTT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAAAA:p.G539Kfs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/4:59,0,0,0,17,0:80:99:199,418,1917,418,1917,1917,418,1917,1917,1917,0,1461,1461,1461,1446,418,1917,1917,1917,1461,1917	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	2/2:4,0,77,0,0:81:74:2967,2979,3137,74,232,0,2979,3137,232,3137,2979,3137,232,3137,3137	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	2/2:4,0,77,0,0:81:74:2967,2979,3137,74,232,0,2979,3137,232,3137,2979,3137,232,3137,3137	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	2/2:4,0,77,0,0:81:74:2967,2979,3137,74,232,0,2979,3137,232,3137,2979,3137,232,3137,3137	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	2/2:4,0,77,0,0:81:74:2967,2979,3137,74,232,0,2979,3137,232,3137,2979,3137,232,3137,3137	0	1	2	0
chr12	125350246	125350246	G	T	exonic	TMEM132B	.	nonsynonymous SNV	TMEM132B:NM_001366854:exon2:c.G862T:p.V288F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.603	P	0.387	B	.	.	1.000	N	1.18	L	2.67	T	-1.046	T	0.029	T	0.411	1.335	10.38	4.45	1.250	1.647	7.688	0.123	0.00907658507813	.	.	4.177e-05	0	0	0	0	7.561e-05	0	0	3.23e-05	5	154602	rs775660946	4.104e-06	4.104e-06	2.722e-06	5.5e-06	0.0002	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.597e-06	1.656e-05	0	6.567e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.192	0.20988	T	0.221	0.25827	T	0.603	0.39389	P	0.387	0.44046	B	.	.	.	.	1	0.08975	N	2.475	0.71894	M	2.67	0.12473	T	-1.38	0.34198	N	0.454	0.49146	-1.0459	0.15563	T	0.029	0.12497	T	9	0.20778692	0.37086	T	0.009077	0.23893	T	0.123	0.34020	0.584	0.71118	0.119812018005	0.11559	0.49556645676764133	0.49477	0.699425841073	0.61035	0.403794020414	0.25597	T	0.022707	0.17460	T	-0.282943	0.10358	T	-0.458301	0.26785	T	0.132369201450185	0.15599	T	0.875013	0.58582	D	0.096587874	0.22752	0.08939376	0.20903	0.096587874	0.22751	0.08939376	0.20902	-5.391	0.40833	T	.	.	0.125	0.26325	B	.	.	3.247273	0.44348	21.9	0.98386049980500956	0.40905	0.27686	0.23346	N	AEFBI	0.170737	0.29766	N	-0.399471139746125	0.25488	1.383953	-0.416774904133621	0.24505	1.342234	0.095013297292219	0.16218	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.34	4.45	0.53365	2.121000	0.41601	9.784000	0.81612	0.676000	0.76740	0.180000	0.24064	1.000000	0.68203	0.883000	0.42306	0.1465:0.1345:0.7191:0.0	7.688	0.27718	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1331.98	33	chr12	125350246	.	G	T	1331.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=927;ExcessHet=0.0000;FS=2.129;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.19;ReadPosRankSum=-3.250e-01;SOR=0.534	GT:AD:DP:GQ:PL	0/1:89,56:145:99:1346,0,2203	20	0	1	0
chr12	129903305	129903305	T	A	exonic	TMEM132D	.	nonsynonymous SNV	TMEM132D:NM_133448:exon1:c.A35T:p.H12L,	.	.	429	1061	28	3	1	35	0.0157699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.001	B	0.122	N	1.000	N	-0.895	N	3.89	T	-0.953	T	0.002	T	0.141	0.122	4.656	-4.27	-0.792	0.050	0.934	0.037	.	0.0062	0.00539137	0.0099	0.0015	0.0023	0.0016	0.0238	0.0092	0.0105	0.0144	0.0041203	637	154602	rs142888394	0.0101	0.0099	0.0100	0.0103	0.0144	0.0100	0.0099	0.0137	0.0134	0.0014	0.0040	0.0019	0	0.0066	0.0072	0.0110	0.0093	0.0144	0.0064	0.0064	0.0069	0.0060	0.0114	0.0061	0.0060	0.0095	0.0092	0.0018	0	0.0052	0.0006	0.0004	0.0057	0.0068	0.0101	0.0061	0.0114	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.121962	0.18974	N	0.452778	0.999993	0.08975	N	-0.69	0.01958	N	3.89	0.03544	T	-0.41	0.14000	N	0.121	0.11197	-0.9532	0.40416	T	0.002	0.00676	T	9	0.0027821362	0.00044	T	.	.	.	0.037	0.09474	.	.	0.043077524339	0.03247	0.45197660202093237	0.45115	0.293656750439	0.31782	0.574056863785	0.49250	T	0.002835	0.02227	T	-0.674789	0.00051	T	-0.730388	0.04310	T	0.000752514955551363	0.00007	T	0.306369	0.05889	T	0.09347234	0.21955	0.026087241	0.00681	0.09347234	0.21955	0.026087241	0.00681	-1.391	0.01555	T	.	.	0.052	0.00220	B	.	.	0.835830	0.12076	8.628	0.84902657149399108	0.15566	0.04191	0.09695	N	AEFDBHCI	0.028112	0.02415	N	-1.18063007958765	0.05293	0.2409575	-1.1311354264033	0.07111	0.3447007	0.999996201678762	0.74766	0.789315	0.99827	0	0.573888	0.26702	0	0.768056	0.98339	0	0.564101	0.26826	0	.	.	5.2	-4.27	0.03486	-0.052000	0.11821	-0.650000	0.08033	0.605000	0.46263	0.030000	0.20431	0.000000	0.08366	0.996000	0.76049	0.4633:0.173:0.1254:0.2384	0.934	0.01256	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	1336.11	34	chr12	129903305	.	T	A	1336.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.26;DP=800;ExcessHet=0.1072;FS=2.158;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.75;ReadPosRankSum=1.67;SOR=0.592	GT:AD:DP:GQ:PL	0/1:51,39:90:99:928,0,1226	19	0	2	0
chr12	131797354	131797354	G	A	exonic	SFSWAP	.	nonsynonymous SNV	SFSWAP:NM_004592:exon16:c.G2711A:p.R904H	.	.	429	1059	32	2	0	36	0.0167131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.994	D	0.000	D	1.000	D	1.78	L	2.72	T	-0.909	T	0.155	T	0.522	4.103	21.1	5.41	2.523	6.300	17.955	0.151	.	0.0004	0.00359425	0.0028	0.0002	0.0017	0.0005	0	0.0005	0.0013	0.0159	0.0021733	336	154602	rs2229809	0.0013	0.0013	0.0008	0.0017	0.0147	0.0012	0.0012	0.0140	0.0137	0.0002	0.0014	0.0009	5.061e-05	1.92e-05	0.0053	0.0003	0.0021	0.0147	0.0010	0.0010	0.0008	0.0012	0.0145	0.0008	0.0008	0.0118	0.0108	9.62e-05	0	0.0009	0.0026	0	0	0.0034	0.0007	0.0009	0.0145	0.001	0.91255	D	0.07	0.43721	T	0.999	0.77913	D	0.987	0.77487	D	0.000276	0.46590	D	0.176010	1	0.81001	D	2.125	0.59049	M	1.85	0.24472	T	-1.34	0.37375	N	0.489	0.52297	-0.9088	0.47001	T	0.155	0.48568	T	10	0.0063506067	0.00143	T	.	.	.	0.151	0.39764	.	.	0.174091166621	0.17034	0.43951067603578076	0.43868	0.547118669287	0.51680	0.697968900204	0.66850	T	0.07596	0.35303	T	-0.355286	0.04403	T	-0.270796	0.47740	T	0.0346239289348422	0.02744	T	0.892111	0.62800	D	0.17955427	0.39032	0.114189036	0.27561	0.17955427	0.39032	0.114189036	0.27561	-5.681	0.43524	T	.	.	0.093	0.25753	B	.;.	.;.	4.280980	0.65215	24.8	0.99876481571176401	0.95328	0.93280	0.57796	D	AEFDBHCI	0.657473	0.62909	D	0.756565380100216	0.83333	7.989863	0.748075774186384	0.86012	8.755491	0.999999999414607	0.74766	0.741868	0.97996	0	0.724815	0.89359	0	0.774882	0.98623	0	0.635551	0.53088	0	.	.	5.41	5.41	0.78313	6.765000	0.74760	7.190000	0.57771	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	17.955	0.88984	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	1134.98	38	chr12	131797354	.	G	A	1134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.783e+00;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.24;ReadPosRankSum=-2.880e-01;SOR=0.800	GT:AD:DP:GQ:PL	0/1:18,41:59:99:1149,0,437	20	0	1	0
chr12	132062526	132062526	-	GCA	exonic	EP400	.	nonframeshift insertion	EP400:NM_015409:exon47:c.8159_8160insGCA:p.Q2748_T2749insQ,	.	.	350	929	220	16	7	259	0.119431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4888.26	92	chr12	132062523	.	GGCA	GGCAGCA,G	4888.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-3.640e-01;DP=1498;ExcessHet=1.7912;FS=2.679;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=59.98;MQRankSum=0.00;QD=7.44;ReadPosRankSum=-6.150e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/1:73,35,0:108:99:676,0,2168,1060,2344,5506	15	0	5	0
chr12	132062524	132062526	GCA	-	exonic	EP400	.	nonframeshift deletion	EP400:NM_015409:exon47:c.8157_8159del:p.Q2748del,	.	.	350	929	220	16	7	259	0.119431	.	.	3198656	EP400-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0695	.	0.0079	0.0062	0.0086	0.0139	0.0069	0.0074	0.0037	0.0077	0.0045336	118	26028	rs751944198	8.771e-05	0.0006	9.222e-05	8.317e-05	0.0004	7.501e-05	6.991e-05	0.0002	0.0002	0.0004	6.891e-05	0	7.673e-05	0.0001	0	7.45e-05	5.091e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0	0	0	0.0002	0	0	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4888.26	92	chr12	132062523	.	GGCA	GGCAGCA,G	4888.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-3.640e-01;DP=1498;ExcessHet=1.7912;FS=2.679;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=59.98;MQRankSum=0.00;QD=7.44;ReadPosRankSum=-6.150e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/1:73,35,0:108:99:676,0,2168,1060,2344,5506	15	0	5	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	1/2:2,27,27,0,0:56:99:.:.:1359,726,899,627,0,734,1416,895,755,1618,1416,895,755,1618,1618	4	2	6	0
chr13	19837799	19837799	T	G	exonic	ZMYM5	.	nonsynonymous SNV	ZMYM5:NM_001039650:exon6:c.A895C:p.N299H	.	.	461	1034	26	1	0	28	0.0133588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.887	P	0.492	P	0.001	D	1.000	N	.	.	2.31	T	-1.045	T	0.025	T	0.085	0.566	7.061	-9.5	-3.177	0.174	3.329	0.082	.	0.0006	0.00399361	0.0025	0	0.0020	0	0	0.0010	0.0044	0.0127	0.0022315	345	154602	rs144354836	0.0012	0.0013	0.0008	0.0016	0.0128	0.0012	0.0012	0.0122	0.0119	9.402e-05	0.0013	0.0042	2.547e-05	1.876e-05	0.0061	0.0004	0.0020	0.0128	0.0009	0.0009	0.0009	0.0008	0.0122	0.0007	0.0007	0.0097	0.0088	9.619e-05	0.0022	0.0009	0.0046	0	0	0.0034	0.0005	0.0009	0.0122	0.013	0.65419	D	0.006	0.70582	D	0.887	0.48784	P	0.492	0.47401	P	0.000714	0.42254	D	0.265534	0.999989	0.54805	D	.	.	.	2.31	0.22474	T	-1.59	0.42575	N	0.193	0.21188	-1.0447	0.15913	T	0.025	0.10509	T	9	0.004525453	0.00093	T	.	.	.	0.082	0.23913	.	.	0.0297737177859	0.01360	0.08321538671832751	0.08255	0.0238801452212	0.02421	0.238329708576	0.02642	T	0.003669	0.21243	T	-0.621564	0.00108	T	-0.654579	0.08636	T	0.0473125616729332	0.05021	T	0.370263	0.08727	T	0.046684273	0.07854	0.027656168	0.00936	0.046684273	0.07854	0.027656168	0.00936	-6.003	0.46305	T	.	.	0.086	0.10594	B	.;.;.	.;.;.	0.105731	0.05063	1.604	0.87662850994616004	0.17390	0.20679	0.21129	N	AEFBI	0.036843	0.04973	N	-1.44914776504721	0.02223	0.09795081	-1.66937787858956	0.01279	0.05767558	0.9999909664443	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	4.75	-9.5	0.00492	0.092000	0.14905	-5.274000	0.01780	-0.695000	0.04090	0.070000	0.22072	0.000000	0.08366	0.000000	0.00833	0.1719:0.3628:0.088:0.3773	3.329	0.06664	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1652.11	39	chr13	19837799	.	T	G	1652.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.07;DP=878;ExcessHet=0.1072;FS=2.099;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.39;ReadPosRankSum=-5.690e-01;SOR=0.532	GT:AD:DP:GQ:PL	0/1:59,43:102:99:1096,0,1713	19	0	2	0
chr13	21155813	21155813	-	GGAG	splicing	SKA3	NM_145061:exon8:c.1120-2->CTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.943e-05	4.936e-05	2.111e-05	1.784e-05	.	1.242e-05	1.001e-05	.	.	0	0	0	0	0.0004	0	0	0	0	0.0005	0.0005	0.0003	0.0006	0.0022	0.0004	0.0003	0.0012	0.0009	0.0002	0	0.0007	0.0003	0.0006	0.0010	0	0.0004	0.0015	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	23464.59	54	chr13	21155813	.	T	TA,TAA,TGGAG	23464.59	.	AC=16,16,1;AF=0.381,0.381,0.024;AN=42;BaseQRankSum=-6.120e-01;DP=1495;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0104;MLEAC=16,16,1;MLEAF=0.381,0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=23.19;ReadPosRankSum=0.381;SOR=0.664	GT:AD:DP:GQ:PL	1/2:4,30,28,0:62:99:1529,606,526,610,0,629,1440,675,710,1482	1	1	4	0
chr13	25097017	25097020	GACG	-	exonic	PABPC3	.	frameshift deletion	PABPC3:NM_030979:exon1:c.819_822del:p.T274Nfs*9,	.	.	426	825	261	1	9	272	0.13748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0002	0.0002	0.0040	0.0002	0.0002	0.0035	0.0033	0	0.0021	7.771e-05	0.0040	0	0.0002	4.518e-06	8.357e-05	0.0005	0.0038	0.0053	0.0031	0.0045	0.0558	0.0035	0.0034	0.0505	0.0484	0.0002	0	0.0081	0.0058	0.0558	0.0010	0	0.0010	0.0052	0.0111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	20220.35	244	chr13	25097016	.	AGACGGAACT	A,AGAACT	20220.35	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.45;DP=4626;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=16,1;MLEAF=0.381,0.024;MQ=59.33;MQRankSum=-1.066e+01;QD=4.53;ReadPosRankSum=-8.050e-01;SOR=1.221	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:229,39,0:268:99:0|1:25097005_A_G:948,0,9498,1638,9616,11253:25097005	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|2:229,0,39:268:99:0|1:25097005_A_G:948,1638,11253,0,9616,9498:25097005	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|2:229,0,39:268:99:0|1:25097005_A_G:948,1638,11253,0,9616,9498:25097005	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|1:230,40,0:270:99:0|1:25097005_A_G:987,0,9492,1680,9612,11292:25097005	4	0	16	0
chr13	30713841	30713841	-	GT	exonic	ALOX5AP	.	frameshift insertion	ALOX5AP:NM_001204406:exon1:c.116_117insGT:p.A40Wfs*25,	.	.	585	586	0	0	351	351	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0171	0.0263	0.0167	0.01	.	0.0067	0.0147	0.0200	0.225603	5872	26028	rs369636483	0.0003	0.0037	0.0003	0.0003	0.0035	0.0003	0.0003	0.0030	0.0028	0.0035	0.0014	0.0004	0.0007	9.077e-05	0.0007	0.0001	0.0004	0.0012	7.233e-05	0.0001	7.041e-05	7.436e-05	0.0001	3.094e-05	2.103e-05	5.452e-05	3.56e-05	0.0001	0	0	0	0	0	0	3.702e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	8628.76	35	chr13	30713841	.	G	GGT,GGTGT	8628.76	.	AC=1,7;AF=0.024,0.167;AN=42;BaseQRankSum=0.564;DP=1049;ExcessHet=0.5418;FS=1.813;InbreedingCoeff=0.0735;MLEAC=1,7;MLEAF=0.024,0.167;MQ=60.00;MQRankSum=0.00;QD=18.68;ReadPosRankSum=0.256;SOR=0.848	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,7,47:54:98:.:.:2336,1674,1530,261,0,98	14	0	0	0
chr13	32442597	32442597	G	A	exonic	N4BP2L2	.	nonsynonymous SNV	N4BP2L2:NM_001278432:exon7:c.C1895T:p.T632I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.02	B	0.019	B	0.832	N	1.000	N	1.01	L	.	.	-1.012	T	0.070	T	0.022	0.722	7.844	0.943	0.228	0.867	3.373	0.019	0.00443844781485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.18691	T	0.491	0.11760	T	0.007	0.14184	B	0.003	0.08700	B	0.831638	0.06945	N	1.078020	1	0.08975	N	.	.	.	.	.	.	-0.86	0.23372	N	0.094	0.08786	-1.0117	0.26385	T	0.070	0.28511	T	9	0.04801753	0.04197	T	0.004438	0.10875	T	0.019	0.03383	0.286	0.24440	0.258283824007	0.25425	0.018686205854986655	0.01822	0.0369210788179	0.03911	0.291594058275	0.09154	T	0.018313	0.14784	T	-0.336072	0.05665	T	-0.720521	0.04770	T	0.0327992998063564	0.02438	T	0.422958	0.11265	T	.	.	.	.	.	.	.	.	-2.853	0.08682	T	.	.	0.116	0.23219	B	.;.;.	.;.;.	0.897931	0.12718	9.238	0.69399156239135695	0.08959	0.01688	0.05383	N	AEFGBI	0.052434	0.09358	N	-0.910991806605928	0.10584	0.5064679	-0.92389193064361	0.11532	0.5880046	0.997030355211998	0.35217	0.653281	0.48532	0	0.659037	0.61890	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.31	0.943	0.18655	0.919000	0.28312	2.196000	0.31247	0.672000	0.70159	0.135000	0.23427	0.897000	0.27914	0.012000	0.09680	0.4357:0.2065:0.3578:0.0	3.373	0.06806	823	0.40596	.;.;.	.	.	.	.	.	Uncertain significance	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	1966.98	34	chr13	32442597	.	G	A	1966.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.584;DP=990;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.30;ReadPosRankSum=1.40;SOR=0.685	GT:AD:DP:GQ:PL	0/1:117,74:191:99:1981,0,3353	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	0/1:107,58:169:99:173,0,2160	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	0/1:132,53:189:99:.:.:408,0,3057	0	0	20	1
chr13	45713860	45713860	G	A	exonic	CBY2	.	nonsynonymous SNV	CBY2:NM_001286341:exon2:c.G754A:p.E252K	.	.	425	1085	12	0	0	12	0.00549954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.986	D	0.555	P	0.026	N	0.962	D	0.895	L	0.83	T	-0.815	T	0.128	T	0.295	3.030	16.11	4.98	2.583	1.364	15.093	0.072	.	.	0.0161741	0.0348	0	0.0047	0.008	0	0.0006	0.0192	0.0706	0.0047089	728	154602	rs112104044	0.0034	0.0034	0.0020	0.0049	0.0548	0.0033	0.0033	0.0535	0.0529	0.0009	6.105e-05	0	0.0003	0	0.0043	0.0001	0.0045	0.0548	0.0020	0.0020	0.0012	0.0029	0.0598	0.0018	0.0018	0.0541	0.0519	0.0002	0	0.0003	0	0	0	0	5.884e-05	0.0009	0.0598	0.024	0.47745	D	0.024	0.56640	D	0.986	0.61523	D	0.555	0.49371	P	0.025611	0.26059	N	0.325437	0.96201	0.38267	D	2.38	0.68558	M	0.83	0.49642	T	-1.52	0.36980	N	0.252	0.28498	-0.8147	0.54263	T	0.128	0.43625	T	10	0.0029319823	0.00047	T	.	.	.	0.072	0.21020	0.355	0.35571	.	.	0.25960505554505436	0.25874	0.939128243168	0.72154	0.39655315876	0.24589	T	0.069745	0.33786	T	-0.495082	0.00609	T	-0.44067	0.28733	T	0.0279785515396197	0.01686	T	0.727827	0.34232	T	0.12697403	0.29725	0.12216063	0.29468	0.12697403	0.29725	0.12216063	0.29468	-4.632	0.32646	T	.	.	0.084	0.10545	B	.;.;.	.;.;.	3.083105	0.41486	21.4	0.99838769866391386	0.91972	0.59812	0.31019	D	AEFDBI	0.162202	0.28835	N	0.122708721045619	0.47523	2.976889	0.0900300972591418	0.44046	2.693968	0.999998647468897	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.98	4.98	0.65679	2.395000	0.44113	8.102000	0.76560	0.674000	0.70861	0.304000	0.25361	1.000000	0.68203	0.004000	0.06068	0.0:0.0:1.0:0.0	15.093	0.71881	717	0.55835	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1162.98	34	chr13	45713860	.	G	A	1162.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.520;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.18;ReadPosRankSum=-4.230e-01;SOR=0.743	GT:AD:DP:GQ:PL	0/1:38,44:82:99:1177,0,942	20	0	1	0
chr13	51245330	51245330	G	A	exonic	FAM124A	.	nonsynonymous SNV	FAM124A:NM_145019:exon3:c.G119A:p.R40Q,	.	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.893	P	0.417	B	.	.	1.000	N	.	.	0.84	T	-1.068	T	0.044	T	0.044	-1.389	0.024	-0.317	-1.029	-0.810	.	0.049	.	.	0.00319489	0.0012	0.0006	0	0.0177	0	0.0005	0.0072	0.0012	0.0003752	58	154602	rs117053935	0.0026	0.0023	0.0026	0.0026	0.0348	0.0025	0.0025	0.0331	0.0324	0.0006	0.0004	0	0.0348	0.0015	0.0013	0.0005	0.0010	0.0011	0.0012	0.0012	0.0009	0.0016	0.0176	0.0011	0.0010	0.0147	0.0136	0.0006	0	0.0003	0	0.0176	0.0030	0	0.0003	0.0019	0.0014	0.335	0.12920	T	0.513	0.10714	T	0.893	0.49136	P	0.417	0.44992	B	.	.	.	.	1	0.08975	N	.	.	.	0.84	0.47477	T	-0.03	0.07444	N	0.097	0.07811	-1.0676	0.09948	T	0.044	0.18783	T	7	0.0028281212	0.00045	T	.	.	.	0.049	0.13647	.	.	0.151104730317	0.14643	0.061584561877155046	0.06098	0.308893039441	0.33204	0.367179602385	0.20426	T	.	.	.	-0.372767	0.03456	T	-0.77323	0.02663	T	0.00598467733637003	0.00066	T	0.415058	0.10864	T	.	.	.	.	.	.	.	.	-3.893	0.22197	T	.	.	0.086	0.10787	B	.	.	0.221064	0.06035	2.476	0.50180699955543218	0.04339	0.00608	0.02703	N	AEFBHCI	0.021774	0.01009	N	-1.10680595485064	0.06521	0.3004152	-1.36826055010262	0.03595	0.1680227	0.999993366850315	0.74766	0.495158	0.18159	0	0.59043	0.45803	0	0.535252	0.11790	0	0.567892	0.33627	0	.	.	0.158	-0.317	0.12104	-0.809000	0.04617	-1.287000	0.05811	-0.698000	0.04070	0.010000	0.18352	0.003000	0.18671	0.007000	0.07825	.	.	.	890	0.26919	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	781.33	33	chr13	51245330	.	G	A	781.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.723;DP=723;ExcessHet=0.0000;FS=4.802;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.175;SOR=0.936	GT:AD:DP:GQ:PL	0/1:33,31:64:99:795,0,843	19	0	1	1
chr13	52119332	52119332	G	C	exonic	NEK5	.	nonsynonymous SNV	NEK5:NM_001365552:exon4:c.C201G:p.F67L	.	.	503	1018	1	0	0	1	0.000490918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.997	D	0.953	D	0.000	D	1.000	N	0.225	N	2.02	T	-1.051	T	0.048	T	0.523	-0.106	3.481	2.62	0.617	0.615	7.610	0.179	0.00589589544927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.015e-07	6.842e-07	0	1.408e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.398	0.10553	T	0.181	0.29346	T	0.997	0.70673	D	0.953	0.69275	D	0.000104	0.50451	D	0.082365	0.999837	0.20152	N	-0.315	0.03579	N	2.02	0.21119	T	-2.47	0.53898	N	0.313	0.35301	-1.0514	0.14009	T	0.048	0.20355	T	10	0.17366493	0.32205	T	0.005896	0.15340	T	0.179	0.44899	0.539	0.65018	0.119812018005	0.11559	0.25013189208257236	0.24927	0.264227936891	0.28972	0.588705062866	0.51311	T	0.006967	0.06393	T	-0.165742	0.25880	T	-0.475853	0.24888	T	0.887069940567017	0.53753	D	0.855914	0.54393	D	0.22246984	0.44847	0.1384065	0.33055	0.22246984	0.44848	0.1384065	0.33055	-6.23	0.48165	T	.	.	0.608	0.69600	P	.;.;.	.;.;.	1.848151	0.23478	16.03	0.87120193306818783	0.17002	0.32719	0.24654	N	AEFGBI	0.221212	0.34587	N	-0.159243753953321	0.34843	1.993985	-0.211712780309337	0.31113	1.757882	0.999639355762818	0.41205	0.516011	0.20929	0	0.59043	0.45803	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.3	2.62	0.30337	0.516000	0.22523	3.116000	0.36380	0.676000	0.76740	0.155000	0.23727	0.999000	0.35428	0.861000	0.40843	0.4103:0.0:0.5897:0.0	7.610	0.27290	756	0.51065	.;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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1286.98	36	chr13	52119332	.	G	C	1286.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.038;DP=822;ExcessHet=0.0000;FS=0.684;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.38;ReadPosRankSum=1.44;SOR=0.797	GT:AD:DP:GQ:PL	0/1:70,54:124:99:1301,0,1764	20	0	1	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	0/1:106,37:149:58:58,0,1781	5	0	15	1
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|1:48,13,0:61:99:0|1:99970413_TGGC_T:326,0,1726,470,1766,2236:99970413	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	0/1:144,45:197:99:177,0,3579	6	0	10	5
chr13	102747739	102747739	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G2958C:p.K986N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.50809	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.071324736	0.10499	T	.	.	.	.	.	.	.	0.0716867268079	0.06686	0.029755569922110755	0.02924	.	.	0.339609414339	0.16379	T	.	.	.	-0.183105	0.23276	T	-0.500794	0.22266	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	0.63867	A	.	.	2.482158	0.32012	18.91	0.76786657609047815	0.11609	0.06593	0.12608	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.974835266602416	0.29578	0.07523	0.01759	0	0.085267	0.02369	0	0.063197	0.01477	0	0.091162	0.02695	0	0.166294	0.28576	4.21	2.49	0.29274	0.370000	0.20166	-0.592000	0.08316	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.974000	0.55675	0.0:0.7826:0.0:0.2174	6.417	0.20924	939	0.14249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2727	319.73	161	chr13	102747739	.	C	G,T	319.73	.	AC=3,3;AF=0.136,0.136;AN=22;BaseQRankSum=-5.526e+00;DP=4353;ExcessHet=1.7912;FS=296.348;InbreedingCoeff=-0.3527;MLEAC=4,4;MLEAF=0.182,0.182;MQ=60.00;MQRankSum=0.00;QD=0.21;ReadPosRankSum=1.04;SOR=13.436	GT:AD:DP:GQ:PL	0/2:168,30,55:253:14:14,281,3972,0,3555,3620	5	0	3	10
chr13	102807511	102807511	A	G	exonic	BIVM;BIVM-ERCC5	.	nonsynonymous SNV	BIVM-ERCC5:NM_001204425:exon1:c.A244G:p.I82V	.	.	7	1501	14	0	0	14	0.00464191	.	.	1678566	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.74	T	0.005	B	0.006	B	0.003	N	1.000	D	0	N	.	.	-1.059	T	0.029	T	0.1	0.929	8.784	-1.0	-0.318	0.150	1.398	0.018	.	0.0084	0.00159744	0.0054	0.0011	0.0022	0	0.0015	0.0087	0.0033	0.0018	0.0054592	844	154602	rs41281670	0.0083	0.0083	0.0085	0.0082	0.0101	0.0082	0.0082	0.0099	0.0099	0.0016	0.0024	0.0036	2.519e-05	0.0026	0.0024	0.0101	0.0061	0.0024	0.0057	0.0057	0.0061	0.0052	0.0101	0.0054	0.0052	0.0095	0.0092	0.0016	0.0055	0.0026	0.0026	0	0.0030	0	0.0101	0.0052	0.0029	0.735	0.03753	T	0.912	0.02943	T	0.0	0.02946	B	0.0	0.01387	B	0.002807	0.35900	N	0.271361	1	0.81001	D	0.255	0.09829	N	.	.	.	-0.03	0.07444	N	0.064	0.03613	-1.0592	0.11956	T	0.029	0.12365	T	9	0.0057371855	0.00128	T	.	.	.	0.018	0.03083	.	.	0.0806252709748	0.07271	0.13522124392487372	0.13446	0.226095506065	0.25162	.	.	.	0.011021	0.09882	T	-0.563728	0.00241	T	-0.574857	0.15007	T	0.000305893333929741	0.00002	T	0.619338	0.23774	T	0.012635825	0.00038	0.017487643	0.00033	0.012635825	0.00038	0.017487643	0.00033	-3.277	0.13442	T	.	.	0.062	0.02118	B	.;.;.	.;.;.	0.309887	0.06852	3.380	0.58294768230434069	0.05961	0.17355	0.19801	N	AEFDGBCI	0.080878	0.16358	N	-1.20503349960395	0.04925	0.2233756	-1.04527553931637	0.08805	0.4347713	0.99998798030355	0.51787	0.732398	0.92422	0	0.709663	0.81188	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.96	-1.0	0.09675	0.157000	0.16219	0.811000	0.21752	-0.064000	0.16601	0.224000	0.24579	0.499000	0.25194	0.996000	0.76049	0.4952:0.102:0.1905:0.2123	1.398	0.02128	918	0.19598	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3127.98	34	chr13	102807511	.	A	G	3127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.580e-01;DP=951;ExcessHet=0.0000;FS=2.754;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=1.25;SOR=0.682	GT:AD:DP:GQ:PL	0/1:129,125:254:99:3142,0,3336	20	0	1	0
chr13	110183066	110183066	C	G	exonic	COL4A1	.	nonsynonymous SNV	COL4A1:NM_001845:exon28:c.G2022C:p.R674S,	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Autosomal dominant;Brain small vessel disease with or without ocular anomalies, Autosomal dominant;Porencephaly 1, Autosomal dominant	.	0	1518	2	2	0	6	0.00197239	.	.	2101758	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.74	T	0.99	D	0.908	P	0.005	N	1.000	D	0.09	N	-3.2	D	-0.058	T	0.636	D	0.51	2.289	13.61	1.89	0.484	0.201	5.593	0.444	0.152998747257	.	.	0.0001	0	0	0	0	1.691e-05	0	0.0007	7.76e-05	12	154602	rs755517991	4.723e-05	4.72e-05	2.452e-05	7.018e-05	0.0007	3.796e-05	3.478e-05	0.0004	0.0004	2.988e-05	0	0	0	0	0.0007	6.296e-06	0.0002	0.0005	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	0.424	0.09717	T	0.413	0.14412	T	0.99	0.63424	D	0.908	0.64494	P	0.004649	0.33526	N	0.290655	0.999363	0.81001	D	0.73	0.18813	N	-3.2	0.93231	D	-1.39	0.34397	N	0.497	0.53006	-0.0578	0.81040	T	0.636	0.87254	D	10	0.20525655	0.36746	T	0.152999	0.83433	D	0.444	0.74657	0.4	0.42917	0.812918973875	0.81116	0.497208597543253	0.49641	0.43663499719	0.43747	0.489539980888	0.37374	T	0.266972	0.63896	T	-0.15718	0.27196	T	-0.102761	0.63184	T	0.156572744250298	0.17615	T	0.755224	0.37818	T	0.080579065	0.18470	0.09218399	0.21711	0.080579065	0.18470	0.09218399	0.21711	-2.468	0.05566	T	0.2025678443056992	0.26946	0.353	0.56767	A	.	.	2.277684	0.29118	18.02	0.99522657833137029	0.69346	0.63941	0.32247	D	AEFBI	0.394902	0.47198	N	-0.13273935694405	0.35971	2.073091	-0.133635093146052	0.34043	1.953962	0.99134052096159	0.32456	0.732398	0.92422	0	0.610034	0.51514	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	4.7	1.89	0.24700	0.287000	0.18678	-0.699000	0.07803	-0.176000	0.10722	0.278000	0.25122	0.008000	0.19753	0.762000	0.36218	0.1543:0.5906:0.0:0.2551	5.593	0.16593	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	1983.98	35	chr13	110183066	.	C	G	1983.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.200e-01;DP=868;ExcessHet=0.0000;FS=0.578;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-1.780e-01;SOR=0.793	GT:AD:DP:GQ:PL	0/1:90,80:170:99:1998,0,2289	20	0	1	0
chr13	110456942	110456942	-	ATCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.782_783insCGGCATCAGCCCCACGGACGCCTGGGGTCCCACGCAGAT:p.Q261delinsHGISPTDAWGPTQM,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.675e-05	1.751e-05	4.763e-05	4.61e-05	6.815e-05	2.14e-05	1.547e-05	2.59e-05	1.645e-05	0	6.655e-05	0	0	0	0	6.815e-05	0	3.383e-05	0.0016	0.0016	0.0018	0.0013	0.0021	0.0013	0.0012	0.0016	0.0015	0.0012	0	0.0008	0.0017	0.0005	0.0012	0	0.0021	0.0015	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4291.37	62	chr13	110456942	.	C	G,CATCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG	4291.37	.	AC=8,1;AF=0.444,0.056;AN=18;BaseQRankSum=2.30;DP=1158;ExcessHet=7.4688;FS=8.528;InbreedingCoeff=-0.4044;MLEAC=13,2;MLEAF=0.722,0.111;MQ=48.92;MQRankSum=2.86;QD=7.68;ReadPosRankSum=-4.184e+00;SOR=1.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,4,0:35:75:0|1:110456942_C_G:75,0,1099,168,1112,1279:110456942	0	0	8	12
chr13	112547554	112547568	TGGGAAAGTCGCGCG	-	exonic	TUBGCP3	.	nonframeshift deletion	TUBGCP3:NM_001286279:exon10:c.1220_1234del:p.T412_P416del,	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:70,87,0,0,0,0:157:99:.:.:3183,0,2583,3393,2856,6250,3393,2856,6250,6250,3393,2856,6250,6250,6250,3393,2856,6250,6250,6250,6250	7	0	5	0
chr13	112547538	112547568	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	0	exonic	TUBGCP3	.	.	.	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:70,87,0,0,0,0:157:99:.:.:3183,0,2583,3393,2856,6250,3393,2856,6250,6250,3393,2856,6250,6250,6250,3393,2856,6250,6250,6250,6250	7	0	5	0
chr13	112547568	112547568	-	TGGGAAAGTCGCGCG	exonic	TUBGCP3	.	nonframeshift insertion	TUBGCP3:NM_001286279:exon10:c.1219_1220insCGCGCGACTTTCCCA:p.P416_M417insTRDFP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:70,87,0,0,0,0:157:99:.:.:3183,0,2583,3393,2856,6250,3393,2856,6250,6250,3393,2856,6250,6250,6250,3393,2856,6250,6250,6250,6250	7	0	5	0
chr13	113404152	113404152	C	0	exonic	LOC101928841	.	.	.	.	.	74	109	6	10	27	53	0.106557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	13067.7	97	chr13	113404152	.	C	T,*	13067.7	.	AC=18,3;AF=0.500,0.083;AN=36;BaseQRankSum=1.82;DP=1904;ExcessHet=0.0725;FS=0.000;InbreedingCoeff=0.1863;MLEAC=20,3;MLEAF=0.556,0.083;MQ=55.13;MQRankSum=-6.490e-01;QD=9.73;ReadPosRankSum=-4.236e+00;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:72,33,0:105:99:.:.:805,0,1761,1016,1859,2876	4	5	6	3
chr13	114301925	114301925	G	A	exonic	UPF3A	.	nonsynonymous SNV	UPF3A:NM_001353644:exon7:c.G599A:p.S200N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	B	0.006	B	0.609	N	0.995	N	0.665	N	1.46	T	-0.921	T	0.248	T	0.01	-0.068	3.670	1.66	0.528	0.460	3.160	0.077	0.0131570505153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.393	0.10730	T	0.789	0.05707	T	0.002	0.15535	B	0.003	0.12133	B	0.608642	0.10888	N	0.847047	0.995395	0.23301	N	1.01	0.25309	L	-1.42	0.80645	T	-0.42	0.14193	N	0.106	0.12198	-0.9209	0.45431	T	0.248	0.61704	T	9	0.08412802	0.14067	T	0.013157	0.32344	T	0.077	0.22490	0.218	0.13932	0.826173596387	0.82452	0.028771188836604556	0.02827	0.161903528534	0.18264	0.361519306898	0.19607	T	0.001425	0.00883	T	-0.199017	0.20947	T	-0.52365	0.19925	T	0.0504586418347531	0.05581	T	0.519248	0.16884	T	0.019892972	0.00530	0.033765323	0.02327	0.019892972	0.00530	0.033765323	0.02326	-5.504	0.41905	T	.	.	0.086	0.17700	B	.;.	.;.	0.211766	0.05954	2.392	0.75584978553886684	0.11132	0.71590	0.35079	D	AEFBI	0.084446	0.17114	N	-0.564472322985564	0.20031	1.053027	-0.470573285432233	0.22969	1.250237	0.809908035207129	0.24336	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.94	1.66	0.23081	0.580000	0.23505	0.289000	0.16851	0.676000	0.76740	1.000000	0.71638	0.000000	0.08366	0.027000	0.12703	0.3857:0.0:0.4205:0.1938	3.160	0.06128	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	0.06667	91.67	58	chr13	114301925	.	G	A	91.67	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-2.081e+00;DP=1079;ExcessHet=0.1128;FS=235.703;InbreedingCoeff=-0.1606;MLEAC=3;MLEAF=0.100;MQ=53.56;MQRankSum=-4.630e-01;QD=0.76;ReadPosRankSum=0.970;SOR=8.349	GT:AD:DP:GQ:PL	0/1:42,21:63:44:44,0,954	13	0	2	6
chr14	20641346	20641346	G	T	exonic	OR6S1	.	nonsynonymous SNV	OR6S1:NM_001001968:exon1:c.C346A:p.L116M,	.	.	425	1022	71	4	0	79	0.0372115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.99	D	0.895	P	0.002	N	1.000	N	2.12	M	2.6	T	-1.089	T	0.059	T	0.339	2.468	14.21	4.32	1.329	0.858	11.814	0.106	.	0.0070	0.00678914	0.0100	0.0009	0.0073	0.0002	0.0142	0.0092	0.0132	0.0239	0.0095924	1483	154602	rs72659934	0.0096	0.0096	0.0091	0.0102	0.0251	0.0095	0.0094	0.0242	0.0238	0.0011	0.0058	0.0066	0.0001	0.0151	0.0186	0.0090	0.0093	0.0251	0.0073	0.0073	0.0067	0.0080	0.0243	0.0069	0.0068	0.0207	0.0193	0.0013	0.0164	0.0080	0.0049	0.0008	0.0157	0.0068	0.0087	0.0100	0.0243	0.002	0.72154	D	0.005	0.72224	D	0.99	0.63424	D	0.895	0.63489	P	0.002465	0.36499	N	0.000000	0.999994	0.08975	N	3.03	0.86425	M	2.6	0.13204	T	-1.75	0.41428	N	0.245	0.27673	-1.0891	0.05684	T	0.059	0.24760	T	10	0.0075003207	0.00170	T	.	.	.	0.106	0.30130	.	.	.	.	0.08102884940831236	0.08037	0.0777633554608	0.08748	0.300130873919	0.10420	T	0.007311	0.06724	T	-0.483694	0.00704	T	-0.449316	0.27773	T	0.0483692759940438	0.05211	T	0.938006	0.76748	D	0.50906944	0.67625	0.53427285	0.73088	0.50906944	0.67626	0.53427285	0.73089	-8.335	0.63331	D	.	.	0.279	0.51236	B	.	.	2.848611	0.37605	20.5	0.99636242048711365	0.76387	0.22463	0.21755	N	AEFBI	0.095467	0.19287	N	0.367726829928538	0.59681	4.14961	0.291694043039854	0.55051	3.668843	0.146601963832402	0.17369	0.59774	0.34471	0	0.550933	0.16991	0	0.547309	0.15389	0	0.63947	0.58350	0	.	.	5.22	4.32	0.50899	0.678000	0.24956	1.260000	0.25225	0.656000	0.54149	0.239000	0.24738	0.767000	0.26670	0.950000	0.49671	0.0864:0.0:0.9136:0.0	11.814	0.51473	940	0.13648	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1829.98	80	chr14	20641346	.	G	T	1829.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.789e+00;DP=1786;ExcessHet=0.0000;FS=2.081;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-8.050e-01;SOR=0.898	GT:AD:DP:GQ:PL	0/1:72,73:145:99:1844,0,1967	20	0	1	0
chr14	20781964	20781964	C	T	exonic	RNASE6	.	nonsynonymous SNV	RNASE6:NM_005615:exon2:c.C265T:p.R89W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.007	B	0.006	B	0.108	N	1.000	N	0.895	L	-0.79	T	-0.970	T	0.215	T	0.12	1.200	9.876	-2.87	-0.695	-1.506	0.827	0.107	0.0257866291064	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs143479557	1.505e-05	1.505e-05	1.77e-05	1.238e-05	1.978e-05	9.85e-06	8.41e-06	1.295e-05	1.106e-05	0	0	0	0	0	0	1.978e-05	0	0	1.972e-05	1.97e-05	1.285e-05	2.69e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.143	0.25355	T	0.01	0.65728	D	0.007	0.14184	B	0.006	0.12133	B	0.107763	0.02609	N	1.849040	1	0.08975	N	2.92	0.84325	M	-0.79	0.73739	T	-4.08	0.74742	D	0.088	0.06587	-0.9702	0.37157	T	0.215	0.57626	T	10	0.099426925	0.18042	T	0.025787	0.48740	D	0.107	0.30369	0.481	0.56142	0.558227216974	0.55483	0.3618878441233474	0.36102	0.0843459480316	0.09530	0.207278490067	0.00701	T	0.095159	0.39563	T	-0.187184	0.22672	T	-0.491167	0.23268	T	0.11430280490232	0.13864	T	0.00743259	0.00033	T	0.16960628	0.37486	0.1811306	0.40956	0.16960628	0.37486	0.1811306	0.40955	-5.046	0.37336	T	.	.	0.097	0.15743	B	.	.	0.080291	0.04866	1.456	0.61595722779484108	0.06748	0.03125	0.08072	N	AEFDGBCI	0.128884	0.24684	N	-1.54611813575727	0.01557	0.06803222	-1.59339061635382	0.01695	0.07701912	0.999995496079746	0.74766	0.615755	0.39536	0	0.52208	0.09955	0	0.618376	0.41669	0	0.650387	0.60102	1	.	.	5.06	-2.87	0.05359	-1.406000	0.02596	-6.597000	0.01355	-2.710000	0.00207	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3745:0.2793:0.1221:0.224	0.827	0.01052	570	0.70478	Ribonuclease A-domain|Ribonuclease A-domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2811.98	33	chr14	20781964	.	C	T	2811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.31;DP=894;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.06;ReadPosRankSum=-1.147e+00;SOR=0.722	GT:AD:DP:GQ:PL	0/1:96,104:200:99:2826,0,2170	20	0	1	0
chr14	23990202	23990202	G	A	exonic	DHRS4;DHRS4L2	.	nonsynonymous SNV	DHRS4:NM_001282989:exon2:c.G149A:p.R50Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.369	B	0.074	B	0.038	N	1.000	D	1.305	L	-2.53	D	-0.533	T	0.441	T	0.419	-0.291	2.612	1.43	0.539	1.770	8.065	0.343	0.0852160012878	0.0007	0.000599042	0.0005	0.0009	0.0003	0	0	0.0008	0.0011	0	0.0005498	85	154602	rs145901014	0.0007	0.0007	0.0007	0.0007	0.0009	0.0007	0.0006	0.0008	0.0008	0.0007	0.0002	3.831e-05	0	0	0.0003	0.0009	0.0006	1.161e-05	0.0006	0.0006	0.0006	0.0006	0.0007	0.0005	0.0004	0.0006	0.0005	0.0007	0	0.0003	0	0	0	0	0.0007	0	0	0.424	0.17761	T	0.303	0.20164	T	0.369	0.34063	B	0.074	0.28220	B	0.037968	0.24339	N	0.441828	1	0.81001	D	.	.	.	-2.53	0.89430	D	-2.04	0.46842	N	0.323	0.40963	-0.5332	0.67420	T	0.441	0.77884	T	10	0.04656431	0.03863	T	0.085216	0.74488	D	0.343	0.66488	.	.	0.819678790864	0.81798	0.4541356248040898	0.45331	0.0417195816049	0.04484	.	.	.	0.023016	0.69360	T	-0.264243	0.12407	T	-0.176971	0.56802	T	0.00795630018498107	0.00094	T	0.819518	0.52533	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.24329	B	.;.;.;.;.;.	.;.;.;.;.;.	1.974917	0.25085	16.64	0.93834530548849349	0.23824	0.56325	0.30088	D	AEFDBIJ	0.119235	0.23280	N	-0.766411915793869	0.14191	0.7049539	-0.732420304742687	0.16155	0.8532807	0.999747814779314	0.42466	0.706298	0.61202	0	0.685571	0.66316	0	0.709663	0.75317	0	0.550183	0.17644	0	.	.	3.36	1.43	0.21585	1.689000	0.37319	2.113000	0.30672	-0.215000	0.08222	0.969000	0.34210	0.295000	0.24188	0.004000	0.06068	0.2357:0.0:0.7643:0.0	8.065	0.29818	749	0.51929	.;.;.;.;.;.	.	.	.	.	.	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	3514.98	36	chr14	23990202	.	G	A	3514.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=973;ExcessHet=0.0000;FS=6.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.84;MQRankSum=0.708;QD=13.21;ReadPosRankSum=-6.100e-01;SOR=0.753	GT:AD:DP:GQ:PL	0/1:124,142:266:99:3529,0,2763	20	0	1	0
chr14	24304203	24304203	C	T	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_174913:exon8:c.C1573T:p.H525Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.999	D	0.996	D	0.000	D	1.000	D	2.025	M	2.98	T	-1.082	T	0.069	T	0.907	4.137	21.4	5.34	2.776	4.391	17.977	0.297	0.0104478006467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.25154	T	0.0	0.92824	D	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.17	0.60663	M	2.98	0.09356	T	-2.95	0.61580	D	0.795	0.79118	-1.0818	0.07003	T	0.069	0.28080	T	10	0.85942125	0.85154	D	0.010448	0.27001	T	0.297	0.61730	0.631	0.76699	0.507152531357	0.50353	0.6347662627172405	0.63410	0.878080247472	0.69652	0.658800363541	0.61237	T	0.216343	0.57848	T	0.152509	0.69502	D	-0.0187073	0.69113	D	0.969996154308319	0.68789	D	.	.	.	0.24089125	0.46998	0.25929606	0.51675	0.24089125	0.46998	0.25929606	0.51674	-8.598	0.65076	D	.	.	0.278	0.51112	B	.	.	4.193318	0.63219	24.6	0.99733181118509961	0.82904	0.94388	0.61006	D	AEFBI	0.663079	0.63272	D	0.486770214352674	0.66317	4.934497	0.484159207621998	0.66939	5.017885	0.999999987155725	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	5.34	0.75982	3.240000	0.51066	4.822000	0.45127	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.193000	0.21690	0.0:1.0:0.0:0.0	17.977	0.89051	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	0.02381	2028.98	34	chr14	24304203	.	C	T	2028.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.036e+00;DP=898;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.98;ReadPosRankSum=-1.197e+00;SOR=0.690	GT:AD:DP:GQ:PL	0/1:52,75:127:99:2043,0,1346	20	0	1	0
chr14	24414693	24414693	C	A	exonic	NYNRIN	.	nonsynonymous SNV	NYNRIN:NM_025081:exon9:c.C2944A:p.P982T,	.	.	415	1085	22	0	0	22	0.0100365	.	.	2810324	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.952	P	0.42	B	.	.	1.000	N	1.61	L	2.72	T	-1.068	T	0.038	T	0.158	2.872	15.57	3.66	1.136	0.230	9.964	0.105	0.0102701104823	0.0013	0.000998403	0.0012	0.0006	0.0022	0	0	0.0016	0.0011	0.0003	0.0010802	167	154602	rs181160538	0.0009	0.0009	0.0009	0.0010	0.0078	0.0009	0.0009	0.0060	0.0054	0.0009	0.0021	0.0106	0	1.874e-05	0.0078	0.0007	0.0022	0.0003	0.0012	0.0012	0.0012	0.0012	0.0036	0.0010	0.0010	0.0028	0.0026	0.0004	0	0.0036	0.0112	0	0	0.0306	0.0008	0.0033	0.0004	0.043	0.41364	D	0.004	0.74150	D	0.952	0.54136	P	0.42	0.45080	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	2.72	0.11947	T	-2.18	0.49187	N	0.103	0.08646	-1.0676	0.09948	T	0.038	0.16290	T	9	0.0054706335	0.00121	T	0.01027	0.26610	T	0.105	0.29889	.	.	0.241664281697	0.23763	0.5110794306933167	0.51029	0.226695250779	0.25215	0.28573769331	0.08304	T	0.033286	0.22852	T	-0.584824	0.00180	T	-0.61962	0.11214	T	0.0159022332931623	0.00375	T	0.465053	0.13602	T	0.039496146	0.05463	0.05341085	0.08989	0.039496146	0.05462	0.05341085	0.08989	-3.601	0.17871	T	.	.	0.078	0.06710	B	.	.	1.317899	0.17215	13.03	0.99028392147768396	0.50742	0.16373	0.19358	N	AEFBI	0.050674	0.08881	N	-0.512461320319969	0.21676	1.15211	-0.642215251805691	0.18413	0.9835417	0.97865038151807	0.29945	0.706548	0.73137	0	0.627178	0.54094	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.54	3.66	0.41111	0.795000	0.26632	0.199000	0.15831	-0.953000	0.02023	0.009000	0.18154	0.000000	0.08366	0.004000	0.06068	0.2025:0.7975:0.0:0.0	9.964	0.40885	814	0.42100	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	888.98	40	chr14	24414693	.	C	A	888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.990e-01;DP=945;ExcessHet=0.0000;FS=6.951;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.66;ReadPosRankSum=-2.750e-01;SOR=0.985	GT:AD:DP:GQ:PL	0/1:55,37:92:99:903,0,1541	20	0	1	0
chr14	37622326	37622326	G	A	exonic	TTC6	.	nonsynonymous SNV	TTC6:NM_001310135:exon3:c.G310A:p.A104T,	.	.	416	1097	7	2	0	11	0.00498866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.721	N	.	.	0.55	N	-0.7	T	-0.808	T	0.219	T	0.117	4.405	23.3	3.62	1.011	0.713	8.865	0.069	0.215393103698	.	.	0.0014	0	0.0096	0	.	0.0043	0	0.0003	0.0002393	37	154602	rs748642355	0.0007	0.0007	0.0008	0.0007	0.0225	0.0007	0.0007	0.0193	0.0181	0.0003	0.0008	0.0033	0	0.0002	0.0225	0.0006	0.0015	0.0004	0.0008	0.0008	0.0008	0.0008	0.0010	0.0007	0.0007	0.0008	0.0008	0.0002	0	0.0008	0.0032	0	9.429e-05	0.0479	0.0010	0.0028	0.0002	0.361	0.11882	T	0.342	0.17910	T	.	.	.	.	.	.	0.721412	0.06316	N	1.183550	.	.	.	.	.	.	-0.7	0.72785	T	-1.07	0.27876	N	0.129	0.12341	-0.8078	0.54683	T	0.219	0.58214	T	6	0.004866183	0.00104	T	0.215393	0.87506	D	0.069	0.20116	0.339	0.32979	0.527759996296	0.52422	.	.	0.0339664126179	0.03563	.	.	.	0.014476	0.12316	T	-0.449685	0.01134	T	-0.454096	0.27244	T	0.0599981270768644	0.07169	T	0.451655	0.12799	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14888	B	.	.	1.120000	0.15057	11.55	0.99547085722781181	0.70898	0.15720	0.19049	N	AEFDBHCIJ	.	.	.	-0.479049624249753	0.22769	1.218073	-0.524462704612144	0.21490	1.162756	0.999999639181731	0.74766	0.443343	0.08805	1	0.573888	0.26702	0	0.666236	0.60216	0	0.603991	0.37454	0	.	.	4.51	3.62	0.40616	0.737000	0.25812	0.170000	0.15507	0.526000	0.24426	0.001000	0.13787	0.000000	0.08366	0.032000	0.13371	0.107:0.0:0.893:0.0	8.865	0.34436	682	0.59757	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3161.11	33	chr14	37622326	.	G	A	3161.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.29;DP=901;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=-2.300e-02;SOR=0.691	GT:AD:DP:GQ:PL	0/1:62,50:112:99:1369,0,1628	19	0	2	0
chr14	45231234	45231234	T	C	exonic	MIS18BP1	.	nonsynonymous SNV	MIS18BP1:NM_018353:exon8:c.A1501G:p.I501V,	.	.	.	.	.	.	.	.	.	.	.	3285962	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.955	N	1.000	N	-0.06	N	2.29	T	-0.972	T	0.014	T	0.015	-2.495	0.003	-0.766	-0.189	-0.812	0.728	0.034	0.00129813059012	.	.	6.596e-05	0	0	0	0	1.5e-05	0	0.0004	5.17e-05	8	154602	rs762041031	2.737e-05	2.736e-05	1.362e-05	4.126e-05	0.0003	2.063e-05	1.816e-05	0.0002	0.0001	0	0	0	0	0	0.0002	1.439e-05	1.657e-05	0.0003	3.284e-05	3.283e-05	2.568e-05	4.033e-05	0.0002	1.26e-05	7.98e-06	2.261e-05	9.07e-06	2.412e-05	0	0.0001	0	0	0	0	1.47e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.955193	0.07682	N	1.019820	1	0.08975	N	0.26	0.09897	N	2.29	0.17113	T	-0.01	0.07155	N	0.074	0.04790	-0.9721	0.36755	T	0.014	0.05753	T	10	0.029276848	0.01055	T	0.001298	0.01809	T	0.034	0.08419	.	.	0.126345400529	0.12197	0.13789195703558432	0.13713	0.0247330281271	0.02516	0.319984138012	0.13418	T	0.001966	0.01375	T	-0.658426	0.00064	T	-0.861594	0.00826	T	0.0414845811438304	0.03960	T	0.426857	0.11480	T	0.019370545	0.00467	0.0185041	0.00057	0.019370545	0.00466	0.0185041	0.00057	-3.586	0.17654	T	.	.	0.079	0.07177	B	.	.	-0.937155	0.00866	0.031	0.13809242625519849	0.00284	0.02408	0.06816	N	AEFBI	0.031810	0.03473	N	-1.343848976368	0.03189	0.1420399	-1.33051234150317	0.04041	0.1897805	0.0016924132055061	0.08790	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.86	-0.766	0.10465	-0.832000	0.04507	-1.111000	0.06297	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.1611:0.1952:0.1668:0.4768	0.728	0.00891	795	0.45444	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2862.08	35	chr14	45231234	.	T	C	2862.08	.	AC=2;AF=0.048;AN=42;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.91;SOR=0.888	GT:AD:DP:GQ:PL	1/1:0,99:99:99:2890,297,0	20	1	0	0
chr14	54702323	54702323	G	A	exonic	SAMD4A	.	nonsynonymous SNV	SAMD4A:NM_001161576:exon2:c.G458A:p.R153H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	1.0	D	0.998	D	0.000	D	0.970	D	1.175	L	-0.79	T	-0.344	T	0.482	T	0.803	5.138	32	6.17	2.941	7.845	20.879	0.341	0.0544439241297	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1381801186	6.841e-06	6.84e-06	6.806e-06	6.875e-06	1.159e-05	3.46e-06	2.52e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	1.656e-05	1.159e-05	3.307e-05	3.289e-05	3.875e-05	2.71e-05	4.832e-05	1.267e-05	8.02e-06	1.181e-05	6.28e-06	4.832e-05	0	0	0	0	0	0	4.45e-05	0	0	0.063	0.36709	T	0.076	0.42614	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.969843	0.38756	D	1.32	0.33002	L	-0.79	0.73739	T	-3.08	0.63323	D	0.707	0.71232	-0.3436	0.73739	T	0.482	0.80210	T	10	0.6458488	0.69321	D	0.054444	0.65859	D	0.341	0.66297	0.241	0.17371	0.346610688518	0.34274	0.5318729353260168	0.53112	1.61165418836	0.88912	0.687894940376	0.65403	T	0.202737	0.56100	T	0.204772	0.74338	D	0.0563643	0.74004	D	0.822661314772034	0.47970	D	0.933007	0.74900	D	0.27109322	0.50180	0.17842607	0.40510	0.27109322	0.50180	0.17842607	0.40509	-7.187	0.55388	T	.	.	0.182	0.39494	B	.;.;.	.;.;.	4.695860	0.75298	26.3	0.99955903119822742	0.99975	0.97175	0.73131	D	AEFGBI	0.904979	0.85593	D	0.692981332886665	0.79172	7.021976	0.742562003232024	0.85601	8.629335	1.0	0.98316	0.67177	0.52595	0	0.588066	0.40923	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	6.17	6.17	0.99707	7.881000	0.85735	11.914000	0.99653	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.849000	0.40138	0.0:0.0:1.0:0.0	20.879	0.99870	764	0.49969	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2044.98	33	chr14	54702323	.	G	A	2044.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.11;DP=884;ExcessHet=0.0000;FS=1.220;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=0.574;SOR=0.843	GT:AD:DP:GQ:PL	0/1:93,75:168:99:2059,0,2318	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	0/1:36,28:64:99:278,0,686	0	0	21	0
chr14	61970218	61970218	C	A	exonic	SYT16	.	nonsynonymous SNV	SYT16:NM_001367652:exon2:c.C100A:p.L34M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.771e-06	0	0	.	0	0	.	.	0	.	.	.	0	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16277835	0.30498	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319168	0.06405	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.42332	B	.	.	1.561910	0.20005	14.54	0.65622932473506601	0.07825	0.78585	0.38793	D	AEFGI	.	.	.	.	.	.	.	.	.	0.240648770621095	0.18567	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.058706	0.01089	0	0.176411	0.29265	4.72	0.742	0.17490	0.766000	0.26225	1.447000	0.26575	-0.172000	0.11096	0.999000	0.42656	1.000000	0.68203	0.986000	0.61781	0.1425:0.5829:0.1263:0.1484	3.681	0.07846	829	0.39537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	32.13	1	chr14	61970218	.	C	A	32.13	.	AC=1;AF=0.050;AN=20;BaseQRankSum=0.00;DP=49;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1581;MLEAC=2;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=8.03;ReadPosRankSum=-1.383e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:37:37,0,37	9	0	1	11
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	0/1:125,45:170:74:.:.:74,0,2336	6	0	14	1
chr14	64738782	64738782	G	C	exonic	PLEKHG3	.	nonsynonymous SNV	PLEKHG3:NM_001308147:exon15:c.G1445C:p.R482T,	.	.	418	1097	7	0	0	7	0.00318037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.718	P	0.288	B	0.013	N	1.000	D	1.95	M	1.46	T	-1.085	T	0.059	T	0.27	2.621	14.73	2.05	0.628	2.800	5.310	0.044	0.0106807432548	0.0002	0.000998403	0.0022	0	0.0024	0	0	0.0006	0	0.0078	0.0008279	128	154602	rs146233369	0.0006	0.0006	0.0004	0.0008	0.0061	0.0005	0.0005	0.0057	0.0055	6.032e-05	0.0004	0	2.555e-05	0	0.0038	0.0002	0.0007	0.0061	0.0004	0.0004	0.0003	0.0006	0.0050	0.0004	0.0003	0.0034	0.0029	7.215e-05	0	0.0005	0.0003	0	0	0.0136	0.0004	0.0005	0.0050	0.002	0.72154	D	0.589	0.18125	T	0.589	0.42284	P	0.288	0.40614	B	0.013202	0.28915	N	0.333498	1	0.81001	D	2.48	0.72069	M	0.96	0.42888	T	-3.27	0.66085	D	0.365	0.49237	-1.0851	0.06389	T	0.059	0.24612	T	10	0.0068308115	0.00155	T	0.010681	0.27493	T	0.044	0.11924	.	.	0.427139414373	0.42328	0.28526189739571284	0.28439	0.296477022093	0.32036	0.325851082802	0.14306	T	0.030	0.21560	T	-0.454253	0.01066	T	-0.423637	0.30660	T	0.019327726132529	0.00638	T	0.579042	0.21881	T	0.11241964	0.26559	0.07752393	0.17277	0.11241964	0.26559	0.07752393	0.17277	-5.827	0.44809	T	.	.	0.117	0.40634	B	.;.;.;.	.;.;.;.	2.725465	0.35659	19.96	0.9671754665093576	0.30836	0.74454	0.36423	D	AEFDBCI	0.244885	0.36591	N	-0.0589792636731258	0.39202	2.308036	-0.0112146460580841	0.39208	2.321204	0.976547586801716	0.29735	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.3	2.05	0.25860	2.193000	0.42291	4.462000	0.43463	0.676000	0.76740	0.968000	0.34134	1.000000	0.68203	0.879000	0.42020	0.5013:0.0:0.4987:0.0	5.310	0.15133	404	0.82510	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3354.11	34	chr14	64738782	.	G	C	3354.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.410e-01;DP=944;ExcessHet=0.1072;FS=1.433;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=0.409;SOR=0.788	GT:AD:DP:GQ:PL	0/1:68,70:138:99:1796,0,1762	19	0	2	0
chr14	64743168	64743168	C	T	exonic	PLEKHG3	.	nonsynonymous SNV	PLEKHG3:NM_001308147:exon17:c.C3125T:p.T1042I,	.	.	414	1107	1	0	0	1	0.000451467	.	.	2288015	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.992	D	0.813	P	0.046	N	1.000	N	1.78	L	1.4	T	-0.756	T	0.294	T	0.259	3.340	17.24	3.74	1.390	1.511	10.217	0.075	0.048282022238	.	.	.	.	.	.	.	.	.	.	.	.	.	rs954413659	4.113e-06	4.104e-06	2.729e-06	5.512e-06	0.0005	1.48e-06	9.7e-07	0.0001	7.544e-05	0	0	0	0	0	0.0005	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.16628	T	0.047	0.49120	D	0.967	0.64738	D	0.718	0.58748	P	0.045686	0.23511	N	0.409737	1	0.08975	N	2.28	0.64929	M	1.4	0.33842	T	-2.8	0.59226	D	0.362	0.40364	-0.7563	0.57604	T	0.294	0.66583	T	10	0.15328339	0.28937	T	0.048282	0.63305	D	0.075	0.21907	0.117	0.02508	0.730047997859	0.72764	0.2359513208253598	0.23510	0.538764309672	0.51126	0.491542577744	0.37652	T	0.13542	0.46722	T	-0.126714	0.32031	T	-0.356147	0.38498	T	0.845130980014801	0.49751	D	0.609039	0.23055	T	0.10370964	0.24515	0.12074798	0.29137	0.10370964	0.24514	0.12074798	0.29136	-6.581	0.54034	T	.	.	0.289	0.53982	B	.;.;.;.	.;.;.;.	2.249592	0.28733	17.89	0.99764162440804527	0.85335	0.10560	0.16033	N	AEFDGBI	0.110363	0.21888	N	-0.0359489720229203	0.40234	2.385793	-0.165236753994032	0.32826	1.871436	0.999618129438821	0.40981	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.66	3.74	0.42108	0.934000	0.28510	1.767000	0.28601	0.599000	0.40250	0.001000	0.13787	0.006000	0.19429	0.689000	0.33808	0.0:0.7874:0.1367:0.0759	10.217	0.42350	406	0.82375	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3066.98	35	chr14	64743168	.	C	T	3066.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.290e-01;DP=1072;ExcessHet=0.0000;FS=2.442;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.75;ReadPosRankSum=1.01;SOR=0.557	GT:AD:DP:GQ:PL	0/1:81,127:208:99:3081,0,1753	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	1/1:0,9,0:9:27:406,27,0,406,27,406	0	19	0	0
chr14	73522936	73522936	A	G	exonic	HEATR4	.	nonsynonymous SNV	HEATR4:NM_203309:exon2:c.T217C:p.F73L	.	.	428	1091	3	0	0	3	0.001373	.	.	2461586	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.999	D	0.991	D	0.000	D	0.815	D	1.1	L	2.51	T	-1.012	T	0.066	T	0.621	3.465	17.74	5.6	2.131	5.101	12.181	0.207	0.0207743490663	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1244370547	2.736e-06	2.736e-06	2.722e-06	2.75e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.541e-05	0	0	0	0	0	0.0005	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	0.000010	0.62929	D	0.000000	0.814597	0.34688	D	2.135	0.59519	M	2.51	0.14284	T	-2.25	0.89534	N	0.858	0.85766	-1.0120	0.26291	T	0.066	0.27191	T	10	0.38394624	0.54400	T	0.020774	0.43429	T	0.207	0.49555	0.513	0.61153	0.186928172975	0.18263	0.7018575583135143	0.70126	0.590872984111	0.54534	0.581369519234	0.50278	T	0.127196	0.45406	T	-0.0536535	0.43892	T	-0.314846	0.43137	T	0.950954258441925	0.63451	D	0.725927	0.34027	T	0.46950203	0.65259	0.5279746	0.72728	0.46950203	0.65260	0.5279746	0.72728	-2.53	0.05990	T	.	.	0.962	0.90572	P	.;.;.	.;.;.	4.379887	0.67501	25.1	0.99838985054861062	0.91972	0.88054	0.47817	D	AEFHCI	0.541410	0.55757	D	0.429028360373318	0.63023	4.528469	0.393745157120833	0.61177	4.314392	0.999877796199584	0.44625	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.6	5.6	0.84997	4.691000	0.61424	11.269000	0.91340	0.756000	0.94297	0.997000	0.40164	1.000000	0.68203	0.416000	0.27139	1.0:0.0:0.0:0.0	12.181	0.53522	271	0.89373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2494.98	41	chr14	73522936	.	A	G	2494.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.457e+00;DP=1030;ExcessHet=0.0000;FS=1.873;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.42;ReadPosRankSum=-6.350e-01;SOR=0.564	GT:AD:DP:GQ:PL	0/1:78,95:173:99:2509,0,2051	20	0	1	0
chr14	73619577	73619577	C	G	exonic	ACOT6	.	nonsynonymous SNV	ACOT6:NM_001037162:exon2:c.C362G:p.A121G	.	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.99	D	0.000	D	1.000	D	2.69	M	1.13	T	-0.410	T	0.316	T	0.513	4.231	22.0	5.8	2.739	4.353	20.050	0.428	0.0410599085255	0.0002	.	5.769e-05	0	0	0	0	8.995e-05	0	6.056e-05	5.17e-05	8	154602	rs145374175	5.609e-05	5.609e-05	5.309e-05	5.913e-05	0.0009	4.61e-05	4.236e-05	0.0003	0.0002	0	0.0001	0	0	1.872e-05	0.0009	3.957e-05	4.967e-05	0.0003	3.285e-05	3.283e-05	5.138e-05	1.345e-05	0.0002	1.261e-05	7.98e-06	1.171e-05	6.25e-06	0	0	6.548e-05	0	0	0	0	4.41e-05	0	0.0002	0.002	0.72154	D	0.007	0.74150	D	0.999	0.77913	D	0.99	0.78936	D	0.000009	0.62929	D	0.109686	0.999998	0.58761	D	3.325	0.90780	M	1.13	0.38556	T	-3.87	0.72594	D	0.446	0.48411	-0.4103	0.71701	T	0.316	0.68602	T	10	0.6395057	0.68975	D	0.04106	0.59718	D	0.428	0.73517	.	.	0.242244723065	0.23846	0.5183418060540937	0.51757	0.894400696875	0.70370	0.52785551548	0.42733	T	0.081243	0.36552	T	-0.217267	0.18368	T	-0.280566	0.46746	T	0.913757860660553	0.57014	D	0.949705	0.81505	D	0.5938068	0.72357	0.60824597	0.77219	0.5938068	0.72358	0.60824597	0.77220	.	.	.	.	.	0.182	0.39477	B	.;.;.	.;.;.	4.067136	0.60402	24.2	0.99792226322054978	0.87750	0.97914	0.78085	D	AEFBI	0.750966	0.69192	D	0.796399440117333	0.85879	8.710257	0.756987545388632	0.86677	8.966867	0.999221385463852	0.38808	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.8	5.8	0.92081	3.026000	0.49373	4.859000	0.45451	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.540000	0.29938	0.0:1.0:0.0:0.0	20.050	0.97625	274	0.89249	BAAT/Acyl-CoA thioester hydrolase C-terminal;BAAT/Acyl-CoA thioester hydrolase C-terminal;BAAT/Acyl-CoA thioester hydrolase 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	1566.98	34	chr14	73619577	.	C	G	1566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.407e+00;DP=841;ExcessHet=0.0000;FS=0.686;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=0.351;SOR=0.790	GT:AD:DP:GQ:PL	0/1:63,55:118:99:1581,0,1797	20	0	1	0
chr14	74358253	74358253	C	A	exonic	VRTN	.	nonsynonymous SNV	VRTN:NM_018228:exon2:c.C1470A:p.D490E,	.	.	419	1038	61	4	0	69	0.0321678	.	.	714232	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.156	N	1.000	N	0	N	1.02	T	-0.997	T	0.020	T	0.006	-3.049	0.001	-6.98	-1.897	-2.987	3.018	0.031	.	0.0028	0.00579073	0.0075	0.0009	0.0057	0.0001	0.0005	0.0060	0.0172	0.0245	0.0063324	979	154602	rs45500395	0.0053	0.0053	0.0045	0.0061	0.0380	0.0052	0.0052	0.0339	0.0323	0.0017	0.0054	0.0246	7.57e-05	0.0005	0.0380	0.0036	0.0069	0.0248	0.0044	0.0044	0.0040	0.0047	0.0251	0.0041	0.0040	0.0214	0.0201	0.0009	0	0.0056	0.0239	0.0002	0.0003	0.0272	0.0045	0.0095	0.0251	0.913	0.02349	T	0.46	0.12597	T	0.0	0.02946	B	0.0	0.01387	B	0.155817	0.17819	N	0.521574	1	0.08975	N	0.55	0.14455	N	1.02	0.40749	T	0.37	0.03639	N	0.017	0.00226	-0.9971	0.30728	T	0.020	0.08500	T	10	0.002757728	0.00043	T	.	.	.	0.031	0.07369	0.093	0.01151	0.043077524339	0.03247	0.20745129742837223	0.20661	0.40891498354	0.41719	0.289120614529	0.08794	T	0.010456	0.09443	T	-0.727529	0.00025	T	-0.798897	0.01930	T	0.00100007721668825	0.00010	T	0.194281	0.02108	T	0.08663903	0.20147	0.026262786	0.00706	0.08663903	0.20146	0.026262786	0.00706	-2.211	0.04094	T	.	.	0.093	0.13876	B	.	.	-2.672347	0.00021	0.001	0.21223961864604715	0.00799	0.04030	0.09467	N	AEFDBCI	0.036499	0.04872	N	-2.07478394950839	0.00145	0.00622438	-2.132926700732	0.00158	0.006943154	0.999999953199564	0.74766	0.722319	0.85440	0	0.59043	0.45803	0	0.698795	0.65105	0	0.542086	0.14980	0	.	.	3.89	-6.98	0.01454	-3.080000	0.00676	-4.396000	0.02178	-0.979000	0.01905	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2059:0.4317:0.1323:0.2301	3.018	0.05698	269	0.89438	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	4734.68	78	chr14	74358253	.	C	A	4734.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.82;DP=974;ExcessHet=0.3300;FS=4.375;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=14.57;ReadPosRankSum=0.449;SOR=0.941	GT:AD:DP:GQ:PL	0/1:55,55:110:99:1615,0,1474	18	0	3	0
chr14	74799567	74799569	CAT	-	exonic	YLPM1	.	nonframeshift deletion	YLPM1:NM_019589:exon5:c.4270_4272del:p.H1425del,	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406697557	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3358.94	39	chr14	74799566	.	ACAT	A	3358.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.139e+00;DP=898;ExcessHet=0.0000;FS=2.691;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.53;ReadPosRankSum=1.84;SOR=0.944	GT:AD:DP:GQ:PL	0/1:85,87:172:99:3373,0,3287	20	0	1	0
chr14	77027445	77027445	C	0	exonic	IRF2BPL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6562	12393.38	37	chr14	77027445	.	C	T,*	12393.38	.	AC=20,1;AF=0.625,0.031;AN=32;BaseQRankSum=0.947;DP=915;ExcessHet=1.6165;FS=2.187;InbreedingCoeff=-0.1019;MLEAC=23,1;MLEAF=0.719,0.031;MQ=59.99;MQRankSum=0.00;QD=28.23;ReadPosRankSum=-4.090e-01;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,12,0:35:99:0|1:77027445_C_T:426,0,881,496,917,1413:77027445	1	6	8	5
chr14	77027448	77027451	CTGT	0	exonic	IRF2BPL	.	.	.	.	.	513	390	392	223	4	842	0.517923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12349.48	37	chr14	77027448	.	CTGT	C,*	12349.48	.	AC=20,1;AF=0.476,0.024;AN=42;BaseQRankSum=1.24;DP=882;ExcessHet=0.5132;FS=2.187;InbreedingCoeff=0.1429;MLEAC=20,1;MLEAF=0.476,0.024;MQ=59.99;MQRankSum=0.00;QD=28.00;ReadPosRankSum=-4.090e-01;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,12,0:35:99:0|1:77027445_C_T:426,0,881,496,917,1413:77027445	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	0/1:107,52:164:99:144,0,1564	5	0	16	0
chr14	81144351	81144351	T	G	exonic	TSHR	.	stoploss	TSHR:NM_000369:exon10:c.T2293G:p.X765E,	Hyperthyroidism, familial gestational;Hyperthyroidism, nonautoimmune, Autosomal dominant, Isolated cases;Hypothyroidism, congenital, nongoitrous, 1, Autosomal recessive;Thyroid adenoma, hyperfunctioning, somatic (3);Thyroid carcinoma with thyrotoxicosis (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	-0.327	2.448	5.1	2.052	5.413	13.429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.191	0.20925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.171681	0.24980	T	-0.484384	0.23981	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.494207	0.19214	14.15	0.83895426999960143	0.14980	0.98973	0.89386	D	AEFI	.	.	.	0.894178256369643	0.91473	10.90075	0.687759356750095	0.81450	7.52921	0.999995985158224	0.74766	0.074636	0.01641	0	0.084543	0.02171	0	0.060301	0.00762	0	0.057018	0.00518	0	0.917415	0.58164	5.1	5.1	0.68917	5.193000	0.64958	7.937000	0.75328	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.256000	0.23417	0.0:0.0:0.0:1.0	13.429	0.60491	798	0.45050	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02778	73.09	40	chr14	81144351	.	T	G	73.09	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-4.075e+00;DP=1286;ExcessHet=0.0000;FS=92.196;InbreedingCoeff=-0.0634;MLEAC=1;MLEAF=0.028;MQ=60.00;MQRankSum=0.00;QD=0.79;ReadPosRankSum=1.72;SOR=7.232	GT:AD:DP:GQ:PL	0/1:68,24:92:86:86,0,1302	17	0	1	3
chr14	87947880	87947880	T	G	splicing	GALC	NM_000153:exon13:c.1339-2A>C;NM_001201402:exon13:c.1261-2A>C;NM_001201401:exon12:c.1270-2A>C	.	.	Krabbe disease, Autosomal recessive	YES	.	.	.	.	.	.	.	1.0000	0.804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.317	10.32	3.66	2.343	1.628	8.987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.048355	0.96078	35	0.96312423662121505	0.29387	0.90279	0.51329	D	AEFBI	.	.	.	0.834703617961455	0.88221	9.49745	0.637691033602847	0.77695	6.729492	0.662390159466227	0.22285	0.088506	0.02282	0	0.096993	0.02736	0	0.060301	0.00762	0	0.057018	0.00518	0	0.774629	0.45842	6.11	3.66	0.41111	2.105000	0.41449	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.337000	0.25363	0.1223:0.0:0.127:0.7507	8.987	0.35161	920	0.19381	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	935.62	37	chr14	87947880	.	T	G	935.62	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-1.210e+00;DP=599;ExcessHet=6.5132;FS=356.125;InbreedingCoeff=-0.3595;MLEAC=11;MLEAF=0.289;MQ=60.00;MQRankSum=0.00;QD=2.47;ReadPosRankSum=1.35;SOR=9.869	GT:AD:DP:GQ:PL	0/1:37,17:54:77:77,0,710	9	0	10	2
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	1/1:0,59,0,0,0,0,0:59:99:.:.:2476,174,0,2480,177,2484,2480,177,2484,2484,2480,177,2484,2484,2484,2480,177,2484,2484,2484,2484,2480,177,2484,2484,2484,2484,2484	1	5	3	0
chr14	94100772	94100772	G	A	splicing	IFI27L1	NM_145249:exon3:c.61+1G>A;NM_206949:exon3:c.61+1G>A	.	.	.	.	415	1075	30	2	0	34	0.0155678	1.0000	0.934	2402208	Susceptibility_to_severe_COVID-19	.	no_assertion_criteria_provided	Likely_risk_allele	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.170	13.21	2.98	2.032	0.606	9.821	.	.	0.0002	0.00199681	0.0015	9.804e-05	0.0004	0	0	0.0010	0.0044	0.0066	0.0013519	209	154602	rs144379529	0.0010	0.0010	0.0008	0.0013	0.0136	0.0010	0.0010	0.0112	0.0103	8.963e-05	0.0006	0.0031	2.519e-05	1.882e-05	0.0136	0.0006	0.0016	0.0069	0.0009	0.0009	0.0006	0.0011	0.0062	0.0007	0.0007	0.0045	0.0039	7.228e-05	0	0.0021	0.0032	0.0002	0	0.0102	0.0007	0.0009	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.221173	0.17834	T	-0.0861905	0.64448	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.107629	0.41902	21.4	0.98652801330732154	0.44220	0.48862	0.28303	N	AEFGBI	.	.	.	0.660259185449755	0.77032	6.597697	0.388974521407639	0.60886	4.281241	0.999999705434156	0.74766	0.294411	0.05044	0	0.332522	0.05826	0	0.175069	0.04249	0	0.092715	0.02821	0	0.92792	0.58901	2.98	2.98	0.33575	1.002000	0.29397	2.846000	0.35110	0.570000	0.28895	1.000000	0.71638	1.000000	0.68203	0.066000	0.16387	0.0:0.0:1.0:0.0	9.821	0.40051	365	0.84644	.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2080.11	34	chr14	94100772	.	G	A	2080.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.69;DP=947;ExcessHet=0.1072;FS=3.288;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=0.578;SOR=0.485	GT:AD:DP:GQ:PL	0/1:64,53:117:99:1322,0,1623	19	0	2	0
chr14	94487349	94487349	G	A	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon5:c.C1199T:p.P400L	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.055	B	0.012	B	0.089	N	1.000	N	0.345	N	-2.25	D	-0.586	T	0.467	T	0.146	1.708	11.67	-0.94	-0.039	0.217	16.151	0.207	0.034896432376	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1311631490	4.104e-06	4.104e-06	2.723e-06	5.5e-06	0.0002	1.48e-06	9.7e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.698e-06	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.14743	T	0.3	0.20357	T	0.055	0.22733	B	0.012	0.16012	B	0.089128	0.02436	N	1.998360	1	0.08975	N	1.7	0.43825	L	-2.25	0.87272	D	-2.89	0.60665	D	0.158	0.16447	-0.5855	0.65399	T	0.467	0.79433	T	10	0.16044515	0.30121	T	0.034896	0.55985	D	0.207	0.49555	0.494	0.58206	0.255270683199	0.25152	0.2183793018267305	0.21753	0.0374002625956	0.03967	0.274164706469	0.06691	T	0.109279	0.42301	T	-0.108207	0.35064	T	-0.377722	0.35988	T	0.0889691135931563	0.11094	T	0.424058	0.11326	T	0.13250512	0.30851	0.1642552	0.38060	0.13250512	0.30851	0.1642552	0.38059	-1.464	0.01692	T	.	.	0.183	0.45942	B	.;.	.;.	0.589558	0.09582	6.355	0.7608455441587807	0.11327	0.03487	0.08652	N	AEFBI	0.079916	0.16150	N	-0.997056403113981	0.08667	0.407214	-1.02036090442643	0.09337	0.4640003	0.999618414579977	0.40981	0.487112	0.14033	0	0.563428	0.19063	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.6	-0.94	0.09876	0.304000	0.18983	1.846000	0.29223	0.676000	0.76740	0.000000	0.06391	0.011000	0.20116	0.001000	0.02609	0.0:0.0:0.2009:0.7991	16.151	0.81437	824	0.40336	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	1	0	0	0	0.02381	2222.98	34	chr14	94487349	.	G	A	2222.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.992;DP=870;ExcessHet=0.0000;FS=2.687;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=0.626;SOR=0.927	GT:AD:DP:GQ:PL	0/1:86,85:171:99:2237,0,2231	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	0/1:79,76:155:99:.:.:853,0,1020	0	0	21	0
chr14	100587263	100587263	G	C	exonic	BEGAIN	.	nonsynonymous SNV	BEGAIN:NM_001385085:exon1:c.C28G:p.R10G	.	.	558	961	3	0	0	3	0.00155844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.969	T	0.171	T	0.399	2.550	14.49	0.831	0.060	0.180	6.002	0.045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.29	0.32387	N	.	.	-0.9694	0.37324	T	0.171	0.51229	T	4	0.12526	0.23801	T	.	.	.	0.045	0.12272	0.242	0.17524	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.0240579	0.48273	T	-0.272334	0.47583	T	0.719987763782171	0.41698	D	0.312569	0.06116	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.37671	B	.	.	3.971745	0.58326	24.0	0.99403843101357214	0.62934	0.00530	0.02456	N	AEFDBHCIJ	0.054861	0.10012	N	-0.435454299744414	0.24236	1.307211	-0.548687741009161	0.20841	1.124706	0.999991426002264	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	1.85	0.831	0.17995	1.348000	0.33592	4.081000	0.41738	0.455000	0.21489	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:0.6965:0.3035	6.002	0.18756	884	0.28482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	95.4	2	chr14	100587263	.	G	C	95.4	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.030e-01;DP=245;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0465;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=0.00;SOR=0.582	GT:AD:DP:GQ:PL	0/1:3,5:8:65:109,0,65	20	0	1	0
chr14	102084824	102084826	TCT	-	exonic	HSP90AA1	.	nonframeshift deletion	HSP90AA1:NM_005348:exon5:c.836_838del:p.K279del	.	.	0	223	3	0	0	3	0.00668151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	9.731e-05	0.0007	0.0001	0	7.636e-05	0	0.0002	0.0001423	22	154602	rs755646384	0.0018	0.0092	0.0019	0.0017	0.0030	0.0017	0.0017	0.0025	0.0023	0.0021	0.0029	0.0007	0.0006	0.0002	0.0030	0.0019	0.0015	0.0008	0.0008	0.0009	0.0009	0.0007	0.0014	0.0007	0.0006	0.0011	0.0010	0.0014	0	0.0013	0.0003	0.0010	0.0003	0.0102	0.0004	0.0014	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	12086.07	40	chr14	102084823	.	ATCT	A	12086.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.506;DP=1897;ExcessHet=0.1072;FS=1.123;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.79;MQRankSum=-7.964e+00;QD=19.09;ReadPosRankSum=0.013;SOR=0.802	GT:AD:DP:GQ:PL	0/1:177,178:355:99:6832,0,6867	19	0	2	0
chr14	103405082	103405082	T	G	exonic	MARK3	.	nonsynonymous SNV	MARK3:NM_001128918:exon2:c.T58G:p.S20A	.	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.321	B	0.209	B	0.000	D	1.000	D	1.735	L	-0.31	T	-0.598	T	0.299	T	0.287	2.889	15.63	5.23	1.968	5.071	15.118	0.102	0.0500215451545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.362e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.564	0.43085	T	0.12	0.36365	T	0.321	0.33029	B	0.209	0.37260	B	0.000036	0.55875	D	0.126462	1	0.81001	D	2.365	0.68172	M	-0.31	0.73311	T	-1.48	0.41239	N	0.564	0.60495	-0.5983	0.64887	T	0.299	0.67073	T	10	0.25259498	0.42616	T	0.050022	0.64065	D	0.102	0.29158	0.225	0.14960	0.819318611731	0.81761	0.32504801340020806	0.32417	0.283439501018	0.30787	0.78269547224	0.79335	T	0.397463	0.75582	T	-0.0102863	0.50225	T	-0.252552	0.49564	T	0.93624484539032	0.60509	D	0.737926	0.54290	T	0.168658	0.37337	0.18701324	0.41909	0.168658	0.37336	0.18701324	0.41908	-4.088	0.25467	T	.	.	0.078	0.14979	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.674124	0.52266	23.2	0.99126309048269567	0.53142	0.97512	0.75231	D	AEFDBHCIJ	0.613243	0.60101	D	0.0382674570738904	0.43605	2.650072	0.186480196588407	0.49107	3.117824	0.999999997251129	0.74766	0.780599	0.99702	0	0.724815	0.89359	0	0.709663	0.75317	0	0.600164	0.37192	1	.	.	5.23	5.23	0.72570	6.187000	0.71962	7.695000	0.65987	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	15.118	0.72094	612	0.66786	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3180.98	38	chr14	103405082	.	T	G	3180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=948;ExcessHet=0.0000;FS=0.997;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=0.041;SOR=0.781	GT:AD:DP:GQ:PL	0/1:129,120:249:99:3195,0,3418	20	0	1	0
chr14	104707532	104707537	CCCCAC	-	exonic	INF2	.	nonframeshift deletion	INF2:NM_001031714:exon8:c.1265_1270del:p.P427_P428del	Charcot-Marie-Tooth disease, dominant intermediate E, Autosomal dominant;Glomerulosclerosis, focal segmental, 5	.	83	1105	145	104	85	438	0.137729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	15742.8	47	chr14	104707525	.	ACCCCACCCCCAC	A,ACCCCAC	15742.8	.	AC=10,4;AF=0.238,0.095;AN=42;BaseQRankSum=0.324;DP=1468;ExcessHet=0.0509;FS=2.176;InbreedingCoeff=0.3577;MLEAC=10,4;MLEAF=0.238,0.095;MQ=60.00;MQRankSum=0.00;QD=30.55;ReadPosRankSum=1.57;SOR=0.392	GT:AD:DP:GQ:PL	1/1:0,82,0:82:99:3687,253,0,3687,253,3687	11	3	4	0
chr14	104941264	104941264	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A13887G:p.I4629M	.	.	428	1066	28	0	0	28	0.012963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.145	B	0.033	B	.	.	1.000	N	0	N	3.36	T	-0.962	T	0.007	T	0.059	1.131	9.610	-4.31	-2.062	-2.286	0.253	0.070	.	0.0005	0.00259585	0.0027	0.0001	0.0010	0	0	0.0004	0.0089	0.0166	0.0022121	342	154602	rs182857858	0.0014	0.0014	0.0009	0.0020	0.0167	0.0014	0.0014	0.0160	0.0157	0.0001	0.0004	3.826e-05	0	0	0.0075	0.0004	0.0013	0.0167	0.0008	0.0008	0.0007	0.0010	0.0149	0.0007	0.0007	0.0121	0.0111	0.0002	0	0.0008	0.0003	0	0	0	0.0005	0.0005	0.0149	0.132	0.26519	T	0.02	0.58613	D	0.145	0.27759	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.36	0.05918	T	-1.08	0.28084	N	0.107	0.09207	-0.9623	0.38742	T	0.007	0.02478	T	9	0.0034912825	0.00062	T	.	.	.	0.070	0.20419	.	.	0.0138822411134	0.00435	0.015849689489337817	0.01540	.	.	0.252390891314	0.04023	T	0.024125	0.18290	T	-0.726243	0.00025	T	-0.802348	0.01844	T	0.00760406410384063	0.00088	T	0.222078	0.02867	T	0.079244554	0.18093	0.053880945	0.09161	0.079244554	0.18093	0.053880945	0.09161	-3.301	0.13750	T	.	.	0.080	0.07985	B	.	.	-0.033768	0.04055	0.940	0.95836662611001833	0.27952	0.00239	0.01331	N	AEFGBI	.	.	.	-1.4926381712014	0.01901	0.08343875	-1.62574634165268	0.01506	0.06819093	0.999216844484621	0.38775	0.67177	0.52595	0	0.588066	0.40923	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	2.15	-4.31	0.03443	-3.192000	0.00623	-1.085000	0.06377	0.502000	0.22824	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3665:0.1482:0.211:0.2743	0.253	0.00193	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3097.98	99	chr14	104941264	.	T	C	3097.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.70;DP=2541;ExcessHet=0.0000;FS=5.337;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-1.123e+00;SOR=0.758	GT:AD:DP:GQ:PL	0/1:123,109:232:99:3112,0,3203	20	0	1	0
chr14	104946204	104946204	C	0	exonic	AHNAK2	.	.	.	.	.	438	157	442	479	6	1406	0.816803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	106384.42	204	chr14	104946204	.	C	T,*	106384.42	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-9.490e-01;DP=5401;ExcessHet=6.1794;FS=4.082;InbreedingCoeff=-0.2857;MLEAC=27,1;MLEAF=0.643,0.024;MQ=52.30;MQRankSum=-1.434e+01;QD=21.17;ReadPosRankSum=-1.256e+00;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:239,115,0:354:99:0|1:104946204_C_T:4092,0,9649,4812,9995,14806:104946204	1	7	12	0
chr14	104946840	104946840	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8311A:p.E2771K	.	.	425	1031	66	0	0	66	0.031015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.003	B	0.005	B	.	.	1.000	N	1.61	L	5.72	T	-0.908	T	0.003	T	0.055	0.664	7.558	1.0	0.031	0.201	7.453	0.053	0.00516765144614	.	.	0.0001	0.0011	0	0.0001	0	1.501e-05	0	0.0001	3.84e-05	1	26028	rs765833389	5.301e-05	0.0026	3.01e-05	7.62e-05	0.0005	4.305e-05	3.978e-05	0.0003	0.0003	0.0003	2.248e-05	0	0.0005	0	0.0005	1.804e-05	0.0003	7.087e-05	0.0003	0.0066	0.0003	0.0003	0.0012	0.0002	0.0002	0.0009	0.0008	0.0012	0	0	0	0	0	0	1.491e-05	0	0.0002	0.35	0.12305	T	0.304	0.20100	T	0.003	0.11197	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.395	0.35261	L	5.72	0.00726	T	-1.82	0.42763	N	0.042	0.01498	-0.9083	0.47061	T	0.003	0.00897	T	9	0.02272144	0.00575	T	0.005168	0.13156	T	0.053	0.14996	.	.	0.0138822411134	0.00435	0.01070317848971027	0.01031	.	.	0.231759011745	0.02101	T	0.021887	0.16970	T	-0.38292	0.02986	T	-0.787815	0.02225	T	0.0484263979648418	0.05219	T	0.553645	0.19140	T	0.027281942	0.01897	0.058093388	0.10674	0.027281942	0.01897	0.058093388	0.10674	-8.163	0.62175	D	.	.	0.151	0.33365	B	.	.	0.952869	0.13291	9.792	0.63652803078570641	0.07281	0.04330	0.09889	N	AEFBI	.	.	.	-1.56462695524314	0.01451	0.06330527	-1.61025239373678	0.01594	0.07229178	1.11558074033666E-4	0.05269	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.86	1.0	0.18999	-0.219000	0.09233	-2.557000	0.03611	-2.359000	0.00306	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7292:0.0:0.2708	7.453	0.26421	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	0.07143	621.68	200	chr14	104946840	.	C	T	621.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.271;DP=5344;ExcessHet=0.3300;FS=9.545;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=57.91;MQRankSum=-8.933e+00;QD=0.51;ReadPosRankSum=-3.710e+00;SOR=1.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:372,35:407:99:0|1:104946840_C_T:312,0,15407:104946840	18	0	3	0
chr14	104946844	104946844	T	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A8307C:p.Q2769H	.	.	426	1042	54	0	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.222	B	0.126	B	.	.	1.000	N	-0.69	N	5.72	T	-0.921	T	0.001	T	0.092	0.937	8.821	-2.7	-0.340	-1.247	7.447	0.008	0.00456934809247	.	0.00199681	0.0013	0.0014	8.639e-05	0.0001	0.0036	0.0017	0	0.0001	0.0001035	16	154602	rs549959692	0.0010	0.0031	0.0010	0.0009	0.0010	0.0009	0.0009	0.0009	0.0009	0.0003	6.734e-05	0.0007	0.0003	0.0049	0.0002	0.0010	0.0009	0.0001	0.0009	0.0062	0.0008	0.0010	0.0009	0.0008	0.0007	0.0008	0.0007	0.0007	0	0.0001	0.0012	0	0.0031	0	0.0009	0.0005	0	0.199	0.20456	T	0.044	0.49663	D	0.222	0.30359	B	0.126	0.32692	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	5.72	0.00726	T	-1.02	0.26843	N	0.054	0.02559	-0.9209	0.45431	T	0.001	0.00467	T	9	0.009157479	0.00207	T	0.004569	0.11283	T	0.008	0.00669	0.25	0.18757	0.0138822411134	0.00435	0.006695173993302265	0.00637	.	.	0.236160099506	0.02455	T	0.021859	0.16951	T	-0.663042	0.00060	T	-0.765724	0.02911	T	0.0259420974383474	0.01398	T	0.327667	0.06803	T	0.02251858	0.00921	0.035413582	0.02789	0.02251858	0.00921	0.035413582	0.02789	-4.563	0.31703	T	.	.	0.164	0.36234	B	.	.	-0.466991	0.01975	0.172	0.80392660186174825	0.13181	0.00383	0.01935	N	AEFBI	.	.	.	-1.48234254240428	0.01974	0.08670879	-1.54650334495513	0.02000	0.09137707	2.74653825623093E-4	0.06300	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.86	-2.7	0.05651	-1.316000	0.02818	-20.000000	0.00162	-4.377000	0.00031	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5322:0.2016:0.2662	7.447	0.26386	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	422.11	200	chr14	104946844	.	T	G	422.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.300e-01;DP=5331;ExcessHet=0.1072;FS=7.642;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.27;MQRankSum=-8.789e+00;QD=0.53;ReadPosRankSum=-3.637e+00;SOR=1.399	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:383,33:416:99:0|1:104946840_C_T:225,0,15934:104946840	19	0	2	0
chr14	104946846	104946846	G	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C8305G:p.Q2769E	.	.	423	1048	51	0	0	51	0.0237541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.0	B	0.0	B	.	.	1.000	N	-1.79	N	5.84	T	-0.953	T	0.001	T	0.094	-0.115	3.436	-0.215	-0.313	-1.604	6.202	0.013	0.00601287222755	.	.	0.0013	0.0014	8.639e-05	0.0001	0.0036	0.0017	0	0.0001	2.59e-05	4	154602	rs765081436	0.0010	0.0027	0.0010	0.0009	0.0010	0.0009	0.0009	0.0009	0.0009	0.0002	6.728e-05	0.0007	0.0002	0.0049	0.0002	0.0010	0.0007	9.387e-05	0.0009	0.0051	0.0008	0.0009	0.0009	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0001	0.0012	0	0.0030	0	0.0009	0.0005	0	0.83	0.02884	T	0.617	0.07518	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.115	0.04602	N	5.84	0.00647	T	0.89	0.01641	N	0.02	0.00308	-0.9529	0.40468	T	0.001	0.00255	T	9	0.009065419	0.00205	T	0.006013	0.15698	T	0.013	0.01715	.	.	0.0138822411134	0.00435	0.0016092417742788088	0.00148	.	.	0.228061407804	0.01827	T	0.016132	0.13395	T	-0.648084	0.00074	T	-0.744237	0.03715	T	0.00364170349492424	0.00039	T	0.339966	0.07337	T	0.02530059	0.01453	0.03273809	0.02056	0.02530059	0.01453	0.03273809	0.02056	-2.714	0.07421	T	.	.	0.060	0.01011	B	.	.	-0.105849	0.03606	0.709	0.30481252660818753	0.01669	0.00077	0.00530	N	AEFBI	.	.	.	-1.80290082682248	0.00538	0.02316779	-1.74440261055854	0.00955	0.04273961	1.08048917805001E-4	0.05123	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.86	-0.215	0.12510	0.146000	0.16000	-10.489000	0.00696	-0.266000	0.06809	0.237000	0.24716	0.000000	0.08366	0.000000	0.00833	0.0:0.5285:0.3634:0.1081	6.202	0.19793	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	369.11	200	chr14	104946846	.	G	C	369.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.181e+00;DP=5308;ExcessHet=0.1072;FS=9.601;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.35;MQRankSum=-8.540e+00;QD=0.46;ReadPosRankSum=-2.703e+00;SOR=1.451	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:378,32:410:99:0|1:104946840_C_T:206,0,15776:104946840	19	0	2	0
chr14	104946849	104946849	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8302A:p.A2768T	.	.	422	1059	41	0	0	41	0.0189903	.	.	3409374	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.72	T	0.028	B	0.006	B	.	.	1.000	N	2.85	M	5.55	T	-0.856	T	0.004	T	0.119	1.122	9.573	-2.0	-0.878	-1.324	0.865	0.040	0.0032799704562	.	.	0.0002	0.0010	8.639e-05	0.0005	0	9.003e-05	0.0011	0.0003	0.000207	32	154602	rs781609751	0.0001	0.0012	8.323e-05	0.0001	0.0047	8.739e-05	8.224e-05	0.0033	0.0029	9.104e-05	4.479e-05	7.66e-05	0.0002	0	0.0047	6.395e-05	0.0003	0.0002	0.0002	0.0037	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0	0.0001	0.0003	0.0004	0	0.0070	8.894e-05	0.0005	0.0002	0.048	0.40068	D	0.231	0.25061	T	0.028	0.19712	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	2.395	0.69210	M	5.55	0.00874	T	-0.82	0.22508	N	0.065	0.03726	-0.8556	0.51577	T	0.004	0.01400	T	9	0.026404798	0.00808	T	0.00328	0.07268	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.002754179350592718	0.00256	.	.	0.210492774844	0.00832	T	0.022204	0.17162	T	-0.324054	0.06571	T	-0.703257	0.05649	T	0.0342946946823724	0.02687	T	0.329367	0.06881	T	0.02186054	0.00812	0.049946822	0.07739	0.02186054	0.00811	0.049946822	0.07738	-7.621	0.58457	D	.	.	0.101	0.17445	B	.	.	0.282115	0.06588	3.080	0.90699426532362137	0.19950	0.01201	0.04282	N	AEFBI	.	.	.	-1.17912363358261	0.05316	0.2420568	-1.34729888941916	0.03838	0.1798289	1.51879746510354E-4	0.05650	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.86	-2.0	0.07024	-1.956000	0.01613	-14.507000	0.00400	-1.039000	0.01670	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3038:0.3553:0.1498:0.191	0.865	0.01125	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	53.14	200	chr14	104946849	.	C	T	53.14	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.99;DP=5324;ExcessHet=0.1072;FS=10.501;InbreedingCoeff=-0.0464;MLEAC=1;MLEAF=0.024;MQ=58.43;MQRankSum=-9.015e+00;QD=0.07;ReadPosRankSum=-2.639e+00;SOR=1.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:383,29:412:65:0|1:104946840_C_T:65,0,15995:104946840	19	0	2	0
chr14	105392681	105392681	C	T	exonic	PACS2	.	nonsynonymous SNV	PACS2:NM_001243127:exon22:c.C2048T:p.A683V	.	.	427	1079	15	1	0	17	0.00781609	.	.	1157188	not_provided|PACS2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.33	T	0.011	B	0.008	B	0.012	N	1.000	N	0.345	N	0.94	T	-1.054	T	0.050	T	0.093	0.527	6.852	1.67	0.799	0.669	6.193	0.043	0.0113838267332	.	0.000199681	0.0011	0.0003	0.0002	0	0	0.0001	0.0013	0.0070	0.0007827	121	154602	rs587631980	0.0004	0.0004	0.0003	0.0006	0.0058	0.0004	0.0004	0.0054	0.0052	2.988e-05	8.957e-05	0	0	0	0.0031	9.174e-05	0.0005	0.0058	0.0002	0.0002	7.71e-05	0.0004	0.0056	0.0002	0.0002	0.0039	0.0034	0	0	6.536e-05	0	0	0	0.0034	0.0001	0	0.0056	0.31	0.16251	T	0.575	0.13953	T	0.011	0.15914	B	0.003	0.13708	B	0.011582	0.29474	N	0.349478	0.999999	0.20970	N	-0.345	0.03330	N	0.94	0.43672	T	-1.58	0.38151	N	0.175	0.18784	-1.0545	0.13172	T	0.050	0.21417	T	10	0.004993379	0.00107	T	0.011384	0.28946	T	0.043	0.11576	.	.	0.082315109003	0.07666	0.11558417568226456	0.11486	.	.	0.376492708921	0.21758	T	0.092632	0.39045	T	-0.627114	0.00100	T	-0.671248	0.07528	T	0.0351481681706273	0.02834	T	0.288071	0.05188	T	0.028653009	0.02235	0.043809496	0.05536	0.028653009	0.02234	0.043809496	0.05536	-5.529	0.42361	T	0.13492756935295075	0.14620	0.068	0.03515	B	.;.;.;.	.;.;.;.	1.248524	0.16447	12.55	0.98758479898116158	0.45770	0.06551	0.12564	N	AEFBI	0.080184	0.16208	N	-0.9206171464811	0.10360	0.4947208	-0.899932978305083	0.12096	0.620213	0.999924828087517	0.46280	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.0	1.67	0.23149	0.912000	0.28220	1.394000	0.26140	-0.171000	0.11205	0.001000	0.13787	0.001000	0.17328	0.024000	0.12247	0.0:0.6322:0.0:0.3678	6.193	0.19750	970	0.06235	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1567.98	38	chr14	105392681	.	C	T	1567.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.199e+00;DP=795;ExcessHet=0.0000;FS=2.766;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.51;ReadPosRankSum=0.711;SOR=0.777	GT:AD:DP:GQ:PL	0/1:34,61:95:99:1582,0,791	20	0	1	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L,	.	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.001	N	1.000	P	-3.045	N	8.91	T	-0.972	T	0.000	T	0.111	-2.796	0	0.487	-0.314	-1.168	6.210	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.875	49876.32	41	chr15	22081297	.	T	C	49876.32	.	AC=35;AF=0.875;AN=40;BaseQRankSum=9.54;DP=2745;ExcessHet=0.0454;FS=83.218;InbreedingCoeff=0.3143;MLEAC=36;MLEAF=0.900;MQ=39.56;MQRankSum=-1.124e+01;QD=20.13;ReadPosRankSum=0.928;SOR=4.411	GT:AD:DP:GQ:PL	1/1:0,141:141:99:4508,424,0	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	1/2:3,86,105:194:99:.:.:6797,3431,4411,3548,0,3252	0	0	2	0
chr15	25862994	25862994	G	C	exonic	ATP10A	.	nonsynonymous SNV	ATP10A:NM_024490:exon1:c.C103G:p.P35A,	.	.	413	1070	38	1	0	40	0.0183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.002	B	0.002	B	0.801	N	1.000	N	2.22	M	3.0	T	-0.997	T	0.037	T	0.186	1.716	11.70	3.13	1.572	-0.667	10.385	0.099	.	.	0.00738818	0.0166	0.0042	0.015	0	0	0.0153	0	0.0355	0.0025226	390	154602	rs201984250	0.0102	0.0095	0.0099	0.0106	0.0265	0.0101	0.0100	0.0254	0.0250	0.0017	0.0037	0.0095	3.449e-05	0.0043	0.0099	0.0102	0.0090	0.0265	0.0077	0.0077	0.0076	0.0079	0.0301	0.0074	0.0072	0.0261	0.0246	0.0024	0.0143	0.0061	0.0069	0	0.0040	0.0069	0.0109	0.0052	0.0301	0.4	0.10482	T	0.306	0.26714	T	0.002	0.09854	B	0.002	0.06944	B	0.800728	0.06767	N	1.128570	0.999925	0.19486	N	0.55	0.14455	N	3.0	0.09167	T	-0.6	0.17834	N	0.222	0.24883	-0.9966	0.30865	T	0.037	0.16073	T	10	0.004319489	0.00087	T	.	.	.	0.099	0.28413	.	.	0.425592409813	0.42174	0.26603274096494134	0.26516	0.836547363532	0.67840	0.861666023731	0.91357	D	0.026818	0.19766	T	-0.601268	0.00143	T	-0.622177	0.11015	T	0.00638069958827155	0.00071	T	0.692631	0.30204	T	0.08781295	0.20463	0.11398819	0.27513	0.08781295	0.20463	0.11398819	0.27512	-3.461	0.18876	T	.	.	0.058	0.00670	B	.;.	.;.	2.590312	0.33598	19.39	0.96415717537927481	0.29740	0.72840	0.35640	D	AEFDBCI	0.122009	0.23696	N	-0.265191423867348	0.30502	1.701342	-0.209321729804864	0.31199	1.763522	0.999980345760994	0.51787	0.59774	0.34471	0	0.475579	0.06741	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.13	3.13	0.35090	3.120000	0.50123	3.893000	0.40305	0.566000	0.28629	0.748000	0.29111	1.000000	0.68203	0.981000	0.58702	0.0:0.221:0.779:0.0	10.385	0.43315	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3415.66	33	chr15	25862994	.	G	C	3415.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.207e+00;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=22.92;ReadPosRankSum=-2.150e+00;SOR=0.618	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1774,180,0	19	1	1	0
chr15	28845615	28845615	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon6:c.G376A:p.A126T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1301597558	1.611e-06	3.786e-05	3.479e-06	0	2.657e-06	0	0	.	.	0	0	0	0	0	0	2.657e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12060499	0.22846	T	.	.	.	.	.	.	.	.	.	0.007561482229320058	0.00722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.624238	0.24084	T	0.043898452	0.06924	0.10940231	0.26367	0.043898452	0.06924	0.10940231	0.26366	-5.348	0.40415	T	.	.	0.096	0.15564	B	.	.	0.792457	0.11628	8.216	0.374056583282042	0.02463	0.00086	0.00577	N	AEFI	.	.	.	.	.	.	.	.	.	1.82346962211321E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.058706	0.01089	0	0.0448725	0.03863	0.311	0.311	0.15077	-0.477000	0.06663	-5.022000	0.01882	0.307000	0.19059	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	1032.33	36	chr15	28845615	.	C	T	1032.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.446e+00;DP=754;ExcessHet=0.0000;FS=2.006;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=57.20;MQRankSum=-3.930e-01;QD=12.90;ReadPosRankSum=0.698;SOR=1.075	GT:AD:DP:GQ:PL	0/1:40,40:80:99:1046,0,1068	19	0	1	1
chr15	30905381	30905381	G	A	exonic	FAN1	.	nonsynonymous SNV	FAN1:NM_001146094:exon2:c.G718A:p.E240K	Interstitial nephritis, karyomegalic, Autosomal recessive	.	8	1504	9	1	0	11	0.00364359	.	.	725976	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.154	B	0.015	B	0.269	N	1.000	N	1.3	L	1.08	T	-0.998	T	0.108	T	0.169	1.510	11.00	4.15	1.515	2.973	13.326	0.042	0.0113563000297	0.0036	0.00119808	0.0035	0.0009	0.0019	0	0.0011	0.0052	0.0077	0.0022	0.0036157	559	154602	rs150748572	0.0053	0.0053	0.0055	0.0051	0.0062	0.0052	0.0052	0.0061	0.0060	0.0008	0.0023	0.0062	2.519e-05	0.0013	0.0024	0.0062	0.0053	0.0027	0.0035	0.0035	0.0039	0.0032	0.0058	0.0033	0.0032	0.0053	0.0051	0.0007	0	0.0042	0.0078	0	0.0008	0	0.0058	0.0028	0.0017	0.151	0.24564	T	0.043	0.49942	D	0.004	0.28120	B	0.004	0.17295	B	0.269329	0.03762	N	1.404000	1	0.08975	N	1.62	0.41497	L	1.08	0.39401	T	-1.17	0.29933	N	0.112	0.09914	-0.9979	0.30507	T	0.108	0.39075	T	10	0.0041305125	0.00081	T	0.011356	0.28906	T	0.042	0.11227	.	.	0.233785782151	0.22967	0.18437955416716598	0.18356	0.110578713255	0.12480	0.248333349824	0.03594	T	0.017505	0.14269	T	-0.521727	0.00430	T	-0.515662	0.20735	T	0.012061260324532	0.00191	T	0.723028	0.33655	T	0.07158659	0.15860	0.080639124	0.18256	0.07214172	0.16026	0.07963211	0.17945	-4.105	0.25364	T	.	.	0.072	0.08033	B	.;.;.;.	.;.;.;.	1.877588	0.23851	16.17	0.96421877544336299	0.29761	0.68497	0.33825	D	AEFGBI	0.120806	0.23516	N	-0.613830041422907	0.18528	0.9626492	-0.56622230409659	0.20376	1.097536	0.999987662801808	0.51787	0.706298	0.61202	0	0.662677	0.63036	0	0.709663	0.75317	0	0.669	0.65921	0	.	.	5.07	4.15	0.47978	3.001000	0.49176	3.385000	0.38029	-0.106000	0.15538	0.673000	0.28375	0.512000	0.25262	0.078000	0.17132	0.076:0.0:0.924:0.0	13.326	0.59898	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	0.02381	2039.98	40	chr15	30905381	.	G	A	2039.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.39;DP=1062;ExcessHet=0.0000;FS=1.415;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.81;ReadPosRankSum=0.606;SOR=0.878	GT:AD:DP:GQ:PL	0/1:58,71:129:99:2054,0,1408	20	0	1	0
chr15	31026219	31026219	C	G	exonic	TRPM1	.	nonsynonymous SNV	TRPM1:NM_001252020:exon26:c.G3600C:p.Q1200H	Night blindness, congenital stationary (complete), 1C, autosomal recessive	.	0	1514	8	0	0	8	0.00263505	.	.	178106	not_specified|not_provided|Congenital_stationary_night_blindness_1C	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013183,MedGen:C2750747,OMIM:613216,Orphanet:215	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.936	P	0.43	B	0.000	N	1.000	D	2.695	M	1.14	T	-0.959	T	0.106	T	0.285	3.895	19.80	-0.35	0.087	0.970	6.08	0.165	0.0190219443106	0.0032	0.00119808	0.0037	0.0009	0.0015	0	0.0014	0.0053	0.0078	0.0030	0.0037839	585	154602	rs182549235	0.0052	0.0052	0.0053	0.0050	0.0059	0.0051	0.0050	0.0058	0.0057	0.0007	0.0022	0.0063	2.519e-05	0.0014	0.0024	0.0059	0.0051	0.0034	0.0035	0.0035	0.0036	0.0033	0.0055	0.0032	0.0031	0.0050	0.0049	0.0008	0	0.0042	0.0078	0	0.0014	0	0.0055	0.0028	0.0017	0.037	0.43085	D	0.004	0.83351	D	0.79	0.44599	P	0.244	0.38795	B	0.000000	0.84330	N	0.050999	0.997099	0.43626	D	2.705	0.79137	M	1.14	0.38397	T	-3.09	0.66436	D	0.443	0.49328	-0.9590	0.39368	T	0.106	0.38783	T	10	0.0092971325	0.00210	T	0.019022	0.41266	T	0.165	0.42395	0.316	0.29258	0.391313282164	0.38746	0.5628400395471059	0.56211	0.242074247007	0.26724	0.489015996456	0.37302	T	0.32201	0.70552	T	-0.459677	0.00988	T	-0.429345	0.30008	T	0.0481781576438697	0.05176	T	0.976302	0.92930	D	0.33441207	0.55830	0.24030623	0.49401	0.3464819	0.56791	0.2775165	0.53704	-8.685	0.66531	D	0.3409272902053603	0.43866	0.269	0.56927	B	.;.;.;.;.;.	.;.;.;.;.;.	3.238427	0.44194	21.9	0.99591645449167321	0.73631	0.86131	0.45355	D	AEFBHCI	0.386541	0.46686	N	0.138661289423592	0.48275	3.041888	0.0843904864032135	0.43763	2.671415	0.999996467088225	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.5	-0.35	0.11979	0.725000	0.25638	0.598000	0.19894	0.549000	0.26987	1.000000	0.71638	0.998000	0.33993	0.995000	0.73285	0.0:0.4071:0.1381:0.4548	6.08	0.19160	819	0.41190	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1445.98	34	chr15	31026219	.	C	G	1445.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.646e+00;DP=811;ExcessHet=0.0000;FS=0.706;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=1.51;SOR=0.574	GT:AD:DP:GQ:PL	0/1:53,60:113:99:1460,0,1357	20	0	1	0
chr15	31229304	31229304	G	-	exonic	LOC283710	.	frameshift deletion	LOC283710:NM_001243538:exon2:c.75delC:p.R26Gfs*101,	.	.	454	9	11	367	681	1426	0.976409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	53256.77	60	chr15	31229302	.	CGG	C,CG	53256.77	.	AC=29,13;AF=0.690,0.310;AN=42;BaseQRankSum=1.54;DP=1738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=30,12;MLEAF=0.714,0.286;MQ=60.00;MQRankSum=0.00;QD=28.91;ReadPosRankSum=-3.970e-01;SOR=0.473	GT:AD:DP:GQ:PL	1/2:0,45,20:65:99:2183,514,383,1360,0,1189	0	10	0	0
chr15	32168303	32168303	G	A	exonic	CHRNA7	.	nonsynonymous SNV	CHRNA7:NM_000746:exon10:c.G1354A:p.E452K	Schizophrenia, neurophysiologic defect in	.	51	1428	43	0	0	43	0.0148327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.948	P	0.531	P	0.002	N	1.000	D	1.55	L	1.82	T	-1.121	T	0.070	T	0.591	4.169	21.6	3.99	2.511	7.224	14.406	0.159	0.00657931159067	.	.	0.0046	0	0	0	.	0.0081	.	0	0.0002305	6	26028	rs199504752	0.0045	0.0050	0.0044	0.0047	0.0153	0.0044	0.0044	0.0121	0.0109	0.0007	0.0049	0.0080	2.88e-05	0.0015	0.0153	0.0045	0.0053	0.0085	0.0034	0.0039	0.0036	0.0032	0.0076	0.0031	0.0030	0.0057	0.0053	0.0006	0.0077	0.0068	0.0047	0	0.0013	0.0179	0.0042	0.0088	0.0076	0.278	0.15613	T	0.264	0.23707	T	0.846	0.46778	P	0.531	0.48577	P	0.002256	0.36929	N	0.317619	0.999998	0.58761	D	1.82	0.47800	L	1.82	0.25018	T	-2.32	0.51968	N	0.429	0.53532	-1.1207	0.02288	T	0.070	0.28478	T	10	0.007461101	0.00170	T	0.006579	0.17358	T	0.159	0.41286	.	.	0.447901950027	0.44410	0.5973885767010677	0.59669	.	.	0.695635795593	0.66515	T	0.746071	0.93005	D	-0.0649489	0.42131	T	-0.331071	0.41350	T	0.0448825108585944	0.04581	T	0.953805	0.82399	D	0.21978775	0.44518	0.20101556	0.44061	0.21978775	0.44518	0.20101556	0.44060	-12.443	0.86942	D	.	.	0.117	0.37255	B	.;.;.;.;.	.;.;.;.;.	4.729647	0.76160	26.5	0.9986754952357213	0.94547	0.97502	0.75165	D	AEFGI	0.915276	0.87984	D	0.406373100601256	0.61773	4.382947	0.429274054156304	0.63395	4.572528	0.999550702800369	0.40362	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	3.99	3.99	0.45527	6.388000	0.73122	11.737000	0.95113	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:1.0:0.0	14.406	0.66656	964	0.07719	Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	246.11	26	chr15	32168303	.	G	A	246.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.83;DP=729;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0501;MLEAC=2;MLEAF=0.048;MQ=26.77;MQRankSum=0.761;QD=3.67;ReadPosRankSum=2.06;SOR=0.087	GT:AD:DP:GQ:PL	0/1:32,8:40:99:133,0,883	19	0	2	0
chr15	33066576	33066576	A	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.T1309C:p.S437P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.974	D	0.014	N	0.997	N	.	.	0.86	T	-0.312	T	0.279	T	0.74	2.736	15.11	5.96	2.285	2.823	11.519	0.118	0.0439174776103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.269e-06	0.0003	8.328e-06	4.195e-06	3.048e-05	2.95e-06	2.14e-06	3.16e-06	2.28e-06	3.048e-05	0	0	0	0	0	7.335e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.149	0.63918	T	0.999	0.90584	D	0.961	0.73157	D	0.013889	0.28700	N	0.367334	.	.	.	.	.	.	0.86	0.52416	T	-1.05	0.30140	N	0.667	0.67564	-0.3122	0.74643	T	0.279	0.65058	T	8	0.56316704	0.64902	D	0.043917	0.61227	D	0.118	0.32913	0.237	0.16760	0.692833615445	0.69019	.	.	0.0243119155432	0.02469	.	.	.	.	.	.	0.065645	0.60314	T	-0.143482	0.59815	T	0.97686767578125	0.71575	D	.	.	.	.	.	.	.	.	.	.	.	-11.775	0.83737	D	.	.	0.768	0.82694	P	.;.	.;.	1.889637	0.24000	16.23	0.99337903151617613	0.60051	0.70445	0.34593	D	AEFBCI	0.339556	0.43666	N	0.607978743589503	0.73679	6.005621	0.621611519535191	0.76513	6.504682	0.999997974355125	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	2.674000	0.46532	7.052000	0.57375	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.859000	0.40722	0.8664:0.0:0.0:0.1336	11.519	0.49792	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2973.31	80	chr15	33066576	.	A	G	2973.31	.	AC=8;AF=0.333;AN=24;BaseQRankSum=-3.410e-01;DP=1903;ExcessHet=3.5521;FS=152.585;InbreedingCoeff=-0.4238;MLEAC=11;MLEAF=0.458;MQ=60.00;MQRankSum=0.00;QD=3.75;ReadPosRankSum=0.714;SOR=10.260	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,35:144:99:0|1:33066574_C_T:733,0,3900:33066574	4	0	8	9
chr15	33066577	33066577	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1308C:p.E436D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.986	D	0.799	P	0.001	D	.	.	.	.	0.34	T	-0.655	T	0.195	T	0.183	2.701	14.99	3.06	0.846	0.241	5.341	0.121	0.0297600126912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.862e-07	0.0001	0	1.379e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.31834	T	0.298	0.32355	T	0.859	0.61523	P	0.569	0.58136	P	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.34	0.59717	T	-1.06	0.27669	N	0.523	0.55280	-0.6555	0.62473	T	0.195	0.54913	T	8	0.3596483	0.52628	T	0.02976	0.52206	D	0.121	0.33580	0.179	0.08626	0.723881056707	0.72144	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.156676	0.27274	T	-0.46283	0.26291	T	0.960661649703979	0.65867	D	.	.	.	.	.	.	.	.	.	.	.	-8.241	0.62700	D	.	.	0.231	0.54353	B	.;.	.;.	0.926501	0.13016	9.521	0.9948329941711106	0.67014	0.72494	0.35481	D	AEFBCI	0.313711	0.41879	N	0.240855582260182	0.53189	3.48888	0.245955025105221	0.52420	3.416909	0.999871332870031	0.44625	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	3.06	0.34374	0.207000	0.17194	0.009000	0.13411	0.599000	0.40250	0.983000	0.35670	0.800000	0.26941	0.903000	0.43903	0.1331:0.5968:0.0:0.2702	5.341	0.15286	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3066.26	80	chr15	33066577	.	C	G	3066.26	.	AC=9;AF=0.375;AN=24;BaseQRankSum=-6.420e-01;DP=1917;ExcessHet=4.7172;FS=160.684;InbreedingCoeff=-0.4737;MLEAC=12;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=3.55;ReadPosRankSum=0.903;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,35:143:99:0|1:33066574_C_T:736,0,3864:33066574	3	0	9	9
chr15	33756345	33756345	G	A	exonic	RYR3	.	nonsynonymous SNV	RYR3:NM_001036:exon59:c.G8555A:p.R2852H	.	.	1	1520	1	0	0	1	0.000328839	.	.	464895	Epileptic_encephalopathy|not_provided|RYR3-related_disorder	Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.000	N	0.968	N	-1.445	N	-3.96	D	-0.502	T	0.433	T	0.266	1.051	9.293	5.35	1.158	6.785	11.366	0.338	.	0.0034	0.00179712	0.0020	0.0169	0.0010	0.0012	0	0.0002	0.0031	0.0001	0.0006339	98	154602	rs150799181	0.0003	0.0003	0.0003	0.0002	0.0081	0.0002	0.0002	0.0073	0.0070	0.0081	0.0003	0	5.225e-05	0	0.0002	3.292e-05	0.0005	0.0002	0.0024	0.0024	0.0025	0.0023	0.0084	0.0022	0.0021	0.0077	0.0074	0.0084	0	0.0006	0	0	0	0	5.881e-05	0.0009	0.0002	1.0	0.00964	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	N	0.000000	0.967775	0.25832	N	-2.005	0.00192	N	-3.96	0.96208	D	5.78	0.00011	N	0.257	0.32701	-0.5024	0.68564	T	0.433	0.77439	T	10	0.0065937936	0.00149	T	.	.	.	0.338	0.66010	.	.	0.161926535498	0.15789	0.13862022442214192	0.13785	0.225144669381	0.25054	0.68936753273	0.65615	T	0.243154	0.61203	T	-0.264329	0.12398	T	-0.145644	0.59628	T	0.0229384889620184	0.01017	T	0.768323	0.39714	T	0.065379106	0.13967	0.1080648	0.26025	0.065379106	0.13967	0.1080648	0.26024	6.405	0.00001	T	.	.	0.057	0.00593	B	.;.;.;.;.	.;.;.;.;.	3.421726	0.47512	22.5	0.26238266882482486	0.01247	0.03461	0.08612	N	AEFBI	0.031260	0.03302	N	-0.660460417430439	0.17157	0.8804189	-0.340286461632499	0.26811	1.48339	0.996160233562345	0.34566	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.35	5.35	0.76297	7.163000	0.77095	7.018000	0.57256	-0.040000	0.17491	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.9286:0.0:0.0714:0.0	11.366	0.48913	916	0.20744	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	729.98	33	chr15	33756345	.	G	A	729.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.663;DP=759;ExcessHet=0.0000;FS=5.105;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-2.610e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/1:31,31:62:99:744,0,715	20	0	1	0
chr15	34038924	34038924	-	CCGCCGCCGCCT	exonic	AVEN	.	nonframeshift insertion	AVEN:NM_020371:exon1:c.122_123insAGGCGGCGGCGG:p.G45_D46insGGGG,	.	.	593	759	112	48	10	218	0.12051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	756.33	5	chr15	34038912	.	CCCGCCGCCGCCT	C,CCCGCCGCCGCCTCCGCCGCCGCCT	756.33	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=0.319;DP=163;ExcessHet=0.0454;FS=2.917;InbreedingCoeff=0.2461;MLEAC=4,1;MLEAF=0.100,0.025;MQ=60.00;MQRankSum=0.00;QD=21.61;ReadPosRankSum=-4.240e-01;SOR=1.230	GT:AD:DP:GQ:PL	0/2:1,0,6:7:24:243,246,289,0,42,24	16	1	2	1
chr15	40898965	40898965	G	A	exonic	VPS18	.	nonsynonymous SNV	VPS18:NM_020857:exon3:c.G292A:p.A98T,	.	.	433	1075	13	1	0	15	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.146	B	0.03	B	0.000	D	0.693	N	0.895	L	0.91	T	-1.025	T	0.036	T	0.105	-0.008	3.972	0.693	-0.025	1.497	4.158	0.033	0.00623164188503	0.0058	0.00299521	0.0050	0.0020	0.0023	0	0.0006	0.0065	0.0011	0.0072	0.0052069	805	154602	rs140142469	0.0078	0.0078	0.0079	0.0076	0.0090	0.0076	0.0076	0.0089	0.0088	0.0014	0.0029	0.0003	2.519e-05	0.0015	0.0040	0.0090	0.0063	0.0071	0.0051	0.0051	0.0056	0.0046	0.0089	0.0048	0.0047	0.0083	0.0081	0.0018	0.0022	0.0025	0.0009	0	0.0008	0.0102	0.0089	0.0066	0.0048	0.727	0.07307	T	0.587	0.24840	T	0.146	0.27821	B	0.03	0.21741	B	0.000183	0.48115	D	0.217136	0.693044	0.33346	D	1.59	0.40313	L	0.91	0.44856	T	-0.2	0.10136	N	0.291	0.32921	-1.0248	0.22148	T	0.036	0.15465	T	10	0.0044212937	0.00090	T	0.006232	0.16347	T	0.033	0.08068	.	.	0.147330786459	0.14319	0.1759031381791382	0.17509	0.392667314243	0.40446	0.281481206417	0.07699	T	0.026705	0.19707	T	-0.581531	0.00189	T	-0.598711	0.12919	T	0.00360183427683428	0.00038	T	0.792121	0.43364	T	0.05123868	0.09380	0.051792376	0.08407	0.05123868	0.09380	0.051792376	0.08407	-3.999	0.23789	T	.	.	0.084	0.16231	B	.;.	.;.	2.002629	0.25446	16.76	0.39248831212335833	0.02697	0.81514	0.40902	D	AEFGBI	0.111242	0.22031	N	-0.693229999047474	0.16213	0.8240575	-0.623125723557837	0.18899	1.01168	0.999913371930642	0.45857	0.67177	0.52595	0	0.606735	0.50208	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.77	0.693	0.17218	1.534000	0.35656	4.879000	0.45646	0.676000	0.76740	0.968000	0.34134	1.000000	0.68203	0.855000	0.40485	0.2246:0.0:0.4997:0.2757	4.158	0.09736	188	0.92666	.;.	.	.	.	.	rs140142469	Likely benign	0	0	0	0	0	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	1414.98	39	chr15	40898965	.	G	A	1414.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.260e-01;DP=801;ExcessHet=0.0000;FS=16.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.38;ReadPosRankSum=-2.080e-01;SOR=0.592	GT:AD:DP:GQ:PL	0/1:42,50:92:99:1429,0,1167	20	0	1	0
chr15	40934982	40934982	T	C	exonic	DLL4	.	nonsynonymous SNV	DLL4:NM_019074:exon8:c.T1105C:p.S369P,	Adams-Oliver syndrome 6, Autosomal dominant	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.998	D	0.948	D	0.000	D	0.999	D	1.91	M	1.31	T	-0.809	T	0.202	T	0.577	4.624	25.3	5.96	2.285	3.958	16.434	0.183	0.0233648478156	.	.	.	.	.	.	.	.	.	.	.	.	.	rs767003675	6.843e-07	2.052e-06	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.145	0.33000	T	0.998	0.73220	D	0.948	0.68536	D	0.000036	0.55875	D	0.198960	0.999457	0.47118	D	2.135	0.59519	M	1.31	0.35405	T	-2.67	0.57110	D	0.719	0.72120	-0.8088	0.54623	T	0.202	0.55905	T	10	0.66292423	0.70259	D	0.023365	0.46327	T	0.183	0.45592	0.48	0.55983	0.360112713275	0.35619	0.8813253976186521	0.88100	1.33779716334	0.83782	0.587000131607	0.51071	T	0.867269	0.97103	D	-0.0423846	0.45594	T	-0.298659	0.44867	T	0.975228250026703	0.70841	D	0.905509	0.66687	D	0.7640706	0.81694	0.7078651	0.82773	0.7640706	0.81696	0.7078651	0.82774	-9.799	0.72699	D	.	.	0.715	0.73587	P	.;.	.;.	4.760674	0.76968	26.6	0.9989403952257484	0.96742	0.89952	0.50761	D	AEFBCI	0.808896	0.73255	D	0.652761633616273	0.76550	6.506827	0.658803032760709	0.79266	7.046539	0.999998718079926	0.74766	0.460665	0.09802	0	0.588066	0.40923	0	0.59043	0.30614	0	0.636168	0.56350	0	.	.	5.96	5.96	0.96695	3.941000	0.56317	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:0.0:1.0	16.434	0.83709	150	0.94078	EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1575.98	35	chr15	40934982	.	T	C	1575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.330;DP=870;ExcessHet=0.0000;FS=1.342;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-3.350e-01;SOR=0.822	GT:AD:DP:GQ:PL	0/1:70,66:136:99:1590,0,1591	20	0	1	0
chr15	41096253	41096253	G	C	exonic	INO80	.	nonsynonymous SNV	INO80:NM_017553:exon2:c.C58G:p.L20V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.993	D	0.967	D	0.000	D	1.000	D	1.7	L	-3.11	D	0.770	D	0.844	D	0.554	4.377	23.1	5.9	2.793	9.434	20.272	0.499	0.230949694038	.	.	8.341e-06	0	0	0	0	1.513e-05	0	0	6.5e-06	1	154602	rs766496543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.07	0.43721	T	0.993	0.65571	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.755	0.45626	L	-3.11	0.92721	D	-0.97	0.25770	N	0.658	0.68255	0.770	0.94036	D	0.844	0.94774	D	10	0.575322	0.65547	D	0.23095	0.88253	D	0.499	0.78288	0.236	0.16608	0.661633646292	0.65880	0.5260119555163638	0.52525	0.310035681446	0.33317	0.780231118202	0.78962	T	0.05765	0.30625	T	0.170503	0.71171	D	0.00713946	0.70798	D	0.634292668284165	0.37796	D	0.927907	0.73422	D	0.27592942	0.50656	0.27308488	0.53225	0.27592942	0.50655	0.27308488	0.53224	-4.238	0.27298	T	.	.	0.140	0.33846	B	.;.;.	.;.;.	4.624555	0.73463	26.0	0.99802759949871023	0.88728	0.98127	0.79829	D	AEFDBCI	0.868620	0.78881	D	0.846005111031047	0.88879	9.747598	0.867441971670391	0.93991	12.42632	0.999999999923393	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.9	5.9	0.94952	9.602000	0.97623	11.835000	0.97647	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.272	0.98481	295	0.88218	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	252.56	57	chr15	41096253	.	G	C	252.56	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-3.708e+00;DP=1328;ExcessHet=0.6776;FS=161.759;InbreedingCoeff=-0.1234;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=0.522;SOR=9.149	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,16:105:14:0|1:41096253_G_C:14,0,2628:41096253	16	0	4	1
chr15	41573817	41573817	-	ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG	splicing	TYRO3	NM_006293:exon18:c.2282+2->ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG;NM_001330264:exon18:c.2147+2->ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG	.	.	.	.	425	1069	16	0	12	28	0.00742804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-06	6.84e-06	8.172e-06	5.504e-06	5.398e-06	3.46e-06	2.52e-06	1.94e-06	1.28e-06	0	0	0	0	5.632e-05	0	5.398e-06	1.656e-05	0	0.0005	0.0014	0.0005	0.0005	0.0006	0.0004	0.0003	0.0004	0.0004	0.0003	0	0.0003	0.0009	0.0004	0.0009	0	0.0006	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1269.05	35	chr15	41573817	.	T	TATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG,TATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC	1269.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.38;DP=1575;ExcessHet=0.1072;FS=0.597;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=4.50;ReadPosRankSum=-8.730e-01;SOR=0.792	GT:AD:DP:GQ:PL	0/1:137,32,0:169:99:923,0,5585,1344,5682,7025	19	0	1	0
chr15	41573817	41573817	-	ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC	splicing	TYRO3	NM_006293:exon18:c.2282+2->ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC;NM_001330264:exon18:c.2147+2->ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC	.	.	.	.	425	1069	16	0	12	28	0.00742804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.499e-05	9.718e-05	0	0	0	0.0001	0	0	.	.	.	.	4.792e-06	6.156e-06	2.724e-06	6.88e-06	0.0002	1.99e-06	1.28e-06	7.2e-07	2e-07	0	2.241e-05	0	0	3.755e-05	0.0002	2.699e-06	0	0	0.0008	0.0025	0.0009	0.0007	0.0009	0.0007	0.0006	0.0007	0.0006	0.0006	0	0.0009	0.0012	0	0.0012	0.0034	0.0009	0.0009	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1269.05	35	chr15	41573817	.	T	TATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG,TATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC	1269.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.38;DP=1575;ExcessHet=0.1072;FS=0.597;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=4.50;ReadPosRankSum=-8.730e-01;SOR=0.792	GT:AD:DP:GQ:PL	0/1:137,32,0:169:99:923,0,5585,1344,5682,7025	19	0	1	0
chr15	41876857	41876857	C	T	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon19:c.G3803A:p.R1268Q,	.	.	414	1082	25	1	0	27	0.0123231	.	.	2817469	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.57	T	0.017	B	0.004	B	0.013	N	1.000	N	0.06	N	0.82	T	-1.055	T	0.057	T	0.081	0.625	7.360	-8.99	-2.178	-1.772	9.086	0.008	0.00343847802671	0.0002	0.000798722	0.0006	0	8.82e-05	0	0.0005	0.0003	0	0.0025	0.0004981	77	154602	rs200671932	0.0005	0.0005	0.0004	0.0005	0.0039	0.0004	0.0004	0.0025	0.0022	2.991e-05	0.0003	0	2.519e-05	0.0006	0.0039	0.0003	0.0006	0.0026	0.0004	0.0004	0.0003	0.0004	0.0029	0.0003	0.0003	0.0018	0.0014	2.407e-05	0	0.0003	0	0	0.0005	0	0.0005	0.0005	0.0029	0.884	0.02519	T	0.765	0.04555	T	0.017	0.17573	B	0.004	0.10090	B	0.012587	0.01340	N	2.832730	1	0.08975	N	-0.375	0.03072	N	0.82	0.48142	T	-0.21	0.10308	N	0.112	0.09914	-1.0554	0.12934	T	0.057	0.23791	T	10	0.0044973195	0.00092	T	0.003438	0.07755	T	0.008	0.00669	.	.	0.219573609325	0.21563	0.028452692351537162	0.02795	.	.	0.232128739357	0.02129	T	0.003112	0.02515	T	-0.671936	0.00054	T	-0.744133	0.03719	T	0.0114847941959444	0.00173	T	0.408059	0.10511	T	0.016384378	0.00194	0.03111528	0.01657	0.016384378	0.00194	0.03111528	0.01657	-2.421	0.05263	T	.	.	0.069	0.03093	B	.	.	-0.850059	0.01012	0.042	0.71696171266721898	0.09717	0.00244	0.01352	N	AEFDGBI	0.032487	0.03680	N	-1.75668500971303	0.00660	0.02847344	-1.85507503699696	0.00598	0.02658657	0.999999934710636	0.74766	0.562547	0.31514	0	0.59043	0.45803	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	4.49	-8.99	0.00644	-1.859000	0.01749	-9.919000	0.00760	-0.780000	0.03343	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5362:0.2086:0.2552	9.086	0.35743	200	0.92234	.	.	.	.	.	.	Uncertain significance	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	1298.98	35	chr15	41876857	.	C	T	1298.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.969;DP=922;ExcessHet=0.0000;FS=0.762;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=-2.020e-01;SOR=0.787	GT:AD:DP:GQ:PL	0/1:43,52:95:99:1313,0,976	20	0	1	0
chr15	42081132	42081132	A	T	exonic	PLA2G4D	.	nonsynonymous SNV	PLA2G4D:NM_178034:exon12:c.T959A:p.V320E,	.	.	.	.	.	.	.	.	.	0.3396	0.342	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.987	D	0.719	P	0.000	D	0.999	D	3.005	M	3.47	T	-1.068	T	0.053	T	0.821	2.894	15.64	4.29	1.582	6.568	13.132	0.292	0.0402940568706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.987	0.61912	D	0.719	0.54822	P	0.000109	0.50451	D	0.000000	0.99932	0.46670	D	3.26	0.89945	M	3.47	0.05188	T	-5.5	0.85844	D	0.85	0.84609	-1.0678	0.09903	T	0.053	0.22307	T	10	0.85340047	0.84527	D	0.040294	0.59297	D	0.292	0.61157	0.624	0.75916	0.721900242082	0.71944	0.7074395231939061	0.70685	0.408351417736	0.41678	0.500811636448	0.38942	T	0.229917	0.59586	T	0.0913615	0.63342	D	-0.106542	0.62886	T	0.997261524200439	0.91148	D	0.814119	0.46793	T	0.9544575	0.96720	0.92239666	0.96566	0.9544575	0.96720	0.92239666	0.96566	-14.491	0.94543	D	.	.	0.817	0.78065	P	.	.	4.924119	0.81125	27.5	0.98668675733053757	0.44442	0.96592	0.69914	D	AEFBI	0.738898	0.68362	D	0.516976810812149	0.68092	5.170036	0.404806808973292	0.61864	4.392574	0.999999327747895	0.74766	0.495158	0.18159	0	0.59043	0.45803	0	0.535252	0.11790	0	0.530356	0.10902	0	.	.	4.29	4.29	0.50359	5.304000	0.65535	10.905000	0.84156	0.747000	0.86732	1.000000	0.71638	1.000000	0.68203	0.134000	0.19723	1.0:0.0:0.0:0.0	13.132	0.58803	84	0.96491	Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	245.98	33	chr15	42081132	.	A	T	245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=733;ExcessHet=0.0000;FS=5.286;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.82;ReadPosRankSum=1.38;SOR=1.700	GT:AD:DP:GQ:PL	0/1:39,12:51:99:260,0,1126	20	0	1	0
chr15	42425015	42425015	C	T	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001284306:exon12:c.G2495A:p.R832Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.018	B	0.002	B	0.001	N	0.875	D	-0.55	N	2.26	T	-0.954	T	0.012	T	0.159	1.467	10.85	1.38	0.461	2.669	6.502	0.028	0.0031779164567	.	.	8.259e-06	0	0	0	0	0	0	6.067e-05	6.5e-06	1	154602	rs201102338	2.737e-06	2.736e-06	4.084e-06	1.376e-06	2.519e-05	6.4e-07	4.3e-07	.	.	0	0	0	2.519e-05	0	0	8.995e-07	1.656e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05229	T	1.0	0.11190	T	0.018	0.17786	B	0.002	0.06944	B	0.001463	0.38917	N	0.257518	0.874903	0.35635	D	-1.215	0.00820	N	2.26	0.34841	T	1.02	0.01447	N	0.084	0.08786	-0.9539	0.40292	T	0.012	0.04653	T	10	0.04412949	0.03336	T	0.003178	0.06966	T	0.028	0.06331	0.442	0.49811	0.152612264143	0.14878	0.16610105355850002	0.16530	0.169774760906	0.19140	0.31241479516	0.12271	T	0.016165	0.13414	T	-0.273915	0.11323	T	-0.530607	0.19226	T	0.174006387591362	0.18848	T	0.873813	0.58533	D	0.01844428	0.00366	0.026616422	0.00760	0.01844428	0.00365	0.026616422	0.00760	-1.41	0.01793	T	.	.	0.061	0.12797	B	.;.;.;.;.	.;.;.;.;.	1.862669	0.23660	16.10	0.93792344813170792	0.23757	0.62194	0.31708	D	AEFBI	0.057923	0.10829	N	-0.702275833205334	0.15957	0.8088408	-0.493256124852291	0.22338	1.212843	0.834637595470684	0.24755	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.53	1.38	0.21262	2.664000	0.46448	-1.608000	0.05070	-0.176000	0.10722	1.000000	0.71638	0.000000	0.08366	0.953000	0.50222	0.0:0.4432:0.0:0.5568	6.502	0.21369	394	0.83065	WD40-repeat-containing domain;.;WD40-repeat-containing domain;WD40-repeat-containing domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1438.98	36	chr15	42425015	.	C	T	1438.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.300;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=-2.290e-01;SOR=0.681	GT:AD:DP:GQ:PL	0/1:47,57:104:99:1453,0,1105	20	0	1	0
chr15	42685478	42685478	-	TGAGCTCCAA	exonic	STARD9	.	stopgain	STARD9:NM_020759:exon23:c.3900_3901insTGAGCTCCAA:p.P1301*,	.	.	450	458	440	156	18	770	0.450839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0.0012	0.0047	0	3.84e-05	1	26028	rs760755023	0.0012	0.0011	0.0010	0.0013	0.0035	0.0011	0.0011	0.0029	0.0028	0.0004	0.0006	0.0012	2.803e-05	0.0004	0.0035	0.0011	0.0018	0.0032	0.0023	0.0024	0.0026	0.0021	0.0046	0.0021	0.0020	0.0035	0.0034	0.0005	0.0022	0.0016	0.0009	0	0.0002	0.0034	0.0039	0.0057	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	78588.79	38	chr15	42685478	.	G	A,GTGAGCTCCAA	78588.79	.	AC=13,1;AF=0.310,0.024;AN=42;BaseQRankSum=-2.021e+00;DP=5578;ExcessHet=2.0984;FS=0.534;InbreedingCoeff=-0.0714;MLEAC=13,1;MLEAF=0.310,0.024;MQ=60.00;MQRankSum=0.00;QD=15.43;ReadPosRankSum=-9.180e-01;SOR=0.645	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:244,224,0:468:99:.:.:5145,0,6668,5877,7300,13178	9	2	9	0
chr15	43599215	43599215	G	A	exonic	CKMT1B	.	nonsynonymous SNV	CKMT1B:NM_001375484:exon9:c.G1196A:p.R399H	.	.	419	1059	43	1	0	45	0.0208044	.	.	703223	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.406	B	0.13	B	0.000	D	1.000	D	2.595	M	2.73	T	-1.065	T	0.028	T	0.495	2.031	12.75	4.03	2.247	4.718	15.682	0.141	.	0.0061	0.0117812	0.0067	0.0052	0.0031	0	0.0005	0.0059	0.0088	0.0195	0.0061836	956	154602	rs149544188	0.0070	0.0070	0.0065	0.0075	0.0190	0.0069	0.0068	0.0183	0.0180	0.0039	0.0029	0.0011	2.519e-05	0.0006	0.0106	0.0070	0.0065	0.0190	0.0059	0.0059	0.0058	0.0060	0.0219	0.0056	0.0054	0.0185	0.0172	0.0050	0.0154	0.0045	0.0017	0.0002	0.0003	0.0068	0.0071	0.0033	0.0219	0.011	0.55530	D	0.048	0.48594	D	.	.	.	.	.	.	0.000043	0.53742	D	0.156324	0.999779	0.81001	D	.	.	.	2.73	0.11839	T	-2.43	0.53258	N	0.456	0.49328	-1.0646	0.10642	T	0.028	0.11795	T	10	0.012996405	0.00277	T	.	.	.	0.141	0.37795	.	.	0.440077040801	0.43627	0.5025941048459912	0.50181	1.05160835918	0.76172	0.5574041605	0.46901	T	.	.	.	-0.426914	0.01548	T	-0.371073	0.36763	T	0.0285378306420102	0.01766	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.059779	0.84328	28.3	0.99341316789047662	0.60170	0.97026	0.72262	D	AEFGI	0.783221	0.71427	D	0.153610576451665	0.48984	3.103933	0.208122804756733	0.50297	3.223305	0.0384732486356425	0.14349	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.03	4.03	0.46115	2.516000	0.45181	10.006000	0.83069	0.616000	0.49467	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	15.682	0.77130	10	0.99061	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2822.98	35	chr15	43599215	.	G	A	2822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.649;DP=995;ExcessHet=0.0000;FS=1.189;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.72;MQRankSum=-1.514e+00;QD=15.68;ReadPosRankSum=-6.000e-03;SOR=0.802	GT:AD:DP:GQ:PL	0/1:70,110:180:99:2837,0,1569	20	0	1	0
chr15	45148402	45148402	C	T	exonic	DUOX1	.	nonsynonymous SNV	DUOX1:NM_175940:exon21:c.C2773T:p.R925W	.	.	1	1485	34	2	0	38	0.012633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.010	N	1.000	D	1.67	L	-0.36	T	-0.248	T	0.390	T	0.589	3.896	19.81	2.83	1.362	1.452	11.691	0.436	.	0.0014	0.00319489	0.0032	0.0003	0.0008	0	0	0.0024	0.0033	0.0129	0.0029301	453	154602	rs145668427	0.0023	0.0023	0.0018	0.0027	0.0138	0.0022	0.0022	0.0131	0.0129	0.0003	0.0011	0.0045	5.038e-05	0.0003	0.0081	0.0016	0.0024	0.0138	0.0019	0.0019	0.0015	0.0022	0.0129	0.0017	0.0016	0.0103	0.0094	0.0005	0	0.0035	0.0032	0	0	0.0136	0.0019	0.0009	0.0129	0.004	0.68238	D	0.005	0.72224	D	1.0	0.90584	D	0.993	0.81110	D	0.010022	0.30096	N	0.338534	0.999997	0.58761	D	2.295	0.65404	M	-0.36	0.68754	T	-5.37	0.84882	D	0.681	0.69125	-0.2476	0.76424	T	0.390	0.74438	T	10	0.012992173	0.00277	T	.	.	.	0.436	0.74093	.	.	0.90792233723	0.90700	0.726876429450591	0.72631	0.99589291935	0.74233	0.660695314407	0.61509	T	0.563573	0.85432	D	-0.296382	0.09006	T	-0.187478	0.55827	T	0.043791099414861	0.04383	T	0.988918	0.96255	D	0.3405084	0.56320	0.3176283	0.57737	0.3405084	0.56320	0.3176283	0.57736	-11.24	0.80958	D	.	.	0.179	0.39064	B	.;.;.	.;.;.	4.685011	0.75006	26.3	0.99926499286156212	0.99103	0.85381	0.44508	D	AEFDGBI	0.825499	0.74518	D	0.423167992564593	0.62697	4.490105	0.36829184902414	0.59616	4.14108	0.999999853887748	0.74766	0.554377	0.28877	0	0.550933	0.16991	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.9	2.83	0.32150	1.612000	0.36501	0.448000	0.18493	-0.229000	0.07765	1.000000	0.71638	0.992000	0.31684	0.940000	0.48062	0.3221:0.6779:0.0:0.0	11.691	0.50776	616	0.66398	EF-hand domain;EF-hand domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1682.98	41	chr15	45148402	.	C	T	1682.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=980;ExcessHet=0.0000;FS=2.497;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.29;ReadPosRankSum=0.054;SOR=0.884	GT:AD:DP:GQ:PL	0/1:126,77:203:99:1697,0,2988	20	0	1	0
chr15	45659026	45659026	G	A	exonic	SQOR	.	nonsynonymous SNV	SQOR:NM_021199:exon2:c.G103A:p.G35R	.	.	432	1086	3	1	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.701	P	0.142	B	0.000	D	0.973	D	0.55	N	0.91	T	-1.068	T	0.058	T	0.404	2.154	13.16	5.5	2.580	1.907	11.456	0.191	.	7.7e-05	0.00359425	0.0028	0.0003	0.0005	0.0002	0	0.0001	0	0.0158	0.0014359	222	154602	rs142428650	0.0007	0.0007	0.0004	0.0009	0.0101	0.0006	0.0006	0.0095	0.0093	6e-05	9.394e-05	0.0004	2.549e-05	0	0.0009	3.887e-05	0.0007	0.0101	0.0005	0.0005	0.0003	0.0007	0.0120	0.0004	0.0004	0.0096	0.0087	0.0002	0	0.0001	0	0.0002	0	0	5.882e-05	0.0009	0.0120	0.039	0.43393	D	0.063	0.92824	T	0.701	0.41872	P	0.142	0.33681	B	0.000004	0.62929	D	0.142243	0.972536	0.38954	D	.	.	.	0.89	0.45636	T	-0.88	0.96142	N	0.307	0.34767	-1.0684	0.09768	T	0.058	0.24317	T	10	0.0046650767	0.00098	T	.	.	.	0.191	0.46948	0.487	0.57098	0.482137172311	0.47843	0.6805469100236138	0.67993	0.0731652301951	0.08203	0.536803841591	0.43994	T	0.117747	0.43806	T	-0.455375	0.01049	T	-0.417496	0.31363	T	0.0145089088070512	0.00296	T	0.80172	0.44782	T	0.06325829	0.13300	0.10818555	0.26057	0.06325829	0.13300	0.10818555	0.26057	-5.378	0.40707	T	.	.	0.173	0.45665	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.339502	0.29980	18.29	0.99636917953330584	0.76387	0.81866	0.41186	D	AEFBI	0.242396	0.36386	N	-0.166520531791348	0.34533	1.972327	-0.108939351564899	0.35028	2.021757	0.999993427928398	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.5	5.5	0.81386	1.971000	0.40154	5.221000	0.47999	0.676000	0.76740	0.970000	0.34288	1.000000	0.68203	0.016000	0.10718	0.0826:0.0:0.9174:0.0	11.456	0.49430	337	0.86119	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	606.98	34	chr15	45659026	.	G	A	606.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.82;DP=769;ExcessHet=0.0000;FS=2.356;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=-1.935e+00;SOR=1.128	GT:AD:DP:GQ:PL	0/1:35,25:60:99:621,0,691	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	0/1:108,48:160:99:111,0,2674	4	0	13	4
chr15	58894488	58894488	C	G	exonic	SLTM	.	nonsynonymous SNV	SLTM:NM_001013843:exon10:c.G1268C:p.C423S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.946	P	0.721	P	0.000	D	1.000	D	2.525	M	-0.85	T	0.106	D	0.510	D	0.891	3.613	18.39	5.04	2.831	6.081	15.592	0.660	0.10399616103	.	.	4.12e-05	0	0	0	0	7.493e-05	0	0	3.23e-05	5	154602	rs775102735	1.71e-05	1.71e-05	1.361e-05	2.063e-05	2.158e-05	1.174e-05	9.92e-06	1.46e-05	1.227e-05	0	0	0	0	0	0	2.158e-05	1.656e-05	0	1.314e-05	1.313e-05	0	2.69e-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	0.003	0.68238	D	0.0	0.92824	D	0.946	0.53363	P	0.721	0.54900	P	0.000005	0.62929	D	0.000000	1	0.81001	D	2.145	0.60081	M	-0.85	0.74371	T	-9.08	0.98526	D	0.831	0.82660	0.106	0.84287	D	0.510	0.81584	D	10	0.9053169	0.89896	D	0.103996	0.77834	D	0.660	0.87283	0.709	0.84509	0.770414230742	0.76831	0.781053207614071	0.78056	0.623661094439	0.56596	0.822001099586	0.85335	D	0.477	0.80736	T	0.210672	0.74893	D	0.245136	0.85387	D	0.897842586040497	0.54983	D	0.89751	0.70605	D	0.761187	0.81523	0.728835	0.83979	0.761187	0.81525	0.728835	0.83980	-10.155	0.74835	D	0.6235031819862665	0.69212	0.868	0.85851	P	.;.;.	.;.;.	4.161023	0.62489	24.5	0.99263320241619213	0.57289	0.98913	0.88541	D	AEFBI	0.862351	0.78063	D	0.569604555129216	0.71283	5.627493	0.515096690347584	0.69004	5.29896	0.999999632550615	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.96	5.04	0.67293	6.165000	0.71729	6.005000	0.52551	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.610000	0.31640	0.0:0.9332:0.0:0.0668	15.592	0.76282	480	0.77422	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;.;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1498.98	35	chr15	58894488	.	C	G	1498.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=848;ExcessHet=0.0000;FS=0.642;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=-2.040e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/1:74,58:132:99:1513,0,1870	20	0	1	0
chr15	62068167	62068167	C	G	exonic	C2CD4A	.	nonsynonymous SNV	C2CD4A:NM_207322:exon2:c.C554G:p.P185R,	.	.	439	1030	50	3	0	56	0.026465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.926	P	0.528	P	0.020	N	1.000	N	2.3	M	1.54	T	-1.036	T	0.089	T	0.155	2.429	14.08	2.27	0.540	1.115	5.297	0.048	.	.	0.0131789	0.03	.	.	.	.	0	.	0.0349	0.0009379	145	154602	rs559668449	0.0070	0.0059	0.0070	0.0070	0.0219	0.0069	0.0068	0.0196	0.0190	0.0013	0.0054	0.0016	0	0.0004	0.0219	0.0071	0.0080	0.0210	0.0050	0.0050	0.0048	0.0052	0.0240	0.0047	0.0046	0.0205	0.0192	0.0011	0	0.0077	0.0023	0.0002	0.0001	0.0103	0.0066	0.0086	0.0240	0.19	0.21144	T	0.466	0.12386	T	0.926	0.51467	P	0.528	0.48482	P	0.020106	0.27110	N	0.407190	1	0.08975	N	2.23	0.63091	M	1.54	0.30133	T	-2.83	0.59710	D	0.106	0.09066	-1.0358	0.18606	T	0.089	0.34271	T	10	0.0044558644	0.00091	T	.	.	.	0.048	0.13305	.	.	0.415564226483	0.41173	0.07747823605056867	0.07683	.	.	0.872018814087	0.92856	D	0.03263	0.22570	T	-0.537915	0.00345	T	-0.535066	0.18784	T	0.171884057492972	0.18707	T	0.483152	0.14651	T	0.09187982	0.21540	0.20716713	0.44964	0.09187982	0.21540	0.20716713	0.44963	-3.416	0.15273	T	.	.	0.178	0.38889	B	.	.	3.650064	0.51800	23.1	0.98715369769127048	0.45113	0.13037	0.17627	N	AEFDBCI	0.110325	0.21882	N	-0.298369936313342	0.29211	1.617939	-0.515289432310434	0.21738	1.177369	0.995113771093858	0.33959	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.19	2.27	0.27501	1.022000	0.29655	4.841000	0.45285	0.426000	0.20854	0.002000	0.15269	0.653000	0.25975	0.253000	0.23340	0.2009:0.6818:0.0:0.1173	5.297	0.15066	868	0.31772	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	225.46	21	chr15	62068167	.	C	G	225.46	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.970e-01;DP=462;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0488;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.05;ReadPosRankSum=1.83;SOR=0.838	GT:AD:DP:GQ:PL	0/1:6,10:16:99:234,0,162	19	0	2	0
chr15	62068224	62068224	T	A	exonic	C2CD4A	.	nonsynonymous SNV	C2CD4A:NM_207322:exon2:c.T611A:p.V204D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.039	B	0.024	B	0.019	N	0.836	N	0.69	N	1.65	T	-1.024	T	0.037	T	0.122	1.073	9.379	2.42	0.612	1.676	5.737	0.031	0.0155429438863	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1171874330	6.549e-06	6.156e-06	8.031e-06	5.008e-06	7.042e-06	2.82e-06	2.04e-06	2.93e-06	1.88e-06	0	0	0	0	0	0	7.042e-06	2.038e-05	0	6.621e-06	6.573e-06	1.294e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	0.638	0.05031	T	0.624	0.07342	T	0.039	0.21116	B	0.024	0.20255	B	0.019004	0.27353	N	0.385369	0.835969	0.28696	N	0.69	0.16971	N	1.65	0.27650	T	0.54	0.02764	N	0.127	0.12055	-1.0243	0.22311	T	0.037	0.16160	T	10	0.0422149	0.02949	T	0.015543	0.36328	T	0.031	0.07369	0.279	0.23323	0.167679373172	0.16340	0.09040664845713599	0.08973	.	.	0.891415476799	0.95436	D	0.011932	0.10575	T	-0.399278	0.02340	T	-0.6304	0.10384	T	0.0477720885755415	0.05103	T	0.407759	0.10493	T	0.115256846	0.27199	0.14923653	0.35245	0.115256846	0.27199	0.14923653	0.35244	-3.625	0.18219	T	.	.	0.122	0.25331	B	.	.	1.572929	0.20133	14.61	0.75974029367830065	0.11284	0.04997	0.10772	N	AEFDGBCIJ	0.027459	0.02246	N	-1.03875481546392	0.07809	0.3640724	-0.986560112950838	0.10087	0.5058264	0.999947381255128	0.47345	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.621717	0.48901	0	.	.	3.42	2.42	0.28720	1.462000	0.34876	0.113000	0.14809	-0.776000	0.03386	0.002000	0.15269	0.000000	0.08366	0.045000	0.14751	0.1905:0.697:0.0:0.1126	5.737	0.17339	868	0.31772	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	248.98	35	chr15	62068224	.	T	A	248.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.27;DP=624;ExcessHet=0.0000;FS=1.744;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.89;ReadPosRankSum=0.960;SOR=1.284	GT:AD:DP:GQ:PL	0/1:18,10:28:99:263,0,449	20	0	1	0
chr15	64136334	64136334	A	C	exonic	SNX1	.	nonsynonymous SNV	SNX1:NM_148955:exon11:c.A1175C:p.E392A	.	.	429	1091	2	0	0	2	0.000915751	.	.	3326366	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.165	M	0.56	T	0.016	D	0.433	T	0.842	5.289	33	6.02	2.311	9.207	15.726	0.595	0.0803818587348	.	0.000199681	4.944e-05	0	0	0	0	5.994e-05	0	0.0001	4.53e-05	7	154602	rs549703675	6.23e-05	6.293e-05	5.314e-05	7.155e-05	0.0002	5.165e-05	4.784e-05	5.398e-05	4.573e-05	0	0.0001	0	0	0	0.0002	6.211e-05	0.0001	0.0001	9.192e-05	9.185e-05	7.709e-05	0.0001	0.0003	5.524e-05	4.361e-05	0.0001	8.28e-05	2.406e-05	0	0.0003	0	0	0	0.0034	8.821e-05	0	0.0002	0.007	0.91255	D	0.007	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.045	0.86684	M	0.56	0.54540	T	-4.68	0.83489	D	0.747	0.74644	0.016	0.82582	D	0.433	0.77400	T	10	0.7654474	0.76667	D	0.080382	0.73448	D	0.595	0.83911	0.605	0.73706	0.630427430629	0.62740	0.6419598242188044	0.64130	0.809785215428	0.66680	0.69808280468	0.66867	T	0.510688	0.82695	D	0.099876	0.64279	D	0.142357	0.79697	D	0.839876115322113	0.49317	D	0.952005	0.81587	D	0.8182766	0.85104	0.7238438	0.83690	0.8182766	0.85105	0.7238438	0.83691	-10.224	0.75241	D	.	.	0.519	0.79818	A	.;.;.;.;.	.;.;.;.;.	4.652050	0.74163	26.1	0.99628714172728683	0.75898	0.99872	0.99911	D	AEFBI	0.943842	0.95020	D	0.980356878704855	0.95109	13.31688	0.939391963506412	0.97072	15.54812	0.999999999999791	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.02	6.02	0.97559	9.279000	0.94981	11.286000	0.91899	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.726	0.77519	322	0.86904	Sorting nexin Vps5-like, C-terminal;.;Sorting nexin Vps5-like, C-terminal;.;Sorting nexin Vps5-like, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1250.98	35	chr15	64136334	.	A	C	1250.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.294;DP=767;ExcessHet=0.0000;FS=0.873;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.07;ReadPosRankSum=-7.400e-02;SOR=0.859	GT:AD:DP:GQ:PL	0/1:34,49:83:99:1265,0,792	20	0	1	0
chr15	64500137	64500137	C	T	exonic	ZNF609	.	nonsynonymous SNV	ZNF609:NM_015042:exon2:c.C718T:p.R240C,	.	.	.	.	.	.	.	.	.	.	.	2354012	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.987	D	0.000	D	1.000	D	2.095	M	0.52	T	-0.426	T	0.350	T	0.588	3.581	18.24	5.66	2.830	4.536	20.099	0.191	0.0279842591611	7.7e-05	.	6.812e-05	0	0	0	0	1.544e-05	0	0.0004	5.17e-05	8	154602	rs374998036	4.516e-05	4.515e-05	2.178e-05	6.877e-05	0.0006	3.642e-05	3.322e-05	0.0005	0.0004	0	0	0	0	1.883e-05	0.0003	8.094e-06	3.311e-05	0.0006	1.973e-05	1.97e-05	1.286e-05	2.693e-05	4.411e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.77487	D	0.000004	0.62929	D	0.061375	1	0.81001	D	2.39	0.68882	M	0.52	0.55266	T	-3.62	0.69593	D	0.335	0.37613	-0.4265	0.71180	T	0.350	0.71391	T	10	0.20631972	0.36889	T	0.027984	0.50729	D	0.191	0.46948	.	.	0.2338531098	0.23012	0.6776902328635106	0.67708	1.09109443425	0.77432	0.773609995842	0.77965	T	0.28497	0.65776	T	-0.214493	0.18750	T	-0.188397	0.55740	T	0.555574982508706	0.34687	D	0.920608	0.74231	D	0.26935256	0.50008	0.2753401	0.53469	0.26935256	0.50007	0.2753401	0.53468	-6.449	0.49891	T	.	.	0.297	0.52760	B	.;.	.;.	5.359957	0.89889	31	0.99932904429344771	0.99488	0.98276	0.81177	D	AEFBI	0.720608	0.67111	D	0.764741716977332	0.83860	8.129726	0.752189619182908	0.86320	8.851655	0.999999986121376	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	4.513000	0.60194	7.672000	0.64834	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	20.099	0.97859	236	0.90801	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1589.98	36	chr15	64500137	.	C	T	1589.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=817;ExcessHet=0.0000;FS=5.895;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=-4.830e-01;SOR=1.288	GT:AD:DP:GQ:PL	0/1:61,56:117:99:1604,0,1644	20	0	1	0
chr15	65198943	65198943	C	T	exonic	CILP	.	nonsynonymous SNV	CILP:NM_003613:exon9:c.G1343A:p.R448H,	.	.	420	1050	47	5	0	57	0.0264256	.	.	3195415	CILP-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.13	T	0.713	P	0.132	B	0.033	N	0.977	N	0.695	N	1.17	T	-1.079	T	0.043	T	0.146	1.656	11.49	-5.55	-0.987	0.397	15.675	0.084	.	0.0012	0.00379393	0.0025	0.0003	0.0009	0.0003	0	0.0018	0.0044	0.0102	0.0023286	360	154602	rs35714337	0.0016	0.0016	0.0012	0.0019	0.0180	0.0015	0.0015	0.0152	0.0142	0.0005	0.0008	0.0015	7.557e-05	0.0002	0.0180	0.0009	0.0022	0.0106	0.0012	0.0012	0.0011	0.0013	0.0120	0.0011	0.0010	0.0095	0.0087	0.0003	0	0.0016	0.0014	0	0	0.0204	0.0011	0.0028	0.0120	0.131	0.26629	T	0.089	0.40426	T	0.713	0.42139	P	0.132	0.33005	B	0.032807	0.24980	N	0.434403	0.976827	0.25350	N	0.975	0.24501	L	1.17	0.37910	T	-1.89	0.44094	N	0.111	0.09772	-1.0795	0.07446	T	0.043	0.18701	T	10	0.008961439	0.00203	T	.	.	.	0.084	0.24469	.	.	0.300784259202	0.29686	0.4359575425787303	0.43512	0.276762445521	0.30141	0.249269723892	0.03691	T	0.099996	0.40535	T	-0.561982	0.00247	T	-0.57063	0.15391	T	0.0173038212512081	0.00470	T	0.889711	0.62218	D	0.07019133	0.15439	0.07204367	0.15495	0.07019133	0.15439	0.07204367	0.15495	-5.267	0.39615	T	.	.	0.091	0.13315	B	.	.	1.498561	0.19264	14.18	0.9521326956705326	0.26423	0.35992	0.25430	N	AEFBI	0.087050	0.17650	N	-0.683684130004529	0.16487	0.8404029	-0.709512211037322	0.16724	0.8860478	0.00839299784249875	0.11668	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	6.03	-5.55	0.02336	0.400000	0.20657	-2.572000	0.03594	-0.187000	0.09635	0.994000	0.38300	0.000000	0.08366	0.835000	0.39381	0.0:0.1855:0.0:0.8145	15.675	0.77063	636	0.64483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2378.98	37	chr15	65198943	.	C	T	2378.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.531;DP=987;ExcessHet=0.0000;FS=1.861;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=0.338;SOR=0.846	GT:AD:DP:GQ:PL	0/1:83,92:175:99:2393,0,2067	20	0	1	0
chr15	65330328	65330328	C	T	exonic	IGDCC3	.	nonsynonymous SNV	IGDCC3:NM_004884:exon11:c.G1823A:p.R608H,	.	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.964	D	0.000	D	1.000	D	2.175	M	-0.22	T	-0.135	T	0.439	T	0.628	3.631	18.47	4.35	1.218	7.466	13.593	0.272	0.0638956482271	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs1405532603	2.531e-05	2.599e-05	2.587e-05	2.476e-05	0.0003	1.868e-05	1.631e-05	6.092e-05	2.521e-05	2.987e-05	4.475e-05	0	2.519e-05	1.873e-05	0.0003	2.338e-05	3.312e-05	2.319e-05	1.314e-05	1.313e-05	0	2.69e-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	0.07	0.68238	T	0.004	0.74150	D	1.0	0.90584	D	0.964	0.71005	D	0.000051	0.53742	D	0.126644	0.999978	0.53665	D	2.91	0.84121	M	-0.22	0.66474	T	-2.3	0.51157	N	0.555	0.58031	-0.1349	0.79287	T	0.439	0.77809	T	10	0.6952081	0.72100	D	0.063896	0.69109	D	0.272	0.58758	0.367	0.37524	0.869428651524	0.86816	0.6972083331393912	0.69661	0.169117213538	0.19062	0.784066796303	0.79543	T	0.239154	0.60721	T	0.107901	0.65133	D	-0.0827835	0.64700	T	0.914657652378082	0.57138	D	0.89771	0.64209	D	0.09789443	0.23082	0.081019856	0.18378	0.09789443	0.23082	0.081019856	0.18377	-8.342	0.63377	D	.	.	0.182	0.39511	B	.;.	.;.	5.196013	0.87160	29.1	0.99925205770110082	0.99042	0.97968	0.78509	D	AEFDGBCI	0.930682	0.91834	D	0.565542919249723	0.71033	5.589853	0.4825316804223	0.66832	5.00382	0.999999999745463	0.74766	0.712529	0.81865	0	0.59043	0.45803	0	0.635938	0.45252	0	0.542086	0.14980	0	.	.	5.26	4.35	0.51454	5.812000	0.68868	5.932000	0.51336	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.721000	0.34804	0.0:0.9255:0.0:0.0745	13.593	0.61438	548	0.72362	Fibronectin type III;Fibronectin type III	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1218.98	35	chr15	65330328	.	C	T	1218.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.490e-01;DP=847;ExcessHet=0.0000;FS=3.021;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.35;ReadPosRankSum=-1.063e+00;SOR=0.617	GT:AD:DP:GQ:PL	0/1:90,56:146:99:1233,0,2226	20	0	1	0
chr15	66326260	66326260	C	G	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon11:c.C1719G:p.S573R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.029	B	0.033	B	0.056	N	1.000	D	0.49	N	1.3	T	-1.076	T	0.043	T	0.166	2.434	14.10	2.44	0.229	0.607	5.619	0.025	0.00807237602779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	7.595e-05	1.363e-06	1.376e-06	1.801e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	0	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.155	0.25355	T	0.353	0.17320	T	0.029	0.19866	B	0.033	0.22329	B	0.055829	0.22610	N	0.539436	0.999548	0.47497	D	-0.285	0.03692	N	1.3	0.35590	T	-1.92	0.44657	N	0.196	0.22228	-1.0764	0.08063	T	0.043	0.18618	T	10	0.08429423	0.14113	T	0.008072	0.21393	T	0.025	0.05312	0.424	0.46857	0.500994481783	0.49735	0.48282530288770603	0.48202	0.189759959303	0.21295	0.441389143467	0.30767	T	0.019826	0.15725	T	-0.2058	0.19975	T	-0.533394	0.18948	T	0.371591597795486	0.27858	T	0.811819	0.46320	T	0.13266377	0.30883	0.17544033	0.40009	0.13266377	0.30882	0.17544033	0.40008	-9.64	0.71728	D	.	.	0.195	0.42820	B	.;.	.;.	2.006311	0.25495	16.78	0.99354999151066503	0.60738	0.93367	0.58027	D	AEFBI	0.310496	0.41649	N	-0.52080163687102	0.21409	1.135919	-0.344169861240159	0.26690	1.475863	0.235350875039061	0.18512	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	2.44	0.28875	0.637000	0.24348	0.590000	0.19811	0.581000	0.30040	0.997000	0.40164	0.998000	0.33993	0.995000	0.73285	0.0:0.5695:0.1341:0.2964	5.619	0.16725	644	0.63734	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	421.01	75	chr15	66326260	.	C	G	421.01	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.199e+00;DP=1586;ExcessHet=2.5830;FS=250.229;InbreedingCoeff=-0.2058;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.66;ReadPosRankSum=1.02;SOR=10.704	GT:AD:DP:GQ:PL	0/1:66,19:85:44:44,0,1745	14	0	7	0
chr15	69268861	69268861	A	G	exonic	GLCE	.	nonsynonymous SNV	GLCE:NM_001324092:exon4:c.A700G:p.M234V	.	.	434	1072	16	0	0	16	0.00740741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.309	B	0.09	B	0.000	D	1.000	D	2.175	M	0.97	T	-0.921	T	0.114	T	0.786	0.902	8.665	4.02	2.099	7.214	11.036	0.272	0.0168062404685	0.0020	0.000199681	0.0014	0	0.0012	0	0	0.0019	0.0022	0.0015	0.0013389	207	154602	rs147014086	0.0012	0.0012	0.0011	0.0012	0.0139	0.0011	0.0011	0.0114	0.0105	0.0002	0.0012	0.0110	5.038e-05	9.36e-05	0.0139	0.0009	0.0027	0.0014	0.0011	0.0011	0.0011	0.0011	0.0021	0.0010	0.0009	0.0011	0.0010	4.809e-05	0	0.0011	0.0124	0	9.407e-05	0.0136	0.0013	0.0014	0.0021	0.011	0.55530	D	0.028	0.54934	D	0.309	0.32767	B	0.09	0.29851	B	0.000000	0.84330	D	0.036254	1	0.81001	D	2.2	0.62015	M	0.97	0.42502	T	-2.1	0.47852	N	0.595	0.61426	-0.9214	0.45362	T	0.114	0.40490	T	10	0.012432635	0.00267	T	0.016806	0.38239	T	0.272	0.58758	.	.	0.441017621159	0.43723	0.7659170642754496	0.76540	0.571138452708	0.53254	0.698372006416	0.66909	T	0.401003	0.75842	T	-0.20798	0.19665	T	-0.101605	0.63273	T	0.0736864123935904	0.09159	T	0.963704	0.86510	D	0.77997917	0.82652	0.76286286	0.85990	0.77997917	0.82654	0.76286286	0.85991	-8.104	0.61778	D	.	.	0.258	0.54309	B	.;.	.;.	3.152068	0.42675	21.6	0.94784709287691893	0.25519	0.96558	0.69741	D	AEFBI	0.873180	0.79540	D	0.11504746496933	0.47166	2.946017	0.173533727048371	0.48403	3.056581	0.999917990890385	0.45857	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.23	4.02	0.45968	7.167000	0.77125	7.877000	0.72286	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.8445:0.1554:0.0:0.0	11.036	0.47016	923	0.18507	D-glucuronyl C5-epimerase, C-terminal;D-glucuronyl C5-epimerase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2121.98	34	chr15	69268861	.	A	G	2121.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.11;DP=1013;ExcessHet=0.0000;FS=1.805;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=0.126;SOR=0.562	GT:AD:DP:GQ:PL	0/1:107,81:188:99:2136,0,2692	20	0	1	0
chr15	70669383	70669383	G	A	exonic	UACA	.	nonsynonymous SNV	UACA:NM_001008224:exon16:c.C1262T:p.T421M	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.968	D	0.57	P	0.039	N	1.000	N	1.5	L	1.88	T	-1.040	T	0.098	T	0.217	1.393	10.59	3.71	0.702	1.106	9.611	0.064	0.0330955252907	0.0002	.	0.0002	0	0.0003	0	0	0.0002	0	0.0001	0.0001423	22	154602	rs142769157	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	5.976e-05	0.0002	0.0002	2.52e-05	1.873e-05	0.0005	0.0002	0.0001	0.0001	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	0.0001	0.0011	6.569e-05	0	0	0	0	0.0003	0.0005	0	0.008	0.72154	D	0.016	0.60972	D	0.934	0.56581	P	0.272	0.49854	B	0.038599	0.24268	N	0.351093	1	0.08975	N	1.79	0.46772	L	1.39	0.34841	T	-1.72	0.42191	N	0.174	0.19325	-1.0396	0.17434	T	0.098	0.36625	T	10	0.06083408	0.07535	T	0.033096	0.54740	D	0.064	0.18567	.	.	0.410734915765	0.40690	0.09155677771344256	0.09088	0.293687643121	0.31787	0.355368673801	0.18710	T	0.229169	0.59491	T	-0.384201	0.02930	T	-0.482238	0.24209	T	0.0841191361431017	0.10506	T	0.941006	0.78180	D	0.052755553	0.09887	0.08566859	0.19797	0.052755553	0.09886	0.08566859	0.19796	-4.362	0.29285	T	.	.	0.093	0.13923	B	.;.;.;.;.	.;.;.;.;.	2.785705	0.36605	20.3	0.99683688237867807	0.79440	0.39854	0.26306	N	AEFDGBHI	0.141939	0.26425	N	-0.267206086794292	0.30423	1.696199	-0.387989886368712	0.25354	1.393797	0.999999981955911	0.74766	0.67177	0.52595	0	0.374146	0.05931	1	0.688494	0.62686	0	0.711	0.71501	0	.	.	5.61	3.71	0.41733	1.144000	0.31177	4.418000	0.43305	0.618000	0.50648	0.002000	0.15269	1.000000	0.68203	0.055000	0.15596	0.0747:0.1416:0.7837:0.0	9.611	0.38828	945	0.12563	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1379.98	42	chr15	70669383	.	G	A	1379.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.918;DP=881;ExcessHet=0.0000;FS=1.837;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.68;ReadPosRankSum=-2.009e+00;SOR=1.005	GT:AD:DP:GQ:PL	0/1:44,50:94:99:1394,0,1134	20	0	1	0
chr15	71242660	71242660	G	A	exonic	THSD4	.	nonsynonymous SNV	THSD4:NM_024817:exon4:c.G476A:p.R159H,	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.004	B	0.002	B	0.074	N	1.000	N	1.75	L	-0.19	T	-0.919	T	0.227	T	0.233	1.490	10.93	2.64	0.675	0.964	7.858	0.084	0.0187193452693	0.0003	0.000399361	0.0002	0	8.649e-05	0	0	0.0003	0	0.0003	0.0002135	33	154602	rs201535999	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	5.974e-05	4.472e-05	0.0014	2.519e-05	0	0.0003	0.0002	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	0.0001	0.0001	0	0	0.0012	0	0	0	0.0002	0	0.0006	0.004	0.65419	D	0.007	0.69154	D	0.004	0.12183	B	0.002	0.06944	B	0.074380	0.02286	N	1.997550	0.994628	0.23478	N	1.965	0.53209	M	-0.19	0.65931	T	-2.22	0.49846	N	0.315	0.35514	-0.9189	0.45702	T	0.227	0.59246	T	10	0.0182029	0.00394	T	0.018719	0.40875	T	0.084	0.24469	.	.	0.264547087235	0.26054	0.49691611454228674	0.49612	0.20816477634	0.23283	0.512580752373	0.40583	T	0.088023	0.38068	T	-0.312942	0.07491	T	-0.38132	0.35568	T	0.0666987947655846	0.08180	T	0.623338	0.24021	T	0.06528819	0.13939	0.067734	0.14052	0.06528819	0.13939	0.067734	0.14051	-4.204	0.26809	T	.	.	0.082	0.08560	B	.	.	2.165028	0.27584	17.51	0.99434454267005534	0.64423	0.21192	0.21314	N	AEFBI	0.084767	0.17181	N	-0.520520912272591	0.21418	1.136463	-0.490170525246007	0.22423	1.217838	0.900327269587957	0.26073	0.615465	0.37627	0	0.624306	0.53593	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.62	2.64	0.30504	1.017000	0.29591	2.669000	0.33934	0.676000	0.76740	0.029000	0.20367	0.988000	0.31051	0.153000	0.20410	0.2839:0.0:0.7161:0.0	7.858	0.28655	719	0.55657	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1688.98	35	chr15	71242660	.	G	A	1688.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.29;DP=816;ExcessHet=0.0000;FS=3.535;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=0.196;SOR=1.090	GT:AD:DP:GQ:PL	0/1:68,58:126:99:1703,0,1700	20	0	1	0
chr15	71737961	71737961	C	G	exonic	THSD4	.	nonsynonymous SNV	THSD4:NM_001286429:exon5:c.C780G:p.N260K	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	1.0	D	0.996	D	.	.	1.000	D	1.245	L	0.45	T	-0.791	T	0.242	T	0.313	3.492	17.86	2.84	1.214	4.273	8.617	0.201	0.0199889793541	.	.	1.669e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs769956305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.97e-05	1.97e-05	3.853e-05	0	7.235e-05	5.24e-06	2.45e-06	1.918e-05	1.032e-05	7.235e-05	0	0	0	0	0	0	0	0	0	0.273	0.15876	T	0.281	0.21745	T	0.959	0.55135	D	0.643	0.52216	P	.	.	.	.	0.999993	0.58761	D	1.65	0.42232	L	0.16	0.60610	T	-1.07	0.27876	N	0.893	0.89577	-0.7914	0.55648	T	0.242	0.61012	T	9	0.5530514	0.64364	D	0.019989	0.42488	T	0.201	0.48592	0.366	0.37361	0.56265594507	0.55928	0.5138769750314345	0.51309	0.193357801242	0.21667	0.699511885643	0.67073	T	0.030742	0.21720	T	-0.225263	0.17281	T	-0.324683	0.42059	T	0.21309600620813	0.21114	T	0.864413	0.56163	D	0.1418258	0.32664	0.09851714	0.23490	0.1418258	0.32663	0.09851714	0.23489	-10.983	0.84754	D	.	.	0.755	0.75291	P	.;.	.;.	4.159025	0.62440	24.5	0.99725907669812386	0.82406	0.97364	0.74282	D	AEFGBI	0.636368	0.61554	D	0.305193647899592	0.56414	3.806145	0.297669671546253	0.55402	3.703384	0.999965680756011	0.48965	0.752111	0.98806	0	0.563428	0.19063	0	0.658983	0.55881	0	0.503917	0.08554	0	.	.	4.8	2.84	0.32241	4.336000	0.59087	1.763000	0.28569	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.7576:0.1542:0.0882	8.617	0.32999	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2534.98	33	chr15	71737961	.	C	G	2534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.779;DP=951;ExcessHet=0.0000;FS=1.011;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.30;ReadPosRankSum=0.349;SOR=0.796	GT:AD:DP:GQ:PL	0/1:145,101:246:99:2549,0,3822	20	0	1	0
chr15	72474694	72474696	GAG	-	exonic	ARIH1	.	nonframeshift deletion	ARIH1:NM_005744:exon1:c.55_57del:p.E20del,	.	.	4	1509	8	1	0	10	0.00330251	.	.	1564042	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0.0018	0.0002	0.0004	0	0	8.771e-05	0.0020	0.0094	0.0003842	10	26028	rs534030629	0.0005	0.0005	0.0003	0.0007	0.0071	0.0004	0.0004	0.0067	0.0065	3.342e-05	0.0001	0	5.758e-05	1.916e-05	0.0005	4.119e-05	0.0004	0.0071	0.0002	0.0002	0.0001	0.0003	0.0056	0.0002	0.0001	0.0040	0.0034	0	0	6.564e-05	0	0	0	0	4.426e-05	0.0005	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1856.94	33	chr15	72474693	.	TGAG	T	1856.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.220e-01;DP=786;ExcessHet=0.0000;FS=2.713;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.97;ReadPosRankSum=1.99;SOR=0.602	GT:AD:DP:GQ:PL	0/1:45,48:93:99:1871,0,1742	20	0	1	0
chr15	82344935	82344935	G	0	exonic	GOLGA6L10	.	.	.	.	.	531	861	98	1	31	131	0.0548847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	326.23	37	chr15	82344935	.	G	A,*	326.23	.	AC=1,5;AF=0.025,0.125;AN=40;DP=1617;ExcessHet=1.8958;FS=22.164;InbreedingCoeff=-0.0857;MLEAC=1,5;MLEAF=0.025,0.125;MQ=34.00;QD=0.61;SOR=1.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:33,21,0:54:99:.:.:511,0,924,333,922,1184	14	0	1	1
chr15	82344942	82344942	T	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	976.39	35	chr15	82344942	.	T	C,*	976.39	.	AC=2,5;AF=0.125,0.313;AN=16;BaseQRankSum=2.59;DP=1794;ExcessHet=0.5718;FS=29.828;InbreedingCoeff=-0.0755;MLEAC=4,9;MLEAF=0.250,0.563;MQ=47.54;MQRankSum=-4.628e+00;QD=1.84;ReadPosRankSum=1.21;SOR=1.686	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,50,0:50:99:.:.:1954,150,0,1124,147,977	2	1	0	13
chr15	82345004	82345046	ATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	718.55	4	chr15	82345004	.	ATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG	*,A,GTAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG	718.55	.	AC=4,1,1;AF=0.200,0.050,0.050;AN=20;BaseQRankSum=1.91;DP=1733;ExcessHet=2.6804;FS=27.756;InbreedingCoeff=-0.1646;MLEAC=7,2,2;MLEAF=0.350,0.100,0.100;MQ=47.51;MQRankSum=-6.640e+00;QD=1.18;ReadPosRankSum=-1.278e+00;SOR=1.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:4,0,0,27:31:86:0|1:82345004_A_G:934,512,600,512,600,600,0,165,165,86:82345004	4	0	4	11
chr15	82345025	82345025	G	0	exonic	GOLGA6L10	.	.	.	.	.	642	820	47	0	13	60	0.0278601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	307.4	24	chr15	82345025	.	G	A,*	307.4	.	AC=1,5;AF=0.026,0.132;AN=38;DP=1749;ExcessHet=2.0135;FS=30.096;InbreedingCoeff=-0.1941;MLEAC=1,5;MLEAF=0.026,0.132;MQ=37.25;QD=0.49;SOR=1.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,18,0:53:99:0|1:82345004_A_G:473,0,1285,314,1338,1602:82345004	13	0	1	2
chr15	82345026	82345110	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1003.57	118	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*,T	1003.57	.	AC=6,3;AF=0.158,0.079;AN=38;BaseQRankSum=1.42;DP=2239;ExcessHet=1.1637;FS=1.330;InbreedingCoeff=-0.0364;MLEAC=6,3;MLEAF=0.158,0.079;MQ=40.84;MQRankSum=0.975;QD=1.08;ReadPosRankSum=-1.194e+00;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:1,0,27:30:99:.:.:1198,664,1224,637,0,1375	11	0	5	2
chr15	82345027	82345110	AGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	-	exonic	GOLGA6L10	.	nonframeshift deletion	GOLGA6L10:NM_001164465:exon6:c.750_833del:p.R286_L313del	.	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0017	0.0007	0.0007	0.0028	0.0007	0.0006	0.0020	0.0017	0.0007	0.0010	0.0026	0.0028	0.0016	0.0008	0.0006	0.0014	0.0005	0.0006	0.0016	0.0005	0.0007	0.0028	0.0004	0.0004	0.0011	0.0007	0.0005	0	0.0003	0.0005	0	0.0017	0	0.0004	0.0010	0.0028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1003.57	118	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*,T	1003.57	.	AC=6,3;AF=0.158,0.079;AN=38;BaseQRankSum=1.42;DP=2239;ExcessHet=1.1637;FS=1.330;InbreedingCoeff=-0.0364;MLEAC=6,3;MLEAF=0.158,0.079;MQ=40.84;MQRankSum=0.975;QD=1.08;ReadPosRankSum=-1.194e+00;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:1,0,27:30:99:.:.:1198,664,1224,637,0,1375	11	0	5	2
chr15	82345087	82345087	C	0	exonic	GOLGA6L10	.	.	.	.	.	748	741	8	0	25	33	0.00536913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	1995.03	118	chr15	82345087	.	C	T,*	1995.03	.	AC=3,4;AF=0.083,0.111;AN=36;BaseQRankSum=0.682;DP=2432;ExcessHet=2.7391;FS=0.630;InbreedingCoeff=-0.2500;MLEAC=3,4;MLEAF=0.083,0.111;MQ=38.42;MQRankSum=-1.259e+00;QD=2.52;ReadPosRankSum=-2.066e+00;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:1,0,0:30:99:.:.:534,623,1252,0,631,560	11	0	3	3
chr15	82436358	82436358	T	G	exonic	GOLGA6L9	.	nonsynonymous SNV	GOLGA6L9:NM_001291420:exon8:c.T772G:p.C258G	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.938	P	0.607	P	.	.	1.000	N	0.895	L	1.23	T	-1.039	T	0.078	T	0.111	0.950	8.874	.	0.093	1.144	.	0.014	0.24084355929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1222386438	6.501e-05	6.774e-05	6.607e-05	6.393e-05	0.0001	5.42e-05	5.03e-05	8.031e-05	6.263e-05	0	2.239e-05	0	5.054e-05	0	0	7.114e-05	0	0.0001	1.995e-05	1.973e-05	2.595e-05	1.364e-05	0.0002	5.3e-06	2.47e-06	4.91e-06	1.84e-06	0	0	0	0	0	0	0	2.962e-05	0	0.0002	.	.	.	0.035	0.52389	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	0.14455	N	.	.	.	.	.	.	0.092	0.07125	-0.8647	0.50922	T	0.107	0.38832	T	3	0.13499531	0.25689	T	0.522397	0.95466	D	.	.	.	.	0.139678290688	0.13603	0.044512789476439864	0.04395	.	.	0.554562568665	0.46500	T	0.016229	0.13458	T	-0.186805	0.22729	T	-0.506109	0.21716	T	0.190668104664629	0.19884	T	0.349665	0.07767	T	0.1489816	0.33986	0.27699506	0.53649	0.1489816	0.33986	0.27699506	0.53648	0.083	0.00321	T	.	.	0.097	0.15609	B	.	.	0.985773	0.13635	10.17	0.89721318054495092	0.19042	0.08688	0.14581	N	AEFI	0.060809	0.11582	N	-0.484220442244558	0.22598	1.207735	-0.666034344942982	0.17812	0.9488066	1.09608764381542E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	-0.241000	0.08958	4.567000	0.43865	-0.774000	0.03397	0.004000	0.16614	0.722000	0.26360	0.009000	0.08673	.	.	.	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	300.06	35	chr15	82436358	.	T	G	300.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.975;DP=770;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.024;MQ=41.16;MQRankSum=1.67;QD=3.03;ReadPosRankSum=1.54;SOR=0.704	GT:AD:DP:GQ:PL	0/1:78,21:99:99:314,0,1767	20	0	1	0
chr15	84239998	84239998	-	ACGTGAACAGGAGGAGAGGCA	exonic	GOLGA6L4	.	nonframeshift insertion	GOLGA6L4:NM_001267536:exon6:c.644_645insACGTGAACAGGAGGAGAGGCA:p.E219_D220insERQREQE,	.	.	985	495	13	25	4	67	0.0598291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	.	0	1.29e-05	2	154602	rs779561802	0.0105	0.0058	0.0101	0.0109	0.2682	0.0102	0.0101	0.2596	0.2561	0.0231	0.0037	0.0223	0.2682	0.0079	0.0042	0.0006	0.0141	0.0199	0.0008	0.0050	0.0003	0.0013	0.0208	0.0004	0.0003	0.0027	0.0017	0.0068	0	0	0	0	0	0	0.0001	0.0143	0.0208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3522.01	6	chr15	84239998	.	T	A,TACGTGAACAGGAGGAGAGGCA	3522.01	.	AC=6,3;AF=0.250,0.125;AN=24;BaseQRankSum=-1.282e+00;DP=208;ExcessHet=0.0000;FS=1.808;InbreedingCoeff=0.6093;MLEAC=9,5;MLEAF=0.375,0.208;MQ=41.82;MQRankSum=2.07;QD=30.81;ReadPosRankSum=0.425;SOR=0.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,2,0:6:17:0|1:84239998_T_A:17,0,162,29,168,197:84239998	7	2	1	9
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	1/1:0,125,0:125:99:4067,375,0,4067,375,4067	0	11	9	0
chr15	86556250	86556250	A	G	exonic	AGBL1	.	nonsynonymous SNV	AGBL1:NM_152336:exon22:c.A3022G:p.K1008E,	Corneal dystrophy, Fuchs endothelial, 8, Autosomal dominant	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.002	B	0.003	B	.	.	1.000	N	0.695	N	2.97	T	-0.972	T	0.004	T	0.053	1.043	9.259	-3.07	-0.667	-0.019	5.149	0.007	.	0.0101	0.0091853	0.0032	0.0358	0.0024	0	0	0.0003	0.0023	0	0.0029883	462	154602	rs8027697	0.0012	0.0012	0.0014	0.0011	0.0343	0.0012	0.0012	0.0327	0.0320	0.0343	0.0030	3.828e-05	0	3.747e-05	0.0045	0.0003	0.0025	0.0002	0.0098	0.0099	0.0102	0.0094	0.0337	0.0094	0.0093	0.0323	0.0317	0.0337	0	0.0032	0	0	0	0.0102	0.0005	0.0043	0	.	.	.	.	.	.	0.002	0.09854	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	.	.	.	.	.	.	.	.	-0.9716	0.36862	T	0.004	0.01330	T	9	0.0030976534	0.00051	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.13417044514015097	0.13341	0.0101191796279	0.00928	0.33593338728	0.15828	T	0.002332	0.01729	T	-0.73992	0.00021	T	-0.809858	0.01668	T	0.00128273424086492	0.00013	T	0.291871	0.05342	T	0.048361775	0.08416	0.056080893	0.09957	0.035681266	0.04245	0.045619737	0.06179	.	.	.	.	.	0.075	0.05623	B	.;.	.;.	0.120087	0.05175	1.694	0.72296846955035388	0.09924	0.00871	0.03451	N	AEFDGHCIJ	0.032951	0.03821	N	-1.31514049118433	0.03501	0.1565053	-1.40212396969966	0.03231	0.1502883	0.999999997681145	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.47	-3.07	0.05038	-0.267000	0.08648	0.462000	0.18628	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.3783:0.1837:0.4379:0.0	5.149	0.14327	936	0.14734	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	569.98	44	chr15	86556250	.	A	G	569.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.97;DP=743;ExcessHet=0.0000;FS=2.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=0.875;SOR=1.034	GT:AD:DP:GQ:PL	0/1:23,22:45:99:584,0,507	20	0	1	0
chr15	89333605	89333605	-	TGC	exonic	POLG	.	nonframeshift insertion	POLG:NM_001126131:exon2:c.149_150insGCA:p.Q55_P56insQ	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	0/3:39,2,0,49:90:99:1945,1822,3311,1992,3374,3551,0,1503,1615,1489	8	0	10	0
chr15	89333597	89333605	TGCTGCTGC	-	exonic	POLG	.	nonframeshift deletion	POLG:NM_001126131:exon2:c.150_158del:p.Q53_Q55del	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	203057	Inborn_genetic_diseases|not_specified|Hereditary_spastic_paraplegia|POLG-related_disorder|Progressive_sclerosing_poliodystrophy|not_provided|Mitochondrial_DNA_depletion_syndrome_4b|Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1|Mitochondrial_DNA_depletion_syndrome_1	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:CN180166|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726|MedGen:C3661900|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662,Orphanet:298|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphanet:70595|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450,Orphanet:254886|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041,Orphanet:298	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0022	0.0012	0.0025	0.0006	0.0027	0.0018	0.0033	0.0014683	227	154602	rs756833779	0.0024	0.0024	0.0024	0.0024	0.0035	0.0024	0.0023	0.0026	0.0025	0.0014	0.0014	7.735e-05	0.0020	0.0003	0.0035	0.0026	0.0027	0.0024	0.0021	0.0021	0.0021	0.0021	0.0031	0.0019	0.0019	0.0024	0.0023	0.0015	0	0.0022	0.0003	0.0031	0.0002	0.0034	0.0027	0.0024	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	0/3:39,2,0,49:90:99:1945,1822,3311,1992,3374,3551,0,1503,1615,1489	8	0	10	0
chr15	89333605	89333605	-	TGCTGC	exonic	POLG	.	nonframeshift insertion	POLG:NM_001126131:exon2:c.149_150insGCAGCA:p.Q55_P56insQQ	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	0/3:39,2,0,49:90:99:1945,1822,3311,1992,3374,3551,0,1503,1615,1489	8	0	10	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	.	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	31349.59	49	chr15	89776903	.	AGGGCAGGGGCAG	*,A	31349.59	.	AC=14,28;AF=0.333,0.667;AN=42;BaseQRankSum=0.794;DP=1383;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=14,28;MLEAF=0.333,0.667;MQ=60.00;MQRankSum=0.00;QD=27.92;ReadPosRankSum=0.595;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,21,34:55:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:2315,1336,1307,839,0,773:89776889	0	0	0	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	0/1:42,32:74:99:707,0,1157	15	0	6	0
chr16	547082	547082	G	C	exonic	CAPN15	.	nonsynonymous SNV	CAPN15:NM_005632:exon4:c.G244C:p.V82L,	.	.	404	1115	2	1	0	4	0.00179051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.007	B	0.009	B	0.817	N	1.000	N	0.55	N	-2.32	D	-0.794	T	0.372	T	0.14	0.581	7.137	-4.75	-0.913	-0.031	11.665	0.157	.	0.0007	0.00219649	0.0033	0.0002	0.0005	0.0012	0	0.0026	0.0044	0.0118	0.0017529	271	154602	rs201488864	0.0010	0.0010	0.0009	0.0011	0.0065	0.0010	0.0009	0.0060	0.0059	0.0001	0.0003	0.0042	0.0009	0.0003	0.0010	0.0006	0.0013	0.0065	0.0009	0.0009	0.0007	0.0010	0.0083	0.0007	0.0007	0.0063	0.0055	4.808e-05	0	0.0007	0.0052	0.0015	0	0	0.0008	0.0005	0.0083	0.403	0.16574	T	0.126	0.35205	T	0.007	0.14184	B	0.009	0.14300	B	0.817441	0.09205	N	0.896444	1	0.08975	N	0.895	0.22405	L	-2.32	0.87830	D	-0.92	0.24676	N	0.184	0.19995	-0.7939	0.55502	T	0.372	0.73076	T	10	0.0034773946	0.00062	T	.	.	.	0.157	0.40909	.	.	0.597565973722	0.59436	0.1925431748783942	0.19172	.	.	0.35904815793	0.19247	T	0.02648	0.19585	T	-0.433201	0.01418	T	-0.390895	0.34445	T	0.0274290727443404	0.01606	T	0.791621	0.43272	T	0.030927548	0.02843	0.041754015	0.04819	0.030927548	0.02842	0.041754015	0.04819	-5.158	0.38512	T	.	.	0.099	0.29422	B	.;.;.	.;.;.	-0.288928	0.02665	0.342	0.8510123459603034	0.15686	0.43835	0.27186	N	AEFDBHCIJ	0.142383	0.26480	N	-1.40826445294708	0.02565	0.1134613	-1.46647093834076	0.02624	0.1210252	0.999999996047307	0.74766	0.712529	0.81865	0	0.697927	0.68747	0	0.635938	0.45252	0	0.683535	0.66460	0	.	.	5.1	-4.75	0.03003	0.010000	0.13140	-0.376000	0.09574	-0.637000	0.04462	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5997:0.0:0.4003:0.0	11.665	0.50632	798	0.45050	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1304.98	33	chr16	547082	.	G	C	1304.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.320e-01;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-1.441e+00;SOR=0.756	GT:AD:DP:GQ:PL	0/1:51,53:104:99:1319,0,1375	20	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7188	9454.15	31	chr16	1397277	.	A	*,G	9454.15	.	AC=19,8;AF=0.594,0.250;AN=32;BaseQRankSum=1.91;DP=1633;ExcessHet=0.0731;FS=2.741;InbreedingCoeff=0.3875;MLEAC=24,10;MLEAF=0.750,0.313;MQ=59.56;MQRankSum=-2.830e-01;QD=10.82;ReadPosRankSum=1.63;SOR=0.444	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,60,0:60:99:.:.:2256,194,0,2256,194,2256	1	6	3	5
chr16	1397281	1397281	G	0	exonic	UNKL	.	.	.	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	664.37	55	chr16	1397281	.	G	*,GGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	664.37	.	AC=15,1;AF=0.441,0.029;AN=34;DP=1272;ExcessHet=0.0000;FS=6.118;InbreedingCoeff=0.6818;MLEAC=18,1;MLEAF=0.529,0.029;MQ=59.20;QD=1.28;SOR=0.304	GT:AD:DP:GQ:PL	1/1:0,60,0:60:99:2256,194,0,2256,194,2256	8	6	2	4
chr16	1397281	1397281	-	GGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	exonic	UNKL	.	frameshift insertion	UNKL:NM_001193388:exon6:c.748_749insACAGCGTGAAGCACGGGGGTGGTGGGGGGAGCCAAGTCCTCTGTGTCCCCCTGACACCTCCTCATCCCCAGGTCCACGCCCTGCC:p.P250Hfs*36	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0036	0	0	0	0.0123	0	0	.	.	.	.	0.0072	0.0076	0.0067	0.0078	0.0160	0.0071	0.0070	0.0121	0.0108	0.0013	0.0130	0.0177	4.298e-05	0.0111	0.0160	0.0069	0.0118	0.0097	0.0064	0.0087	0.0069	0.0058	0.0114	0.0059	0.0058	0.0105	0.0101	0.0016	0.0156	0.0080	0.0172	0	0.0022	0.0061	0.0114	0.0040	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	664.37	55	chr16	1397281	.	G	*,GGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	664.37	.	AC=15,1;AF=0.441,0.029;AN=34;DP=1272;ExcessHet=0.0000;FS=6.118;InbreedingCoeff=0.6818;MLEAC=18,1;MLEAF=0.529,0.029;MQ=59.20;QD=1.28;SOR=0.304	GT:AD:DP:GQ:PL	1/1:0,60,0:60:99:2256,194,0,2256,194,2256	8	6	2	4
chr16	1999878	1999878	G	-	exonic	ZNF598	.	frameshift deletion	ZNF598:NM_178167:exon11:c.1671delC:p.G558Afs*8,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.73e-05	0	0.0003	0	0	4.49e-05	0	0	3.23e-05	5	154602	rs748405225	0.0002	0.0002	0.0002	0.0002	0.0020	0.0002	0.0002	0.0016	0.0015	0.0020	0.0010	0.0008	0	2.753e-05	0.0011	9.357e-05	0.0007	1.202e-05	0.0007	0.0007	0.0006	0.0009	0.0018	0.0006	0.0006	0.0015	0.0013	0.0018	0	0.0010	0	0	0	0.0103	0.0002	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1941.94	40	chr16	1999877	.	CG	C	1941.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.420;DP=1082;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.34;ReadPosRankSum=0.520;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,50:91:99:0|1:1999877_CG_C:1956,0,1550:1999877	20	0	1	0
chr16	1999880	1999881	CG	-	exonic	ZNF598	.	frameshift deletion	ZNF598:NM_178167:exon11:c.1668_1669del:p.D556Efs*30,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.973e-05	0	0.0004	0	0	4.768e-05	0	0	3.84e-05	1	26028	rs756231103	0.0002	0.0002	0.0002	0.0002	0.0020	0.0002	0.0002	0.0016	0.0015	0.0020	0.0010	0.0008	0	2.759e-05	0.0011	9.363e-05	0.0007	1.204e-05	0.0007	0.0007	0.0006	0.0009	0.0018	0.0006	0.0006	0.0015	0.0013	0.0018	0	0.0010	0	0	0	0.0104	0.0002	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1941.94	40	chr16	1999879	.	CCG	C	1941.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.700e-02;DP=1084;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.34;ReadPosRankSum=0.376;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,50:91:99:0|1:1999877_CG_C:1956,0,1550:1999877	20	0	1	0
chr16	1999881	1999881	G	0	exonic	ZNF598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	12579.4	40	chr16	1999881	.	G	GTCC,*	12579.4	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=0.849;DP=1110;ExcessHet=0.0001;FS=0.000;InbreedingCoeff=0.7375;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=32.09;ReadPosRankSum=0.776;SOR=0.718	GT:AD:DP:GQ:PL	1/2:0,35,50:85:99:3543,2066,1959,1472,0,1517	15	3	2	0
chr16	2246926	2246926	G	A	exonic	ECI1	.	nonsynonymous SNV	ECI1:NM_001178029:exon3:c.C227T:p.T76M	.	.	429	1039	50	4	0	58	0.0271536	.	.	967234	Complex_I_deficiency	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.1	T	0.962	D	0.344	B	0.000	N	1.000	D	2.01	M	-0.37	T	-0.712	T	0.228	T	0.795	1.171	9.763	3.22	0.761	6.033	9.082	0.425	.	0.0028	0.00658946	0.0083	0.0006	0.0030	0	0.0017	0.0055	0.0089	0.0349	0.007432	1149	154602	rs112729404	0.0053	0.0053	0.0042	0.0064	0.0349	0.0052	0.0051	0.0338	0.0334	0.0010	0.0021	0.0174	7.557e-05	0.0016	0.0282	0.0031	0.0067	0.0349	0.0036	0.0036	0.0032	0.0041	0.0299	0.0034	0.0033	0.0259	0.0244	0.0007	0	0.0026	0.0135	0.0004	0.0012	0.0646	0.0037	0.0033	0.0299	0.072	0.34982	T	0.072	0.48336	T	0.943	0.55554	P	0.344	0.42549	B	0.000000	0.84330	N	0.050039	1	0.81001	D	2.23	0.63091	M	-0.37	0.68892	T	-3.35	0.66436	D	0.467	0.51851	-0.7118	0.59864	T	0.228	0.59372	T	10	0.0073796213	0.00168	T	.	.	.	0.425	0.73299	.	.	0.353125101423	0.34923	0.791210419671449	0.79073	0.23438854129	0.25976	0.49139213562	0.37632	T	0.400195	0.75784	T	-0.173626	0.24687	T	0.00358432	0.70568	D	0.0677868819702007	0.08337	T	0.89861	0.64536	D	0.44832537	0.63935	0.29479742	0.55511	0.44832537	0.63936	0.29479742	0.55510	-7.575	0.58136	D	.	.	0.157	0.46949	B	.;.;.;.	.;.;.;.	3.230173	0.44050	21.9	0.88066581068473471	0.17691	0.95841	0.66383	D	AEFBCI	0.818677	0.73988	D	-0.134269476967074	0.35905	2.068471	-0.218506891995213	0.30872	1.742091	0.605736620092496	0.21763	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.21	3.22	0.36041	6.130000	0.71403	8.347000	0.77005	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.045000	0.14751	0.0817:0.1478:0.7705:0.0	9.082	0.35717	556	0.71678	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	793.98	36	chr16	2246926	.	G	A	793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.63;DP=832;ExcessHet=0.0000;FS=1.835;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.45;ReadPosRankSum=0.655;SOR=0.792	GT:AD:DP:GQ:PL	0/1:51,33:84:99:808,0,1157	20	0	1	0
chr16	3657256	3657256	C	T	exonic	DNASE1	.	nonsynonymous SNV	DNASE1:NM_005223:exon7:c.C619T:p.R207C	.	.	420	1096	6	0	0	6	0.00272975	.	.	247118	not_provided|not_specified|Systemic_lupus_erythematosus	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0002725,MONDO:MONDO:0007915,MedGen:C0024141,OMIM:152700,Orphanet:536	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.47	M	1.15	T	0.826	D	0.791	D	0.922	4.417	23.4	5.07	2.364	4.555	17.470	0.598	.	0.0011	0.00359425	0.0013	0.0017	0.0011	0.0007	0.0002	0.0007	0.0111	0.0034	0.0012354	191	154602	rs148373909	0.0013	0.0013	0.0011	0.0014	0.0034	0.0012	0.0012	0.0031	0.0029	0.0029	0.0011	3.826e-05	0.0006	0.0002	0.0028	0.0012	0.0014	0.0034	0.0016	0.0016	0.0017	0.0015	0.0050	0.0015	0.0014	0.0034	0.0029	0.0023	0	0.0022	0	0.0002	0	0.0068	0.0012	0.0028	0.0050	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.865	0.95877	H	-1.56	0.81815	D	-7.9	0.96191	D	0.586	0.60664	0.826	0.94733	D	0.791	0.92931	D	10	0.023278147	0.00604	T	.	.	.	0.598	0.84074	.	.	0.891967515596	0.89089	0.9168392154333195	0.91658	0.0304920833542	0.03150	0.562246441841	0.47584	T	0.843099	0.96358	D	0.105533	0.64884	D	0.377025	0.91322	D	0.204867696822105	0.20682	T	0.933907	0.79612	D	0.89757496	0.91167	0.7094225	0.82862	0.89757496	0.91169	0.7094225	0.82863	-11.092	0.80160	D	.	.	0.271	0.51262	B	.;.;.;.	.;.;.;.	5.215172	0.87515	29.3	0.99934680761057881	0.99535	0.90920	0.52512	D	AEFDGBHCI	0.697500	0.65549	D	0.794916553693268	0.85786	8.681413	0.690688715814908	0.81669	7.581621	0.999999999999995	0.74766	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	5.07	5.07	0.68106	4.414000	0.59555	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.439000	0.27649	0.0:1.0:0.0:0.0	17.470	0.87538	600	0.68026	Endonuclease/exonuclease/phosphatase;Endonuclease/exonuclease/phosphatase;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3050.11	36	chr16	3657256	.	C	T	3050.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.59;DP=917;ExcessHet=0.1072;FS=0.491;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=0.594;SOR=0.762	GT:AD:DP:GQ:PL	0/1:61,59:120:99:1486,0,1398	19	0	2	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	0/2:12,0,5,0,0:17:99:166,202,687,0,485,470,202,687,485,687,202,687,485,687,687	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	0/2:12,0,5,0,0:17:99:166,202,687,0,485,470,202,687,485,687,202,687,485,687,687	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	0/2:12,0,5,0,0:17:99:166,202,687,0,485,470,202,687,485,687,202,687,485,687,687	7	0	1	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	95489.43	192	chr16	11927475	.	G	A,*	95489.43	.	AC=30,4;AF=0.714,0.095;AN=42;BaseQRankSum=1.26;DP=4093;ExcessHet=0.0303;FS=0.000;InbreedingCoeff=0.3824;MLEAC=30,4;MLEAF=0.714,0.095;MQ=59.99;MQRankSum=0.00;QD=24.53;ReadPosRankSum=0.415;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,222,0:223:99:.:.:6944,643,0,6947,666,6970	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	0/1:113,58:171:99:191,0,1971	1	0	20	0
chr16	14667708	14667711	CCCC	-	exonic	BFAR	.	frameshift deletion	BFAR:NM_001330500:exon6:c.859_862del:p.P287Sfs*45	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1565.86	33	chr16	14667707	.	GCCCC	G	1565.86	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-5.750e-01;DP=1119;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2353;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=2.47;ReadPosRankSum=0.627;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,17:82:99:0|1:14667707_GCCCC_G:265,0,2438:14667707	13	0	8	0
chr16	14667711	14667711	-	GGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insGGGG:p.L288Rfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1543.44	38	chr16	14667711	.	C	CGGGG,CGGGA,CTGGG	1543.44	.	AC=6,1,1;AF=0.150,0.025,0.025;AN=40;BaseQRankSum=-2.910e-01;DP=1215;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2571;MLEAC=6,1,1;MLEAF=0.150,0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.612;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,17,0,0:82:99:0|1:14667707_GCCCC_G:265,0,2438,459,2487,2947,459,2487,2947,2947:14667707	12	0	6	1
chr16	14667711	14667711	-	GGGA	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insGGGA:p.L288Rfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1543.44	38	chr16	14667711	.	C	CGGGG,CGGGA,CTGGG	1543.44	.	AC=6,1,1;AF=0.150,0.025,0.025;AN=40;BaseQRankSum=-2.910e-01;DP=1215;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2571;MLEAC=6,1,1;MLEAF=0.150,0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.612;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,17,0,0:82:99:0|1:14667707_GCCCC_G:265,0,2438,459,2487,2947,459,2487,2947,2947:14667707	12	0	6	1
chr16	14667711	14667711	-	TGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insTGGG:p.I289Gfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1543.44	38	chr16	14667711	.	C	CGGGG,CGGGA,CTGGG	1543.44	.	AC=6,1,1;AF=0.150,0.025,0.025;AN=40;BaseQRankSum=-2.910e-01;DP=1215;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2571;MLEAC=6,1,1;MLEAF=0.150,0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.612;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,17,0,0:82:99:0|1:14667707_GCCCC_G:265,0,2438,459,2487,2947,459,2487,2947,2947:14667707	12	0	6	1
chr16	16165886	16165886	G	A	exonic	ABCC6	.	nonsynonymous SNV	ABCC6:NM_001171:exon23:c.C3043T:p.R1015W	Arterial calcification, generalized, of infancy, 2, Autosomal recessive;Pseudoxanthoma elasticum, Autosomal recessive;Pseudoxanthoma elasticum, forme fruste, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1474552	not_provided|Inborn_genetic_diseases|Autosomal_recessive_inherited_pseudoxanthoma_elasticum|Pseudoxanthoma_elasticum,_forme_fruste|Arterial_calcification,_generalized,_of_infancy,_2	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009925,MedGen:C1275116,OMIM:264800,Orphanet:758|MONDO:MONDO:0008333,MedGen:C1867450,OMIM:177850,Orphanet:758|MONDO:MONDO:0013768,MedGen:C3276161,OMIM:614473,Orphanet:51608	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.91	D	0.555	U	1.000	N	2.405	M	-2.9	D	0.190	D	0.821	D	0.519	2.579	14.58	4.46	2.529	1.402	6.830	0.435	0.121187376991	.	.	1.687e-05	0	8.731e-05	0	0	1.546e-05	0	0	1.29e-05	2	154602	rs756768329	2.259e-05	2.257e-05	2.588e-05	1.926e-05	5.974e-05	1.611e-05	1.417e-05	1.83e-05	1.582e-05	5.974e-05	0	0	0	0	0	2.608e-05	3.312e-05	0	3.286e-05	3.284e-05	3.855e-05	2.691e-05	7.242e-05	1.261e-05	7.98e-06	1.92e-05	1.032e-05	7.242e-05	0	0	0	0	0	0	2.94e-05	0	0	0.184	0.21634	T	0.186	0.28860	T	1.0	0.90584	D	0.91	0.64641	D	0.555272	0.11393	U	0.724655	1	0.08975	N	2.7	0.79018	M	-2.9	0.91643	D	-1.66	0.39692	N	0.551	0.57690	0.190	0.85737	D	0.821	0.93966	D	10	0.40429658	0.55784	T	0.121187	0.80189	D	0.435	0.74022	.	.	0.936821167959	0.93617	0.5233772261187059	0.52261	0.344285718814	0.36357	0.355102151632	0.18671	T	0.562859	0.85396	D	-0.0670741	0.41793	T	-0.0974552	0.63595	T	0.377145111560822	0.28073	T	0.909809	0.80662	D	0.18410005	0.39709	0.18271753	0.41217	0.18410005	0.39709	0.18271753	0.41216	-8.971	0.67510	D	0.3392493008071034	0.43707	0.115	0.23041	B	.;.	.;.	4.336571	0.66495	25.0	0.99873846034026936	0.95076	0.14197	0.18274	N	AEFGBI	0.486758	0.52579	N	0.376410334887468	0.60146	4.20044	0.286650415836542	0.54760	3.640009	0.00700400823693657	0.11362	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.42	4.46	0.53567	1.654000	0.36950	5.096000	0.47395	0.582000	0.30178	0.548000	0.27330	0.989000	0.31174	0.752000	0.35857	0.1393:0.1666:0.694:0.0	6.830	0.23090	895	0.25842	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2639.98	34	chr16	16165886	.	G	A	2639.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.60;DP=904;ExcessHet=0.0000;FS=1.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=1.82;SOR=0.835	GT:AD:DP:GQ:PL	0/1:107,98:205:99:2654,0,2610	20	0	1	0
chr16	20346184	20346184	C	T	exonic	UMOD	.	nonsynonymous SNV	UMOD:NM_001008389:exon5:c.G1124A:p.R375Q	Glomerulocystic kidney disease with hyperuricemia and isosthenuria;Hyperuricemic nephropathy, familial juvenile 1, Autosomal dominant;Medullary cystic kidney disease 2	.	0	1506	16	0	0	16	0.00528402	.	.	703545	Familial_juvenile_hyperuricemic_nephropathy_type_1|not_provided	MONDO:MONDO:0008073,MedGen:C4551496,OMIM:162000,Orphanet:209886,Orphanet:34149,Orphanet:88950|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.22	T	0.393	B	0.05	B	0.052	N	1.000	N	1.245	L	-1.59	D	-0.835	T	0.238	T	0.133	0.478	6.595	0.019	0.111	0.452	7.712	0.097	0.0683601995499	0.0005	0.00139776	0.0008	0	0.0003	0	0	0.0003	0.0066	0.0036	0.0006727	104	154602	rs151061376	0.0005	0.0005	0.0004	0.0006	0.0056	0.0004	0.0004	0.0040	0.0035	0.0001	0.0010	0.0013	0	0	0.0056	0.0003	0.0006	0.0029	0.0003	0.0003	0.0003	0.0003	0.0023	0.0002	0.0002	0.0013	0.0010	4.808e-05	0	0.0005	0.0026	0	0	0.0034	0.0002	0.0014	0.0023	0.253	0.20381	T	0.292	0.24264	T	0.104	0.25941	B	0.036	0.22909	B	0.051904	0.22940	N	0.309092	0.99997	0.18612	N	0.625	0.15840	N	-1.59	0.82076	D	-0.35	0.12847	N	0.172	0.24260	-0.8347	0.52996	T	0.238	0.60559	T	10	0.010872722	0.00240	T	0.06836	0.70429	D	0.097	0.27909	.	.	0.372993862945	0.36913	0.42573792019316464	0.42490	0.145579570331	0.16448	0.268536508083	0.05950	T	.	.	.	-0.440334	0.01288	T	-0.408336	0.32417	T	0.0150915128853855	0.00327	T	0.644935	0.25655	T	0.07107321	0.15706	0.06944995	0.14635	0.07107321	0.15706	0.06944995	0.14634	-2.481	0.05653	T	0.13877010277427015	0.15383	0.088	0.11845	B	.;.;.;.	.;.;.;.	2.229180	0.28453	17.80	0.94449044805868143	0.24878	0.04307	0.09857	N	AEFBI	0.078467	0.15833	N	-0.66869644954916	0.16917	0.8661519	-0.680521341231634	0.17448	0.9278165	1.16367304598893E-5	0.02871	0.569682	0.32691	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	4.85	0.019	0.13439	0.471000	0.21811	0.819000	0.21831	0.549000	0.26987	0.984000	0.35821	0.017000	0.20586	0.122000	0.19250	0.0:0.5681:0.0:0.4319	7.712	0.27847	840	0.37365	.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;Zona pellucida domain|Zona pellucida domain|Zona pellucida 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	1876.98	33	chr16	20346184	.	C	T	1876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.159;DP=853;ExcessHet=0.0000;FS=2.041;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=0.217;SOR=0.520	GT:AD:DP:GQ:PL	0/1:72,82:154:99:1891,0,1592	20	0	1	0
chr16	20349827	20349827	G	A	exonic	UMOD	.	nonsynonymous SNV	UMOD:NM_001278614:exon3:c.C131T:p.P44L,	Glomerulocystic kidney disease with hyperuricemia and isosthenuria;Hyperuricemic nephropathy, familial juvenile 1, Autosomal dominant;Medullary cystic kidney disease 2	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.0	B	0.0	B	.	.	1.000	N	.	.	-1.46	T	-0.931	T	0.092	T	0.119	0.632	7.398	0.656	0.100	-0.128	4.735	0.120	.	.	0.00698882	0.0013	0.0011	0	0.0391	0	0.0002	0	0	0.0005175	80	154602	rs117607957	0.0007	0.0006	0.0007	0.0006	0.0208	0.0006	0.0006	0.0195	0.0190	3.167e-05	5.607e-05	0	0.0208	0	0.0004	4.357e-05	0.0018	0.0002	0.0011	0.0011	0.0010	0.0011	0.0285	0.0009	0.0009	0.0247	0.0233	7.255e-05	0	6.569e-05	0	0.0285	0	0	2.944e-05	0.0019	0.0006	0.122	0.27663	T	0.597	0.46182	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.46	0.80983	T	0.29	0.04161	N	0.096	0.07673	-0.9310	0.43992	T	0.092	0.35201	T	8	0.0043028593	0.00087	T	.	.	.	0.120	0.33359	.	.	0.166414681773	0.16258	0.8716339494888922	0.87129	.	.	.	.	.	0.015445	0.12953	T	-0.497986	0.00587	T	-0.465102	0.26046	T	0.00349271048103764	0.00037	T	0.49875	0.16021	T	.	.	.	.	.	.	.	.	-3.058	0.10820	T	.	.	0.099	0.58733	B	.;.;.	.;.;.	0.363606	0.07360	3.982	0.55140006494829075	0.05281	0.00469	0.02250	N	AEFDBHCI	0.021002	0.00889	N	-1.09689996765459	0.06700	0.3091719	-1.18203068929603	0.06210	0.298187	0.0106054159611228	0.12052	0.525926	0.21836	0	0.615948	0.52940	0	0.596394	0.31383	0	0.584449	0.35598	0	.	.	3.15	0.656	0.17016	-0.135000	0.10399	1.232000	0.25050	-0.118000	0.14412	0.000000	0.06391	0.005000	0.19230	0.001000	0.02609	0.6089:0.0:0.3911:0.0	4.735	0.12360	830	0.39242	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	898.98	38	chr16	20349827	.	G	A	898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.012;DP=835;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=0.703;SOR=0.809	GT:AD:DP:GQ:PL	0/1:37,37:74:99:913,0,923	20	0	1	0
chr16	24939403	24939403	G	A	exonic	ARHGAP17	.	nonsynonymous SNV	ARHGAP17:NM_001006634:exon17:c.C1685T:p.A562V,	.	.	432	1083	6	1	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.038	B	0.007	B	0.219	N	1.000	D	1.79	L	2.02	T	-1.105	T	0.034	T	0.08	1.334	10.38	4.34	1.389	3.736	7.876	0.051	.	0.0002	0.00778754	0.0059	0.0009	0.0006	0.0127	0	5.194e-05	0.0100	0.0353	0.0044954	695	154602	rs140774879	0.0021	0.0021	0.0013	0.0029	0.0280	0.0020	0.0020	0.0270	0.0267	0.0004	0.0001	0	0.0100	1.912e-05	0.0012	7.376e-05	0.0028	0.0280	0.0013	0.0013	0.0008	0.0018	0.0272	0.0012	0.0011	0.0234	0.0220	0.0005	0	0.0002	0	0.0085	0	0	0	0	0.0272	0.18	0.21968	T	0.268	0.22494	T	0.002	0.09854	B	0.001	0.04355	B	0.218691	0.16190	N	0.511596	1	0.81001	D	1.28	0.32218	L	2.02	0.21119	T	-0.89	0.24026	N	0.152	0.15609	-1.1054	0.03497	T	0.034	0.14813	T	10	0.0038097203	0.00071	T	.	.	.	0.051	0.14325	.	.	0.446291797366	0.44249	0.16689986995461314	0.16609	0.0474294838818	0.05171	0.513967037201	0.40778	T	0.021294	0.16605	T	-0.605132	0.00136	T	-0.620377	0.11155	T	0.00451468197758122	0.00048	T	0.676632	0.28519	T	0.03192977	0.03122	0.05096256	0.08107	0.03192977	0.03121	0.05096256	0.08106	-4.215	0.26968	T	.	.	0.082	0.08899	B	.	.	1.937727	0.24609	16.46	0.98373488109337481	0.40770	0.86306	0.45560	D	AEFBCI	0.211311	0.33711	N	-0.164969516175793	0.34600	1.976877	-0.0495382187399586	0.37510	2.19724	0.0452964690431503	0.14646	0.706548	0.73137	0	0.379588	0.06130	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.32	4.34	0.51267	2.758000	0.47245	1.519000	0.27078	0.676000	0.76740	0.999000	0.42656	0.602000	0.25724	0.409000	0.26983	0.1186:0.0:0.8814:0.0	7.876	0.28755	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	1233.98	33	chr16	24939403	.	G	A	1233.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.35;DP=782;ExcessHet=0.0000;FS=0.852;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.23;ReadPosRankSum=0.284;SOR=0.527	GT:AD:DP:GQ:PL	0/1:38,43:81:99:1248,0,918	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	0/1:73,13,0:86:99:.:.:166,0,1981,385,2020,2405	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|1:177,47,0:224:99:0|1:29485610_ACACACTC_A:615,0,6399,1150,6522,7671:29485610	7	0	12	0
chr16	30108383	30108383	C	G	exonic	GDPD3	.	nonsynonymous SNV	GDPD3:NM_024307:exon8:c.G757C:p.V253L,	.	.	422	1098	2	0	0	2	0.000909918	.	.	2430562	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.66	T	0.0	B	0.001	B	0.461	N	1.000	N	-0.95	N	1.53	T	-1.014	T	0.014	T	0.287	0.564	7.049	-10.6	-1.091	-0.514	1.758	0.077	0.00794021486212	0.0003	.	0.0001	0	0	0	0	0.0002	0	0.0001	0.0001035	16	154602	rs146701553	0.0001	0.0001	9.12e-05	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	5.974e-05	8.944e-05	0	0	1.872e-05	0.0007	0.0001	6.623e-05	0.0005	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	7.226e-05	0	0.0002	0	0	0	0.0034	0.0003	0.0005	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.461422	0.12387	N	0.744294	1	0.08975	N	0.06	0.08197	N	1.53	0.30401	T	1.17	0.01121	N	0.118	0.10769	-1.0138	0.25720	T	0.014	0.05369	T	10	0.021596164	0.00520	T	0.00794	0.21059	T	0.077	0.22490	.	.	0.0986583533028	0.09354	0.6590387575574405	0.65840	0.204291782163	0.22853	0.4091116786	0.26333	T	0.005143	0.04581	T	-0.480518	0.00734	T	-0.627684	0.10591	T	0.0270888454768486	0.01557	T	0.60234	0.22547	T	0.042083107	0.06318	0.028351868	0.01064	0.042083107	0.06317	0.028351868	0.01063	-3.159	0.11986	T	.	.	0.105	0.19194	B	.	.	-0.483162	0.01921	0.162	0.77092938586996995	0.11733	0.03778	0.09097	N	AEFBCI	0.052866	0.09477	N	-1.77986168032505	0.00596	0.02569335	-1.82356104565144	0.00687	0.03056067	0.999999908525572	0.74766	0.660377	0.49826	0	0.670034	0.63936	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	5.29	-10.6	0.00212	-0.446000	0.06910	-0.271000	0.10347	-0.195000	0.09104	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.1916:0.1519:0.3776:0.279	1.758	0.02806	131	0.94738	Glycerophosphodiester phosphodiesterase domain|Glycerophosphodiester phosphodiesterase 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	725.98	35	chr16	30108383	.	C	G	725.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.190e-01;DP=841;ExcessHet=0.0000;FS=1.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.95;ReadPosRankSum=1.15;SOR=0.914	GT:AD:DP:GQ:PL	0/1:84,38:122:99:740,0,2205	20	0	1	0
chr16	31078799	31078799	C	G	exonic	ZNF646	.	nonsynonymous SNV	ZNF646:NM_014699:exon2:c.C2475G:p.D825E,	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.347	B	0.12	B	.	.	0.698	N	-0.185	N	1.12	T	-1.028	T	0.037	T	0.375	2.466	14.20	2.0	1.222	-0.092	1.824	0.056	0.00810722664768	0.0005	.	0.0006	9.615e-05	0	0	0	0.0012	0	0	0.0005886	91	154602	rs201724134	0.0005	0.0005	0.0005	0.0005	0.0019	0.0005	0.0005	0.0011	0.0008	0	0.0002	0.0087	0	1.88e-05	0.0019	0.0004	0.0009	3.478e-05	0.0004	0.0004	0.0005	0.0003	0.0005	0.0004	0.0003	0.0004	0.0003	9.616e-05	0	0.0002	0.0075	0	0	0.0034	0.0005	0	0	0.63	0.05262	T	0.86	0.03409	T	0.347	0.33585	B	0.12	0.32230	B	.	.	.	.	0.697724	0.30132	N	-0.215	0.03996	N	1.12	0.38718	T	0.45	0.03191	N	0.422	0.46180	-1.0282	0.21038	T	0.037	0.15986	T	9	0.007028818	0.00160	T	0.008107	0.21495	T	0.056	0.15993	0.269	0.21735	0.315609569513	0.31162	0.08840826479099302	0.08773	0.720697713483	0.62191	0.535601854324	0.43824	T	0.001295	0.00775	T	-0.421995	0.01661	T	-0.485362	0.23878	T	0.0250111964375122	0.01274	T	0.589941	0.21689	T	0.047258515	0.08048	0.048973244	0.07386	0.047258515	0.08048	0.048973244	0.07385	-2.383	0.05029	T	.	.	0.325	0.65933	B	.;.	.;.	0.834490	0.12059	8.615	0.99442568861134273	0.64870	0.30128	0.24002	N	AEFDBCI	0.046896	0.07838	N	-0.731723346408216	0.15133	0.7600686	-0.588835717459221	0.19783	1.063003	0.999834270481989	0.43792	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.25	2.0	0.25495	-0.736000	0.04987	.	.	-0.193000	0.09282	0.000000	0.06391	0.001000	0.17328	0.989000	0.64315	0.2223:0.4762:0.1307:0.1708	1.824	0.02928	41	0.97903	.;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	1827.98	55	chr16	31078799	.	C	G	1827.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.260;DP=1063;ExcessHet=0.0000;FS=1.256;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=-2.880e-01;SOR=0.591	GT:AD:DP:GQ:PL	0/1:86,69:155:99:1842,0,2420	20	0	1	0
chr16	31078861	31078861	G	T	exonic	ZNF646	.	nonsynonymous SNV	ZNF646:NM_014699:exon2:c.G2537T:p.G846V,	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.975	D	.	.	1.000	D	1.085	L	0.99	T	-0.862	T	0.170	T	0.554	3.589	18.28	4.14	1.151	2.188	12.486	0.246	0.0276130091604	0.0005	.	0.0006	9.623e-05	0	0	0	0.0012	0	0	0.0005821	90	154602	rs200280714	0.0005	0.0005	0.0005	0.0005	0.0019	0.0005	0.0005	0.0011	0.0008	0	0.0002	0.0087	0	1.881e-05	0.0019	0.0004	0.0009	3.478e-05	0.0004	0.0004	0.0005	0.0003	0.0005	0.0004	0.0003	0.0004	0.0003	9.616e-05	0	0.0002	0.0075	0	0	0.0034	0.0005	0	0	0.003	0.68238	D	0.002	0.83351	D	1.0	0.90584	D	0.975	0.73362	D	.	.	.	.	1	0.81001	D	0.865	0.21413	L	0.99	0.41750	T	-3.04	0.62863	D	0.441	0.47949	-0.8619	0.51126	T	0.170	0.51069	T	9	0.009357244	0.00211	T	0.027613	0.50399	D	0.246	0.55340	.	.	0.629112818682	0.62608	0.3320225741407019	0.33115	0.757533882034	0.64076	0.626607656479	0.56663	T	0.052004	0.29039	T	-0.305722	0.08131	T	-0.318344	0.42756	T	0.0838807364977643	0.10476	T	0.733627	0.34942	T	0.35904953	0.57763	0.42348433	0.66217	0.35904953	0.57763	0.42348433	0.66217	-6.366	0.49244	T	.	.	0.593	0.73313	P	.;.	.;.	4.101628	0.61165	24.3	0.9974127322937193	0.83555	0.95002	0.63082	D	AEFDBCI	0.421434	0.48785	N	0.388789474771594	0.60815	4.274611	0.376796861281908	0.60138	4.198123	0.999999502269613	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.1	4.14	0.47821	2.060000	0.41020	.	.	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.995000	0.73285	0.0827:0.0:0.9173:0.0	12.486	0.55216	41	0.97903	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1751.98	55	chr16	31078861	.	G	T	1751.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.336;DP=1058;ExcessHet=0.0000;FS=0.612;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=-3.610e-01;SOR=0.613	GT:AD:DP:GQ:PL	0/1:82,67:149:99:1766,0,2200	20	0	1	0
chr16	31808026	31808026	A	G	exonic	VN1R3	.	unknown	UNKNOWN,	.	.	3	221	2	0	0	2	0.0045045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs943666033	0	6.361e-06	0	0	.	0	0	.	.	0	.	.	0	0	.	0	0	.	7.221e-05	7.217e-05	8.994e-05	5.369e-05	0.0003	3.968e-05	3.125e-05	0.0001	8.279e-05	2.405e-05	0	0.0003	0	0	0	0.0034	4.411e-05	0.0005	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	875.98	34	chr16	31808026	.	A	G	875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.047e+00;DP=801;ExcessHet=0.0000;FS=6.883;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.03;ReadPosRankSum=0.630;SOR=1.408	GT:AD:DP:GQ:PL	0/1:57,40:97:99:890,0,1508	20	0	1	0
chr16	47515581	47515581	A	G	exonic	PHKB	.	nonsynonymous SNV	PHKB:NM_000293:exon6:c.A574G:p.I192V	Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, Autosomal recessive	.	10	1508	4	0	0	4	0.0013245	.	.	505400	not_provided|not_specified|Glycogen_storage_disease_IXb|PHKB-related_disorder	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009868,MedGen:C0543514,OMIM:261750,Orphanet:79240|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.2	T	0.998	D	0.994	D	0.000	D	1.000	D	1.15	L	-2.62	D	0.536	D	0.759	D	0.622	3.566	18.18	5.73	2.308	7.318	15.293	0.625	0.0704533838077	0.0014	0.000399361	0.0018	9.664e-05	0.0017	0	0.0018	0.0026	0.0055	0.0002	0.0017852	276	154602	rs117218785	0.0014	0.0016	0.0014	0.0014	0.0059	0.0014	0.0013	0.0043	0.0037	0.0002	0.0011	0.0036	0	0.0012	0.0059	0.0016	0.0012	0.0003	0.0016	0.0016	0.0016	0.0016	0.0027	0.0015	0.0014	0.0024	0.0023	0.0003	0	0.0004	0.0026	0	0.0029	0	0.0027	0.0009	0.0010	0.264	0.16358	T	0.136	0.34009	T	0.997	0.70673	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.06	0.56677	M	-2.62	0.90017	D	-0.6	0.18042	N	0.193	0.24634	0.536	0.91043	D	0.759	0.91777	D	10	0.01855874	0.00405	T	0.070453	0.71006	D	0.625	0.85511	.	.	0.851771965924	0.85034	0.5208675652560436	0.52009	0.179260557738	0.20168	0.719315469265	0.69947	T	0.233468	0.60028	T	-0.151202	0.28125	T	0.0088769	0.70909	D	0.0477018501223997	0.05090	T	0.940306	0.77472	D	0.10781246	0.25493	0.12019581	0.29007	0.1295378	0.30251	0.115914114	0.27982	-6.91	0.53373	T	.	.	0.164	0.36113	B	.;.;.;.	.;.;.;.	3.206373	0.43630	21.8	0.99802853209053022	0.88728	0.96908	0.71597	D	AEFBI	0.816592	0.73829	D	0.558075002781019	0.70576	5.521715	0.619875092574448	0.76385	6.48114	0.999929104097675	0.46280	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.73	5.73	0.89730	5.994000	0.70296	6.820000	0.56668	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.293	0.73585	166	0.93555	GH15-like domain;.;.;GH15-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2029.98	33	chr16	47515581	.	A	G	2029.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.000e-01;DP=813;ExcessHet=0.0000;FS=1.483;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.35;ReadPosRankSum=-3.610e-01;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,54:117:99:0|1:47515562_G_T:2044,0,2430:47515562	20	0	1	0
chr16	49822678	49822678	T	G	exonic	ZNF423	.	nonsynonymous SNV	ZNF423:NM_015069:exon1:c.A8C:p.K3T,	Joubert syndrome 19, Autosomal recessive, Autosomal dominant;Nephronophthisis 14, Autosomal recessive, Autosomal dominant	.	14	1504	2	2	0	6	0.00199071	.	.	1049666	Nephronophthisis_14	MONDO:MONDO:0013916,MedGen:C3539071,OMIM:614844,Orphanet:2318	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.013	U	1.000	N	0	N	3.03	T	-0.982	T	0.013	T	0.218	-0.270	2.705	0.955	0.220	-0.709	4.978	0.032	0.00358090673679	.	.	4.133e-05	0	0.0003	0	0	1.501e-05	0	0	3.23e-05	5	154602	rs764916396	4.315e-05	4.309e-05	3.816e-05	4.819e-05	0.0005	3.447e-05	3.133e-05	0.0001	7.55e-05	0	0.0001	0	0	0	0.0005	3.69e-05	9.947e-05	8.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	0.013397	0.01363	U	4.046690	1	0.08975	N	0	0.06538	N	3.03	0.08898	T	0.17	0.05125	N	0.179	0.21188	-0.9815	0.34655	T	0.013	0.05081	T	9	0.04671672	0.03897	T	0.003581	0.08185	T	0.032	0.07718	0.437	0.48993	0.043077524339	0.03247	0.04602069020810319	0.04546	0.450419126629	0.44807	0.382351279259	0.22589	T	0.062335	0.31891	T	-0.484362	0.00698	T	-0.648816	0.09037	T	0.0346768452690301	0.02752	T	0.385361	0.09439	T	0.090220764	0.21104	0.067002654	0.13802	0.090220764	0.21103	0.067002654	0.13801	-2.959	0.09746	T	.	.	0.170	0.39081	B	.;.	.;.	0.182309	0.05697	2.143	0.39270299962615796	0.02699	0.05061	0.10852	N	AEFBI	0.047036	0.07877	N	-1.17000523668472	0.05458	0.2488973	-1.21632044500123	0.05647	0.2696501	0.989796462686258	0.31938	0.516011	0.20929	0	0.59043	0.45803	0	0.527494	0.11647	0	0.586402	0.36253	0	.	.	2.16	0.955	0.18725	-0.017000	0.12529	-1.362000	0.05620	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.3166:0.6834	4.978	0.13498	892	0.26670	.;.	.	.	.	.	.	Uncertain significance	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	1063.98	33	chr16	49822678	.	T	G	1063.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.340e-01;DP=780;ExcessHet=0.0000;FS=2.866;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-7.400e-02;SOR=0.732	GT:AD:DP:GQ:PL	0/1:40,46:86:99:1078,0,962	20	0	1	0
chr16	51141185	51141185	G	A	exonic	SALL1	.	nonsynonymous SNV	SALL1:NM_001127892:exon2:c.C746T:p.A249V	Townes-Brocks branchiootorenal-like syndrome, Autosomal dominant;Townes-Brocks syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1293227	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.066	B	0.015	B	0.000	D	1.000	D	1.39	L	3.23	T	-1.038	T	0.023	T	0.251	2.092	12.95	4.39	2.252	9.546	17.139	0.141	0.00663113850127	.	.	2.477e-05	0	0	0	0	3.003e-05	0	6.056e-05	1.94e-05	3	154602	rs779513054	8.893e-06	8.893e-06	8.167e-06	9.626e-06	1.159e-05	4.96e-06	3.82e-06	5.75e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.975	0.04802	T	0.796	0.21078	T	0.066	0.23586	B	0.015	0.17295	B	0.000270	0.46590	D	0.225081	0.999946	0.81001	D	1.59	0.40313	L	3.23	0.07236	T	-1.11	0.28703	N	0.31	0.34981	-1.0380	0.17924	T	0.023	0.09878	T	10	0.16335917	0.30591	T	0.006631	0.17501	T	0.141	0.37795	0.31	0.28289	0.218628672733	0.21463	0.5729962325479336	0.57227	0.202601885681	0.22681	0.313057541847	0.12369	T	0.284877	0.65766	T	-0.183088	0.23279	T	-0.500769	0.22269	T	0.51873368024826	0.33318	D	0.726827	0.34112	T	0.053260267	0.10051	0.07369578	0.16044	0.053260267	0.10051	0.07369578	0.16044	-5.97	0.46322	T	0.17938363890043058	0.23037	0.096	0.17317	B	.;.;.	.;.;.	3.450800	0.48049	22.6	0.98107873308340343	0.38326	0.96953	0.71848	D	AEFBCI	0.876849	0.80111	D	-0.0895151685501903	0.37850	2.208204	0.0261917407478912	0.40934	2.451011	0.999999990424388	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.562822	0.20929	0	.	.	4.39	4.39	0.52211	9.663000	0.97879	8.704000	0.78116	-0.167000	0.11441	1.000000	0.71638	1.000000	0.68203	0.308000	0.24690	0.0:0.0:1.0:0.0	17.139	0.86626	887	0.27948	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2559.98	73	chr16	51141185	.	G	A	2559.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.511;DP=1250;ExcessHet=0.0000;FS=3.212;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=1.10;SOR=0.798	GT:AD:DP:GQ:PL	0/1:98,100:198:99:2574,0,2395	20	0	1	0
chr16	54933578	54933578	C	T	exonic	IRX5	.	nonsynonymous SNV	IRX5:NM_001252197:exon3:c.C1154T:p.P385L	Hamamy syndrome, Autosomal recessive	.	0	1513	9	0	0	9	0.0029654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.906	P	0.42	B	0.000	D	1.000	D	1.04	L	0.6	T	-0.900	T	0.137	T	0.326	3.419	17.56	4.45	2.292	3.859	16.241	0.064	0.176316878059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.373e-06	1.368e-06	1.365e-06	1.381e-06	1.168e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.012e-07	0	1.168e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.032	0.56192	D	0.906	0.49993	P	0.42	0.45080	B	0.000123	0.49741	D	0.136380	0.999999	0.81001	D	0.895	0.22405	L	0.6	0.53731	T	-2.63	0.83830	D	0.386	0.46742	-0.9005	0.47942	T	0.137	0.45375	T	10	0.34744927	0.51679	T	0.176317	0.85212	D	0.064	0.18567	0.298	0.26362	0.690070301869	0.68741	0.394449344943564	0.39359	.	.	0.811197221279	0.83676	D	0.211403	0.57216	T	-0.0877665	0.38443	T	-0.363847	0.37607	T	0.963877558708191	0.66788	D	0.872513	0.57956	D	0.23063251	0.45822	0.29571152	0.55603	0.23063251	0.45822	0.29571152	0.55602	-4.394	0.29475	T	0.3410624040861192	0.43879	0.124	0.55549	B	.;.;.	.;.;.	4.364698	0.67148	25.1	0.99483516837761399	0.67014	0.95666	0.65642	D	AEFDBHCI	0.592346	0.58809	D	0.304777220845893	0.56394	3.803975	0.354962059900263	0.58806	4.053657	0.999999999999747	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.45	4.45	0.53365	3.506000	0.53121	7.609000	0.61840	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	16.241	0.82232	873	0.30802	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1513.98	35	chr16	54933578	.	C	T	1513.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=863;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=0.252;SOR=0.702	GT:AD:DP:GQ:PL	0/1:79,61:140:99:1528,0,2099	20	0	1	0
chr16	57382560	57382560	C	T	exonic	CX3CL1	.	nonsynonymous SNV	CX3CL1:NM_001304392:exon2:c.C467T:p.P156L	.	.	421	1096	5	0	0	5	0.00227583	.	.	714993	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.088	B	0.005	B	0.000	N	1.000	N	0	N	3.7	T	-0.968	T	0.007	T	0.094	0.839	8.387	1.29	0.304	0.269	2.536	0.091	0.00439106112767	0.0036	0.00139776	0.0030	0.0004	0.0029	0.0001	0.0024	0.0046	0.0045	0	0.0029819	461	154602	rs137886321	0.0033	0.0033	0.0033	0.0032	0.0040	0.0032	0.0032	0.0037	0.0036	0.0004	0.0022	0.0038	0	0.0031	0.0040	0.0038	0.0029	6.956e-05	0.0030	0.0030	0.0029	0.0031	0.0047	0.0027	0.0027	0.0043	0.0041	0.0005	0.0011	0.0038	0.0043	0	0.0030	0	0.0047	0.0033	0	0.059	0.37966	T	0.104	0.38596	T	0.088	0.25022	B	0.005	0.11217	B	0.000061	0.00414	N	21.798200	1	0.08975	N	0	0.06538	N	3.7	0.13434	T	-1.62	0.38924	N	0.072	0.05414	-0.9683	0.37551	T	0.007	0.02244	T	10	0.0042164624	0.00084	T	0.004391	0.10718	T	0.091	0.26358	.	.	0.043077524339	0.03247	0.10863226829346284	0.10792	0.310891961663	0.33396	0.245358467102	0.03295	T	0.274866	0.64738	T	-0.676851	0.00050	T	-0.741998	0.03807	T	0.00579047969745276	0.00063	T	0.537446	0.18074	T	0.04769897	0.08195	0.03955536	0.04075	0.04769897	0.08194	0.03955536	0.04075	-3.855	0.21629	T	.	.	0.079	0.10497	B	.;.;.	.;.;.	0.767465	0.11374	7.988	0.42212572945508198	0.03096	0.03944	0.09342	N	AEFDGBCI	.	.	.	-1.12769086801623	0.06155	0.2825768	-1.1299363594426	0.07133	0.3458407	0.99045781639145	0.32159	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.45	1.29	0.20717	0.150000	0.16082	1.242000	0.25113	-0.150000	0.12128	0.000000	0.06391	0.003000	0.18671	0.000000	0.00833	0.1064:0.1944:0.5076:0.1916	2.536	0.04427	846	0.36215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	2644.68	35	chr16	57382560	.	C	T	2644.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.67;DP=857;ExcessHet=0.3300;FS=4.703;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=-1.560e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/1:43,26:69:99:708,0,1153	18	0	3	0
chr16	68226418	68226418	G	T	exonic	NFATC3	.	nonsynonymous SNV	NFATC3:NM_173165:exon10:c.G3175T:p.A1059S,	.	.	423	1088	11	0	0	11	0.00502972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.002	B	0.230	N	0.990	D	-0.895	N	3.19	T	-0.837	T	0.006	T	0.15	1.103	9.501	-4.51	-0.390	-0.498	0.196	0.055	0.00651170224194	0.0004	.	0.0003	0	0.0005	0	0	0.0004	0.0011	0.0004	0.0003493	54	154602	rs111275665	0.0003	0.0003	0.0003	0.0003	0.0025	0.0003	0.0003	0.0015	0.0012	3.316e-05	0.0006	0.0033	0	0	0.0025	0.0002	0.0009	0.0004	0.0003	0.0003	0.0003	0.0003	0.0008	0.0003	0.0002	0.0005	0.0004	4.812e-05	0	0.0008	0.0017	0	0	0.0068	0.0003	0.0009	0.0004	0.897	0.02442	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	0.229674	0.03510	N	1.500930	0.990361	0.41143	D	-0.41	0.02942	N	3.19	0.07353	T	0.15	0.05310	N	0.061	0.03283	-0.8365	0.52878	T	0.006	0.01981	T	10	0.004518777	0.00093	T	0.006512	0.17157	T	0.055	0.15663	.	.	0.158540857583	0.15491	0.11191294183365676	0.11120	0.0663336496429	0.07396	0.277987241745	0.07213	T	0.051608	0.28927	T	-0.540508	0.00333	T	-0.682114	0.06855	T	0.017393563475644	0.00477	T	0.586341	0.21412	T	0.0602972	0.12356	0.03816623	0.03625	0.0602972	0.12356	0.03816623	0.03625	-3.011	0.10300	T	.	.	0.070	0.03443	B	.	.	0.365618	0.07381	4.004	0.70016212451434179	0.09158	0.09298	0.15082	N	AEFBCI	0.054523	0.09922	N	-1.40877679719788	0.02561	0.1132517	-1.3015562529537	0.04411	0.2079675	0.998934656499699	0.38009	0.722319	0.85440	0	0.698795	0.70079	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.85	-4.51	0.03237	-0.480000	0.06639	0.291000	0.16873	-0.113000	0.14837	0.085000	0.22462	0.041000	0.21590	0.940000	0.48062	0.2731:0.2581:0.1679:0.301	0.196	0.00130	12	0.98946	.	.	.	.	.	.	Uncertain significance	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	1195.98	34	chr16	68226418	.	G	T	1195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.896e+00;DP=802;ExcessHet=0.0000;FS=3.650;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=1.43;SOR=0.467	GT:AD:DP:GQ:PL	0/1:53,51:104:99:1210,0,1400	20	0	1	0
chr16	70365116	70365116	G	A	exonic	DDX19A	.	nonsynonymous SNV	DDX19A:NM_001320522:exon6:c.G496A:p.V166I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.015	B	0.055	B	0.000	D	1.000	D	-0.495	N	2.64	T	-1.015	T	0.016	T	0.287	0.337	5.826	4.45	1.251	6.027	13.273	0.071	0.00382499385295	.	0.000599042	0.0002	0	8.642e-05	0.0024	0	1.5e-05	0	0	0.0001682	26	154602	rs201168154	4.793e-05	4.857e-05	4.361e-05	5.23e-05	0.0011	3.864e-05	3.543e-05	0.0009	0.0008	8.974e-05	4.472e-05	0	0.0011	0	0	1.08e-05	0.0001	0	9.85e-05	9.844e-05	0.0001	9.401e-05	0.0021	6.003e-05	4.877e-05	0.0012	0.0009	7.218e-05	0	0	0	0.0021	0	0	1.47e-05	0	0	0.323	0.13436	T	0.604	0.08991	T	0.006	0.13644	B	0.043	0.24256	B	0.000001	0.84330	D	0.054132	0.99929	0.47544	D	-0.34	0.03507	N	3.59	0.12780	T	-0.43	0.14782	N	0.279	0.31925	-1.0153	0.25240	T	0.016	0.06425	T	10	0.01244539	0.00267	T	0.003825	0.08930	T	0.071	0.20720	.	.	0.248133497653	0.24425	0.1919593243302533	0.19113	0.470572567331	0.46329	.	.	.	0.062675	0.31979	T	-0.518526	0.00449	T	-0.522218	0.20070	T	0.038872692676206	0.03488	T	0.928607	0.74652	D	0.07857522	0.17903	0.05930696	0.11107	0.07857522	0.17902	0.05930696	0.11107	-8.59	0.65023	D	.	.	0.084	0.34645	B	.;.;.	.;.;.	2.552448	0.33039	19.22	0.8030773860685223	0.13141	0.90054	0.50936	D	AEFBCI	0.561508	0.56947	D	-0.418157350857362	0.24833	1.343673	-0.189017315880071	0.31938	1.812259	0.0146824286066149	0.12626	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	4.45	0.53365	6.103000	0.71146	4.923000	0.46060	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.0:0.0:0.8402:0.1598	13.273	0.59607	101	0.95833	.;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1699.98	34	chr16	70365116	.	G	A	1699.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.932;DP=830;ExcessHet=0.0000;FS=1.419;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=-4.710e-01;SOR=0.844	GT:AD:DP:GQ:PL	0/1:67,65:132:99:1714,0,1681	20	0	1	0
chr16	70475698	70475698	G	A	exonic	FCSK	.	nonsynonymous SNV	FCSK:NM_145059:exon20:c.G2572A:p.A858T,	.	.	410	1108	4	0	0	4	0.0018018	.	.	1674297	FCSK-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.43	T	0.743	P	0.157	B	0.000	D	1.000	D	0.37	N	-1.97	D	-0.079	T	0.499	T	0.243	2.474	14.23	5.83	2.764	4.024	13.538	0.397	0.050452640604	0.0014	0.000599042	0.0016	0.0002	0.0018	0.0002	0.0028	0.0022	0.0049	0.0002	0.0012742	197	154602	rs17884050	0.0013	0.0013	0.0013	0.0013	0.0023	0.0013	0.0012	0.0014	0.0014	0.0003	0.0014	0.0005	0.0002	0.0015	0.0023	0.0015	0.0013	9.411e-05	0.0011	0.0011	0.0010	0.0012	0.0015	0.0010	0.0009	0.0013	0.0012	0.0002	0	0.0014	0.0006	0.0002	0.0023	0.0068	0.0015	0.0019	0.0002	0.695	0.04239	T	1.0	0.06970	T	0.743	0.43037	P	0.157	0.34536	B	0.000001	0.84330	D	0.098157	0.692519	0.33341	D	0.375	0.12094	N	-1.97	0.91589	D	-0.63	0.18459	N	0.16	0.23125	-0.0789	0.80578	T	0.499	0.81043	T	10	0.017180175	0.00365	T	0.050453	0.64249	D	0.397	0.71163	.	.	0.832011388605	0.83041	0.13969291915166132	0.13892	0.0851734426046	0.09628	0.45239084959	0.32270	T	0.188495	0.59934	T	-0.320815	0.06832	T	-0.246835	0.50129	T	0.0119136490788194	0.00186	T	0.751925	0.37414	T	0.18287468	0.39527	0.17957802	0.40701	0.15523157	0.35094	0.17485188	0.39910	-8.243	0.62714	D	.	.	0.108	0.21011	B	.;.;.	.;.;.	2.272336	0.29044	18.00	0.90695598879953598	0.19946	0.86987	0.46395	D	AEFDGBI	0.157940	0.28352	N	-0.0255330252833098	0.40703	2.421682	0.112326231333735	0.45176	2.785618	0.999999965742761	0.74766	0.489673	0.17934	0	0.71359	0.82159	0	0.641878	0.46077	1	0.491896	0.07777	0	.	.	5.83	5.83	0.93059	4.091000	0.57425	6.612000	0.56091	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.265000	0.23644	0.0:0.0:0.7278:0.2722	13.538	0.61119	108	0.95573	GHMP kinase N-terminal domain;GHMP kinase 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	0	0	0	0	0.02381	1105.98	33	chr16	70475698	.	G	A	1105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=773;ExcessHet=0.0000;FS=1.921;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.15;ReadPosRankSum=-5.730e-01;SOR=0.954	GT:AD:DP:GQ:PL	0/1:32,41:73:99:1120,0,736	20	0	1	0
chr16	70941764	70941764	T	C	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon43:c.A6725G:p.Q2242R,	Ciliary dyskinesia, primary, 5, Autosomal recessive	.	1	1476	45	0	0	45	0.015015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.008	N	0.979	N	-2.25	N	1.83	T	-0.944	T	0.011	T	0.018	-1.985	0.007	2.3	0.074	0.490	7.931	0.055	0.00304817483334	.	.	.	.	.	.	.	.	.	.	0.201821	5253	26028	rs2258307	0.0006	0.0046	0.0005	0.0007	0.0030	0.0005	0.0005	0.0026	0.0025	0.0008	0.0020	0.0007	0.0016	0.0004	0.0007	0.0003	0.0006	0.0030	0.0006	0.0069	0.0006	0.0007	0.0015	0.0005	0.0005	0.0007	0.0006	0.0006	0.0012	0.0011	0.0006	0.0007	0.0006	0	0.0004	0.0005	0.0015	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.007911	0.31126	N	0.000000	1	0.08975	N	-2.535	0.00052	N	1.83	0.24841	T	0.95	0.01509	N	0.075	0.04913	-0.9444	0.41911	T	0.011	0.03949	T	10	0.014688522	0.00309	T	0.003048	0.06577	T	0.055	0.15663	0.126	0.03173	0.0401082797425	0.02173	0.06463877075559986	0.06402	.	.	0.302159249783	0.10723	T	0.024145	0.18301	T	-0.40012	0.02311	T	-0.812521	0.01609	T	0.00371605582644517	0.00039	T	.	.	.	0.01730264	0.00262	0.047856588	0.06984	0.01730264	0.00262	0.047856588	0.06983	-1.638	0.02072	T	.	.	0.057	0.00514	B	.	.	-0.062839	0.03868	0.839	0.12267503050596004	0.00208	0.00371	0.01888	N	AEFDBI	0.034365	0.04242	N	-2.02332666223511	0.00188	0.008074081	-1.83612994732176	0.00650	0.02891615	0.999998211458731	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.607795	0.38427	0	0.542086	0.14980	0	.	.	5.32	2.3	0.27735	0.561000	0.23220	-0.085000	0.12129	-1.628000	0.00857	0.004000	0.16614	0.000000	0.08366	0.046000	0.14843	0.0:0.6869:0.1154:0.1977	7.931	0.29066	552	0.72024	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.125	329.21	41	chr16	70941764	.	T	C	329.21	.	AC=5;AF=0.125;AN=40;BaseQRankSum=1.36;DP=1795;ExcessHet=1.1607;FS=31.919;InbreedingCoeff=-0.1475;MLEAC=5;MLEAF=0.125;MQ=48.99;MQRankSum=-5.512e+00;QD=0.58;ReadPosRankSum=-2.458e+00;SOR=4.591	GT:AD:DP:GQ:PL	0/1:95,17:112:99:204,0,2666	15	0	5	1
chr16	72787701	72787703	GCC	-	exonic	ZFHX3	.	nonframeshift deletion	ZFHX3:NM_001164766:exon9:c.7831_7833del:p.G2613del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	19724.38	41	chr16	72787694	.	AGCCGCCGCC	A,AGCCGCC,AGCCGCCGCCGCC	19724.38	.	AC=4,1,1;AF=0.095,0.024,0.024;AN=42;BaseQRankSum=0.863;DP=1981;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=4,1,1;MLEAF=0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=21.16;ReadPosRankSum=-6.700e-02;SOR=0.725	GT:AD:DP:GQ:PL	0/1:117,88,0,0:205:99:3176,0,4467,3606,4839,8967,3606,4839,8967,8967	16	0	3	0
chr16	72787703	72787703	-	GCC	exonic	ZFHX3	.	nonframeshift insertion	ZFHX3:NM_001164766:exon9:c.7830_7831insGGC:p.G2613_S2614insG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	19724.38	41	chr16	72787694	.	AGCCGCCGCC	A,AGCCGCC,AGCCGCCGCCGCC	19724.38	.	AC=4,1,1;AF=0.095,0.024,0.024;AN=42;BaseQRankSum=0.863;DP=1981;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=4,1,1;MLEAF=0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=21.16;ReadPosRankSum=-6.700e-02;SOR=0.725	GT:AD:DP:GQ:PL	0/1:117,88,0,0:205:99:3176,0,4467,3606,4839,8967,3606,4839,8967,8967	16	0	3	0
chr16	75714457	75714457	T	C	exonic	CPHXL	.	nonsynonymous SNV	CPHXL:NM_001355613:exon3:c.A985G:p.M329V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07663956	0.11996	T	.	.	.	.	.	.	.	.	.	0.00430315907806009	0.00404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411659	0.10685	T	.	.	.	.	.	.	.	.	-2.958	0.09736	T	.	.	0.151	0.33481	B	.	.	-0.718698	0.01278	0.067	0.28168169534179804	0.01433	0.00228	0.01279	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.00588232393236012	0.11069	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0532412	0.11699	1.18	-2.36	0.06282	-1.573000	0.02238	-1.626000	0.05034	0.341000	0.19778	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.3964:0.0:0.3486:0.255	2.139	0.03540	648	0.63242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	31.63	52	chr16	75714457	.	T	C	31.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.240e-01;DP=52;ExcessHet=0.0000;FS=0.000;MLEAC=3;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=6.33;ReadPosRankSum=1.65;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,2:5:34:34,0,75	6	0	1	14
chr16	81026555	81026555	G	A	exonic	CENPN	.	nonsynonymous SNV	CENPN:NM_001270473:exon8:c.G667A:p.V223I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.002	B	0.002	B	0.416	N	1.000	N	0	N	1.96	T	-0.989	T	0.018	T	0.021	0.438	6.378	-6.5	-1.247	-1.071	10.067	0.009	.	0.0046	0.00459265	0.0014	0.0149	0.0015	0	0	0	0	0	0.0012484	193	154602	rs75058642	0.0004	0.0004	0.0005	0.0004	0.0154	0.0004	0.0004	0.0143	0.0139	0.0154	0.0011	0	0.0001	0	0.0005	5.44e-06	0.0007	0	0.0045	0.0045	0.0047	0.0044	0.0157	0.0042	0.0041	0.0147	0.0143	0.0157	0	0.0021	0	0	0	0	1.471e-05	0.0019	0	0.236	0.18061	T	0.265	0.22694	T	0.0	0.02946	B	0.001	0.04355	B	0.416149	0.04620	N	1.333650	1	0.08975	N	0.69	0.16971	N	1.96	0.22270	T	-0.49	0.15578	N	0.114	0.16168	-0.9893	0.32778	T	0.018	0.07376	T	10	0.0048529804	0.00103	T	.	.	.	0.009	0.00846	.	.	0.101711395817	0.09552	0.12081740288590756	0.12008	0.0118432227358	0.01115	0.266549825668	0.05696	T	0.008207	0.07549	T	-0.72675	0.00025	T	-0.803077	0.01826	T	0.0021404126234558	0.00022	T	0.537746	0.18100	T	0.016756853	0.00220	0.02907682	0.01206	0.016756853	0.00220	0.02907682	0.01206	-3.221	0.13302	T	.	.	0.069	0.07224	B	.;.;.;.	.;.;.;.	-1.005181	0.00763	0.024	0.73397749291752246	0.10313	0.03873	0.09239	N	AEFDBHCI	0.026122	0.01906	N	-1.50254658616892	0.01833	0.08037079	-1.55190275435441	0.01963	0.08962539	0.993968556004938	0.33430	0.744818	0.98587	0	0.708844	0.79440	0	0.724815	0.87919	0	0.76194	0.99817	0	.	.	5.25	-6.5	0.01714	-0.861000	0.04376	-0.262000	0.10418	-0.251000	0.07141	0.000000	0.06391	0.000000	0.08366	0.168000	0.20914	0.1748:0.3018:0.5234:0.0	10.067	0.41481	711	0.56613	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1293.98	34	chr16	81026555	.	G	A	1293.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.134;DP=780;ExcessHet=0.0000;FS=0.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.22;ReadPosRankSum=0.828;SOR=0.802	GT:AD:DP:GQ:PL	0/1:37,54:91:99:1308,0,853	20	0	1	0
chr16	81117481	81117481	G	T	exonic	PKD1L2	.	unknown	UNKNOWN,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0005	0.0006	0.0003	0.0003	0	0.0006	0	0.0007	0.0005821	90	154602	rs73601210	0.0006	0.0006	0.0006	0.0006	0.0010	0.0006	0.0006	0.0008	0.0007	0.0010	0.0006	3.831e-05	0.0004	0.0001	0.0002	0.0006	0.0004	0.0010	0.0005	0.0005	0.0006	0.0005	0.0010	0.0004	0.0004	0.0007	0.0005	0.0006	0	0.0010	0	0.0010	9.409e-05	0	0.0004	0.0014	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1196.98	35	chr16	81117481	.	G	T	1196.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=935;ExcessHet=0.0000;FS=3.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.88;ReadPosRankSum=1.62;SOR=0.437	GT:AD:DP:GQ:PL	0/1:61,49:110:99:1211,0,1482	20	0	1	0
chr16	83899350	83899350	C	T	exonic	MLYCD	.	nonsynonymous SNV	MLYCD:NM_012213:exon1:c.C206T:p.A69V,	Malonyl-CoA decarboxylase deficiency, Autosomal recessive	.	0	1504	18	0	0	18	0.00594845	.	.	247120	Deficiency_of_malonyl-CoA_decarboxylase|MLYCD-related_disorder|not_specified|not_provided	MONDO:MONDO:0009556,MedGen:C0342793,OMIM:248360,Orphanet:943|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.37	T	0.685	P	0.036	B	0.001	N	0.971	D	1.935	M	-3.42	D	0.453	D	0.705	D	0.767	3.401	17.48	4.25	2.075	2.328	15.997	0.590	.	0.0032	0.000798722	0.0075	0	0.0185	0	0	0.0203	0	0.0001	0.0033247	514	154602	rs200579941	0.0034	0.0033	0.0034	0.0033	0.0044	0.0033	0.0032	0.0032	0.0031	0.0006	0.0024	0.0284	0	0.0003	0.0044	0.0033	0.0044	0.0003	0.0028	0.0028	0.0030	0.0026	0.0037	0.0026	0.0025	0.0033	0.0032	0.0006	0.0066	0.0017	0.0289	0	0.0005	0.0103	0.0037	0.0033	0.0002	0.168	0.23007	T	0.595	0.08079	T	0.685	0.41537	P	0.036	0.22909	B	0.001493	0.38855	N	0.244160	0.97088	0.38830	D	1.95	0.52479	M	-3.42	0.94348	D	-0.47	0.15178	N	0.778	0.77507	0.453	0.89877	D	0.705	0.89856	D	10	0.0071632266	0.00163	T	.	.	.	0.590	0.83636	.	.	0.936542578583	0.93588	0.2616706831724817	0.26080	1.20683058914	0.80723	0.912121415138	0.97667	D	0.100087	0.40554	T	0.0336871	0.56213	T	0.272562	0.86715	D	0.0523209546592648	0.05903	T	0.525947	0.17303	T	0.098773204	0.23301	0.15823261	0.36960	0.09376129	0.22029	0.18244977	0.41172	-5.555	0.42379	T	0.09975837277396712	0.07282	0.108	0.20625	B	.	.	3.090124	0.41606	21.4	0.99631057744544682	0.76020	0.77110	0.37878	D	AEFDBHCIJ	0.177773	0.30502	N	0.0155385130390293	0.42563	2.566802	0.0765228260236064	0.43369	2.640208	0.999999999999941	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.25	4.25	0.49658	1.861000	0.39078	4.381000	0.43181	0.437000	0.21030	0.980000	0.35271	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	15.997	0.80055	951	0.11083	.	.	.	.	.	.	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	1626.98	39	chr16	83899350	.	C	T	1626.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.401e+00;DP=843;ExcessHet=0.0000;FS=4.401;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=-3.750e-01;SOR=0.403	GT:AD:DP:GQ:PL	0/1:54,69:123:99:1641,0,1271	20	0	1	0
chr16	84191362	84191367	GCCCGC	-	exonic	ADAD2	.	nonframeshift deletion	ADAD2:NM_001145400:exon1:c.132_137del:p.P49_A50del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0.0008	0	0	0.0002	0	0.0017	0.0003363	52	154602	rs745979380	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0012	0.0011	0	0.0007	0	5.229e-05	0	0.0017	0.0001	0.0004	0.0014	0.0003	0.0003	0.0002	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	0	0	0.0006	0	0.0002	0	0	0.0003	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	9312.79	48	chr16	84191361	.	GGCCCGC	AGCCCGC,G	9312.79	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.595;DP=904;ExcessHet=0.2231;FS=3.336;InbreedingCoeff=0.2202;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=18.12;ReadPosRankSum=-4.400e-02;SOR=0.756	GT:AD:DP:GQ:PL	0/1:17,20,0:37:99:556,0,509,607,569,1176	11	2	7	0
chr16	84237124	84237124	C	T	exonic	KCNG4	.	nonsynonymous SNV	KCNG4:NM_172347:exon2:c.G362A:p.G121E,	.	.	422	1095	5	0	0	5	0.0022779	.	.	2291939	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.977	D	0.656	P	0.000	D	0.980	D	0.67	N	-0.81	T	-0.457	T	0.310	T	0.557	3.497	17.88	3.07	0.497	4.864	14.447	0.370	0.031901450938	0.0005	.	0.0002	0	0	0	0	0.0003	0	0.0004	0.0002587	40	154602	rs139917975	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0005	5.974e-05	0	0	0	1.873e-05	0.0003	0.0005	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0001	0.0002	0.0001	0.0002	0	6.538e-05	0	0	0	0	0.0003	0	0.0006	0.122	0.27663	T	0.84	0.03610	T	0.635	0.58535	P	0.41	0.52685	B	0.000038	0.55875	D	0.158983	0.938911	0.39578	D	0.935	0.23595	L	-0.81	0.73949	T	-1.09	0.28290	N	0.583	0.62357	-0.4566	0.70181	T	0.310	0.68048	T	10	0.44320303	0.58232	T	0.031901	0.53866	D	0.370	0.68930	.	.	0.655005393053	0.65212	0.8586314626879468	0.85826	0.288080729046	0.31214	0.485423803329	0.36805	T	0.222889	0.58687	T	-0.287465	0.09892	T	-0.226233	0.52136	T	0.0851231414396133	0.10629	T	0.946205	0.79443	D	0.30397373	0.53259	0.32174495	0.58120	0.30397373	0.53259	0.32174495	0.58119	-6.93	0.53521	T	.	.	0.262	0.49635	B	.;.	.;.	3.287893	0.45079	22.1	0.99427567334982592	0.64081	0.87491	0.47048	D	AEFDBI	0.794867	0.72245	D	0.00188493586390381	0.41940	2.517844	0.00531368521278225	0.39960	2.377416	0.848502224475227	0.24999	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.12	3.07	0.34476	4.935000	0.63199	3.237000	0.36943	0.513000	0.23382	0.786000	0.29545	0.998000	0.33993	0.974000	0.55675	0.0:0.7201:0.2799:0.0	14.447	0.66929	867	0.32089	Potassium channel tetramerisation-type BTB domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1960.98	42	chr16	84237124	.	C	T	1960.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.13;DP=1029;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.96;ReadPosRankSum=-1.437e+00;SOR=0.697	GT:AD:DP:GQ:PL	0/1:92,72:164:99:1975,0,2461	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	1/4:0,45,0,0,59,0:104:99:4251,2377,2245,4279,2403,4431,4279,2403,4431,4431,1877,0,2054,2054,2022,4279,2403,4431,4431,2054,4431	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	1/4:0,45,0,0,59,0:104:99:4251,2377,2245,4279,2403,4431,4279,2403,4431,4431,1877,0,2054,2054,2022,4279,2403,4431,4431,2054,4431	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	1/4:0,45,0,0,59,0:104:99:4251,2377,2245,4279,2403,4431,4279,2403,4431,4431,1877,0,2054,2054,2022,4279,2403,4431,4431,2054,4431	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	1/4:0,45,0,0,59,0:104:99:4251,2377,2245,4279,2403,4431,4279,2403,4431,4431,1877,0,2054,2054,2022,4279,2403,4431,4431,2054,4431	4	4	6	0
chr16	88439246	88439246	G	A	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G11776A:p.E3926K,	Brittle cornea syndrome 1, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1296819	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.955	D	.	.	0.825	N	0.895	L	2.03	T	-1.046	T	0.089	T	0.342	3.079	16.28	4.98	2.314	6.993	15.395	0.159	0.371197046393	.	.	0.0001	0.0005	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs773010511	3.076e-05	2.941e-05	2.258e-05	3.916e-05	0.0005	2.317e-05	2.059e-05	0.0003	0.0003	0.0005	0	0	2.798e-05	0	0	1.668e-05	5.174e-05	6.31e-05	0.0001	0.0001	0.0001	9.393e-05	0.0003	7.083e-05	5.741e-05	0.0002	0.0001	0.0003	0	0.0002	0	0.0002	0	0	1.47e-05	0	0	0.053	0.38863	T	0.052	0.48855	T	.	.	.	.	.	.	.	.	.	.	0.824754	0.28837	N	.	.	.	1.97	0.22067	T	-1.43	0.35194	N	0.153	0.33360	-1.0465	0.15389	T	0.089	0.34325	T	9	0.13751948	0.26159	T	0.371197	0.92751	D	0.159	0.41286	0.139	0.04277	0.0954503805726	0.09146	0.11461213344363748	0.11389	.	.	0.473471224308	0.35158	T	0.090523	0.38602	T	-0.320436	0.06862	T	-0.379988	0.35723	T	0.27811459173243	0.24092	T	0.729427	0.34485	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.43200	B	.;.	.;.	4.613461	0.73190	25.9	0.99718205887848399	0.81843	0.68488	0.33821	D	AEFBHCI	0.722738	0.67258	D	0.514788506153748	0.67962	5.152418	0.500453797053732	0.68023	5.162972	0.999375254465796	0.39355	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.699875	0.68795	0	.	.	4.98	4.98	0.65679	7.257000	0.77775	9.763000	0.81520	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.564000	0.30507	0.0:0.0:1.0:0.0	15.395	0.74501	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2687.98	119	chr16	88439246	.	G	A	2687.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=2509;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.19;ReadPosRankSum=-5.390e-01;SOR=0.724	GT:AD:DP:GQ:PL	0/1:77,100:177:99:2702,0,1830	20	0	1	0
chr16	88647125	88647125	T	G	exonic	CYBA	.	nonsynonymous SNV	CYBA:NM_000101:exon3:c.A179C:p.K60T,	Chronic granulomatous disease, autosomal, due to deficiency of CYBA, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	247122	Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-negative|not_specified|not_provided|CYBA-related_disorder	MONDO:MONDO:0009308,MedGen:C1856255,OMIM:233690,Orphanet:379|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.003	B	0.005	B	0.386	N	1.000	N	1.04	L	-2.04	D	-0.776	T	0.300	T	0.489	1.850	12.15	-5.24	-1.076	-0.727	5.647	0.329	0.016166275187	0.0041	0.00199681	0.0039	0.0016	0.0055	0	0.0004	0.0056	0.0012	0.0007	0.0036675	567	154602	rs11547387	0.0057	0.0057	0.0058	0.0056	0.0067	0.0056	0.0055	0.0066	0.0066	0.0011	0.0060	0.0008	0	0.0005	0.0057	0.0067	0.0057	0.0008	0.0043	0.0043	0.0042	0.0045	0.0099	0.0040	0.0039	0.0086	0.0081	0.0015	0	0.0099	0.0009	0	0.0006	0.0170	0.0060	0.0071	0.0015	0.116	0.45039	T	0.212	0.46182	T	0.003	0.11197	B	0.005	0.11217	B	0.385923	0.04448	N	1.371070	1	0.08975	N	0.63	0.15941	N	-2.04	0.85703	D	-2.97	0.66085	D	0.237	0.27792	-0.7758	0.56537	T	0.300	0.67111	T	10	0.008750349	0.00198	T	0.016166	0.37293	T	0.329	0.65126	.	.	0.541648499649	0.53818	0.8292473251073803	0.82882	0.208325493003	0.23308	0.317980647087	0.13115	T	0.721247	0.92124	D	-0.552751	0.00281	T	-0.561075	0.16277	T	0.00472404585634092	0.00051	T	0.684832	0.29934	T	0.05433124	0.10408	0.052158862	0.08539	0.070885465	0.15649	0.07415533	0.16191	-3.16	0.11998	T	0.20250862961060195	0.26936	0.104	0.40032	B	.;.;.;.	.;.;.;.	-0.410024	0.02176	0.213	0.97876109954686652	0.36567	0.11738	0.16830	N	AEFDBCI	0.090286	0.18297	N	-1.27823964849651	0.03939	0.1768622	-1.34485410366052	0.03867	0.1812507	0.999996205130538	0.74766	0.751926	0.98777	0	0.639134	0.57113	0	0.643519	0.47002	0	0.562822	0.20929	0	.	.	4.61	-5.24	0.02576	-1.045000	0.03639	-3.897000	0.02466	-0.218000	0.08083	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.0:0.2744:0.2628:0.4628	5.647	0.16871	835	0.38313	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1158.98	42	chr16	88647125	.	T	G	1158.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.795e+00;DP=934;ExcessHet=0.0000;FS=0.745;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=1.57;SOR=0.563	GT:AD:DP:GQ:PL	0/1:53,51:104:99:1173,0,1375	20	0	1	0
chr16	88807362	88807362	C	T	exonic	CDT1	.	nonsynonymous SNV	CDT1:NM_030928:exon9:c.C1357T:p.R453W,	Meier-Gorlin syndrome 4, Autosomal recessive	.	0	1503	17	2	0	21	0.00693756	.	.	429864	not_specified|Meier-Gorlin_syndrome_4|not_provided	MedGen:CN169374|MONDO:MONDO:0013431,MedGen:C3151120,OMIM:613804,Orphanet:2554|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.994	D	2.835	M	-1.89	D	0.236	D	0.703	D	0.932	2.702	15.00	0.746	0.282	3.000	4.433	0.591	0.196229013514	0.0002	0.00119808	0.0015	0.0002	0.0004	0	0	0.0002	0.0024	0.0097	0.0012613	195	154602	rs200672589	0.0007	0.0007	0.0004	0.0010	0.0100	0.0007	0.0007	0.0095	0.0093	5.975e-05	0.0001	0	0	1.924e-05	0.0017	8.994e-05	0.0009	0.0100	0.0004	0.0004	0.0003	0.0006	0.0087	0.0003	0.0003	0.0066	0.0059	2.405e-05	0	6.532e-05	0	0	0	0	0.0002	0.0005	0.0087	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000011	0.62929	D	0.064498	0.994457	0.42288	D	3.04	0.86592	M	-1.89	0.84557	D	-6.96	0.93509	D	0.944	0.95139	0.236	0.86517	D	0.703	0.89779	D	10	0.044795364	0.03478	T	0.196229	0.86468	D	0.591	0.83691	.	.	0.966768201255	0.96641	0.692137122156209	0.69153	0.0957176713652	0.10811	0.487810194492	0.37135	T	0.678472	0.90533	D	0.0893022	0.63112	D	0.362749	0.90804	D	0.261758791827368	0.23392	T	0.907609	0.67324	D	0.8409009	0.86673	0.7466684	0.85026	0.8409009	0.86674	0.7466684	0.85027	-9.535	0.71076	D	0.8500032524423916	0.91640	0.141	0.30971	B	.	.	4.595256	0.72728	25.9	0.99750430590642192	0.84228	0.97147	0.72965	D	AEFDBHCI	0.482043	0.52308	N	0.00257246074425099	0.41972	2.520293	-0.209665185033156	0.31187	1.762707	0.999993722833189	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.48	0.746	0.17514	3.144000	0.50312	3.284000	0.37253	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.746000	0.35646	0.2042:0.5621:0.0992:0.1345	4.433	0.10959	824	0.40336	DNA replication factor Cdt1, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	545.98	39	chr16	88807362	.	C	T	545.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.341;DP=759;ExcessHet=0.0000;FS=2.259;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.93;ReadPosRankSum=-4.200e-02;SOR=0.434	GT:AD:DP:GQ:PL	0/1:31,24:55:99:560,0,726	20	0	1	0
chr16	88865083	88865083	G	A	exonic	PABPN1L	.	nonsynonymous SNV	PABPN1L:NM_001080487:exon6:c.C505T:p.R169C	.	.	319	1201	1	1	0	3	0.0012474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.99	D	0.86	P	0.477	N	1.000	N	1.58	L	2.34	T	-0.996	T	0.039	T	0.324	0.497	6.694	-5.11	-0.853	0.128	0.613	0.106	.	0.0035	0.00299521	0.0055	0.0017	0.0112	0	0.0018	0.0080	0.0153	0.0008	0.0030207	467	154602	rs148432784	0.0058	0.0058	0.0060	0.0056	0.0069	0.0057	0.0057	0.0068	0.0068	0.0011	0.0065	0.0009	2.605e-05	0.0010	0.0010	0.0069	0.0049	0.0006	0.0044	0.0044	0.0045	0.0044	0.0103	0.0041	0.0040	0.0090	0.0085	0.0012	0	0.0103	0.0009	0	0.0014	0	0.0063	0.0081	0.0006	0.09	0.31987	T	0.124	0.35455	T	0.99	0.63424	D	0.86	0.61233	P	0.476986	0.04959	N	1.320150	1	0.08975	N	1.845	0.48678	L	2.34	0.16351	T	0.58	0.02598	N	0.283	0.32037	-0.9962	0.30974	T	0.039	0.16849	T	10	0.007923096	0.00180	T	.	.	.	0.106	0.30130	.	.	0.0666544352282	0.05500	0.4354335960305048	0.43460	0.00981375539868	0.00893	0.226425439119	0.01714	T	0.004371	0.03778	T	-0.564092	0.00240	T	-0.57366	0.15115	T	0.0215390067787671	0.00858	T	0.852415	0.53747	D	0.042662807	0.06510	0.039662663	0.04111	0.042662807	0.06510	0.039662663	0.04111	-4.855	0.54724	T	.	.	0.087	0.11172	B	.;.	.;.	1.156219	0.15446	11.86	0.87087435809174041	0.16979	0.10178	0.15756	N	AEFDBI	0.173650	0.30074	N	-1.34251776177443	0.03203	0.1426843	-1.49460012069573	0.02388	0.1097499	0.28034256981972	0.18982	0.580535	0.33130	0	0.514364	0.08380	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.48	-5.11	0.02682	0.187000	0.16806	0.622000	0.20140	-1.788000	0.00641	0.358000	0.25825	0.000000	0.08366	0.000000	0.00833	0.2554:0.1545:0.3142:0.276	0.613	0.00715	873	0.30802	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1150.98	36	chr16	88865083	.	G	A	1150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=868;ExcessHet=0.0000;FS=2.243;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.44;ReadPosRankSum=1.27;SOR=1.108	GT:AD:DP:GQ:PL	0/1:23,43:66:99:1165,0,463	20	0	1	0
chr16	89284161	89284161	A	G	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.T2381C:p.I794T	KBG syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.001	B	0.473	N	1.000	N	-0.69	N	1.34	T	-1.005	T	0.024	T	0.026	-1.923	0.008	-1.61	-0.189	0.562	1.593	0.018	0.00727015055541	.	.	8.591e-06	0	8.868e-05	0	0	0	0	0	6.5e-06	1	154602	rs759272573	1.377e-06	3.42e-06	1.369e-06	1.386e-06	4.661e-05	2.3e-07	9e-08	7.73e-06	2.89e-06	0	4.661e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.52	0.10465	T	0.0	0.02946	B	0.0	0.01387	B	0.473085	0.12254	N	0.748708	1	0.08975	N	-1.085	0.01025	N	1.34	0.34841	T	1.27	0.00985	N	0.046	0.02088	-1.0048	0.28517	T	0.024	0.10194	T	10	0.016104728	0.00339	T	0.00727	0.19280	T	0.018	0.03083	0.218	0.13932	0.102598925029	0.09809	3.480766670945786E-4	0.00031	0.108005847181	0.12179	0.323267638683	0.13916	T	0.061263	0.31607	T	-0.50949	0.00505	T	-0.78994	0.02166	T	0.0337778290875112	0.02601	T	0.126787	0.01303	T	0.020807045	0.00653	0.037021473	0.03266	0.020807045	0.00653	0.037021473	0.03266	-3.569	0.17410	T	0.0408067304843778	0.00374	0.07	0.06024	B	.;.;.;.	.;.;.;.	-0.089938	0.03702	0.755	0.29245769297825269	0.01541	0.12818	0.17497	N	AEDBI	0.048489	0.08280	N	-1.30269010940199	0.03644	0.1631694	-1.23211650683061	0.05401	0.257258	0.785011936865866	0.23914	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.43	-1.61	0.07951	0.642000	0.24426	0.839000	0.22025	-0.752000	0.03574	0.196000	0.24261	0.001000	0.17328	0.524000	0.29567	0.2653:0.2317:0.3836:0.1193	1.593	0.02498	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.3529	1077.74	147	chr16	89284161	.	A	G	1077.74	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.922e+00;DP=2410;ExcessHet=9.6308;FS=135.155;InbreedingCoeff=-0.4981;MLEAC=14;MLEAF=0.412;MQ=60.00;MQRankSum=0.00;QD=0.73;ReadPosRankSum=0.835;SOR=11.622	GT:AD:DP:GQ:PL	0/1:149,36:185:17:17,0,2953	5	0	12	4
chr16	89767168	89767168	G	C	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon27:c.C2574G:p.S858R	Fanconi anemia, complementation group A, Autosomal recessive	.	3	1387	124	8	0	140	0.0480439	.	.	137995	Fanconi_anemia_complementation_group_A|not_specified|not_provided|Fanconi_anemia|FANCA-related_disorder	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.468	P	0.143	B	0.179	N	1.000	N	1.61	L	-1.88	D	-0.709	T	0.315	T	0.357	-0.052	3.749	1.56	0.073	1.381	4.561	0.134	.	0.0053	0.00938498	0.0103	0.0013	0.0038	0	0.0100	0.0094	0.0099	0.0296	0.0096118	1486	154602	rs17233141	0.0092	0.0093	0.0085	0.0100	0.0324	0.0091	0.0090	0.0314	0.0310	0.0012	0.0043	0.0111	0	0.0093	0.0250	0.0080	0.0100	0.0324	0.0064	0.0064	0.0063	0.0065	0.0255	0.0061	0.0059	0.0218	0.0204	0.0018	0.0011	0.0067	0.0069	0.0002	0.0081	0.0170	0.0079	0.0090	0.0255	0.063	0.37536	T	0.072	0.45110	T	0.257	0.31412	B	0.143	0.33763	B	0.179044	0.17154	N	0.583605	1	0.08975	N	2.24	0.63355	M	-1.88	0.84557	D	-2.16	0.48850	N	0.338	0.39659	-0.7091	0.59997	T	0.315	0.68486	T	10	0.008692145	0.00197	T	.	.	.	0.134	0.36365	0.249	0.18602	.	.	0.17119845704923142	0.17039	.	.	0.284874647856	0.08182	T	0.224342	0.58875	T	-0.321408	0.06783	T	-0.210772	0.53621	T	0.00823742409031721	0.00099	T	0.563744	0.19863	T	0.068879694	0.15043	0.10313486	0.24736	0.086379096	0.20074	0.08347228	0.19130	-4.486	0.30718	T	0.5329796739477456	0.60360	0.201	0.43380	B	.;.	.;.	0.963643	0.13404	9.909	0.93017545135543789	0.22613	0.09317	0.15097	N	AEFBI	0.154989	0.28011	N	-0.867700815936059	0.11617	0.561594	-0.95107218514313	0.10898	0.5518684	0.720075285439065	0.22921	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.77	1.56	0.22423	1.788000	0.38346	3.011000	0.35961	-0.149000	0.12139	0.026000	0.20160	0.585000	0.25641	0.008000	0.08271	0.1928:0.0:0.634:0.1731	4.561	0.11560	671	0.60868	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	1	0	0	1	0	1	0	0.119	4261.42	36	chr16	89767168	.	G	C	4261.42	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-4.680e-01;DP=861;ExcessHet=0.0409;FS=2.815;InbreedingCoeff=0.3189;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=16.39;ReadPosRankSum=0.895;SOR=0.883	GT:AD:DP:GQ:PL	0/1:37,35:72:99:855,0,883	17	1	3	0
chr17	3062847	3062847	G	A	exonic	OR1D5	.	nonsynonymous SNV	OR1D5:NM_014566:exon1:c.C761T:p.T254M,	.	.	424	1094	3	1	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0118732806835	.	.	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs2258495	9.238e-05	0.0002	8.713e-05	9.767e-05	0.0008	7.96e-05	7.433e-05	0.0006	0.0006	5.975e-05	8.946e-05	0	0.0003	0	0.0002	3.957e-05	0.0001	0.0008	0.0001	0.0002	0.0001	0.0001	0.0012	7.086e-05	5.744e-05	0.0005	0.0004	4.811e-05	0	0	0	0.0004	0	0	0.0001	0	0.0012	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.999999	0.08975	N	3.455	0.92281	M	-0.63	0.72011	T	.	.	.	0.514	0.54496	.	.	.	.	.	.	.	0.56810117	0.65165	D	0.011873	0.29919	T	.	.	.	.	0.855324636859	0.85392	0.04796168997363756	0.04739	2.62205694876	0.98273	0.253825187683	0.04182	T	0.012907	0.11259	T	-0.066951	0.41814	T	-0.333947	0.41029	T	.	.	.	0.577942	0.20808	T	0.06147208	0.12732	0.21113539	0.45529	0.06147208	0.12731	0.21113539	0.45528	-8.667	0.65530	D	.	.	0.097	0.15609	B	.	.	4.127501	0.61742	24.4	0.9979165206545445	0.87750	0.07938	0.13923	N	AEFGI	0.063302	0.12225	N	.	.	.	.	.	.	7.16935459880942E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.45	3.45	0.38602	2.841000	0.47923	5.627000	0.49103	0.573000	0.29008	0.138000	0.23473	1.000000	0.68203	0.381000	0.26357	0.0:0.0:1.0:0.0	13.955	0.63653	870	0.31527	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	79.98	280	chr17	3062847	.	G	A	79.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=10.82;DP=4565;ExcessHet=0.0000;FS=42.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.02;MQRankSum=-9.823e+00;QD=0.15;ReadPosRankSum=-8.520e-01;SOR=5.995	GT:AD:DP:GQ:PL	0/1:473,46:519:94:94,0,14613	20	0	1	0
chr17	3216345	3216345	C	T	exonic	OR1A1	.	nonsynonymous SNV	OR1A1:NM_014565:exon1:c.C725T:p.S242F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.05	B	0.052	B	0.000	D	0.818	D	3.675	H	1.1	T	-0.431	T	0.226	T	0.585	2.206	13.33	5.05	2.632	7.199	17.140	0.235	0.00679429799731	.	0.000199681	0.0001	0	0	0	0	0	0	0.0009	0.0001035	16	154602	rs546921641	3.557e-05	3.557e-05	2.178e-05	4.95e-05	0.0006	2.762e-05	2.501e-05	0.0004	0.0004	0	0	0	0	0	0	0	6.623e-05	0.0006	1.313e-05	1.312e-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	0.005	0.63226	D	0.006	0.70582	D	0.05	0.22331	B	0.052	0.25551	B	0.000114	0.50451	D	0.000000	0.817727	0.34731	D	3.115	0.87836	M	1.1	0.39050	T	-5.67	0.87143	D	0.691	0.69649	-0.4313	0.71024	T	0.226	0.59058	T	10	0.078998566	0.12657	T	0.006794	0.17953	T	0.235	0.53788	0.512	0.61000	0.667260656149	0.66445	0.2593823366046793	0.25852	0.0460182427998	0.04998	0.243053242564	0.03072	T	0.012115	0.10705	T	-0.300571	0.08605	T	-0.26928	0.47893	T	0.467073261737823	0.31424	T	0.868713	0.57175	D	0.6486971	0.75294	0.5392352	0.73371	0.6486971	0.75295	0.5392352	0.73372	-8.57	0.64891	D	.	.	0.571	0.67815	P	.;.;.	.;.;.	3.776082	0.54268	23.5	0.9949691846685953	0.67801	0.97552	0.75497	D	AEFBI	0.691393	0.65140	D	0.224185318758994	0.52373	3.411909	0.243336750963609	0.52272	3.403084	0.999987565294842	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.05	5.05	0.67566	7.526000	0.80815	2.859000	0.35190	0.470000	0.21925	0.863000	0.30666	0.982000	0.30508	0.004000	0.06068	0.0:1.0:0.0:0.0	17.140	0.86628	616	0.66398	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2883.98	197	chr17	3216345	.	C	T	2883.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.26;DP=3052;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=0.625;SOR=0.669	GT:AD:DP:GQ:PL	0/1:104,97:201:99:2898,0,2933	20	0	1	0
chr17	3241365	3241365	A	G	exonic	OR1D4	.	unknown	UNKNOWN,	.	.	601	918	0	3	0	6	0.00325733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	.	.	.	.	.	.	.	.	0.0033426	87	26028	rs139589161	0.0008	0.0009	0.0007	0.0009	0.0030	0.0007	0.0007	0.0027	0.0026	0.0005	0.0012	0.0006	0.0030	0.0004	0.0017	0.0004	0.0023	0.0030	0.0015	0.0026	0.0016	0.0014	0.0052	0.0013	0.0013	0.0037	0.0032	0.0016	0	0.0032	0.0004	0.0052	0	0.0044	0.0009	0.0039	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.06667	356.84	622	chr17	3241365	.	A	G	356.84	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-1.586e+00;DP=622;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.7878;MLEAC=1;MLEAF=0.033;MQ=34.12;MQRankSum=-1.707e+00;QD=23.79;ReadPosRankSum=-1.160e+00;SOR=2.584	GT:AD:DP:GQ:PL	1/1:1,14:15:3:371,3,0	14	1	0	6
chr17	4555303	4555303	G	A	exonic	MYBBP1A	.	stopgain	MYBBP1A:NM_001105538:exon1:c.C22T:p.Q8X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	.	.	.	.	0.022	N	0.000	P	.	.	.	.	.	.	.	.	.	8.483	40	4.08	1.325	0.812	13.597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021789	0.26762	N	0.340848	1.08505e-31	0.81001	P	.	.	.	.	.	.	.	.	.	0.584	0.60495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399883	0.89908	D	0.336628	0.89781	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	6.359783	0.95079	34	0.99709785534523143	0.81213	0.14346	0.18354	N	AEFGBHCIJ	0.025419	0.01737	N	0.141900574364266	0.48429	3.055294	-0.202917210802255	0.31431	1.778749	0.999999999999997	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.08	4.08	0.46880	0.383000	0.20381	1.287000	0.25388	-2.041000	0.00424	0.000000	0.06391	0.002000	0.18203	0.000000	0.00833	0.0:0.842:0.158:0.0	13.597	0.61460	744	0.52588	.;.	.	.	.	.	.	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	0.2143	13068.37	44	chr17	4555303	.	G	C,A	13068.37	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-5.810e-01;DP=1414;ExcessHet=0.0874;FS=0.000;InbreedingCoeff=0.2929;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=16.27;ReadPosRankSum=0.432;SOR=0.738	GT:AD:DP:GQ:PL	0/1:54,84,0:138:99:1900,0,1150,2062,1401,3463	14	2	4	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	0/2:27,0,76:103:99:.:.:2264,2458,3331,0,408,404	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	0/1:27,76,0:103:99:.:.:2264,0,404,2458,408,3331	0	10	6	1
chr17	4990246	4990246	G	A	exonic	INCA1	.	stopgain	INCA1:NM_001167985:exon4:c.C64T:p.R22X	.	.	432	1066	23	1	0	25	0.0115902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.001	N	1.000	A	.	.	.	.	.	.	.	.	.	8.066	40	4.37	2.723	2.363	12.746	.	.	0.0016	0.000399361	0.0021	0.0004	0.0006	0	0	0.0032	0.0045	0.0018	0.0018887	292	154602	rs149206445	0.0016	0.0016	0.0014	0.0017	0.0043	0.0015	0.0015	0.0030	0.0026	0.0001	0.0008	0.0432	0	7.491e-05	0.0043	0.0006	0.0041	0.0021	0.0017	0.0017	0.0018	0.0016	0.0027	0.0015	0.0015	0.0016	0.0013	0.0002	0	0.0009	0.0439	0	9.429e-05	0.0034	0.0009	0.0043	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	0.001109	0.40219	N	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.319	0.38950	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264431	0.79938	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive;Recessive	.;.;High;High	8.892603	0.98170	39	0.99601299692398826	0.74219	0.75325	0.36875	D	AEFDGBI	0.106746	0.21289	N	0.772409359333503	0.84354	8.264534	0.622320849957029	0.76565	6.514363	0.999999447789297	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.636168	0.56350	0	.	.	4.37	4.37	0.51830	2.384000	0.44017	6.006000	0.52567	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	12.746	0.56658	557	0.71576	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1075.98	46	chr17	4990246	.	G	A	1075.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.54;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.62;ReadPosRankSum=-5.250e-01;SOR=0.756	GT:AD:DP:GQ:PL	0/1:40,39:79:99:1090,0,996	20	0	1	0
chr17	5388928	5388928	A	G	exonic	NUP88	.	nonsynonymous SNV	NUP88:NM_001320653:exon11:c.T1517C:p.L506P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	1.0	D	1.0	D	0.000	D	1.000	D	2.28	M	.	.	-0.319	T	0.413	T	0.872	4.192	21.7	5.23	2.333	7.630	14.759	0.476	0.103153819064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	2.34	0.67151	M	0.81	0.48460	T	.	.	.	0.872	0.86941	-0.3191	0.74447	T	0.413	0.76088	T	9	0.91229177	0.90593	D	0.103154	0.77704	D	.	.	0.775	0.90080	0.858999212624	0.85763	0.8122715505879089	0.81183	0.621333727136	0.56425	0.673113703728	0.63281	T	0.079613	0.36170	T	0.239633	0.77626	D	0.10644	0.77336	D	0.986703562440347	0.77357	D	0.839116	0.51273	T	0.7441625	0.80531	0.80520785	0.88596	0.7441625	0.80533	0.80520785	0.88597	-2.846	0.08615	T	0.8538072349835241	0.91923	0.513	0.65158	A	.	.	4.792699	0.77791	26.8	0.99919340282363955	0.98654	0.96194	0.67967	D	AEFBCI	0.932942	0.92407	D	0.717742083199762	0.80794	7.374214	0.688584955176983	0.81512	7.543958	0.999613958111377	0.40981	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.23	5.23	0.72570	7.674000	0.83146	11.230000	0.90066	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	14.759	0.69210	480	0.77422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	797.98	34	chr17	5388928	.	A	G	797.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.480e-01;DP=759;ExcessHet=0.0000;FS=3.019;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.85;ReadPosRankSum=-2.216e+00;SOR=1.058	GT:AD:DP:GQ:PL	0/1:47,34:81:99:812,0,1203	20	0	1	0
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.554	P	0.802	P	0.001	D	0.604	N	2.585	M	3.56	T	-1.117	T	0.046	T	0.639	4.235	22.0	2.75	0.471	1.653	10.030	0.254	0.0148905317491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	0.0001	2.726e-06	2.755e-06	3.602e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.554	0.38213	P	0.802	0.58266	P	0.000902	0.41128	D	0.246339	0.603536	0.30920	N	3.065	0.87014	M	3.56	0.04696	T	-2.86	0.60188	D	0.591	0.61087	-1.1171	0.02524	T	0.046	0.19879	T	10	0.87548256	0.86836	D	0.014891	0.35296	T	0.254	0.56428	0.784	0.90768	0.246773566709	0.24272	0.5436249433425214	0.54288	0.388407156696	0.40106	0.465720266104	0.34094	T	0.063408	0.32168	T	-0.0577574	0.43257	T	-0.320741	0.42493	T	0.98490309715271	0.76061	D	0.841416	0.51702	T	0.3524521	0.57257	0.4248366	0.66311	0.3524521	0.57257	0.4248366	0.66311	-7.213	0.55575	T	.	.	0.280	0.51350	B	.	.	3.041864	0.40780	21.2	0.99569122627841022	0.72258	0.87246	0.46727	D	AEFDBHCI	0.189729	0.31698	N	0.250775222256954	0.53677	3.535585	0.210393057645656	0.50423	3.234527	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3235	3330.64	69	chr17	6800775	.	C	G,T	3330.64	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-2.445e+00;DP=2964;ExcessHet=7.7275;FS=201.373;InbreedingCoeff=-0.4528;MLEAC=11,1;MLEAF=0.324,0.029;MQ=60.00;MQRankSum=0.00;QD=2.01;ReadPosRankSum=1.28;SOR=12.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:142,37,0:179:99:.:.:144,0,4504,569,4607,5176	6	0	10	4
chr17	6800775	6800775	C	T	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021A:p.V341I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.112	B	0.341	B	0.001	N	0.837	N	1.89	L	3.53	T	-1.084	T	0.031	T	0.091	3.174	16.62	2.75	0.471	1.653	10.030	0.067	0.00715835594955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.081	0.41742	T	0.112	0.26290	B	0.341	0.42432	B	0.000902	0.41128	N	0.246339	0.836835	0.28685	N	2.085	0.57729	M	3.53	0.04852	T	-0.93	0.24898	N	0.185	0.20129	-1.0839	0.06609	T	0.031	0.13199	T	10	0.22078857	0.38785	T	0.007158	0.18979	T	0.067	0.19503	0.712	0.84781	0.148003135375	0.14442	0.3112784524375874	0.31040	0.154972287805	0.17502	0.400090247393	0.25082	T	0.025988	0.19322	T	-0.29632	0.09012	T	-0.663419	0.08038	T	0.66377192735672	0.39061	D	0.726327	0.34071	T	0.10866317	0.25691	0.13250326	0.31794	0.10866317	0.25691	0.13250326	0.31794	-5.762	0.44242	T	.	.	0.090	0.12512	B	.	.	2.315459	0.29642	18.19	0.99362639271959785	0.61071	0.80189	0.39893	D	AEFDBHCI	0.113020	0.22317	N	-0.0799309812297689	0.38272	2.239086	-0.0159644293184332	0.38992	2.305383	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3235	3330.64	69	chr17	6800775	.	C	G,T	3330.64	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-2.445e+00;DP=2964;ExcessHet=7.7275;FS=201.373;InbreedingCoeff=-0.4528;MLEAC=11,1;MLEAF=0.324,0.029;MQ=60.00;MQRankSum=0.00;QD=2.01;ReadPosRankSum=1.28;SOR=12.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:142,37,0:179:99:.:.:144,0,4504,569,4607,5176	6	0	10	4
chr17	7846865	7846865	-	ACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACC:p.P264_L265insPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,53,0,3,0,0:56:41:2575,176,0,2432,176,2375,2142,41,2112,2044,2432,176,2375,2112,2375,2432,176,2375,2112,2375,2375	0	14	0	0
chr17	7846865	7846865	-	ACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACC:p.P264_L265insPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,53,0,3,0,0:56:41:2575,176,0,2432,176,2375,2142,41,2112,2044,2432,176,2375,2112,2375,2432,176,2375,2112,2375,2375	0	14	0	0
chr17	7846865	7846865	-	ACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACC:p.P264_L265insP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,53,0,3,0,0:56:41:2575,176,0,2432,176,2375,2142,41,2112,2044,2432,176,2375,2112,2375,2432,176,2375,2112,2375,2375	0	14	0	0
chr17	7846865	7846865	-	ACCACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACCACC:p.P264_L265insPPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,53,0,3,0,0:56:41:2575,176,0,2432,176,2375,2142,41,2112,2044,2432,176,2375,2112,2375,2432,176,2375,2112,2375,2375	0	14	0	0
chr17	7848213	7848213	C	T	exonic	KDM6B	.	nonsynonymous SNV	KDM6B:NM_001080424:exon11:c.C1925T:p.P642L	.	.	2	1485	35	0	0	35	0.0116473	.	.	727478	not_provided|KDM6B-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.011	B	0.006	B	0.014	N	0.781	N	0	N	3.06	T	-1.054	T	0.009	T	0.191	0.501	6.719	2.3	1.207	0.486	8.848	0.027	0.0122692025913	0.0014	0.00199681	0.0040	0.0007	0.0027	0	0.0015	0.0040	0.0072	0.0090	0.0034023	526	154602	rs201403136	0.0032	0.0032	0.0028	0.0035	0.0225	0.0031	0.0031	0.0193	0.0181	0.0011	0.0037	0.0042	2.52e-05	0.0012	0.0225	0.0028	0.0039	0.0094	0.0024	0.0024	0.0023	0.0025	0.0070	0.0022	0.0021	0.0052	0.0045	0.0006	0	0.0041	0.0017	0	0.0011	0.0136	0.0032	0.0047	0.0070	0.008	0.58626	D	0.052	0.47581	T	0.011	0.15914	B	0.006	0.12133	B	0.014159	0.28619	N	0.167892	0.78132	0.29329	N	0.695	0.17993	N	3.06	0.08634	T	0.2	0.04861	N	0.425	0.46462	-1.0545	0.13172	T	0.009	0.03054	T	10	0.006236732	0.00141	T	0.012269	0.30692	T	0.027	0.05988	.	.	0.0675242888579	0.06100	0.08653723565156672	0.08587	0.118197512317	0.13304	0.632191002369	0.57456	T	0.031785	0.22196	T	-0.587814	0.00173	T	-0.607735	0.12170	T	0.0184087385586059	0.00558	T	0.771423	0.40183	T	0.048999906	0.08630	0.045552824	0.06155	0.048999906	0.08629	0.045552824	0.06154	-4.027	0.24400	T	.	.	0.081	0.08368	B	.;.	.;.	3.442409	0.47899	22.5	0.87137345976141634	0.17014	0.31585	0.24374	N	AEFBI	0.041873	0.06423	N	-0.538434308523512	0.20849	1.102105	-0.402144809770401	0.24934	1.368259	0.120488630458847	0.16869	0.615465	0.37627	0	0.577304	0.33150	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.52	2.3	0.27735	1.460000	0.34855	3.492000	0.38721	0.549000	0.26987	0.895000	0.31310	0.999000	0.35428	0.999000	0.91618	0.1505:0.6005:0.249:0.0	8.848	0.34342	298	0.88068	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	677.98	28	chr17	7848213	.	C	T	677.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.000e-02;DP=599;ExcessHet=0.0000;FS=7.090;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.54;ReadPosRankSum=1.92;SOR=0.160	GT:AD:DP:GQ:PL	0/1:15,26:41:99:692,0,347	20	0	1	0
chr17	10460243	10460243	A	T	exonic	MYH4	.	nonsynonymous SNV	MYH4:NM_017533:exon13:c.T1226A:p.V409D,	.	.	2	1503	17	0	0	17	0.00562355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.005	U	1.000	D	4.175	H	-2.37	D	1.052	D	0.894	D	0.983	4.677	25.8	5.56	2.249	9.275	16.012	0.913	0.100397731126	.	0.000998403	0.0007	0	0.0003	0.0001	0	0.0002	0	0.0039	0.0006468	100	154602	rs142060534	0.0004	0.0004	0.0002	0.0005	0.0052	0.0003	0.0003	0.0037	0.0033	2.987e-05	0.0005	0	5.038e-05	0	0.0052	0.0001	0.0006	0.0036	0.0003	0.0003	0.0002	0.0005	0.0056	0.0002	0.0002	0.0040	0.0034	4.812e-05	0	0.0001	0	0	0	0.0034	0.0002	0	0.0056	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.004526	0.33648	U	0.000000	1	0.81001	D	3.22	0.89398	M	-2.37	0.88220	D	-5.81	0.88224	D	0.905	0.90590	1.052	0.98161	D	0.894	0.96478	D	10	0.12687308	0.24123	T	0.100398	0.77265	D	0.913	0.97700	0.86	0.95774	0.988864112231	0.98873	0.7519259962234865	0.75139	0.89452390681	0.70386	0.81251937151	0.83878	D	0.842181	0.96329	D	0.134241	0.67772	D	0.417946	0.92677	D	0.143717803468275	0.16591	T	0.980002	0.93225	D	0.7806963	0.82696	0.8324899	0.90347	0.7806963	0.82698	0.8324899	0.90348	-15.54	0.96988	D	.	.	0.999	0.98051	P	.	.	4.819828	0.78497	26.9	0.98655102163559216	0.44247	0.96378	0.68846	D	ALL	0.922753	0.89818	D	1.03534693194306	0.96731	15.06908	0.930012989068574	0.96754	15.09935	0.999999999396776	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.56	5.56	0.83678	9.265000	0.94799	11.196000	0.88846	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	1.0:0.0:0.0:0.0	16.012	0.80209	105	0.95676	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2520.98	38	chr17	10460243	.	A	T	2520.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.17;DP=976;ExcessHet=0.0000;FS=3.632;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=-1.561e+00;SOR=0.988	GT:AD:DP:GQ:PL	0/1:96,91:187:99:2535,0,2601	20	0	1	0
chr17	11617570	11617570	C	G	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon5:c.C1064G:p.P355R,	.	.	.	.	.	.	.	.	.	.	.	1555540	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.977	D	0.000	D	1.000	D	2.83	M	0.49	T	-0.145	T	0.419	T	0.835	4.793	27.0	5.91	2.802	7.666	19.893	0.547	0.0462906062731	.	0.000798722	0.0004	0	0	0	0	0	0	0.0026	0.000304	47	154602	rs373491778	0.0001	0.0001	6.398e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0	1.799e-06	4.967e-05	0.0023	5.912e-05	6.562e-05	5.14e-05	6.718e-05	0.0019	3.076e-05	2.209e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.006	0.61437	D	.	.	.	0.998	0.73220	D	0.977	0.73820	D	0.000134	0.49741	D	0.135690	1	0.81001	D	3.535	0.93119	H	0.49	0.55775	T	-6.04	0.90937	D	0.858	0.85449	-0.1453	0.79033	T	0.419	0.76482	T	10	0.1997667	0.35997	T	0.046291	0.62391	D	0.547	0.81193	0.738	0.87063	0.863037594452	0.86170	0.29343898617864617	0.29256	0.482320934166	0.47191	0.537154495716	0.44043	T	0.11449	0.43235	T	-0.0912911	0.37863	T	0.0911635	0.76324	D	0.637421488761902	0.37928	D	0.743726	0.36333	T	0.7672804	0.81885	0.6994507	0.82295	0.7672804	0.81886	0.6994507	0.82296	-3.279	0.13467	T	.	.	0.166	0.36653	B	.;.	.;.	4.337643	0.66520	25.0	0.99862667921498782	0.94093	0.97343	0.74151	D	AEFBCI	0.930083	0.91683	D	0.926545198419945	0.92999	11.758	0.889116323879491	0.95081	13.294	0.999999993979433	0.74766	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	5.91	5.91	0.95240	7.753000	0.84029	4.021000	0.41251	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.682000	0.33600	0.0:1.0:0.0:0.0	19.893	0.96937	698	0.58074	Dynein heavy chain, domain-1;Dynein heavy chain, domain-1	.	.	.	.	.	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	656.98	38	chr17	11617570	.	C	G	656.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.640e-01;DP=800;ExcessHet=0.0000;FS=0.768;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.81;ReadPosRankSum=1.24;SOR=0.563	GT:AD:DP:GQ:PL	0/1:78,35:113:99:671,0,1893	20	0	1	0
chr17	11669491	11669491	A	G	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon17:c.A3050G:p.Y1017C,	.	YES	419	1099	4	0	0	4	0.00181653	.	.	703956	not_provided|DNAH9-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.981	D	0.827	P	0.000	D	1.000	D	1.935	M	1.8	T	-1.099	T	0.044	T	0.738	1.939	12.44	3.7	0.817	3.285	11.007	0.286	.	0.0003	0.00599042	0.0056	0.0007	0.0555	0	0	0.0002	0.0011	0.0006	0.0052328	809	154602	rs139596704	0.0017	0.0017	0.0020	0.0015	0.0507	0.0017	0.0017	0.0489	0.0482	0.0003	0.0507	3.826e-05	0	0	0.0014	0.0001	0.0015	0.0006	0.0028	0.0029	0.0028	0.0029	0.0249	0.0026	0.0025	0.0228	0.0220	0.0006	0	0.0249	0	0	0	0	0.0003	0.0028	0.0006	0.0	0.91255	D	.	.	.	0.981	0.59675	D	0.827	0.59428	P	0.000050	0.53742	D	0.077308	0.999793	0.49177	D	2.93	0.84523	M	1.8	0.25996	T	-4.71	0.82700	D	0.531	0.56317	-1.0993	0.04177	T	0.044	0.18742	T	10	0.0051451027	0.00112	T	.	.	.	0.286	0.60456	.	.	0.734234264884	0.73186	0.6023714602692022	0.60168	0.397087255526	0.40806	0.481179028749	0.36219	T	0.123338	0.44763	T	-0.298047	0.08844	T	-0.161423	0.58224	T	0.0771547130699147	0.09619	T	0.973703	0.90499	D	0.6328966	0.74453	0.49605015	0.70857	0.5692652	0.71021	0.49605015	0.70857	-0.442	0.00549	T	.	.	0.184	0.39832	B	.;.	.;.	2.935804	0.39022	20.9	0.99454314351262907	0.65427	0.90844	0.52368	D	AEFBI	0.573575	0.57670	D	0.182505839674021	0.50359	3.226676	0.0560197701511414	0.42362	2.561061	0.752750981456619	0.23386	0.487112	0.14033	0	0.573888	0.26702	0	0.468601	0.07175	0	0.564101	0.26826	0	.	.	4.8	3.7	0.41607	3.333000	0.51806	5.120000	0.47580	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.014000	0.10232	0.8606:0.0:0.0:0.1394	11.007	0.46856	852	0.35056	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3269.98	33	chr17	11669491	.	A	G	3269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.591;DP=962;ExcessHet=0.0000;FS=1.051;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.93;ReadPosRankSum=-1.155e+00;SOR=0.805	GT:AD:DP:GQ:PL	0/1:95,124:219:99:3284,0,2341	20	0	1	0
chr17	15605266	15605266	C	T	exonic	CDRT1	.	nonsynonymous SNV	CDRT1:NM_001282540:exon7:c.G1390A:p.E464K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.775	P	0.306	B	0.991	N	1.000	D	0.39	N	2.25	T	-0.951	T	0.023	T	0.374	1.671	11.55	-0.242	0.157	0.555	5.302	0.111	0.0076998040079	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1346285155	1.808e-05	1.779e-05	2.21e-05	1.4e-05	2.173e-05	1.258e-05	1.069e-05	1.47e-05	1.235e-05	0	0	0	0	0	0	2.173e-05	3.37e-05	0	6.593e-06	6.568e-06	1.289e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.236	0.17940	T	0.365	0.28669	T	0.775	0.44108	P	0.306	0.41250	B	0.991332	0.08028	N	0.994614	0.943268	0.37403	D	1.29	0.32370	L	2.25	0.17761	T	-1.57	0.37955	N	0.185	0.27673	-0.9512	0.40765	T	0.023	0.09696	T	10	0.08662802	0.14744	T	0.008	0.20431	T	0.111	0.31313	0.566	0.68768	0.0297737177859	0.01360	0.32070747973461455	0.31983	.	.	0.415393352509	0.27201	T	0.002392	0.01788	T	-0.145955	0.28945	T	-0.44743	0.27981	T	0.661659002304077	0.38969	D	0.80142	0.44736	T	0.08320257	0.19204	0.17038177	0.39143	0.08320257	0.19204	0.17038177	0.39142	-6.806	0.52603	T	.	.	0.077	0.34250	B	.;.;.	.;.;.	1.784634	0.22686	15.72	0.99050810785070598	0.51253	0.46589	0.27793	N	AEFGI	0.075513	0.15165	N	-0.501115928739877	0.22044	1.174317	-0.445231833994344	0.23684	1.292904	4.70215296348651E-6	0.01202	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.68	-0.242	0.12396	0.589000	0.23640	0.020000	0.13575	0.539000	0.25131	0.995000	0.38783	0.002000	0.18203	0.958000	0.51230	0.0:0.4428:0.1461:0.4111	5.302	0.15095	782	0.47442	WD40-repeat-containing domain;WD40-repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1380.98	43	chr17	15605266	.	C	T	1380.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=752;ExcessHet=0.0000;FS=1.597;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=39.54;MQRankSum=-3.190e-01;QD=13.67;ReadPosRankSum=-8.090e-01;SOR=0.820	GT:AD:DP:GQ:PL	0/1:49,52:101:99:1395,0,1137	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	1/1:0,12,0:12:36:540,36,0,540,36,540	5	7	8	0
chr17	18120185	18120185	G	A	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon2:c.G1385A:p.G462D,	Deafness, autosomal recessive 3, Autosomal recessive	.	0	1496	26	0	0	26	0.00861498	.	.	230690	Autosomal_recessive_nonsyndromic_hearing_loss_3|not_provided|not_specified|MYO15A-related_disorder	MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.57	T	0.11	B	0.03	B	.	.	1.000	D	0.55	N	0.87	T	-1.093	T	0.042	T	0.738	2.911	15.70	4.43	1.270	4.652	8.725	0.137	0.00846079617299	0.0032	0.00199681	0.0036	0.0005	0.0047	0	0.0020	0.0048	0.0091	0.0019	0.0033958	525	154602	rs145292219	0.0036	0.0036	0.0036	0.0037	0.0135	0.0036	0.0035	0.0111	0.0102	0.0007	0.0043	0.0014	5.038e-05	0.0021	0.0135	0.0041	0.0035	0.0018	0.0033	0.0033	0.0030	0.0035	0.0061	0.0030	0.0029	0.0051	0.0047	0.0006	0	0.0061	0.0014	0	0.0046	0.0068	0.0044	0.0047	0.0017	0.086	0.32610	T	0.252	0.23570	T	0.11	0.26188	B	0.03	0.21741	B	.	.	.	.	0.649619	0.30545	N	1.495	0.37439	L	0.87	0.46412	T	-2.07	0.47344	N	0.453	0.56231	-1.0930	0.05051	T	0.042	0.18202	T	9	0.0044930875	0.00092	T	0.008461	0.22382	T	0.137	0.36984	.	.	0.465294738428	0.46155	0.5363742320479349	0.53562	.	.	0.619306981564	0.55631	T	0.031152	0.56248	T	-0.312222	0.07554	T	-0.220308	0.52708	T	0.00877049237361181	0.00108	T	0.711229	0.32236	T	0.13697459	0.31733	0.14230512	0.33858	0.11124209	0.26288	0.14297454	0.33994	-3.775	0.20432	T	.	.	0.499	0.64550	A	.;.;.	.;.;.	3.921901	0.57260	23.8	0.99655347948461648	0.77568	0.88578	0.48571	D	AEFDBCI	0.551489	0.56354	D	-0.229297224980632	0.31936	1.795857	-0.0328325519200769	0.38241	2.250257	0.0020970045356823	0.09151	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	5.4	4.43	0.52967	2.953000	0.48798	11.640000	0.93781	0.652000	0.53365	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0759:0.0:0.772:0.1521	8.725	0.33628	246	0.90367	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3114.98	34	chr17	18120185	.	G	A	3114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.062e+00;DP=985;ExcessHet=0.0000;FS=0.972;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.51;ReadPosRankSum=-7.270e-01;SOR=0.784	GT:AD:DP:GQ:PL	0/1:128,121:249:99:3129,0,3617	20	0	1	0
chr17	18232545	18232545	C	G	exonic	LLGL1	.	nonsynonymous SNV	LLGL1:NM_004140:exon3:c.C230G:p.T77S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.329	B	0.077	B	0.000	D	1.000	D	0.975	L	-0.08	T	-0.912	T	0.164	T	0.22	2.267	13.54	5.78	2.761	6.021	19.664	0.079	0.0176205719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.589	0.05826	T	0.538	0.09829	T	0.329	0.33227	B	0.077	0.28532	B	0.000008	0.62929	D	0.146783	0.999718	0.48481	D	1.69	0.43327	L	-0.08	0.63911	T	-0.32	0.12283	N	0.517	0.57006	-0.9116	0.46657	T	0.164	0.50144	T	10	0.40248084	0.55665	T	0.017621	0.39390	T	0.079	0.23065	0.444	0.50139	0.514969635325	0.51138	0.2259350553057138	0.22508	0.364426849662	0.38057	0.417051464319	0.27432	T	0.261202	0.63266	T	-0.0955629	0.37158	T	-0.375046	0.36300	T	0.53829962015152	0.34041	D	.	.	.	0.04728129	0.08055	0.09381683	0.22177	0.04728129	0.08055	0.09381683	0.22176	-2.106	0.03610	T	.	.	0.127	0.29367	B	.;.	.;.	3.311848	0.45507	22.1	0.96433267055411254	0.29803	0.99333	0.94632	D	AEFGBI	0.783363	0.71437	D	0.0488897201846647	0.44092	2.68958	0.23553730450005	0.51829	3.362304	0.999999999999429	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	6.125000	0.71359	7.641000	0.63200	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.0:1.0:0.0:0.0	19.664	0.95883	158	0.93861	.;.	.	.	.	.	.	Uncertain significance	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	1665.98	33	chr17	18232545	.	C	G	1665.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.514;DP=835;ExcessHet=0.0000;FS=2.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=0.469;SOR=0.459	GT:AD:DP:GQ:PL	0/1:64,62:126:99:1680,0,1867	20	0	1	0
chr17	21702822	21702822	C	G	exonic	KCNJ18	.	nonsynonymous SNV	KCNJ18:NM_001194958:exon3:c.C36G:p.I12M,	.	.	421	1098	2	0	1	3	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.922e-07	6.84e-07	0	1.391e-06	1.174e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.174e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.013	0.63109	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.997843	0.44246	D	.	.	.	0.95	0.43279	T	-1.02	0.26843	N	0.537	0.56489	-0.8491	0.52031	T	0.164	0.50160	T	10	0.44617262	0.58410	T	0.017537	0.39279	T	.	.	0.747	0.87821	0.0401082797425	0.02173	0.45422506767292903	0.45340	.	.	0.721853613853	0.70316	T	0.021819	0.16927	T	0.0174067	0.54031	T	-0.212773	0.53430	T	0.969568729400635	0.68634	D	0.957504	0.83996	D	0.55510294	0.70239	0.42062184	0.66020	0.55510294	0.70240	0.42062184	0.66020	-3.195	0.12419	T	.	.	0.102	0.17827	B	.	.	1.595425	0.20400	14.73	0.99156922988941709	0.53987	0.16552	0.19442	N	AEFDGBI	.	.	.	-0.247607825978624	0.31199	1.74703	-0.414024530730025	0.24586	1.347111	0.999997639400312	0.74766	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.33	-3.27	0.04735	-2.104000	0.01428	-6.389000	0.01412	0.122000	0.17641	0.002000	0.15269	0.000000	0.08366	0.027000	0.12703	0.1485:0.4536:0.0:0.398	6.993	0.23946	840	0.37365	Potassium channel, inwardly rectifying, Kir, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1636.98	33	chr17	21702822	.	C	G	1636.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.50;DP=904;ExcessHet=0.0000;FS=5.798;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=50.00;MQRankSum=0.487;QD=9.63;ReadPosRankSum=0.820;SOR=1.142	GT:AD:DP:GQ:PL	0/1:101,69:170:99:1651,0,2454	20	0	1	0
chr17	31318455	31318455	C	T	exonic	EVI2A	.	nonsynonymous SNV	EVI2A:NM_014210:exon2:c.G559A:p.G187S	.	.	434	1084	4	0	0	4	0.00184162	.	.	2743786	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.88	T	0.945	P	0.401	B	0.000	D	1.000	D	1.59	L	.	.	-0.974	T	0.085	T	0.343	3.589	18.28	5.71	2.688	3.511	8.376	0.186	0.00221487589611	0.0036	0.000998403	0.0032	0.0006	0.0020	0	0.0008	0.0044	0.0044	0.0031	0.0031177	482	154602	rs140933050	0.0044	0.0044	0.0045	0.0043	0.0052	0.0043	0.0043	0.0050	0.0050	0.0009	0.0013	3.827e-05	5.04e-05	0.0009	0.0031	0.0052	0.0034	0.0038	0.0027	0.0027	0.0028	0.0025	0.0046	0.0024	0.0024	0.0042	0.0040	0.0007	0.0110	0.0015	0	0	0	0.0068	0.0046	0.0047	0.0029	0.601	0.07187	T	0.329	0.22291	T	0.92	0.53279	P	0.401	0.44513	B	0.000032	0.55875	D	0.075402	1	0.81001	D	2.065	0.56745	M	.	.	.	0.3	0.04091	N	0.251	0.28381	-0.9740	0.36344	T	0.085	0.33213	T	9	0.011291891	0.00248	T	0.002215	0.04178	T	0.186	0.46104	.	.	0.149567049428	0.14543	0.1052482018265184	0.10454	0.184170319989	0.20708	0.534477293491	0.43664	T	0.005699	0.05149	T	-0.359577	0.04154	T	-0.285558	0.46232	T	0.0220123625858146	0.00910	T	0.544846	0.23175	T	0.07601338	0.17165	0.08526254	0.19673	0.07601338	0.17164	0.08526254	0.19672	-3.161	0.12010	T	.	.	0.166	0.44682	B	.;.;.;.	.;.;.;.	3.885830	0.56503	23.7	0.99743272409516015	0.83703	0.60362	0.31174	D	ALL	0.279661	0.39366	N	0.294980596914175	0.55894	3.75353	0.388529240826061	0.60856	4.27818	0.999999999999865	0.74766	0.666168	0.50170	0	0.504199	0.08210	0	0.005938	0.00136	3	0.421255	0.06892	1	.	.	5.71	5.71	0.89031	3.542000	0.53380	4.932000	0.46138	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.8342:0.0:0.1658	8.376	0.31604	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	2376.98	33	chr17	31318455	.	C	T	2376.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.22;DP=833;ExcessHet=0.0000;FS=2.995;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.39;ReadPosRankSum=-7.000e-01;SOR=0.969	GT:AD:DP:GQ:PL	0/1:62,83:145:99:2391,0,1474	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	0/1:45,59:104:99:699,0,598	0	0	21	0
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	0/1:63,13:86:16:16,0,1228	13	0	2	6
chr17	40400546	40400546	C	T	exonic	TOP2A	.	nonsynonymous SNV	TOP2A:NM_001067:exon22:c.G2782A:p.V928I,	DNA topoisomerase II, resistance to inhibition of, by amsacrine (3)	.	0	225	1	0	0	1	0.00221729	.	.	2218340	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.002	B	0.009	B	0.000	N	0.862	N	-0.3	N	1.96	T	-0.975	T	0.019	T	0.108	-0.559	1.473	-3.07	-0.802	0.532	14.945	0.133	0.0113989573575	0.0003	0.000199681	0.0002	0.0008	9.619e-05	0	0	0.0001	0	0.0002	0.0001358	21	154602	rs202231304	6.383e-05	6.567e-05	5.46e-05	7.317e-05	0.0011	5.312e-05	4.927e-05	0.0008	0.0007	0.0011	4.579e-05	0	2.521e-05	0	0	3.872e-05	0.0001	4.724e-05	0.0003	0.0003	0.0004	0.0003	0.0011	0.0003	0.0002	0.0008	0.0007	0.0011	0	0.0001	0	0	0	0	7.352e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.009	0.14300	B	0.000004	0.62929	N	0.104194	0.862428	0.28335	N	-0.19	0.04217	N	1.96	0.22270	T	-0.14	0.09135	N	0.155	0.16028	-0.9753	0.36059	T	0.019	0.07753	T	10	0.020258129	0.00464	T	0.011399	0.28987	T	0.133	0.36157	.	.	0.110392049598	0.10638	0.28594751588853756	0.28507	0.111816685233	0.12614	0.289070487022	0.08787	T	0.066946	0.33075	T	-0.587098	0.00175	T	-0.680857	0.06931	T	0.00389976298211592	0.00041	T	0.719228	0.33234	T	0.032806985	0.03377	0.047382593	0.06812	0.032806985	0.03377	0.047382593	0.06811	-6.219	0.48077	T	.	.	0.062	0.01309	B	.	.	0.063285	0.04735	1.365	0.5070557163344408	0.04431	0.21512	0.21428	N	AEFBI	0.082317	0.16667	N	-1.62646297693239	0.01138	0.04944178	-1.47892657587155	0.02517	0.1159242	0.276938493721111	0.18949	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	-3.07	0.05038	0.568000	0.23326	-1.848000	0.04617	-1.704000	0.00753	0.080000	0.22340	0.000000	0.08366	0.970000	0.54328	0.0:0.7148:0.0:0.2852	14.945	0.70675	309	0.87553	DNA topoisomerase, type IIA, subunit A/C-terminal|DNA topoisomerase, type IIA, subunit A/C-terminal|DNA topoisomerase, type IIA, subunit A/C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2195.98	36	chr17	40400546	.	C	T	2195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.242;DP=980;ExcessHet=0.0000;FS=0.590;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=0.221;SOR=0.783	GT:AD:DP:GQ:PL	0/1:72,87:159:99:2210,0,1708	20	0	1	0
chr17	40936332	40936332	C	T	exonic	KRT23	.	nonsynonymous SNV	KRT23:NM_015515:exon2:c.G272A:p.R91H,	.	.	42	1475	5	0	0	5	0.00169205	.	.	2377340	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.385	B	0.071	B	0.001	N	1.000	D	2.38	M	-2.92	D	0.128	D	0.674	D	0.245	2.943	15.81	2.68	0.358	2.189	8.797	0.406	0.0378184212957	0.0005	0.000199681	0.0005	0.0002	0.0002	0	0	0.0007	0	0.0002	0.0004722	73	154602	rs148131200	0.0004	0.0004	0.0004	0.0004	0.0028	0.0004	0.0004	0.0017	0.0014	0.0001	0.0005	0.0001	2.519e-05	3.744e-05	0.0028	0.0005	0.0004	0.0002	0.0003	0.0003	0.0004	0.0002	0.0006	0.0003	0.0002	0.0004	0.0004	0.0001	0	0.0001	0	0	0	0	0.0006	0.0005	0.0002	0.026	0.46910	D	0.056	0.46632	T	0.385	0.34473	B	0.071	0.27960	B	0.001104	0.40219	N	0.111526	0.999956	0.81001	D	1.885	0.50048	L	-2.92	0.91748	D	-4.01	0.74193	D	0.285	0.32259	0.128	0.84667	D	0.674	0.88699	D	10	0.13732234	0.26123	T	0.037818	0.57848	D	0.406	0.71869	.	.	0.751335196791	0.74908	0.700644812163503	0.70005	0.232336152672	0.25778	0.307789266109	0.11573	T	0.61497	0.89591	D	-0.244102	0.14829	T	-0.205196	0.54155	T	0.0233774756117635	0.01068	T	0.913609	0.69252	D	0.16692784	0.37059	0.1404538	0.33479	0.16692784	0.37059	0.1404538	0.33478	-3.699	0.19304	T	.	.	0.086	0.10449	B	.;.	.;.	2.227487	0.28431	17.79	0.99543074193736825	0.70648	0.91371	0.53399	D	AEFDBI	0.323279	0.42552	N	-0.13733700258467	0.35775	2.059221	-0.1273427995878	0.34292	1.97094	0.999698770295718	0.41870	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.73	2.68	0.30839	2.238000	0.42719	-1.462000	0.05385	0.599000	0.40250	0.960000	0.33603	0.000000	0.08366	0.998000	0.85391	0.0:0.6495:0.0:0.3505	8.797	0.34044	145	0.94217	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1760.98	33	chr17	40936332	.	C	T	1760.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=833;ExcessHet=0.0000;FS=4.305;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.98;ReadPosRankSum=2.37;SOR=1.098	GT:AD:DP:GQ:PL	0/1:58,68:126:99:1775,0,1323	20	0	1	0
chr17	41041286	41041286	G	0	exonic	KRTAP1-1	.	.	.	.	.	423	643	441	0	15	456	0.255356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	3885.87	242	chr17	41041286	.	G	T,*	3885.87	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=2.73;DP=3812;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=10,1;MLEAF=0.238,0.024;MQ=59.30;MQRankSum=-1.165e+01;QD=1.29;ReadPosRankSum=4.68;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:237,27,0:264:99:0|1:41041286_G_T:420,0,9702,1134,9783,10917:41041286	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|2:241,0,45:286:99:0|1:41041286_G_T:440,1165,11105,0,9940,9836:41041286	10	0	1	1
chr17	41041341	41041341	G	0	exonic	KRTAP1-1;KRTAP9-7	.	.	.	.	.	423	805	280	0	14	294	0.148148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	2496.32	253	chr17	41041341	.	G	T,*	2496.32	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=0.535;DP=3198;ExcessHet=3.5521;FS=0.766;InbreedingCoeff=-0.2364;MLEAC=7,1;MLEAF=0.167,0.024;MQ=59.31;MQRankSum=-1.146e+01;QD=1.14;ReadPosRankSum=-1.843e+00;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:261,26,0:287:99:0|1:41041341_G_T:221,0,10457,1006,10535,11541:41041341	13	0	7	0
chr17	41041366	41041366	A	0	exonic	KRTAP1-1	.	.	.	.	.	420	996	92	0	14	106	0.0441459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	1230.28	61	chr17	41041366	.	A	T,*	1230.28	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-9.070e-01;DP=2214;ExcessHet=1.1607;FS=0.710;InbreedingCoeff=-0.1351;MLEAC=4,1;MLEAF=0.095,0.024;MQ=59.30;MQRankSum=-1.005e+01;QD=1.00;ReadPosRankSum=-4.637e+00;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:254,23,0:277:99:0|1:41041341_G_T:161,0,10570,925,10639,11564:41041341	16	0	4	0
chr17	41255418	41255418	-	ACATGCTGCAGGACC	exonic	KRTAP9-9	.	nonframeshift insertion	KRTAP9-9:NM_030975:exon1:c.33_34insACATGCTGCAGGACC:p.C18_W19insCRTTC,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0003	0.0004	0	0.0002	0	0.0016	.	.	.	.	0.0001	0.0001	0.0001	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	0	9.887e-05	0	0.0006	0	0.0003	9.047e-05	0.0002	0.0006	0.0003	0.0002	0.0002	0.0004	0.0009	0.0002	0.0002	0.0003	0.0003	9.301e-05	0	0	0	0	0	0	0.0006	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	31242.72	98	chr17	41255418	.	T	TACCTGCTGCAGGACC,TACATGCTGCAGGACC	31242.72	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=2.14;DP=2539;ExcessHet=0.0001;FS=5.599;InbreedingCoeff=0.7311;MLEAC=26,1;MLEAF=0.619,0.024;MQ=52.57;MQRankSum=-1.273e+00;QD=33.81;ReadPosRankSum=-3.744e+00;SOR=1.018	GT:AD:DP:GQ:PL	0/1:15,24,0:39:70:798,0,70,1637,916,6979	6	11	3	0
chr17	41382308	41382308	A	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.T65C:p.L22P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.976	D	0.556	P	.	.	0.999	D	0	N	.	.	-1.043	T	0.078	T	0.65	0.858	8.471	5.17	2.241	1.916	5.942	0.134	0.018428726593	.	.	8.238e-06	0	0	0	0	0	0.0011	0	7.76e-05	12	154602	rs756013781	5.481e-06	0.0003	8.182e-06	2.754e-06	2.236e-05	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.403e-06	1.659e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.003	0.76473	D	0.976	0.58310	D	0.556	0.49411	P	.	.	.	.	0.999455	0.47118	D	1.245	0.31408	L	-1.89	0.84557	D	.	.	.	0.669	0.67736	-1.0427	0.16503	T	0.078	0.31042	T	8	0.66327584	0.70279	D	0.018429	0.40491	T	.	.	0.428	0.47515	0.761221526906	0.75905	0.03657958571385173	0.03604	0.342438391368	0.36184	0.435077399015	0.29903	T	0.021796	0.16915	T	0.121469	0.66520	D	-0.0632948	0.66101	T	0.91840136051178	0.57665	D	0.333767	0.07077	T	0.1847125	0.39799	0.32490122	0.58410	0.1847125	0.39799	0.32490122	0.58410	-3.974	0.23413	T	.	.	0.079	0.07130	B	.	.	1.715876	0.21849	15.37	0.98901740872576172	0.48199	0.67040	0.33290	D	AEFDBCI	0.211856	0.33761	N	0.136755772330337	0.48185	3.034055	0.188891208117852	0.49238	3.129369	0.733449985707655	0.23090	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	5.17	0.70848	1.869000	0.39156	2.221000	0.31450	0.660000	0.55035	0.999000	0.42656	1.000000	0.68203	0.332000	0.25247	0.7462:0.1678:0.086:0.0	5.942	0.18435	167	0.93508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	515.5	33	chr17	41382308	.	A	G	515.5	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.707e+00;DP=1692;ExcessHet=2.5830;FS=114.231;InbreedingCoeff=-0.1984;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.52;ReadPosRankSum=0.774;SOR=10.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:112,25:137:99:.:.:219,0,4054	14	0	7	0
chr17	41382311	41382311	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62C:p.R21T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.049	B	0.026	B	.	.	0.998	N	0	N	.	.	-1.026	T	0.039	T	0.473	0.716	7.813	-0.174	0.122	-0.215	4.436	0.084	0.00843288255634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.114e-05	0.0014	3.86e-05	2.362e-05	3.828e-05	2.374e-05	2.119e-05	2.866e-05	2.541e-05	0	0	3.836e-05	2.523e-05	0	0	3.828e-05	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.28764	T	0.049	0.22227	B	0.026	0.20792	B	.	.	.	.	0.997716	0.22540	N	0.755	0.19153	N	-1.61	0.82254	D	.	.	.	0.508	0.53972	-1.0258	0.21821	T	0.039	0.16892	T	8	0.18996203	0.34618	T	0.008433	0.22307	T	.	.	0.37	0.38013	0.612421581757	0.60929	0.08565298375764323	0.08499	0.0546681382285	0.06050	0.306222051382	0.11336	T	0.02167	0.16835	T	-0.00440713	0.51045	T	-0.244107	0.50396	T	0.0275842688571556	0.01628	T	0.50295	0.15803	T	0.07200823	0.15984	0.06444694	0.12916	0.07200823	0.15984	0.06444694	0.12916	-3.403	0.15097	T	.	.	0.119	0.24294	B	.	.	1.042832	0.14237	10.81	0.88324392343806579	0.17887	0.65189	0.32654	D	AEFDBCI	0.111491	0.22072	N	-0.660458155333548	0.17157	0.8804225	-0.554068222297903	0.20697	1.116332	0.0465120987434442	0.14694	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	-0.174	0.12665	0.036000	0.13706	-0.541000	0.08582	0.596000	0.33519	0.869000	0.30776	0.000000	0.08366	0.387000	0.26492	0.1565:0.3623:0.0:0.4812	4.436	0.10975	167	0.93508	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	438.29	101	chr17	41382311	.	C	G,T	438.29	.	AC=5,2;AF=0.119,0.048;AN=42;BaseQRankSum=-4.980e+00;DP=1764;ExcessHet=2.5830;FS=106.599;InbreedingCoeff=-0.1982;MLEAC=5,2;MLEAF=0.119,0.048;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.860;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:113,4,9:126:99:.:.:179,123,4223,0,4142,4351	14	0	5	0
chr17	41382311	41382311	C	T	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62A:p.R21K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.0	B	0.001	B	.	.	1.000	N	0	N	.	.	-1.031	T	0.039	T	0.176	1.278	10.17	-0.174	0.122	-0.215	4.436	0.072	0.00559261676492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.27235	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999663	0.20745	N	1.1	0.28011	L	-1.55	0.81727	D	.	.	.	0.199	0.21969	-1.0308	0.20195	T	0.039	0.16935	T	8	0.08334431	0.13855	T	0.005593	0.14439	T	.	.	0.293	0.25560	0.657325010897	0.65446	0.07906609140832596	0.07841	0.0402348126993	0.04305	0.306056171656	0.11311	T	0.021002	0.16432	T	-0.119232	0.33249	T	-0.409045	0.32335	T	0.0497427848752955	0.05455	T	0.382662	0.09313	T	0.069265865	0.15160	0.074363045	0.16259	0.069265865	0.15160	0.074363045	0.16259	-2.912	0.09264	T	.	.	0.091	0.13080	B	.	.	1.087164	0.14705	11.26	0.93968684478021924	0.24041	0.45317	0.27512	N	AEFDBCI	0.063292	0.12223	N	-0.668850020287515	0.16912	0.8658866	-0.557939429380533	0.20595	1.110326	0.0465120987434442	0.14694	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	-0.174	0.12665	0.036000	0.13706	-0.541000	0.08582	0.596000	0.33519	0.869000	0.30776	0.000000	0.08366	0.387000	0.26492	0.1565:0.3623:0.0:0.4812	4.436	0.10975	167	0.93508	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	438.29	101	chr17	41382311	.	C	G,T	438.29	.	AC=5,2;AF=0.119,0.048;AN=42;BaseQRankSum=-4.980e+00;DP=1764;ExcessHet=2.5830;FS=106.599;InbreedingCoeff=-0.1982;MLEAC=5,2;MLEAF=0.119,0.048;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.860;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:113,4,9:126:99:.:.:179,123,4223,0,4142,4351	14	0	5	0
chr17	41466178	41466178	-	TG	splicing	KRT32	NM_002278:exon2:c.469-2->CA	.	.	.	.	416	1102	4	0	0	4	0.00181159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0002	0	8.649e-05	0	0	0.0003	0	6.067e-05	0.0001617	25	154602	rs779155080	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0005	0.0003	2.987e-05	0.0003	0.0001	0	0	0.0010	0.0003	0.0001	4.638e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.705e-05	0.0002	0.0002	7.244e-05	0	6.545e-05	0	0	0	0	0.0003	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2529.94	38	chr17	41466178	.	T	TTG	2529.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=878;ExcessHet=0.0000;FS=0.760;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.21;ReadPosRankSum=-3.230e-01;SOR=0.853	GT:AD:DP:GQ:PL	0/1:45,64:109:99:2544,0,1676	20	0	1	0
chr17	42798090	42798090	G	C	exonic	COA3	.	nonsynonymous SNV	COA3:NM_001040431:exon2:c.C292G:p.R98G,	.	.	425	1096	1	0	0	1	0.000455996	.	.	1933661	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.911	P	0.592	P	0.003	N	0.926	D	1.39	L	.	.	-0.814	T	0.172	T	0.345	3.453	17.70	4.27	2.937	2.163	13.862	0.131	0.00588329265628	0.0002	.	0.0002	0	0	0.0001	0	0.0004	0	0	0.0001682	26	154602	rs150778923	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0005	0.0003	0	0.0002	0.0006	0	0	0.0010	0.0003	0.0002	3.478e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	2.407e-05	0	0.0003	0.0003	0	0	0	0.0004	0.0005	0.0004	0.022	0.48642	D	0.066	0.44501	T	0.911	0.50336	P	0.592	0.50503	P	0.002998	0.35606	N	0.236065	0.92638	0.36833	D	2.125	0.59049	M	.	.	.	-1.33	0.33197	N	0.234	0.26354	-0.8142	0.54294	T	0.172	0.51325	T	9	0.15910798	0.29904	T	0.005883	0.15310	T	0.131	0.35738	.	.	0.712887574675	0.71037	0.5184929293862941	0.51772	0.792395878922	0.65867	0.522391080856	0.41963	T	0.052819	0.29268	T	-0.260939	0.12791	T	-0.310876	0.43564	T	0.0755666494369507	0.09410	T	0.751925	0.37414	T	0.18116775	0.39273	0.18400858	0.41427	0.22362012	0.44986	0.21599464	0.46209	-5.705	0.43738	T	.	.	0.226	0.45810	B	.	.	3.778953	0.54322	23.5	0.99295156952163643	0.58397	0.91932	0.54576	D	AEFDGBCI	0.575779	0.57803	D	0.429385649275836	0.63045	4.530844	0.46464733892241	0.65664	4.852302	0.999999964577059	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.31	4.27	0.50009	1.740000	0.37852	4.713000	0.44466	0.654000	0.53741	0.997000	0.40164	1.000000	0.68203	0.949000	0.49496	0.0:0.0:0.7588:0.2412	13.862	0.63067	240	0.90628	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1350.98	36	chr17	42798090	.	G	C	1350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.845;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=-8.050e-01;SOR=0.699	GT:AD:DP:GQ:PL	0/1:64,58:122:99:1365,0,1467	20	0	1	0
chr17	43209576	43209576	C	T	exonic	NBR1	.	nonsynonymous SNV	NBR1:NM_001291571:exon21:c.C2747T:p.S916L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	1.000	N	.	.	.	.	-1.001	T	0.077	T	.	0.422	6.290	0.668	0.179	-0.690	6.907	0.099	0.00247799293091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.892e-06	2.736e-06	0	5.862e-06	5.049e-05	6.8e-07	4.6e-07	1.678e-05	9.94e-06	0	0	0	0	0	0	0	0	5.049e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	0.89	0.45636	T	.	.	.	0.231	0.25989	-1.0011	0.29602	T	0.077	0.30828	T	7	0.083803385	0.13980	T	0.002478	0.04925	T	.	.	0.34	0.33141	0.177238962908	0.17366	.	.	.	.	.	.	.	.	.	.	-0.208605	0.19577	T	-0.537423	0.18551	T	0.0225476848085301	0.00970	T	0.474053	0.14146	T	.	.	.	.	.	.	.	.	-2.953	0.09684	T	.	.	0.104	0.18705	B	.	.	0.197311	0.05827	2.267	0.68196843098406135	0.08585	0.03259	0.08291	N	AEFBI	0.040444	0.06017	N	-0.901074322236357	0.10816	0.5188141	-0.995857017767948	0.09878	0.4940473	4.44860287574638E-4	0.07004	0.475973	0.10046	0	0.601575	0.49859	0	0.463624	0.06942	0	0.221012	0.04332	2	.	.	3.12	0.668	0.17081	-0.683000	0.05280	-0.427000	0.09246	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0:0.7932:0.0:0.2068	6.907	0.23497	505	0.75648	.	.	.	.	.	.	Uncertain significance	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	0.375	945.77	54	chr17	43209576	.	C	T,G	945.77	.	AC=4,2;AF=0.250,0.125;AN=16;BaseQRankSum=-2.204e+00;DP=843;ExcessHet=1.7912;FS=369.161;InbreedingCoeff=-0.4233;MLEAC=7,3;MLEAF=0.438,0.188;MQ=60.00;MQRankSum=0.00;QD=2.89;ReadPosRankSum=0.771;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:41,0,19:60:99:0|1:43209576_C_G:144,265,1433,0,1167,1115:43209576	2	0	4	13
chr17	43209576	43209576	C	G	exonic	NBR1	.	stopgain	NBR1:NM_001291571:exon21:c.C2747G:p.S916X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	0.966	N	.	.	.	.	.	.	.	.	.	0.298	5.615	0.668	0.179	-0.690	6.907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.983113	0.39974	D	.	.	.	.	.	.	.	.	.	0.119	0.10911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.411962	0.01929	T	-0.829532	0.01270	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115114	0.05136	1.662	0.67607967295508664	0.08405	0.08425	0.14356	N	AEFBI	0.032893	0.03801	N	-0.577608091250192	0.19625	1.028636	-0.768591458878559	0.15266	0.8020448	4.44860287574638E-4	0.07004	0.475973	0.10046	0	0.601575	0.49859	0	0.463624	0.06942	0	0.221012	0.04332	2	.	.	3.12	0.668	0.17081	-0.683000	0.05280	-0.427000	0.09246	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0:0.7932:0.0:0.2068	6.907	0.23497	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	945.77	54	chr17	43209576	.	C	T,G	945.77	.	AC=4,2;AF=0.250,0.125;AN=16;BaseQRankSum=-2.204e+00;DP=843;ExcessHet=1.7912;FS=369.161;InbreedingCoeff=-0.4233;MLEAC=7,3;MLEAF=0.438,0.188;MQ=60.00;MQRankSum=0.00;QD=2.89;ReadPosRankSum=0.771;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:41,0,19:60:99:0|1:43209576_C_G:144,265,1433,0,1167,1115:43209576	2	0	4	13
chr17	44399285	44399285	G	T	exonic	GPATCH8	.	nonsynonymous SNV	GPATCH8:NM_001304943:exon5:c.C2558A:p.S853Y	.	.	422	1096	4	0	0	4	0.00182149	.	.	2384833	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.52	T	1.0	D	0.997	D	0.000	D	1.000	D	0.895	L	2.24	T	-1.121	T	0.074	T	0.415	2.530	14.42	5.2	2.712	8.964	18.529	0.175	0.0132942397881	.	.	6.59e-05	0	0.0002	0.0001	0	7.492e-05	0	0	5.82e-05	9	154602	rs769916673	0.0001	0.0001	0.0002	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	0	0.0004	0	5.04e-05	0	0.0003	0.0002	0.0002	5.797e-05	0.0001	0.0001	0.0001	0.0001	0.0007	9.148e-05	7.704e-05	0.0004	0.0003	0.0002	0	0.0007	0	0	0	0	5.88e-05	0	0	.	.	.	0.361	0.16914	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	0.895	0.22405	L	2.24	0.17923	T	.	.	.	0.545	0.57177	-1.1208	0.02282	T	0.074	0.29960	T	10	0.30187577	0.47727	T	0.013294	0.32578	T	.	.	.	.	0.196089822672	0.19227	0.48287026531522875	0.48207	0.182516927808	0.20511	0.770769417286	0.77541	T	0.031656	0.22138	T	-0.324455	0.06540	T	-0.375873	0.36204	T	0.118316092778163	0.14264	T	0.845715	0.52486	T	0.1874165	0.40195	0.24053971	0.49430	0.1874165	0.40195	0.24053971	0.49429	-7.83	0.59906	D	.	.	0.401	0.59606	A	.	.	3.425556	0.47581	22.5	0.96334878423215153	0.29460	0.98432	0.82716	D	AEFDGBCI	0.858202	0.77568	D	0.593819984953509	0.72786	5.86115	0.628903181532153	0.77049	6.604984	0.999999999030967	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	8.913000	0.92296	9.975000	0.82886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.0:0.0:1.0:0.0	18.529	0.90936	511	0.75131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4154.98	35	chr17	44399285	.	G	T	4154.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.108e+00;DP=1270;ExcessHet=0.0000;FS=8.060;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.17;ReadPosRankSum=-1.595e+00;SOR=1.127	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,111:242:99:0|1:44399285_G_T:4169,0,5085:44399285	20	0	1	0
chr17	44399286	44399286	A	C	exonic	GPATCH8	.	nonsynonymous SNV	GPATCH8:NM_001304943:exon5:c.T2557G:p.S853A	.	.	422	1096	4	0	0	4	0.00182149	.	.	2384832	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.55	T	0.994	D	0.978	D	0.000	D	1.000	D	0.895	L	2.3	T	-1.104	T	0.067	T	0.384	2.383	13.93	5.2	2.190	8.480	14.896	0.193	0.0113018479743	.	.	5.766e-05	0	0.0002	0.0001	0	5.993e-05	0	0	4.53e-05	7	154602	rs775499902	0.0001	0.0001	0.0001	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	0	0.0004	0	5.039e-05	0	0.0003	0.0001	9.936e-05	3.478e-05	0.0001	0.0001	0.0001	0.0001	0.0007	9.152e-05	7.707e-05	0.0004	0.0003	0.0002	0	0.0007	0	0	0	0	5.881e-05	0	0	.	.	.	0.315	0.19421	T	0.994	0.66517	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	0.999684	0.48270	D	0.895	0.22405	L	2.31	0.16794	T	.	.	.	0.402	0.44283	-1.1044	0.03598	T	0.067	0.27502	T	10	0.17827883	0.32905	T	0.011302	0.28784	T	.	.	.	.	0.317526407968	0.31361	0.3482024930364699	0.34734	0.116023652357	0.13085	0.708764433861	0.68415	T	0.029253	0.21004	T	-0.337626	0.05555	T	-0.394792	0.33991	T	0.167987549545225	0.18443	T	0.639136	0.25234	T	0.15062582	0.34281	0.1378453	0.32937	0.15062582	0.34281	0.1378453	0.32936	-9.605	0.71510	D	.	.	0.138	0.30264	B	.	.	3.717720	0.53105	23.3	0.98555614829814797	0.42909	0.98343	0.81823	D	AEFDGBCI	0.768567	0.70409	D	0.505346577544509	0.67405	5.07732	0.539482545541705	0.70668	5.539291	0.999999291197819	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	8.324000	0.89919	9.384000	0.80535	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	1.0:0.0:0.0:0.0	14.896	0.70286	511	0.75131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4154.98	35	chr17	44399286	.	A	C	4154.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.080e-01;DP=1272;ExcessHet=0.0000;FS=8.060;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.17;ReadPosRankSum=-1.416e+00;SOR=1.127	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,111:242:99:0|1:44399285_G_T:4169,0,5085:44399285	20	0	1	0
chr17	45242070	45242070	-	CCG	exonic	FMNL1	.	nonframeshift insertion	FMNL1:NM_005892:exon15:c.1809_1810insCCG:p.P612_G613insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	5739.79	40	chr17	45242067	.	TCCG	T,TCCGCCG	5739.79	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-3.300e-02;DP=925;ExcessHet=1.1607;FS=1.351;InbreedingCoeff=-0.1351;MLEAC=3,2;MLEAF=0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=17.94;ReadPosRankSum=-7.100e-02;SOR=0.799	GT:AD:DP:GQ:PL	0/1:29,29,0:58:99:1122,0,1117,1209,1204,2413	16	0	3	0
chr17	46171672	46171672	C	G	exonic	KANSL1	.	nonsynonymous SNV	KANSL1:NM_001193466:exon2:c.G472C:p.A158P	Koolen-De Vries syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.997	D	0.925	D	0.000	D	1.000	D	0.805	L	2.51	T	-1.173	T	0.061	T	0.913	4.117	21.2	5.92	2.813	5.149	17.053	0.245	0.0177247274648	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1250112340	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.015	0.63918	D	.	.	.	.	.	.	0.000001	0.84330	D	0.055507	0.999516	0.81001	D	.	.	.	2.51	0.14284	T	-1.83	0.42957	N	0.877	0.88909	-1.1726	0.00491	T	0.061	0.25383	T	10	0.49691832	0.61321	T	0.017725	0.39542	T	0.245	0.55201	0.27	0.21893	0.427830603989	0.42401	0.5725063555389703	0.57178	0.145286780944	0.16417	0.779345989227	0.78829	T	.	.	.	0.180125	0.72055	D	0.0209605	0.71693	D	0.724888105143395	0.41947	D	0.935106	0.75644	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.956	0.88707	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.729608	0.76160	26.5	0.9971437370172348	0.81563	0.96755	0.70766	D	AEFBCI	0.815184	0.73722	D	0.625639522418947	0.74799	6.194729	0.67993542309706	0.80859	7.393132	0.999999999997345	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.696144	0.63334	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	5.221000	0.65104	5.966000	0.51911	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	17.053	0.86400	169	0.93437	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	1524.98	34	chr17	46171672	.	C	G	1524.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.545;DP=1732;ExcessHet=0.0000;FS=2.151;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=-8.910e-01;SOR=0.907	GT:AD:DP:GQ:PL	0/1:87,57:144:99:1539,0,2518	20	0	1	0
chr17	46171732	46171732	G	T	exonic	KANSL1	.	nonsynonymous SNV	KANSL1:NM_001193466:exon2:c.C412A:p.L138I	Koolen-De Vries syndrome, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.012	B	0.03	B	0.000	D	1.000	D	0.46	N	2.68	T	-1.040	T	0.021	T	0.149	1.375	10.53	2.37	0.786	2.703	7.785	0.039	0.00935574776519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.208e-06	4.104e-06	2.783e-06	5.656e-06	0.0005	1.51e-06	9.9e-07	0.0001	7.857e-05	3.176e-05	0	0	0	0	0.0005	9.112e-07	1.704e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.36113	T	0.087	0.40747	T	.	.	.	.	.	.	0.000383	0.44960	D	0.147353	1	0.81001	D	.	.	.	2.68	0.12371	T	-0.98	0.25986	N	0.167	0.18376	-1.0399	0.17343	T	0.021	0.08639	T	10	0.13124296	0.24978	T	0.009356	0.24553	T	0.039	0.10176	0.169	0.07419	0.138757226776	0.13463	0.14938984815313766	0.14860	0.0226149863449	0.02283	0.644986510277	0.59273	T	.	.	.	-0.151699	0.28045	T	-0.455681	0.27070	T	0.527356803417206	0.33636	D	0.760024	0.39305	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.19518	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.075069	0.41348	21.3	0.92163429794498986	0.21526	0.89290	0.49665	D	AEFBCI	0.484509	0.52449	N	-0.286740233897158	0.29659	1.646757	-0.110916402179087	0.34949	2.016218	0.9935509940591	0.33262	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.74	2.37	0.28337	2.727000	0.46981	3.594000	0.39199	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1579:0.0:0.7009:0.1411	7.785	0.28253	169	0.93437	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	2231.98	34	chr17	46171732	.	G	T	2231.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.409e+00;DP=1640;ExcessHet=0.0000;FS=5.065;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.72;ReadPosRankSum=1.09;SOR=0.988	GT:AD:DP:GQ:PL	0/1:62,80:142:99:2246,0,1745	20	0	1	0
chr17	46872579	46872579	A	G	exonic	WNT9B	.	nonsynonymous SNV	WNT9B:NM_001320458:exon2:c.A140G:p.Q47R	.	.	420	1079	20	3	0	26	0.0119048	.	.	1630578	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.53	T	0.072	B	0.023	B	0.083	N	0.858	N	1.7	L	-0.95	T	-0.771	T	0.247	T	0.236	0.621	7.343	4.48	2.013	.	11.516	0.128	.	0.0044	0.00339457	0.0075	0.0009	0.0017	0	0.0259	0.0068	0.0136	0.0167	0.0064035	990	154602	rs118185468	0.0065	0.0065	0.0063	0.0067	0.0128	0.0064	0.0063	0.0122	0.0119	0.0005	0.0018	0.0017	2.538e-05	0.0230	0.0079	0.0059	0.0059	0.0128	0.0054	0.0054	0.0048	0.0061	0.0128	0.0051	0.0050	0.0103	0.0093	0.0010	0	0.0011	0.0035	0	0.0231	0	0.0065	0.0038	0.0128	0.134	0.29688	T	0.476	0.30143	T	0.072	0.23997	B	0.023	0.19966	B	0.082512	0.20804	N	0.507715	0.858057	0.28398	N	1.895	0.50365	L	-1.39	0.80387	T	-0.69	0.19720	N	0.141	0.14763	-0.7710	0.56803	T	0.247	0.61635	T	10	0.005423963	0.00119	T	.	.	.	0.128	0.35103	.	.	0.900307032389	0.89931	0.5040463843694573	0.50326	0.299722776496	0.32340	0.550557017326	0.45935	T	0.268256	0.64036	T	-0.399512	0.02332	T	-0.334971	0.40912	T	0.00942075269797112	0.00121	T	.	.	.	0.06629579	0.14250	0.096777566	0.23008	0.06629579	0.14250	0.096777566	0.23008	-3.213	0.12640	T	.	.	0.065	0.01909	B	.;.;.	.;.;.	1.602473	0.20483	14.77	0.91943365196778426	0.21270	0.78732	0.38889	D	AEFDBI	0.143800	0.26660	N	-0.470793134273499	0.23042	1.234558	-0.423063799552568	0.24321	1.331227	0.581956077750406	0.21578	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.48	4.48	0.53973	1.500000	0.35290	5.610000	0.49052	0.751000	0.87719	0.054000	0.21560	1.000000	0.68203	0.025000	0.12405	0.8506:0.1494:0.0:0.0	11.516	0.49771	444	0.79803	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1191.98	35	chr17	46872579	.	A	G	1191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=793;ExcessHet=0.0000;FS=0.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.19;ReadPosRankSum=1.52;SOR=0.594	GT:AD:DP:GQ:PL	0/1:34,50:84:99:1206,0,706	20	0	1	0
chr17	47838815	47838815	G	C	exonic	SCRN2	.	nonsynonymous SNV	SCRN2:NM_001145023:exon5:c.C748G:p.R250G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.362	B	0.148	B	0.100	N	1.000	N	1.87	L	3.24	T	-1.018	T	0.023	T	0.495	0.798	8.200	2.46	0.285	-0.104	9.619	0.054	0.00691140877535	.	.	8.306e-06	0	0	0	0	1.515e-05	0	0	1.29e-05	2	154602	rs372666717	1.369e-06	1.368e-06	0	2.752e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.19639	T	0.325	0.20877	T	0.249	0.31168	B	0.148	0.34065	B	0.100005	0.19907	N	0.557274	0.999999	0.08975	N	2.66	0.77858	M	3.09	0.08371	T	-2.89	0.60665	D	0.252	0.29659	-1.0176	0.24495	T	0.023	0.09787	T	10	0.11259666	0.21126	T	0.006911	0.18289	T	0.054	0.15330	0.505	0.59924	0.0806252709748	0.07271	0.42185594820416483	0.42102	0.418074075645	0.42406	0.235634803772	0.02411	T	0.203331	0.64816	T	-0.167339	0.25639	T	-0.478147	0.24643	T	0.247234091162682	0.22749	T	0.0987901	0.00733	T	0.053224176	0.10041	0.0666519	0.13684	0.053224176	0.10041	0.0666519	0.13683	-4.943	0.36215	T	.	.	0.085	0.11461	B	.;.;.	.;.;.	0.512518	0.08815	5.592	0.95715608471582903	0.27631	0.23603	0.22129	N	AEFDBI	0.332722	0.43204	N	-0.789259014258854	0.13589	0.6705383	-0.844886725200489	0.13411	0.6955277	0.998164125617368	0.36515	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.52	2.46	0.29032	-0.100000	0.10959	0.293000	0.16894	-0.693000	0.04107	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.2236:0.0:0.7764:0.0	9.619	0.38877	320	0.86992	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1483.98	45	chr17	47838815	.	G	C	1483.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.269e+00;DP=910;ExcessHet=0.0000;FS=2.313;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=-3.920e-01;SOR=0.503	GT:AD:DP:GQ:PL	0/1:63,58:121:99:1498,0,1700	20	0	1	0
chr17	58273567	58273567	T	C	exonic	MPO	.	nonsynonymous SNV	MPO:NM_000250:exon9:c.A1468G:p.I490V,	Myeloperoxidase deficiency, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.006	B	0.013	B	0.000	D	0.922	D	0.405	N	-0.87	T	-0.897	T	0.174	T	0.147	0.225	5.215	4.27	1.792	3.358	7.606	0.135	0.0181513887736	.	0.00159744	0.0005	0	0	0	0	0	0	0.0035	0.0004204	65	154602	rs538178599	0.0002	0.0002	9.256e-05	0.0003	0.0035	0.0002	0.0002	0.0032	0.0030	0	0	0	0	0	0	0	0.0001	0.0035	0.0001	0.0001	7.708e-05	0.0001	0.0033	6.506e-05	5.318e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0	0.0033	0.791	0.03192	T	0.621	0.07419	T	0.006	0.13644	B	0.013	0.16460	B	0.000003	0.62929	D	0.059563	0.921684	0.36696	D	0.15	0.08895	N	-0.87	0.74583	T	-0.03	0.07444	N	0.329	0.36989	-0.8973	0.48264	T	0.174	0.51658	T	10	0.010801494	0.00239	T	0.018151	0.40116	T	0.135	0.36572	0.75	0.88071	0.615496883321	0.61239	0.5618667441443427	0.56113	0.305408977561	0.32842	0.655335009098	0.60743	T	0.226093	0.59101	T	-0.427747	0.01530	T	-0.388678	0.34706	T	0.0600071454431362	0.07169	T	0.590841	0.21745	T	0.27013588	0.50085	0.117394745	0.28340	0.23919298	0.46807	0.13531189	0.32399	-4.471	0.30507	T	0.11085572483611557	0.09413	0.097	0.15698	B	.	.	2.483586	0.32028	18.92	0.82232657354262595	0.14086	0.81896	0.41211	D	ALL	0.206250	0.33253	N	-0.529008226682259	0.21147	1.120119	-0.393271886115977	0.25196	1.384223	0.99999959945673	0.74766	0.693307	0.56506	0	0.658952	0.61834	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	4.27	4.27	0.50009	3.472000	0.52879	3.497000	0.38753	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.842000	0.39752	0.0:0.095:0.0:0.905	7.606	0.27269	316	0.87161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2412.98	33	chr17	58273567	.	T	C	2412.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.482e+00;DP=930;ExcessHet=0.0000;FS=2.980;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=-3.700e-01;SOR=0.547	GT:AD:DP:GQ:PL	0/1:117,107:224:99:2427,0,3015	20	0	1	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	YES	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.639	25.4	5.44	2.535	7.487	19.245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.588e-05	0.0003	2.232e-05	2.945e-05	3.23e-05	1.91e-05	1.667e-05	2.345e-05	2.075e-05	3.058e-05	0	0	0	0	0	3.23e-05	1.685e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434982	0.91780	D	0.387045	0.91678	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.230299	0.94839	34	0.99425828103495784	0.63984	0.99078	0.90902	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	576.98	48	chr17	61968034	.	C	G	576.98	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-9.620e-01;DP=1240;ExcessHet=7.7275;FS=188.533;InbreedingCoeff=-0.4183;MLEAC=12;MLEAF=0.316;MQ=60.00;MQRankSum=0.00;QD=1.00;ReadPosRankSum=0.939;SOR=11.843	GT:AD:DP:GQ:PL	0/1:30,21:61:66:66,0,423	8	0	11	2
chr17	63957197	63957197	C	T	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon13:c.G2341A:p.V781I,	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	1514	7	0	0	7	0.00230643	.	.	34005	not_specified|Hypokalemic_periodic_paralysis,_type_2|Potassium-aggravated_myotonia|not_provided|Joubert_syndrome_17|Congenital_myasthenic_syndrome_16|Familial_hyperkalemic_periodic_paralysis|Hypokalemic_periodic_paralysis,_type_1|Paramyotonia_congenita_of_Von_Eulenburg	MedGen:CN169374|MONDO:MONDO:0013234,MedGen:C2750061,OMIM:613345,Orphanet:681|MONDO:MONDO:0018959,MedGen:C2931826,OMIM:608390,Orphanet:612,Orphanet:99734,Orphanet:99735,Orphanet:99736|MedGen:C3661900|MONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615,Orphanet:475|MONDO:MONDO:0013620,MedGen:C3280112,OMIM:614198,Orphanet:590|Human_Phenotype_Ontology:HP:0007215,MONDO:MONDO:0008224,MedGen:C0238357,OMIM:170500,Orphanet:682|MONDO:MONDO:0042979,MedGen:C3714580,OMIM:170400,Orphanet:681|MONDO:MONDO:0008195,MedGen:C0221055,OMIM:168300,Orphanet:684	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.891	P	0.364	B	0.000	D	1.000	D	1.1	L	-4.95	D	0.469	D	0.698	D	0.661	4.318	22.6	3.91	2.180	7.609	15.018	0.730	.	0.0046	0.0091853	0.0097	0.0021	0.0289	0.0201	0.0070	0.0075	0.0074	0.0026	0.009062	1401	154602	rs62070884	0.0076	0.0076	0.0079	0.0074	0.0307	0.0075	0.0074	0.0294	0.0288	0.0012	0.0307	0.0035	0.0239	0.0085	0.0014	0.0069	0.0054	0.0015	0.0087	0.0087	0.0075	0.0100	0.0310	0.0083	0.0082	0.0287	0.0278	0.0019	0	0.0310	0.0029	0.0187	0.0098	0	0.0080	0.0061	0.0012	0.051	0.39334	T	0.393	0.15355	T	0.891	0.49025	P	0.364	0.43306	B	0.000086	0.51296	D	0.127755	0.999681	0.48270	D	1.575	0.39704	L	-4.95	0.98428	D	-0.93	0.24898	N	0.787	0.78356	0.469	0.90111	D	0.698	0.89610	D	10	0.015130967	0.00318	T	.	.	.	0.730	0.90545	.	.	.	.	0.6270414422481512	0.62637	0.647554560069	0.58134	0.689928174019	0.65696	T	0.703438	0.91481	D	-0.0446516	0.45257	T	0.186082	0.82345	D	0.0190887025942754	0.00617	T	0.90081	0.65538	D	0.34728563	0.56855	0.25241587	0.50871	0.34728563	0.56855	0.25241587	0.50870	-8.835	0.66629	D	0.28733984521299344	0.38349	0.164	0.36194	B	.	.	4.570234	0.72093	25.8	0.99861989542368212	0.94002	0.88740	0.48813	D	AEFDGBCI	0.850779	0.76762	D	0.373509630198938	0.59991	4.183381	0.413791358474063	0.62423	4.457422	0.999931041148789	0.46732	0.661447	0.50134	0	0.588066	0.40923	0	0.644132	0.48003	0	0.613276	0.41899	0	.	.	3.91	3.91	0.44383	7.905000	0.86479	7.733000	0.67792	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.018	0.71261	811	0.42639	Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	4797.11	35	chr17	63957197	.	C	T	4797.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.62;DP=1091;ExcessHet=0.1072;FS=2.771;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=1.42;SOR=0.840	GT:AD:DP:GQ:PL	0/1:87,106:193:99:2816,0,2016	19	0	2	0
chr17	64895958	64895958	C	T	exonic	LRRC37A3	.	nonsynonymous SNV	LRRC37A3:NM_199340:exon4:c.G1300A:p.V434I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.001	B	0.001	B	.	.	1.000	N	0.805	L	0.1	T	-1.040	T	0.100	T	0.021	-0.682	1.032	-5.25	-1.859	-4.489	6.033	0.043	0.00249989707502	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1256683927	4.949e-05	4.373e-05	2.596e-05	7.173e-05	0.0006	3.824e-05	3.457e-05	0.0005	0.0004	0	0	0	0	0	0	5.514e-06	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.282	0.21545	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	0.1	0.61326	T	-0.48	0.15379	N	0.014	0.00160	-1.0396	0.17434	T	0.100	0.37060	T	9	0.04237011	0.02981	T	0.003	0.04980	T	0.043	0.11576	0.151	0.05441	0.0138822411134	0.00435	0.030950138306630424	0.03044	.	.	0.561474680901	0.47475	T	0.003834	0.03242	T	-0.584822	0.00180	T	-0.71139	0.05224	T	0.041137073493679	0.03896	T	0.352165	0.07899	T	0.045105524	0.07325	0.03160179	0.01773	0.045105524	0.07325	0.03160179	0.01772	-2.96	0.09757	T	.	.	0.100	0.17016	B	.;.	.;.	-0.870396	0.00976	0.039	0.70764425107543216	0.09403	0.00070	0.00494	N	AEFI	0.030862	0.03186	N	-1.77519725141673	0.00609	0.02623636	-1.90652037832596	0.00475	0.02104538	7.07337917678514E-4	0.07666	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.63	-5.25	0.02567	-2.135000	0.01393	-7.247000	0.01198	0.193000	0.17869	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5933:0.2465:0.1602	6.033	0.18916	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	0.025	197.34	35	chr17	64895958	.	C	T	197.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-5.110e-01;DP=431;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0257;MLEAC=1;MLEAF=0.025;MQ=24.69;MQRankSum=1.04;QD=7.05;ReadPosRankSum=-1.487e+00;SOR=0.269	GT:AD:DP:GQ:PL	0/1:18,10:28:99:211,0,556	19	0	1	1
chr17	65536476	65536476	A	G	exonic	AXIN2	.	nonsynonymous SNV	AXIN2:NM_001363813:exon7:c.T1790C:p.L597P	Colorectal cancer, somatic;Oligodontia-colorectal cancer syndrome, Autosomal dominant	.	0	1507	15	0	0	15	0.00495213	.	.	133396	Hereditary_cancer-predisposing_syndrome|AXIN2-related_disorder|not_provided|Oligodontia-cancer_predisposition_syndrome|not_specified	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|.|MedGen:C3661900|MONDO:MONDO:0012075,MedGen:C1837750,OMIM:608615,Orphanet:300576|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.5	T	0.009	B	0.004	B	0.035	N	1.000	D	-0.49	N	0.18	T	-1.004	T	0.052	T	0.524	1.512	11.01	5.42	2.039	3.905	8.039	0.169	0.0253284383472	0.0014	0.000998403	0.0011	0.0004	0.0005	0	0	0.0015	0.0011	0.0011	0.0010931	169	154602	rs142476324	0.0012	0.0012	0.0012	0.0013	0.0036	0.0012	0.0012	0.0024	0.0020	0.0004	0.0008	3.826e-05	0	7.528e-05	0.0036	0.0014	0.0012	0.0010	0.0009	0.0009	0.0011	0.0007	0.0015	0.0008	0.0007	0.0013	0.0012	0.0004	0.0044	0.0004	0	0	0	0.0034	0.0015	0.0009	0.0006	0.403	0.11586	T	0.754	0.19480	T	0.001	0.07471	B	0.003	0.08700	B	0.035400	0.24650	N	0.405202	0.99983	0.49637	D	.	.	.	0.18	0.61208	T	2.88	0.00637	N	0.359	0.40063	-1.0036	0.28874	T	0.052	0.21960	T	10	0.01240769	0.00267	T	0.025328	0.48303	D	0.169	0.43123	.	.	0.287603790349	0.28378	0.16448546333733363	0.16368	0.289863403258	0.31394	0.585605740547	0.50876	T	0.220625	0.58396	T	-0.340044	0.05384	T	-0.28024	0.46779	T	0.0166584047129136	0.00425	T	0.685431	0.29402	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.09627	B	.;.;.	.;.;.	2.327978	0.29821	18.24	0.97445971218529881	0.34002	0.86498	0.45790	D	AEFDGBCI	0.367924	0.45520	N	-0.302762411198278	0.29043	1.607105	-0.0394925493483549	0.37949	2.228947	0.999999997003174	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.528226	0.09195	0	.	.	5.42	5.42	0.78666	3.804000	0.55272	7.925000	0.74723	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.8461:0.0:0.1539:0.0	8.039	0.29671	914	0.21048	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1630.98	33	chr17	65536476	.	A	G	1630.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.089;DP=917;ExcessHet=0.0000;FS=2.271;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=0.122;SOR=0.712	GT:AD:DP:GQ:PL	0/1:60,66:126:99:1645,0,1488	20	0	1	0
chr17	67959642	67959642	-	CCTCCAGCCCCTCCAGCCCCTCCAGCC	exonic	BPTF	.	nonframeshift insertion	BPTF:NM_182641:exon24:c.8028_8029insCCTCCAGCCCCTCCAGCCCCTCCAGCC:p.P2684_P2685insAPPAPPAPP	.	.	428	734	271	57	32	417	0.207771	.	.	1264390	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	9.484e-05	0	0	0.0005	0	0.0003	0.0001153	3	26028	.	0.0022	0.0024	0.0023	0.0022	0.0074	0.0022	0.0021	0.0056	0.0049	0.0006	0.0003	0.0030	0	0.0008	0.0074	0.0025	0.0026	0.0008	0.0019	0.0021	0.0020	0.0018	0.0029	0.0017	0.0016	0.0026	0.0024	0.0007	0	0.0018	0.0026	0	0.0006	0.0145	0.0029	0.0025	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	13627.31	45	chr17	67959642	.	T	TCCTCCAGCC,TCCTCCAGCCCCTCCAGCCCCTCCAGCC	13627.31	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=0.749;DP=1382;ExcessHet=0.0874;FS=0.000;InbreedingCoeff=0.2929;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=23.25;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PL	1/2:0,33,41:74:99:3644,1746,1592,1382,0,1206	14	1	5	0
chr17	68882675	68882675	G	T	exonic	ABCA8	.	nonsynonymous SNV	ABCA8:NM_001375771:exon28:c.C3569A:p.P1190Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.996	D	0.95	D	0.019	N	1.000	N	3.22	M	-2.17	D	0.047	D	0.765	D	0.331	2.516	14.37	1.63	0.310	1.067	7.593	0.271	0.0167553787602	.	.	2.474e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs776375703	1.096e-05	1.231e-05	4.089e-06	1.789e-05	0.0002	6.49e-06	5.25e-06	9.804e-05	7.848e-05	0	0	0	0	0	0	0	3.314e-05	0.0002	1.973e-05	1.97e-05	1.286e-05	2.692e-05	0.0006	5.24e-06	2.46e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	0.002	0.72154	D	0.054	0.47097	T	0.988	0.62325	D	0.897	0.63631	P	0.019449	0.27255	N	0.257136	1	0.08975	N	3.045	0.86684	M	-2.17	0.86722	D	-6.84	0.93060	D	0.309	0.40264	0.047	0.83180	D	0.765	0.92016	D	10	0.18964067	0.34572	T	0.016755	0.38167	T	0.271	0.58633	0.263	0.20788	0.796394941066	0.79449	0.2723698818332321	0.27149	0.345885374669	0.36490	0.29214566946	0.09236	T	0.23257	0.66759	T	-0.130929	0.31346	T	-0.166168	0.57792	T	0.843615055084229	0.49625	D	0.836316	0.80515	T	0.25884196	0.48935	0.31430906	0.57424	0.25884196	0.48935	0.31430906	0.57423	.	.	.	.	.	0.166	0.39949	B	.;.;.	.;.;.	2.957611	0.39377	20.9	0.98567884577826348	0.43063	0.12444	0.17272	N	AEFBI	0.205166	0.33154	N	0.0181557672964593	0.42680	2.576223	-0.203411506502518	0.31413	1.777561	2.31506511512514E-6	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	4.73	1.63	0.22882	1.253000	0.32488	5.055000	0.47034	0.618000	0.50648	0.098000	0.22752	1.000000	0.68203	0.982000	0.59238	0.3459:0.0:0.6541:0.0	7.593	0.27198	981	0.03995	.;.;.	.	.	.	.	.	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	2017.98	35	chr17	68882675	.	G	T	2017.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.082;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=-3.350e-01;SOR=0.680	GT:AD:DP:GQ:PL	0/1:73,86:159:99:2032,0,1675	20	0	1	0
chr17	69194391	69194391	T	G	exonic	ABCA10	.	nonsynonymous SNV	ABCA10:NM_001377321:exon12:c.A1339C:p.T447P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.134	U	0.773	D	3.115	M	-3.44	D	0.986	D	0.905	D	0.506	3.427	17.59	-0.080	-0.265	-0.468	10.925	0.526	0.0706512358573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.991	0.79672	D	0.134411	0.18517	U	0.279124	1	0.08975	N	2.905	0.84014	M	-3.44	0.94428	D	-5.19	0.83625	D	0.316	0.35620	0.986	0.96957	D	0.905	0.96836	D	10	0.6209373	0.67973	D	0.070651	0.71060	D	0.526	0.79947	0.631	0.76699	0.699037688466	0.69643	0.5532918652599023	0.55255	0.243943641455	0.26902	0.252976089716	0.04087	T	0.533151	0.83880	D	0.135842	0.67927	D	-0.0426483	0.67523	D	0.895191133022308	0.54670	D	0.914809	0.69637	D	0.6011463	0.72753	0.5017864	0.71199	0.6011463	0.72754	0.5017864	0.71199	-11.463	0.82137	D	.	.	0.239	0.47261	B	.	.	1.737620	0.22111	15.49	0.99165558929957254	0.54241	0.13345	0.17803	N	AEFBIJ	0.286709	0.39903	N	-0.111038399058478	0.36910	2.140095	-0.406183954240203	0.24816	1.361035	7.03656766406363E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	3.8	-0.0796	0.13044	-0.113000	0.10745	-5.355000	0.01750	0.587000	0.30956	0.003000	0.16062	0.000000	0.08366	0.207000	0.22098	0.7412:0.0:0.0:0.2588	10.925	0.46398	910	0.22284	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	217.3	33	chr17	69194391	.	T	G	217.3	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.822e+00;DP=1966;ExcessHet=1.7912;FS=271.712;InbreedingCoeff=-0.1603;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.097;SOR=11.722	GT:AD:DP:GQ:PL	0/1:112,39:151:23:23,0,1993	15	0	6	0
chr17	74893515	74893515	-	GGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	exonic	FADS6	.	nonframeshift insertion	FADS6:NM_178128:exon1:c.80_81insTACGGAGCCCATGGAACCTACGGAGCCCATGGAACC:p.P33_A34insTEPMEPTEPMEP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8568.97	33	chr17	74893497	.	CGGTTCCATGGGCTCCGTA	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,C,CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,CCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	8568.97	.	AC=3,1,5,2;AF=0.071,0.024,0.119,0.048;AN=42;BaseQRankSum=0.354;DP=1189;ExcessHet=0.4237;FS=2.515;InbreedingCoeff=0.1378;MLEAC=3,1,5,2;MLEAF=0.071,0.024,0.119,0.048;MQ=59.89;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-9.180e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,19,0,0,0:50:99:0|1:74893497_C_CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA:620,0,1144,727,1201,1928,727,1201,1928,1928,727,1201,1928,1928,1928:74893497	12	1	1	0
chr17	74893515	74893515	-	GGTTCCATGGGCTCCGTA	exonic	FADS6	.	nonframeshift insertion	FADS6:NM_178128:exon1:c.80_81insTACGGAGCCCATGGAACC:p.P33_A34insTEPMEP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8568.97	33	chr17	74893497	.	CGGTTCCATGGGCTCCGTA	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,C,CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,CCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	8568.97	.	AC=3,1,5,2;AF=0.071,0.024,0.119,0.048;AN=42;BaseQRankSum=0.354;DP=1189;ExcessHet=0.4237;FS=2.515;InbreedingCoeff=0.1378;MLEAC=3,1,5,2;MLEAF=0.071,0.024,0.119,0.048;MQ=59.89;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-9.180e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,19,0,0,0:50:99:0|1:74893497_C_CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA:620,0,1144,727,1201,1928,727,1201,1928,1928,727,1201,1928,1928,1928:74893497	12	1	1	0
chr17	74893497	74893497	-	CATGGGCTCCGTA	exonic	FADS6	.	frameshift insertion	FADS6:NM_178128:exon1:c.98_99insTACGGAGCCCATG:p.A34Tfs*256,	.	.	429	803	98	141	51	431	0.191339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	7.691e-05	0.0002	0.0011	0.0001	9.685e-05	0.0005	0.0003	3.3e-05	2.49e-05	0.0008	0	0.0009	0.0011	4.107e-05	0.0002	0.0005	0.0003	0.0003	0.0003	0.0004	0.0018	0.0002	0.0002	0.0009	0.0006	9.334e-05	0	8.304e-05	0	0	0.0013	0	0.0003	0.0006	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8568.97	33	chr17	74893497	.	CGGTTCCATGGGCTCCGTA	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,C,CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,CCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	8568.97	.	AC=3,1,5,2;AF=0.071,0.024,0.119,0.048;AN=42;BaseQRankSum=0.354;DP=1189;ExcessHet=0.4237;FS=2.515;InbreedingCoeff=0.1378;MLEAC=3,1,5,2;MLEAF=0.071,0.024,0.119,0.048;MQ=59.89;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-9.180e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,19,0,0,0:50:99:0|1:74893497_C_CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA:620,0,1144,727,1201,1928,727,1201,1928,1928,727,1201,1928,1928,1928:74893497	12	1	1	0
chr17	78827336	78827336	G	T	exonic	USP36	.	nonsynonymous SNV	USP36:NM_001385177:exon5:c.C103A:p.H35N	.	.	436	1077	9	0	0	9	0.00416089	.	.	704411	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.4	T	0.156	B	0.121	B	0.000	D	1.000	D	1.035	L	1.58	T	-1.103	T	0.050	T	0.505	3.820	19.40	5.39	2.538	6.538	17.992	0.156	.	0.0065	0.00259585	0.0051	0.0015	0.0056	0.0001	0.0028	0.0072	0.0075	0.0017	0.0048447	749	154602	rs150547254	0.0063	0.0063	0.0064	0.0062	0.0075	0.0062	0.0061	0.0070	0.0070	0.0010	0.0044	0.0112	5.044e-05	0.0030	0.0075	0.0071	0.0059	0.0019	0.0046	0.0046	0.0048	0.0044	0.0068	0.0043	0.0042	0.0063	0.0061	0.0013	0	0.0059	0.0115	0	0.0031	0	0.0068	0.0038	0.0025	0.127	0.27080	T	0.079	0.42086	T	0.156	0.28196	B	0.1	0.30674	B	0.000000	0.84330	D	0.092295	1	0.81001	D	1.2	0.30300	L	1.58	0.29085	T	-6.09	0.89947	D	0.407	0.45142	-1.1033	0.03714	T	0.050	0.21182	T	10	0.0073753	0.00168	T	.	.	.	0.156	0.40720	.	.	0.351830644314	0.34792	0.47098803839683895	0.47017	0.120928499415	0.13617	0.642046868801	0.58856	T	0.036777	0.24231	T	-0.405347	0.02135	T	-0.349902	0.39216	T	0.0370108171853124	0.03158	T	0.80432	0.51609	T	0.6358533	0.74610	0.6899605	0.81758	0.6358533	0.74612	0.6899605	0.81759	-9.714	0.72182	D	.	.	0.585	0.68272	P	.;.;.;.;.	.;.;.;.;.	4.102468	0.61177	24.3	0.98552732025651235	0.42871	0.96425	0.69076	D	AEFDBHCI	0.792167	0.72054	D	0.062857182451019	0.44737	2.742252	0.245671991357018	0.52405	3.415397	0.999999999999996	0.74766	0.78354	0.99714	0	0.827368	0.99789	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	6.748000	0.74674	11.569000	0.93274	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.0:1.0:0.0	17.992	0.89094	946	0.12043	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	566.98	23	chr17	78827336	.	G	T	566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.990e-01;DP=672;ExcessHet=0.0000;FS=1.419;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.20;ReadPosRankSum=-1.520e+00;SOR=0.399	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,22:35:99:0|1:78827336_G_T:581,0,472:78827336	20	0	1	0
chr17	80010469	80010469	G	A	exonic	TBC1D16	.	nonsynonymous SNV	TBC1D16:NM_019020:exon3:c.C470T:p.A157V,	.	.	432	1089	0	1	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	0.001	N	1.000	D	0	N	3.1	T	-0.994	T	0.008	T	0.02	0.412	6.235	3.6	0.904	4.180	11.189	0.110	.	0.0036	0.00299521	0.0010	0.0122	0.0002	0.0001	0	3.82e-05	0	0	0.0008344	129	154602	rs142386768	0.0003	0.0003	0.0004	0.0003	0.0104	0.0003	0.0003	0.0095	0.0091	0.0104	0.0003	0	0.0002	0	0.0005	4.773e-05	0.0006	8.162e-05	0.0027	0.0027	0.0028	0.0026	0.0096	0.0025	0.0024	0.0088	0.0085	0.0096	0	0.0005	0	0	0	0	2.941e-05	0.0014	0.0002	0.347	0.12428	T	0.345	0.17750	T	0.0	0.02946	B	0.0	0.01387	B	0.001087	0.00736	N	4.714300	0.999987	0.18198	N	0.69	0.16971	N	3.1	0.08283	T	-0.06	0.07882	N	0.156	0.16168	-0.9936	0.31670	T	0.008	0.02842	T	10	0.0040952265	0.00080	T	.	.	.	0.110	0.31079	.	.	0.347659731818	0.34379	0.14809863464875447	0.14731	0.0379656945064	0.04033	0.333814620972	0.15509	T	0.007393	0.06799	T	-0.698154	0.00037	T	-0.767665	0.02846	T	0.0155563963384397	0.00353	T	0.385761	0.09460	T	0.036639832	0.04547	0.046361614	0.06445	0.036639832	0.04547	0.046361614	0.06445	-3.892	0.22182	T	.	.	0.068	0.02639	B	.	.	1.377228	0.17880	13.42	0.87793806213857706	0.17486	0.95841	0.66383	D	AEFBI	0.488225	0.52664	N	-0.71691909486718	0.15547	0.7844099	-0.62317322750227	0.18898	1.011611	0.979357193794744	0.30019	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.58	3.6	0.40374	4.274000	0.58717	3.378000	0.37982	0.614000	0.49286	0.996000	0.39380	0.836000	0.27257	0.001000	0.02609	0.0874:0.0:0.9126:0.0	11.189	0.47902	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	1419.98	40	chr17	80010469	.	G	A	1419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.747e+00;DP=836;ExcessHet=0.0000;FS=6.485;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=0.724;SOR=1.212	GT:AD:DP:GQ:PL	0/1:41,57:98:99:1434,0,1021	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	0|1:60,58,0:118:99:0|1:80090158_A_G:1703,0,2204,1883,2373,4256:80090158	1	6	9	4
chr17	80182770	80182770	T	C	exonic	CARD14	.	nonsynonymous SNV	CARD14:NM_001257970:exon3:c.T329C:p.V110A	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	531988	Pityriasis_rubra_pilaris|Psoriasis_2|CARD14-related_disorder	MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.4	T	0.533	P	0.185	B	0.044	N	0.971	N	1.59	L	1.75	T	-1.066	T	0.035	T	0.131	-0.096	3.528	3.0	0.436	1.394	8.485	0.017	0.00330826240162	0.0024	0.00179712	0.0006	0.0069	0	0	0	0	0	0	0.0005433	84	154602	rs138139140	0.0001	0.0001	0.0002	0.0001	0.0054	0.0001	0.0001	0.0048	0.0045	0.0054	4.472e-05	0	0	0	0	0	0.0003	4.637e-05	0.0017	0.0017	0.0019	0.0015	0.0059	0.0015	0.0015	0.0053	0.0051	0.0059	0	0.0006	0	0	0	0	0	0.0009	0.0002	0.317	0.13699	T	0.034	0.52727	D	0.533	0.37766	P	0.185	0.36047	B	0.044070	0.23675	N	0.421154	0.999999	0.08975	N	1.59	0.40313	L	1.75	0.26152	T	-0.23	0.10656	N	0.307	0.34659	-1.0660	0.10316	T	0.035	0.14987	T	10	0.007148564	0.00162	T	0.003308	0.07359	T	0.017	0.02790	.	.	0.548865971634	0.54542	0.5495610579162061	0.54882	0.280332731351	0.30512	0.38028433919	0.22297	T	0.02687	0.19793	T	-0.601379	0.00143	T	-0.633169	0.10175	T	0.0171798048872352	0.00462	T	0.551245	0.19007	T	0.038730673	0.05215	0.04818468	0.07102	0.037523117	0.04827	0.04282806	0.05189	-10.109	0.74562	D	0.28131416363418144	0.37667	0.239	0.47524	B	.;.;.;.	.;.;.;.	1.592490	0.20368	14.72	0.64859284193375022	0.07610	0.07920	0.13907	N	AEFDBI	0.056982	0.10577	N	-0.594201594922047	0.19119	0.9981909	-0.680220361025936	0.17456	0.9282567	9.63544668493079E-5	0.04910	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.11	3.0	0.33773	1.111000	0.30773	3.078000	0.36228	0.605000	0.46263	0.020000	0.19661	0.708000	0.26274	0.004000	0.06068	0.0:0.0:0.1972:0.8028	8.485	0.32228	884	0.28482	.;.;.;.	.	.	.	.	.	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	2508.98	33	chr17	80182770	.	T	C	2508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.870e-01;DP=922;ExcessHet=0.0000;FS=2.305;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=0.038;SOR=0.537	GT:AD:DP:GQ:PL	0/1:117,108:225:99:2523,0,2870	20	0	1	0
chr17	80225867	80225867	C	G	exonic	SLC26A11	.	nonsynonymous SNV	SLC26A11:NM_001166348:exon5:c.C544G:p.P182A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.064	B	0.077	B	0.027	N	0.994	N	0.73	N	-3.08	D	-0.603	T	0.322	T	0.211	1.026	9.192	4.09	1.811	3.003	12.703	0.241	.	0.0108	0.00878594	0.0032	0.0352	0.0012	0	0	1.499e-05	0.0022	0.0001	0.0029948	463	154602	rs115961261	0.0009	0.0009	0.0010	0.0007	0.0313	0.0008	0.0008	0.0297	0.0291	0.0313	0.0019	0	0	0	0.0002	1.529e-05	0.0018	9.275e-05	0.0100	0.0100	0.0110	0.0090	0.0338	0.0096	0.0094	0.0324	0.0318	0.0338	0	0.0067	0	0	0	0	1.471e-05	0.0085	0	0.515	0.07378	T	0.655	0.06621	T	0.064	0.23455	B	0.077	0.28532	B	0.026961	0.25836	N	0.424346	0.993634	0.23676	N	-0.375	0.03072	N	-3.08	0.92560	D	-0.01	0.07155	N	0.278	0.31814	-0.6028	0.64701	T	0.322	0.69108	T	10	0.0068176985	0.00155	T	.	.	.	0.241	0.54641	.	.	0.614776886339	0.61167	0.3562458375326955	0.35538	0.10966097076	0.12367	0.348615646362	0.17719	T	0.148812	0.65039	T	-0.345933	0.04988	T	-0.243923	0.50415	T	0.011828016290555	0.00184	T	0.458954	0.18049	T	0.05877391	0.11866	0.050321903	0.07875	0.05877391	0.11866	0.050321903	0.07875	-2.219	0.04133	T	.	.	0.075	0.12797	B	.;.;.;.;.	.;.;.;.;.	3.099988	0.41772	21.4	0.78151701610736779	0.12177	0.96026	0.67198	D	AEFDGBI	0.189333	0.31659	N	-0.252675135825654	0.30996	1.73376	-0.0952276601742009	0.35586	2.060663	0.978242239718995	0.29902	0.706548	0.73137	0	0.633656	0.55848	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.09	4.09	0.47038	3.070000	0.49732	4.734000	0.44570	0.549000	0.26987	0.999000	0.42656	1.000000	0.68203	0.951000	0.49849	0.0:0.8328:0.1672:0.0	12.703	0.56412	840	0.37365	SLC26A/SulP transporter domain;SLC26A/SulP transporter domain;SLC26A/SulP transporter domain;SLC26A/SulP transporter domain;SLC26A/SulP transporter 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	999.98	33	chr17	80225867	.	C	G	999.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.873;DP=826;ExcessHet=0.0000;FS=3.352;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.63;ReadPosRankSum=0.856;SOR=0.686	GT:AD:DP:GQ:PL	0/1:86,45:131:99:1014,0,2199	20	0	1	0
chr17	80237084	80237084	C	T	exonic	SLC26A11	.	nonsynonymous SNV	SLC26A11:NM_001166348:exon7:c.C893T:p.S298F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.993	D	0.914	D	0.000	D	1.000	D	2.94	M	-3.24	D	0.635	D	0.815	D	0.588	3.372	17.37	5.16	2.376	5.533	18.230	0.617	.	0.0071	0.00778754	0.0022	0.0246	0.0007	0	0	3.01e-05	0	0	0.0020504	317	154602	rs61910709	0.0006	0.0006	0.0007	0.0005	0.0219	0.0006	0.0006	0.0206	0.0201	0.0219	0.0013	0	0	0	0	3.69e-05	0.0012	5.798e-05	0.0069	0.0070	0.0075	0.0064	0.0239	0.0066	0.0064	0.0227	0.0222	0.0239	0	0.0033	0	0	0	0	0	0.0052	0	0.005	0.63226	D	0.004	0.74150	D	0.993	0.65571	D	0.914	0.64984	D	0.000191	0.48115	D	0.214248	0.999992	0.58761	D	3.295	0.90403	M	-3.24	0.93474	D	-3.8	0.71762	D	0.479	0.51405	0.635	0.92351	D	0.815	0.93762	D	10	0.010312349	0.00230	T	.	.	.	0.617	0.85091	.	.	0.75816328593	0.75596	0.8591040570486586	0.85873	0.562199136675	0.52709	0.46896559	0.34537	T	0.611295	0.87685	D	-0.126797	0.32016	T	0.064012	0.74511	D	0.0702451492061873	0.08685	T	0.859214	0.57909	D	0.36967725	0.58561	0.25877097	0.51614	0.36967725	0.58561	0.25877097	0.51614	-10.768	0.78371	D	.	.	0.137	0.59793	B	.;.;.;.;.	.;.;.;.;.	3.780202	0.54344	23.5	0.99754621397988297	0.84537	0.99435	0.95993	D	AEFDBI	0.615801	0.60260	D	0.564090470159797	0.70946	5.576559	0.454748469421478	0.65023	4.771481	0.999999926387031	0.74766	0.718356	0.82227	0	0.670034	0.63936	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	5.16	5.16	0.70563	5.603000	0.67304	3.811000	0.39910	0.454000	0.21428	0.980000	0.35271	0.995000	0.32472	0.069000	0.16583	0.0:1.0:0.0:0.0	18.230	0.89869	867	0.32089	SLC26A/SulP transporter domain;SLC26A/SulP transporter domain;SLC26A/SulP transporter domain;SLC26A/SulP transporter 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	1081.98	33	chr17	80237084	.	C	T	1081.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.300;DP=805;ExcessHet=0.0000;FS=0.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=-3.410e-01;SOR=0.562	GT:AD:DP:GQ:PL	0/1:58,44:102:99:1096,0,1594	20	0	1	0
chr17	80251341	80251341	C	T	exonic	SLC26A11	.	nonsynonymous SNV	SLC26A11:NM_001166348:exon16:c.C1669T:p.R557C	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.998	D	0.809	P	0.351	N	1.000	N	1.67	L	-2.47	D	-0.398	T	0.413	T	0.374	1.486	10.91	3.01	1.193	0.747	4.944	0.345	.	0.0103	0.0115815	0.0031	0.0345	0.0011	0	0	5.994e-05	0	0	0.0029624	458	154602	rs80293861	0.0010	0.0010	0.0011	0.0009	0.0332	0.0009	0.0009	0.0315	0.0309	0.0332	0.0023	0	0	5.617e-05	0.0010	6.025e-05	0.0022	0.0001	0.0095	0.0096	0.0101	0.0090	0.0332	0.0091	0.0090	0.0317	0.0311	0.0332	0	0.0039	0	0	9.413e-05	0.0034	5.88e-05	0.0057	0	0.027	0.46513	D	0.043	0.49942	D	0.998	0.73220	D	0.809	0.58564	P	0.350956	0.13816	N	0.731071	0.999985	0.18198	N	2.505	0.72935	M	-2.47	0.88997	D	-3.89	0.72820	D	0.559	0.67132	-0.3977	0.72100	T	0.413	0.76109	T	10	0.0074989498	0.00170	T	.	.	.	0.345	0.66676	.	.	0.772969789451	0.77088	0.34807268726561874	0.34721	0.546565286845	0.51647	0.38017603755	0.22281	T	0.454518	0.79404	T	-0.27081	0.11668	T	-0.135317	0.60522	T	0.0533155063460791	0.06073	T	0.934906	0.75551	D	0.15669112	0.35347	0.13197486	0.31680	0.15669112	0.35347	0.13197486	0.31679	-9.729	0.72273	D	.	.	0.127	0.27039	B	.;.;.;.	.;.;.;.	5.170194	0.86660	29.0	0.91439834167034395	0.20708	0.06467	0.12475	N	AEFDBI	0.040583	0.06057	N	0.10172130361871	0.46542	2.893039	0.00744784722571219	0.40060	2.384809	0.149529018604441	0.17416	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.2	3.01	0.33872	1.660000	0.37013	5.666000	0.49237	0.591000	0.32079	0.782000	0.29497	0.978000	0.30204	0.783000	0.37026	0.1693:0.6087:0.0:0.222	4.944	0.13331	878	0.29785	STAS domain|STAS domain;STAS domain|STAS domain;STAS domain|STAS domain;STAS domain|STAS 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	479.98	35	chr17	80251341	.	C	T	479.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.185;DP=730;ExcessHet=0.0000;FS=1.115;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=0.882;SOR=0.899	GT:AD:DP:GQ:PL	0/1:25,21:46:99:494,0,602	20	0	1	0
chr17	80336256	80336256	G	C	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon23:c.G4405C:p.V1469L,	.	.	0	1521	1	0	0	1	0.000328623	.	.	715793	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.07	T	0.99	D	0.858	P	.	.	1.000	D	2.255	M	.	.	-0.504	T	0.178	T	0.616	1.476	10.88	4.5	1.313	5.609	14.005	0.242	.	0.0103	0.0105831	0.0030	0.0270	0.0065	0	0	0	0.0060	0	0.0009702	150	154602	rs116694967	0.0010	0.0009	0.0011	0.0008	0.0337	0.0009	0.0009	0.0320	0.0313	0.0337	0.0020	0	0	0	0.0018	5.932e-05	0.0020	0.0002	0.0100	0.0100	0.0102	0.0097	0.0339	0.0095	0.0094	0.0324	0.0318	0.0339	0	0.0056	0	0	0	0	4.41e-05	0.0090	0.0004	0.027	0.46513	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.798166	0.34475	D	.	.	.	1.65	0.27822	T	-2.61	0.56144	D	0.55	0.57604	-0.5037	0.68516	T	0.178	0.52318	T	8	0.0087476075	0.00198	T	.	.	.	0.242	0.54781	.	.	0.384086055536	0.38021	.	.	0.330047145895	0.35094	0.512175440788	0.40526	T	0.159231	0.55922	T	-0.35855	0.04213	T	-0.262742	0.48549	T	0.0664154876685062	0.08138	T	0.862414	0.55771	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	0.51917	B	.;.	.;.	2.445274	0.31476	18.75	0.78815816406087535	0.12465	0.98552	0.84009	D	AEFBI	0.640723	0.61831	D	0.482948651418825	0.66095	4.905945	0.405503467591139	0.61905	4.397576	0.62225105749941	0.21896	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.47	4.5	0.54382	5.717000	0.68096	4.391000	0.43214	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.185000	0.21450	0.073:0.0:0.9269:0.0	14.005	0.63972	862	0.33134	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	2218.98	42	chr17	80336256	.	G	C	2218.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.15;DP=916;ExcessHet=0.0000;FS=3.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=0.920;SOR=1.036	GT:AD:DP:GQ:PL	0/1:78,80:158:99:2233,0,1889	20	0	1	0
chr17	81438420	81438420	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001291324:exon4:c.G409A:p.V137M	.	.	319	1195	8	0	0	8	0.00333611	.	.	2818083	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.002	B	0.002	B	.	.	0.841	N	-0.69	N	3.03	T	-0.941	T	0.005	T	0.232	-0.069	3.662	2.83	0.670	5.602	4.646	0.096	.	0.0055	0.00219649	0.0057	0.0014	0.0024	0.0003	0.0124	0.0075	0.0087	0.0035	0.00489	756	154602	rs75661873	0.0059	0.0060	0.0059	0.0059	0.0085	0.0058	0.0057	0.0067	0.0066	0.0011	0.0027	0.0088	0.0001	0.0101	0.0085	0.0070	0.0055	0.0032	0.0051	0.0051	0.0052	0.0050	0.0072	0.0048	0.0047	0.0067	0.0065	0.0012	0	0.0046	0.0104	0.0002	0.0085	0.0204	0.0072	0.0066	0.0029	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	0.840868	0.28632	N	-0.755	0.01709	N	3.03	0.08898	T	1.1	0.01229	N	0.313	0.35301	-0.9413	0.42410	T	0.005	0.01688	T	9	0.0061863363	0.00139	T	.	.	.	0.096	0.27654	.	.	0.0138822411134	0.00435	0.20091862164173702	0.20008	0.0873387397924	0.09851	0.366248965263	0.20293	T	0.078304	0.35860	T	-0.583404	0.00184	T	-0.59912	0.12884	T	0.00727181867578652	0.00083	T	0.838616	0.53896	T	0.033860583	0.03689	0.10111662	0.24197	0.033860583	0.03689	0.10111662	0.24196	-4.03	0.24251	T	.	.	0.086	0.20780	B	.;.	.;.	2.616280	0.33994	19.50	0.14097250936999792	0.00299	0.33429	0.24826	N	AEFDB	0.080059	0.16180	N	-0.604303778455982	0.18814	0.9798096	-0.381360150984406	0.25553	1.405957	0.999992633549287	0.74766	0.646311	0.45356	0	0.578056	0.33634	0	0.603688	0.36954	0	0.699875	0.68795	0	.	.	3.87	2.83	0.32150	3.292000	0.51478	7.081000	0.57472	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7893:0.0:0.2107:0.0	4.646	0.11956	.	.	.;.	.	.	.	.	rs75661873	Uncertain significance	0	0	0	0	0	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	2482.98	33	chr17	81438420	.	G	A	2482.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.75;DP=893;ExcessHet=0.0000;FS=1.737;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=1.53;SOR=0.556	GT:AD:DP:GQ:PL	0/1:103,97:200:99:2497,0,2361	20	0	1	0
chr17	81551974	81551974	G	A	exonic	FAAP100	.	nonsynonymous SNV	FAAP100:NM_025161:exon2:c.C244T:p.R82W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.802	P	.	.	0.878	N	1.04	L	3.36	T	-1.029	T	0.028	T	0.384	3.841	19.51	-0.42	0.004	-0.057	13.639	0.067	0.063285863605	.	.	3.191e-05	0	0	0	0	6.223e-05	0	0	6.5e-06	1	154602	rs760075135	1.132e-05	1.642e-05	1.405e-05	8.556e-06	0.0002	6.7e-06	5.43e-06	6.61e-06	5.1e-06	0	0	0	2.764e-05	0	0.0002	1.185e-05	1.7e-05	0	1.973e-05	1.971e-05	1.285e-05	2.693e-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	0.009	0.57480	D	0.05	0.48080	T	0.998	0.73220	D	0.802	0.58266	P	.	.	.	.	0.999999	0.28096	N	1.525	0.38595	L	3.36	0.05918	T	-3.27	0.65512	D	0.278	0.31478	-1.0292	0.20713	T	0.028	0.11971	T	9	0.2083295	0.37159	T	0.063286	0.68919	D	0.067	0.19503	0.442	0.49811	0.314716216878	0.31082	0.43544822086910484	0.43461	0.376993164166	0.39134	.	.	.	0.21637	0.57851	T	-0.187777	0.22586	T	-0.507505	0.21572	T	0.762088596820831	0.43971	D	0.762924	0.38892	T	0.088309176	0.20596	0.21493237	0.46063	0.088309176	0.20596	0.21493237	0.46062	-10.136	0.74722	D	.	.	0.162	0.35767	B	.	.	2.827399	0.37262	20.5	0.99830188674684139	0.91198	0.11389	0.16601	N	AEFDBHCI	0.176015	0.30321	N	-0.403791389213669	0.25336	1.374599	-0.555795304274889	0.20652	1.113643	0.999998782132037	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.581474	0.35302	0	.	.	4.64	-0.42	0.11721	-0.171000	0.09872	1.772000	0.28642	-0.198000	0.09030	0.000000	0.06391	0.006000	0.19429	0.696000	0.34018	0.0:0.6525:0.3475:0.0	13.639	0.61709	.	.	.	.	.	.	.	.	Uncertain significance	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	346.98	34	chr17	81551974	.	G	A	346.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.850e-01;DP=747;ExcessHet=0.0000;FS=4.748;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.64;ReadPosRankSum=-1.433e+00;SOR=1.152	GT:AD:DP:GQ:PL	0/1:20,16:36:99:361,0,477	20	0	1	0
chr18	2732448	2732448	G	A	exonic	SMCHD1	.	nonsynonymous SNV	SMCHD1:NM_015295:exon25:c.G3232A:p.E1078K,	Bosma arhinia microphthalmia syndrome, Autosomal dominant;Fascioscapulohumeral muscular dystrophy 2, digenic	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.919	P	0.395	B	0.000	D	0.960	D	1.155	L	1.86	T	-1.106	T	0.063	T	0.774	3.215	16.77	5.27	2.437	5.163	18.885	0.179	0.0252814111583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.18371	T	0.046	0.49120	D	0.919	0.50927	P	0.395	0.44317	B	0.000043	0.53742	D	0.122583	0.960458	0.38181	D	1.175	0.29870	L	1.86	0.24285	T	-1.2	0.30555	N	0.386	0.42737	-1.1062	0.03417	T	0.063	0.26244	T	10	0.31736785	0.49147	T	0.025281	0.48255	D	0.179	0.44899	0.395	0.42099	0.171220215726	0.16700	0.5070269732976612	0.50624	0.249247192868	0.27497	0.647655010223	0.59653	T	0.118561	0.43946	T	0.0465045	0.57891	T	-0.170976	0.57354	T	0.877296686172485	0.52719	D	0.840116	0.51512	T	0.23279612	0.46073	0.16777822	0.38688	0.23279612	0.46073	0.16777822	0.38688	-6.096	0.47076	T	0.16198928617406946	0.19868	0.217	0.44720	B	.	.	3.509325	0.49139	22.7	0.99874730886920349	0.95160	0.90737	0.52166	D	AEFGBI	0.383586	0.46503	N	0.400945318371357	0.61476	4.349073	0.476679891659967	0.66448	4.953359	0.999639206483282	0.41205	0.732398	0.92422	0	0.724815	0.89359	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.27	5.27	0.73797	5.240000	0.65201	11.860000	0.98299	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.885	0.92343	561	0.71236	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07895	153.77	59	chr18	2732448	.	G	A	153.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.508e+00;DP=1240;ExcessHet=0.3300;FS=224.230;InbreedingCoeff=-0.1187;MLEAC=3;MLEAF=0.079;MQ=60.00;MQRankSum=0.00;QD=0.55;ReadPosRankSum=2.56;SOR=8.885	GT:AD:DP:GQ:PL	0/1:67,29:96:57:57,0,1137	16	0	3	2
chr18	2920363	2920363	C	A	exonic	LPIN2	.	nonsynonymous SNV	LPIN2:NM_001375808:exon20:c.G2621T:p.C874F	Majeed syndrome	.	0	1481	39	2	0	43	0.0143095	.	.	232039	LPIN2-related_disorder|Autoinflammatory_syndrome|not_provided|Majeed_syndrome	.|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900|MONDO:MONDO:0012316,MedGen:C1864997,OMIM:609628,Orphanet:77297	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.011	B	0.015	B	0.000	D	1.000	D	1.52	L	-1.41	T	-0.431	T	0.384	T	0.428	1.477	10.88	4.74	2.804	1.590	14.305	0.362	0.0242335918851	0.0002	0.00179712	0.0015	9.701e-05	0.0002	0	0	0.0004	0.0022	0.0088	0.0012807	198	154602	rs201160155	0.0008	0.0008	0.0006	0.0011	0.0092	0.0008	0.0008	0.0087	0.0085	0.0001	0.0002	0.0002	2.519e-05	0	0.0057	0.0003	0.0011	0.0092	0.0004	0.0004	0.0003	0.0006	0.0087	0.0003	0.0003	0.0066	0.0059	2.405e-05	0	6.533e-05	0	0	0	0.0034	0.0003	0.0005	0.0087	0.205	0.20002	T	0.71	0.05525	T	0.011	0.15914	B	0.015	0.17295	B	0.000167	0.48594	D	0.270733	0.999983	0.54805	D	2.12	0.58754	M	-1.41	0.80560	T	-6.6	0.92042	D	0.258	0.29197	-0.4306	0.71047	T	0.384	0.74002	T	10	0.008627355	0.00195	T	0.024234	0.47226	T	0.362	0.68230	.	.	0.416204396243	0.41236	0.8197850407621243	0.81935	0.360878218772	0.37748	0.71268081665	0.68982	T	0.325968	0.69663	T	-0.283188	0.10333	T	-0.172875	0.57180	T	0.0576534892228963	0.06794	T	0.89551	0.63622	D	0.47934437	0.65860	0.48347694	0.70096	0.47934437	0.65861	0.48347694	0.70096	-8.199	0.62419	D	0.09303421256937064	0.06075	0.101	0.17657	B	.	.	3.219975	0.43869	21.8	0.90758231324376637	0.20008	0.91134	0.52927	D	AEFDGBCI	0.578082	0.57943	D	0.0216641723337433	0.42839	2.588929	0.191777639853672	0.49395	3.143227	0.999999985977376	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.62	4.74	0.59717	1.656000	0.36971	4.817000	0.45088	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9287:0.0:0.0713	14.305	0.65932	804	0.43891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1205.98	35	chr18	2920363	.	C	A	1205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.768e+00;DP=860;ExcessHet=0.0000;FS=3.880;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=-2.740e-01;SOR=0.365	GT:AD:DP:GQ:PL	0/1:49,49:98:99:1220,0,1334	20	0	1	0
chr18	5415888	5415888	T	G	exonic	EPB41L3	.	nonsynonymous SNV	EPB41L3:NM_001384685:exon13:c.A2051C:p.Y684S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.895	P	0.502	P	0.001	D	1.000	D	0.895	L	-2.06	D	-0.357	T	0.427	T	0.721	2.858	15.52	3.04	0.341	2.808	7.935	0.618	0.052227902183	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1439944194	2.737e-06	2.736e-06	2.723e-06	2.751e-06	0.0002	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0.0002	8.993e-07	1.657e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.041	0.50514	D	0.895	0.49247	P	0.502	0.47702	P	0.000996	0.40743	D	0.166519	0.99999	0.81001	D	2.175	0.60977	M	-2.06	0.85875	D	-2.23	0.50012	N	0.619	0.63459	-0.3575	0.73336	T	0.427	0.77002	T	10	0.57266027	0.65405	D	0.052228	0.64984	D	0.618	0.85144	0.6	0.73105	0.894121766158	0.89307	0.7652202361605717	0.76471	0.363663983973	0.37991	0.704193472862	0.67751	T	0.278315	0.65097	T	0.205666	0.74422	D	0.0576479	0.74088	D	0.884654223918915	0.53491	D	0.859714	0.55187	D	0.34237137	0.56467	0.38776368	0.63637	0.34237137	0.56467	0.38776368	0.63637	-0.786	0.00791	T	.	.	0.592	0.68540	P	.	.	3.410080	0.47304	22.4	0.96909516925145123	0.31570	0.95888	0.66586	D	AEFGBI	0.768623	0.70413	D	0.119303238698462	0.47363	2.963104	0.158387136801594	0.47588	2.986797	0.999563024500655	0.40425	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.52	3.04	0.34171	2.790000	0.47512	4.236000	0.42680	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1221:0.0676:0.0:0.8103	7.935	0.29085	818	0.41518	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	955.98	34	chr18	5415888	.	T	G	955.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=775;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=1.54;SOR=0.663	GT:AD:DP:GQ:PL	0/1:50,38:88:99:970,0,1309	20	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	89848.01	520	chr18	9887397	.	C	T,*	89848.01	.	AC=14,15;AF=0.333,0.357;AN=42;BaseQRankSum=1.52;DP=12043;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=14,15;MLEAF=0.333,0.357;MQ=59.66;MQRankSum=-1.550e-01;QD=11.05;ReadPosRankSum=-6.600e-02;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:1,264,183:448:99:.:.:14038,7224,8412,7310,0,9968	3	2	4	0
chr18	9887415	9887434	TGACATCCCCAAGTCCCCAG	0	exonic	TXNDC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	1383.0	520	chr18	9887415	.	TGACATCCCCAAGTCCCCAG	*,T	1383.0	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=4.88;DP=13456;ExcessHet=0.8717;FS=0.518;InbreedingCoeff=-0.0096;MLEAC=15,1;MLEAF=0.395,0.026;MQ=59.70;MQRankSum=0.190;QD=0.26;ReadPosRankSum=0.247;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:190,183,0:481:99:.:.:6840,0,10276,9283,10621,28135	7	3	8	2
chr18	9887416	9887434	GACATCCCCAAGTCCCCAG	-	exonic	TXNDC2	.	frameshift deletion	TXNDC2:NM_001098529:exon2:c.937_955del:p.D313Kfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.788e-06	8.288e-06	8.77e-06	6.777e-06	5.157e-05	3.24e-06	2.08e-06	2.14e-06	1.55e-06	5.157e-05	0	0	3.633e-05	0	0	7.303e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	1383.0	520	chr18	9887415	.	TGACATCCCCAAGTCCCCAG	*,T	1383.0	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=4.88;DP=13456;ExcessHet=0.8717;FS=0.518;InbreedingCoeff=-0.0096;MLEAC=15,1;MLEAF=0.395,0.026;MQ=59.70;MQRankSum=0.190;QD=0.26;ReadPosRankSum=0.247;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:190,183,0:481:99:.:.:6840,0,10276,9283,10621,28135	7	3	8	2
chr18	12814235	12814235	C	T	exonic	PTPN2	.	nonsynonymous SNV	PTPN2:NM_001308287:exon6:c.G739A:p.A247T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.794	P	0.216	B	0.002	N	1.000	D	2.125	M	3.61	T	-1.134	T	0.021	T	0.559	3.885	19.75	5.86	2.771	3.660	14.969	0.102	0.00876789102268	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207461588	6.903e-07	3.421e-06	0	1.387e-06	1.18e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.18e-05	1.314e-05	1.314e-05	0	2.691e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.039	0.54934	D	0.535	0.43786	P	0.192	0.37572	B	0.001669	0.38326	N	0.115428	0.999173	0.51042	D	3.2	0.89116	M	3.59	0.08547	T	-3.58	0.69477	D	0.344	0.41261	-1.1337	0.01613	T	0.021	0.08917	T	10	0.35547003	0.52307	T	0.008768	0.23147	T	0.102	0.29158	0.427	0.47350	0.372852800391	0.36900	0.6334288060791295	0.63276	0.105728612331	0.11951	0.501613557339	0.39053	T	0.381024	0.74343	T	-0.0684986	0.41567	T	-0.33617	0.40778	T	0.963272750377655	0.66611	D	0.937806	0.76632	D	0.35962412	0.57807	0.25244695	0.50874	0.35962412	0.57808	0.25244695	0.50873	-9.242	0.69757	D	.	.	0.158	0.47524	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.106374	0.61274	24.3	0.99791293313253737	0.87661	0.97939	0.78280	D	AEFDGBI	0.505265	0.53649	D	0.395752582900315	0.61191	4.316961	0.491495573655148	0.67425	5.082329	0.999999940755575	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.86	5.86	0.93936	3.760000	0.54947	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1426:0.8574:0.0:0.0	14.969	0.70864	746	0.52331	.;.;.;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.225	1024.34	23	chr18	12814235	.	C	T	1024.34	.	AC=9;AF=0.225;AN=40;BaseQRankSum=-1.786e+00;DP=832;ExcessHet=4.7172;FS=190.289;InbreedingCoeff=-0.2940;MLEAC=9;MLEAF=0.225;MQ=59.98;MQRankSum=0.00;QD=2.05;ReadPosRankSum=0.165;SOR=10.577	GT:AD:DP:GQ:PL	0/1:42,24:66:99:130,0,593	11	0	9	1
chr18	13056047	13056047	G	A	exonic	CEP192	.	nonsynonymous SNV	CEP192:NM_032142:exon19:c.G3457A:p.V1153I,	.	.	428	1085	8	1	0	10	0.00458716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.021	B	0.015	B	0.010	N	1.000	N	1.1	L	1.77	T	-1.058	T	0.040	T	0.021	1.362	10.48	-4.07	-0.457	-0.260	0.937	0.021	.	0.0010	0.00379393	0.0028	0.0002	0.0009	0	0.0002	0.0011	0.0022	0.0149	0.0025097	388	154602	rs141618343	0.0018	0.0018	0.0014	0.0021	0.0145	0.0017	0.0017	0.0138	0.0135	0.0004	0.0011	0.0003	0	0.0002	0.0144	0.0009	0.0021	0.0145	0.0014	0.0014	0.0011	0.0017	0.0172	0.0013	0.0012	0.0142	0.0131	0.0002	0	0.0013	0.0003	0	0.0004	0.0136	0.0014	0.0019	0.0172	0.314	0.13834	T	0.337	0.30143	T	.	.	.	.	.	.	0.010325	0.01272	N	2.556060	1	0.08975	N	.	.	.	1.77	0.25841	T	-0.41	0.14000	N	0.04	0.02366	-1.0580	0.12260	T	0.040	0.17020	T	10	0.0037399232	0.00069	T	.	.	.	0.021	0.04004	.	.	0.156986980423	0.15292	0.06779668929458785	0.06717	0.0833867563947	0.09409	0.205888345838	0.00649	T	0.016769	0.14695	T	-0.705934	0.00034	T	-0.773828	0.02644	T	0.00108643784687087	0.00010	T	0.686731	0.29555	T	0.018338816	0.00355	0.016219571	0.00014	0.018338816	0.00355	0.016219571	0.00014	-3.878	0.21973	T	.	.	0.104	0.18663	B	.;.;.	.;.;.	-0.245628	0.02866	0.406	0.84205198551874982	0.15157	0.05115	0.10919	N	AEFDBI	0.029584	0.02819	N	-1.13082631772311	0.06101	0.2799629	-1.22733001643063	0.05475	0.2609594	0.902775698442884	0.26135	0.67177	0.52595	0	0.702456	0.74545	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.41	-4.07	0.03707	-0.245000	0.08908	-0.053000	0.12521	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.4395:0.1795:0.1664:0.2146	0.937	0.01261	466	0.78352	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	4002.98	34	chr18	13056047	.	G	A	4002.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.824e+00;DP=1120;ExcessHet=0.0000;FS=0.902;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=0.239;SOR=0.758	GT:AD:DP:GQ:PL	0/1:129,158:287:99:4017,0,3519	20	0	1	0
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q,	.	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.455	P	0.137	B	.	.	1.000	N	1.495	L	1.38	T	-1.046	T	0.060	T	0.15	-1.338	0.030	-0.976	-0.290	0.960	4.177	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	6662.91	35	chr18	14513679	.	T	G	6662.91	.	AC=12;AF=0.286;AN=42;BaseQRankSum=4.54;DP=3722;ExcessHet=9.6308;FS=15.336;InbreedingCoeff=-0.4158;MLEAC=12;MLEAF=0.286;MQ=50.97;MQRankSum=-9.346e+00;QD=2.29;ReadPosRankSum=-3.404e+00;SOR=2.155	GT:AD:DP:GQ:PL	0/1:265,31:296:94:94,0,6851	9	0	12	0
chr18	23949813	23949813	G	C	exonic	LAMA3	.	nonsynonymous SNV	LAMA3:NM_001127718:exon33:c.G4405C:p.D1469H	Epidermolysis bullosa, generalized atrophic benign, Autosomal recessive;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Laryngoonychocutaneous syndrome, Autosomal recessive	YES	2	1511	8	1	0	10	0.00329815	.	.	879021	Laryngo-onycho-cutaneous_syndrome|not_provided|Junctional_epidermolysis_bullosa_gravis_of_Herlitz	MONDO:MONDO:0009513,MedGen:C1328355,OMIM:245660,Orphanet:2407|MedGen:C3661900|MONDO:MONDO:0009182,MedGen:C0079683,OMIM:226700,Orphanet:79404	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.26	T	0.999	D	0.937	D	.	.	0.964	N	1.635	L	-0.16	T	-0.753	T	0.303	T	0.39	3.092	16.33	0.86	-0.127	0.027	10.312	0.346	0.0355096385823	0.0006	0.000599042	0.0007	0.0002	8.637e-05	0	0	0.0011	0.0033	0.0007	0.000705	109	154602	rs139393524	0.0007	0.0007	0.0007	0.0007	0.0038	0.0006	0.0006	0.0026	0.0022	0.0004	0.0006	0.0009	5.038e-05	3.744e-05	0.0038	0.0007	0.0008	0.0007	0.0006	0.0006	0.0007	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	0.0001	0	0.0005	0.0014	0	0	0	0.0010	0.0024	0.0008	0.121	0.59928	T	0.028	0.55759	D	.	.	.	.	.	.	.	.	.	.	0.995249	0.26011	N	.	.	.	-0.16	0.65378	T	-2.22	0.49846	N	0.276	0.38643	-0.7526	0.57799	T	0.303	0.67409	T	9	0.03188944	0.01331	T	0.03551	0.56390	D	0.346	0.66769	.	.	0.616529249647	0.61343	0.7277504356948739	0.72719	0.572525695287	0.53339	0.339538484812	0.16368	T	0.030009	0.21373	T	-0.322771	0.06674	T	-0.292763	0.45485	T	0.0319072349219408	0.02290	T	0.878012	0.59262	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.53087	B	.;.;.;.;.	.;.;.;.;.	2.779719	0.36511	20.3	0.99001969870391482	0.50168	0.70410	0.34579	D	AEFDBCI	0.315249	0.41988	N	0.0229069999696321	0.42897	2.593477	-0.0874878041871289	0.35907	2.082989	0.964077858684368	0.28734	0.638212	0.43195	0	0.588066	0.40923	0	0.735289	0.94003	0	0.668105	0.65232	0	.	.	5.69	0.86	0.18179	0.234000	0.17708	1.329000	0.25656	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.993000	0.69303	0.5005:0.0:0.4995:0.0	10.312	0.42898	528	0.73785	.;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	.	.	.	.	.	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	970.98	35	chr18	23949813	.	G	C	970.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.64;DP=789;ExcessHet=0.0000;FS=3.277;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=0.031;SOR=1.136	GT:AD:DP:GQ:PL	0/1:41,36:77:99:985,0,996	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	0/1:29,20:51:99:174,0,561	1	0	20	0
chr18	52925329	52925329	A	C	exonic	DCC	.	nonsynonymous SNV	DCC:NM_005215:exon5:c.A944C:p.K315T,	Colorectal cancer, somatic;Esophageal carcinoma, somatic;Mirror movements 1, Autosomal dominant	YES	0	1516	5	1	0	7	0.00230339	.	.	741402	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.42	T	0.01	B	0.02	B	0.000	D	1.000	D	1.045	L	-0.3	T	-0.871	T	0.198	T	0.712	2.116	13.03	5.93	2.270	4.143	15.370	0.135	.	7.7e-05	0.00459265	0.0024	9.614e-05	8.691e-05	0	0	0	0.0011	0.0175	0.0021216	328	154602	rs145827180	0.0009	0.0009	0.0005	0.0013	0.0142	0.0008	0.0008	0.0135	0.0132	8.979e-05	4.477e-05	0	0	0	0.0003	3.6e-06	0.0011	0.0142	0.0004	0.0004	0.0002	0.0006	0.0126	0.0003	0.0003	0.0101	0.0092	2.406e-05	0	0	0	0	0	0	0	0	0.0126	0.437	0.09346	T	0.52	0.10465	T	0.01	0.15535	B	0.02	0.19048	B	0.000021	0.62929	D	0.065361	0.954541	0.37882	D	0.355	0.11969	N	-0.3	0.67874	T	-1.3	0.32590	N	0.617	0.63289	-0.8709	0.50462	T	0.198	0.55386	T	10	0.009410381	0.00212	T	.	.	.	0.135	0.36572	.	.	0.866368268403	0.86506	0.5359516127712904	0.53520	0.225769521978	0.25129	0.722954630852	0.70477	T	0.055847	0.30120	T	-0.266565	0.12143	T	-0.142705	0.59883	T	0.041191281401362	0.03907	T	0.754824	0.37774	T	0.19488521	0.41256	0.1528279	0.35939	0.22484724	0.45135	0.114491284	0.27636	-4.002	0.23834	T	.	.	0.505	0.64790	A	.;.	.;.	3.785176	0.54452	23.5	0.97481117985891241	0.34188	0.89207	0.49534	D	AEGI	0.565635	0.57194	D	-0.0768006228001734	0.38413	2.249329	0.141601694517412	0.46701	2.911671	0.0333435951975957	0.14101	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.93	5.93	0.95888	4.310000	0.58934	9.208000	0.79221	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.370	0.74270	568	0.70638	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	1	0	0	0	0	0	0	0	0	0	0	0.02381	1705.98	33	chr18	52925329	.	A	C	1705.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.477;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.83;ReadPosRankSum=-7.670e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/1:49,66:115:99:1720,0,1157	20	0	1	0
chr18	54294201	54294201	G	C	exonic	POLI	.	nonsynonymous SNV	POLI:NM_001351616:exon8:c.G1594C:p.V532L	.	.	432	1082	8	0	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.441	B	0.138	B	0.214	N	0.959	N	2.14	M	0.45	T	-0.975	T	0.146	T	0.09	0.903	8.672	3.35	0.641	0.511	8.395	0.062	.	0.0002	0.0091853	0.0036	0.0002	0.0002	0.0022	0	1.507e-05	0.0011	0.0247	0.0032276	499	154602	rs142279753	0.0016	0.0016	0.0010	0.0022	0.0244	0.0015	0.0015	0.0235	0.0231	0.0001	2.239e-05	0	0.0008	0	0.0017	1.35e-05	0.0025	0.0244	0.0011	0.0011	0.0006	0.0016	0.0296	0.0009	0.0009	0.0257	0.0242	0.0002	0	0.0002	0	0.0013	0	0	0	0.0005	0.0296	0.005	0.63226	D	0.051	0.47828	T	0.441	0.35913	B	0.138	0.33406	B	0.213739	0.16303	N	0.618321	0.958977	0.26204	N	2.015	0.55033	M	0.73	0.56446	T	-0.82	0.22508	N	0.041	0.07949	-0.9750	0.36125	T	0.146	0.47092	T	10	0.0027565658	0.00043	T	.	.	.	0.062	0.17934	0.15	0.05339	0.612054658674	0.60893	0.18768033341767634	0.18686	0.0126781612516	0.01211	0.346217244864	0.17363	T	0.058825	0.30947	T	-0.523803	0.00418	T	-0.506259	0.21701	T	0.0157585777557027	0.00366	T	0.888211	0.61727	D	0.05422311	0.10372	0.05948035	0.11171	0.05422311	0.10372	0.05948035	0.11170	-3.511	0.16586	T	.	.	0.087	0.33086	B	.;.;.;.	.;.;.;.	1.113367	0.14988	11.49	0.92615723404452799	0.22082	0.21516	0.21429	N	AEFGBCI	0.117917	0.23079	N	-0.309994150378662	0.28768	1.589515	-0.320464119950474	0.27438	1.522526	0.974199140291195	0.29521	0.732398	0.92422	0	0.709663	0.81188	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.2	3.35	0.37468	0.526000	0.22680	3.241000	0.36966	0.618000	0.50648	0.003000	0.16062	1.000000	0.68203	0.976000	0.56436	0.0:0.1515:0.5358:0.3127	8.395	0.31709	612	0.66786	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2511.98	33	chr18	54294201	.	G	C	2511.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.400e-01;DP=934;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.22;ReadPosRankSum=0.746;SOR=0.723	GT:AD:DP:GQ:PL	0/1:71,94:165:99:2526,0,1790	20	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.073	N	0.983	D	-3.46	N	1.84	T	-0.904	T	0.008	T	0.124	-0.621	1.242	3.76	1.045	2.422	13.494	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	4590.35	69	chr18	65824683	.	C	G	4590.35	.	AC=20;AF=0.500;AN=40;BaseQRankSum=0.297;DP=1960;ExcessHet=43.6797;FS=200.513;InbreedingCoeff=-0.9189;MLEAC=20;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.74;ReadPosRankSum=1.02;SOR=12.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,28:102:99:.:.:271,0,1342	0	0	20	1
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	0/1:59,51:110:99:1439,0,1608	19	0	2	0
chr19	110747	110747	-	T	exonic	OR4F17	.	frameshift insertion	OR4F17:NM_001005240:exon3:c.70dupT:p.V26Cfs*20,	.	.	454	1047	21	0	0	21	0.00992908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061	0.00479233	0.0060	0.0013	0.0060	0	0.0026	0.0078	0.0033	0.0065	0.0004786	74	154602	rs560302340	0.0052	0.0082	0.0053	0.0051	0.0057	0.0051	0.0050	0.0056	0.0055	0.0006	0.0046	0.0084	5.04e-05	0.0016	0.0046	0.0057	0.0047	0.0051	0.0040	0.0060	0.0043	0.0038	0.0067	0.0038	0.0037	0.0055	0.0052	0.0008	0.0011	0.0066	0.0099	0	0.0008	0.0069	0.0057	0.0067	0.0067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	875.94	34	chr19	110747	.	G	GT	875.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=989;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=34.72;MQRankSum=-1.391e+00;QD=3.34;ReadPosRankSum=1.83;SOR=0.688	GT:AD:DP:GQ:PL	0/1:208,54:262:99:890,0,5688	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	1/1:4,63,0,0:67:30:.:.:2506,30,0,2527,189,2685,2527,189,2685,2685	1	10	5	0
chr19	1529419	1529419	C	T	exonic	PLK5	.	nonsynonymous SNV	PLK5:NM_001243079:exon10:c.C419T:p.A140V,	.	.	366	1137	18	1	0	20	0.0087184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0.0099	0	0	0	0	0.0014	0.0227	0.0152	0.0011772	182	154602	rs138626853	0.0021	0.0020	0.0016	0.0025	0.0141	0.0020	0.0020	0.0134	0.0131	0.0002	0.0013	0.0017	2.799e-05	0.0001	0.0068	0.0014	0.0021	0.0141	0.0014	0.0014	0.0013	0.0015	0.0097	0.0013	0.0012	0.0075	0.0067	0.0003	0	0.0012	0.0017	0.0002	0.0004	0.0068	0.0019	0.0009	0.0097	.	.	.	.	.	.	0.002	0.14655	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	3.19	0.08810	T	.	.	.	0.015	0.00203	.	.	.	.	.	.	.	0.0056942105	0.00126	T	.	.	.	.	.	.	.	0.27479166964	0.27093	0.17516813675672804	0.17435	0.00214713130342	0.00184	0.292890459299	0.09345	T	0.004078	0.03492	T	-0.669511	0.00055	T	-0.722159	0.04692	T	.	.	.	0.376562	0.08996	T	0.012782279	0.00041	0.045038886	0.05971	0.012782279	0.00041	0.045038886	0.05971	-4.018	0.24683	T	.	.	0.082	0.09239	B	.;.;.;.	.;.;.;.	0.867870	0.12404	8.941	0.57532546601426848	0.05790	0.01711	0.05430	N	AEFDGBIJ	0.031578	0.03406	N	.	.	.	.	.	.	3.47151690921339E-4	0.06626	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.66	0.102	0.13827	1.604000	0.36415	0.971000	0.23058	-1.110000	0.01493	0.009000	0.18154	0.554000	0.25484	0.000000	0.00833	0.4529:0.2256:0.1258:0.1957	0.697	0.00843	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	970.98	36	chr19	1529419	.	C	T	970.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=-4.750e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:37,41:78:99:985,0,772	20	0	1	0
chr19	1529822	1529822	C	T	exonic	PLK5	.	nonsynonymous SNV	PLK5:NM_001243079:exon11:c.C566T:p.P189L,	.	.	413	1100	9	0	0	9	0.00407424	0.0182	0.192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0093	0	0	0	0	0.03	0.0083	0.0006	0.0015524	240	154602	rs143475861	0.0063	0.0060	0.0064	0.0062	0.0079	0.0062	0.0061	0.0071	0.0068	0.0008	0.0078	0.0495	5.597e-05	0.0008	0.0079	0.0061	0.0077	0.0011	0.0050	0.0050	0.0052	0.0047	0.0070	0.0047	0.0046	0.0059	0.0055	0.0012	0	0.0070	0.0456	0	0.0008	0.0102	0.0060	0.0085	0.0006	.	.	.	.	.	.	0.054	0.22658	B	0.017	0.18140	B	.	.	.	.	0.999999	0.58761	D	1.725	0.44537	L	2.62	0.12988	T	.	.	.	0.071	0.10340	.	.	.	.	.	.	.	0.0034975111	0.00062	T	.	.	.	.	.	.	.	0.520749599713	0.51718	0.1981938709917924	0.19736	0.00211029390725	0.00180	0.353593289852	0.18450	T	0.047406	0.27715	T	-0.679522	0.00048	T	-0.744298	0.03712	T	.	.	.	0.254275	0.03911	T	0.03032282	0.02677	0.053915184	0.09172	0.03032282	0.02677	0.053915184	0.09171	-5.213	0.39376	T	.	.	0.071	0.06990	B	.;.;.;.	.;.;.;.	0.492982	0.08619	5.391	0.50454671985835731	0.04387	0.00845	0.03380	N	AEFDBI	0.049139	0.08460	N	.	.	.	.	.	.	8.72150788598135E-5	0.04703	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.94	-0.776	0.10430	-0.926000	0.04096	-0.091000	0.12058	-0.248000	0.07205	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1978:0.4577:0.0:0.3445	2.900	0.05353	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	960.98	36	chr19	1529822	.	C	T	960.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=810;ExcessHet=0.0000;FS=3.965;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=-1.750e-01;SOR=0.992	GT:AD:DP:GQ:PL	0/1:54,38:92:99:975,0,1295	20	0	1	0
chr19	3905580	3905580	G	A	exonic	ATCAY	.	nonsynonymous SNV	ATCAY:NM_033064:exon4:c.G283A:p.V95M,	Ataxia, cerebellar, Cayman type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	881961	Cayman_type_cerebellar_ataxia	MONDO:MONDO:0011025,MedGen:C1832585,OMIM:601238,Orphanet:94122	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.998	D	0.975	D	0.001	N	1.000	D	2.42	M	0.93	T	-0.493	T	0.269	T	0.61	4.528	24.4	4.77	2.206	7.251	16.839	0.232	0.0565323876434	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1381590154	2.668e-05	2.668e-05	2.45e-05	2.888e-05	4.472e-05	1.998e-05	1.754e-05	2.285e-05	2.023e-05	2.987e-05	4.472e-05	0	2.519e-05	0	0	3.148e-05	0	0	2.632e-05	2.627e-05	2.573e-05	2.694e-05	0.0001	8.15e-06	5.15e-06	2.272e-05	9.11e-06	2.415e-05	0	0.0001	0	0	0	0	1.471e-05	0	0	0.001	0.78490	D	0.01	0.72224	D	0.993	0.65571	D	0.951	0.68939	D	0.001105	0.40219	N	0.210703	0.998614	0.48141	D	2.82	0.82106	M	1.08	0.44461	T	-2.44	0.53420	N	0.776	0.78451	-0.4932	0.68894	T	0.269	0.64045	T	10	0.57537043	0.65549	D	0.056532	0.66639	D	0.232	0.53354	.	.	0.734756840749	0.73239	0.600362128630661	0.59967	1.16277109801	0.79540	0.902813792229	0.96746	D	0.426015	0.77594	T	-0.104975	0.35599	T	-0.219437	0.52791	T	0.812366664409637	0.47216	D	0.982102	0.93912	D	0.24581172	0.47543	0.26198924	0.51985	0.24581172	0.47543	0.26198924	0.51984	-6.582	0.50915	T	0.27686436895310473	0.37150	0.777	0.76259	P	.;.;.	.;.;.	5.031622	0.83695	28.1	0.99907888839208114	0.97801	0.96664	0.70285	D	AEFBI	0.895039	0.83464	D	0.749567294751913	0.82876	7.872536	0.698332341930515	0.82251	7.721236	0.999987049908568	0.51787	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	4.77	4.77	0.60425	7.369000	0.78835	11.096000	0.86022	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:0.0:1.0:0.0	16.839	0.85828	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	2472.98	35	chr19	3905580	.	G	A	2472.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=923;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=-9.380e-01;SOR=0.705	GT:AD:DP:GQ:PL	0/1:116,97:213:99:2487,0,2947	20	0	1	0
chr19	4171706	4171706	G	A	exonic	CREB3L3	.	nonsynonymous SNV	CREB3L3:NM_001271995:exon10:c.G1120A:p.A374T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.005	B	0.002	B	0.413	N	1.000	N	0.6	N	-1.61	D	-0.834	T	0.225	T	0.089	0.483	6.620	-2.13	-0.074	-2.775	3.155	0.127	0.0231714185166	.	.	4.245e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs759936269	2.122e-05	2.121e-05	4.086e-06	3.852e-05	0.0004	1.521e-05	1.325e-05	0.0003	0.0002	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.433	0.09458	T	0.658	0.06554	T	0.003	0.12996	B	0.001	0.06944	B	0.413436	0.04605	N	1.472120	1	0.08975	N	0.345	0.11182	N	-1.61	0.82254	D	-0.57	0.17210	N	0.018	0.00717	-0.8337	0.53061	T	0.225	0.58982	T	10	0.05925286	0.07093	T	0.023171	0.46115	T	0.143	0.38195	0.076	0.00544	0.791729933852	0.78979	0.22731955379755142	0.22646	0.0963055887176	0.10868	0.412785172462	0.26842	T	0.101008	0.40736	T	-0.397956	0.02388	T	-0.509089	0.21410	T	0.0279561801765651	0.01681	T	0.543046	0.18512	T	0.027418602	0.01931	0.043792672	0.05529	0.027418602	0.01930	0.043792672	0.05529	-4.007	0.23909	T	0.09066096476097817	0.05670	0.065	0.01986	B	.;.;.	.;.;.	-1.160806	0.00572	0.014	0.77808821292218533	0.12031	0.01741	0.05494	N	AEFBCI	0.225188	0.34931	N	-0.842547258560137	0.12233	0.5950804	-1.02245711657006	0.09292	0.4614585	9.64926006881165E-4	0.08067	0.516011	0.20929	0	0.610034	0.51514	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	3.53	-2.13	0.06745	-4.239000	0.00305	-2.753000	0.03397	0.590000	0.31872	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.3445:0.0:0.4671:0.1884	3.155	0.06113	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1519.98	33	chr19	4171706	.	G	A	1519.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.205e+00;DP=848;ExcessHet=0.0000;FS=1.374;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=-1.068e+00;SOR=0.833	GT:AD:DP:GQ:PL	0/1:75,61:136:99:1534,0,2055	20	0	1	0
chr19	4859619	4859619	G	T	exonic	PLIN3	.	nonsynonymous SNV	PLIN3:NM_001164189:exon4:c.C319A:p.L107I	.	.	416	1079	26	1	0	28	0.0128088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.999	D	0.005	U	0.977	N	2.055	M	3.04	T	-1.098	T	0.049	T	0.178	3.270	16.98	3.11	0.902	1.194	4.139	0.120	0.0111998595391	0.0035	0.00199681	0.0040	0.0009	0.0032	0	0	0.0056	0.0033	0.0041	0.0042108	651	154602	rs11552104	0.0047	0.0047	0.0047	0.0047	0.0146	0.0046	0.0046	0.0121	0.0111	0.0008	0.0027	0.0077	0	0.0004	0.0146	0.0052	0.0048	0.0039	0.0034	0.0034	0.0037	0.0030	0.0054	0.0032	0.0031	0.0050	0.0048	0.0007	0.0110	0.0033	0.0089	0.0002	0	0.0170	0.0054	0.0038	0.0031	0.0	0.91255	D	0.053	0.48080	T	1.0	0.90584	D	0.999	0.92359	D	0.005490	0.32753	U	0.204155	0.977048	0.25337	N	2.62	0.76659	M	3.04	0.08810	T	-1.81	0.42575	N	0.402	0.44283	-1.0979	0.04354	T	0.049	0.20868	T	10	0.011464447	0.00250	T	0.011	0.28580	T	0.120	0.33359	.	.	0.115124310173	0.11017	0.3354490691648278	0.33457	0.443632335628	0.44285	0.417411506176	0.27481	T	0.115009	0.43327	T	-0.515503	0.00467	T	-0.510926	0.21221	T	0.030477355265993	0.02063	T	0.872813	0.58047	D	0.39618346	0.60467	0.27863643	0.53826	0.39618346	0.60468	0.27863643	0.53825	-9.373	0.70097	D	.	.	0.121	0.35098	B	.;.;.;.;.	.;.;.;.;.	3.248576	0.44377	21.9	0.9952486459899893	0.69469	0.89251	0.49603	D	AEFDBI	0.220090	0.34489	N	0.340190083051879	0.58222	3.993413	0.245947758249608	0.52420	3.416867	0.656106833645402	0.22219	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.2	3.11	0.34883	1.023000	0.29668	2.486000	0.32962	0.569000	0.28856	0.740000	0.29026	0.997000	0.33255	0.875000	0.41745	0.0917:0.1605:0.5824:0.1654	4.139	0.09654	964	0.07719	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2122.11	94	chr19	4859619	.	G	T	2122.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.29;DP=851;ExcessHet=0.1072;FS=1.754;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=0.791;SOR=0.863	GT:AD:DP:GQ:PL	0/1:47,56:103:99:1363,0,1068	19	0	2	0
chr19	6937548	6937548	G	A	exonic	ADGRE1	.	nonsynonymous SNV	ADGRE1:NM_001256254:exon17:c.G2132A:p.R711Q	.	.	433	1088	1	0	0	1	0.000459348	.	.	3240876	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.55	T	0.966	D	0.368	B	.	.	0.745	N	1.425	L	0.41	T	-0.976	T	0.118	T	0.325	1.819	12.04	3.82	1.054	2.015	9.307	0.138	0.00376032641363	7.7e-05	0.000199681	0.0002	0	0.0002	0	0	0.0002	0	0.0007	0.0002199	34	154602	rs140342957	0.0002	0.0002	0.0001	0.0002	0.0007	0.0001	0.0001	0.0004	0.0004	5.974e-05	0.0003	0.0011	2.519e-05	0	0.0007	0.0001	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	7.257e-05	0	0.0005	0.0012	0	0	0.0034	0.0002	0.0005	0.0004	0.079	0.40319	T	0.242	0.24549	T	0.704	0.44271	P	0.142	0.33681	B	.	.	.	.	0.744677	0.29699	N	.	.	.	0.41	0.57100	T	-2.51	0.54546	D	0.436	0.48504	-0.9764	0.35816	T	0.118	0.41451	T	9	0.057770878	0.06688	T	0.00376	0.08744	T	0.138	0.37187	.	.	0.552575064031	0.54915	0.5660398358018969	0.56531	0.198993207126	0.22291	0.336798369884	0.15957	T	0.190178	0.54463	T	-0.34075	0.05335	T	-0.366446	0.37303	T	0.116975719265024	0.14130	T	0.846715	0.54741	T	0.046531986	0.07804	0.05572789	0.09829	0.046531986	0.07803	0.05572789	0.09828	-8.369	0.65752	D	.	.	0.117	0.27493	B	.;.;.;.;.	.;.;.;.;.	2.618012	0.34018	19.51	0.99445533601323999	0.65021	0.55014	0.29758	D	AEFBI	0.200032	0.32679	N	-0.199646712812106	0.33150	1.877445	-0.213317075000598	0.31057	1.754119	9.18650484619897E-5	0.04910	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.86	3.82	0.43153	2.409000	0.44236	5.916000	0.51093	0.672000	0.70159	0.974000	0.34632	0.992000	0.31684	0.362000	0.25931	0.1011:0.0:0.8989:0.0	9.307	0.37040	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	699.98	39	chr19	6937548	.	G	A	699.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.43;ReadPosRankSum=0.104;SOR=0.709	GT:AD:DP:GQ:PL	0/1:53,30:83:99:714,0,1291	20	0	1	0
chr19	7730841	7730841	T	A	exonic	CLEC4G	.	nonsynonymous SNV	CLEC4G:NM_001244856:exon5:c.A266T:p.Q89L	.	.	636	861	20	5	0	30	0.0171233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.001	B	0.001	B	0.063	N	1.000	N	0.625	N	5.39	T	-0.902	T	0.003	T	0.252	1.034	9.225	1.92	0.674	0.026	2.824	0.021	.	.	0.0101837	0.0229	0.0053	0	0	0	0.0082	0.0082	0.0303	0.0031953	494	154602	rs36064197	0.0097	0.0093	0.0089	0.0105	0.0289	0.0096	0.0095	0.0279	0.0275	0.0016	0.0032	0.0032	0	0.0140	0.0148	0.0091	0.0084	0.0289	0.0077	0.0077	0.0073	0.0081	0.0292	0.0073	0.0071	0.0253	0.0238	0.0019	0	0.0033	0.0026	0	0.0172	0.0274	0.0100	0.0061	0.0292	0.163	0.23450	T	0.318	0.19246	T	0.001	0.07471	B	0.001	0.04355	B	0.062862	0.22066	N	0.233416	1	0.08975	N	1.355	0.33814	L	5.39	0.01025	T	-2.44	0.53420	N	0.13	0.12484	-0.9024	0.47739	T	0.003	0.00929	T	10	0.003191352	0.00054	T	.	.	.	0.021	0.04004	.	.	.	.	0.281461959459011	0.28059	0.475177538353	0.46692	0.34300673008	0.16888	T	0.034478	0.23338	T	-0.613224	0.00121	T	-0.631318	0.10315	T	0.000717836883073348	0.00006	T	0.447355	0.12562	T	0.084376894	0.19527	0.077011086	0.17113	0.084376894	0.19527	0.077011086	0.17112	-4.601	0.32184	T	.	.	0.071	0.18828	B	.;.	.;.	1.426226	0.18436	13.74	0.73743340794885404	0.10439	0.01741	0.05494	N	AEFDBHI	0.067515	0.13275	N	-0.925637646405639	0.10245	0.4886584	-0.948569541555381	0.10956	0.5552066	0.992607985525564	0.32901	0.59774	0.34471	0	0.563428	0.19063	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	4.03	1.92	0.24912	0.209000	0.17231	1.305000	0.25500	0.640000	0.52149	0.012000	0.18695	0.684000	0.26137	0.028000	0.12845	0.2408:0.1198:0.0:0.6394	2.824	0.05143	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	521.11	23	chr19	7730841	.	T	A	521.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.95;DP=574;ExcessHet=0.1072;FS=1.105;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.78;MQRankSum=0.00;QD=9.47;ReadPosRankSum=1.99;SOR=1.022	GT:AD:DP:GQ:PL	0/1:14,9:23:99:242,0,376	19	0	2	0
chr19	8871627	8871627	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon70:c.G41972A:p.R13991Q,	.	.	421	1086	15	0	0	15	0.00685871	.	.	3191483	MUC16-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.23	T	0.89	P	0.633	P	0.098	N	.	.	2.445	M	1.42	T	-0.960	T	0.099	T	0.062	-0.068	3.666	-0.826	-0.300	-0.283	8.353	0.054	.	0.0041	0.00559105	0.0027	0.0127	0.0025	0	0	0.0007	0.0047	0.0092	0.0024385	377	154602	rs114920126	0.0011	0.0012	0.0010	0.0013	0.0118	0.0011	0.0011	0.0108	0.0104	0.0118	0.0023	0.0003	0	1.9e-05	0.0066	0.0004	0.0020	0.0062	0.0042	0.0042	0.0042	0.0042	0.0124	0.0039	0.0038	0.0115	0.0111	0.0124	0	0.0027	0.0009	0.0002	0	0.0170	0.0006	0.0028	0.0050	0.253	0.16958	T	0.295	0.20680	T	.	.	.	.	.	.	0.097604	0.02516	N	2.322730	1	0.08975	N	.	.	.	1.42	0.33189	T	-1.15	0.29525	N	0.095	0.07535	-0.9599	0.39199	T	0.099	0.36957	T	9	0.0040629804	0.00079	T	.	.	.	0.054	0.15330	.	.	0.0846915920261	0.08053	0.3408060841972615	0.33993	.	.	0.196139812469	0.00353	T	.	.	.	-0.657159	0.00065	T	-0.705709	0.05519	T	0.0126676945277565	0.00212	T	0.319768	0.06432	T	.	.	.	.	.	.	.	.	-5.141	0.38336	T	.	.	0.066	0.02200	B	.	.	0.363628	0.07360	3.982	0.9350958345138678	0.23321	0.01338	0.04604	N	AEFBI	0.036982	0.05014	N	-1.17523555218169	0.05376	0.2449383	-1.33753350985914	0.03954	0.1855621	1.27795500861326E-6	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.89	-0.826	0.10260	-0.281000	0.08489	.	.	-1.012000	0.01762	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5815:0.0:0.4185	8.353	0.31475	958	0.09170	SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	780.11	28	chr19	8871627	.	C	T	780.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.92;DP=670;ExcessHet=0.1072;FS=0.970;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=-9.600e-02;SOR=0.569	GT:AD:DP:GQ:PL	0/1:23,17:40:99:444,0,505	19	0	2	0
chr19	8882357	8882357	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon67:c.A41726C:p.H13909P,	.	.	405	1047	70	0	0	70	0.0323475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.959	D	0.956	D	.	.	.	.	1.765	L	1.42	T	-0.925	T	0.118	T	0.189	1.700	11.64	0.168	-0.171	0.416	3.103	0.028	0.00792783571824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796735167	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.375e-05	0.0031	2.685e-05	0	5.047e-05	2.28e-06	8.6e-07	8.36e-06	3.13e-06	5.047e-05	0	0	0	0	0	0	0	0	0	0.013	0.53900	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.42	0.33189	T	-2.13	0.48354	N	0.169	0.17966	-0.9248	0.44886	T	0.118	0.41538	T	8	0.10297388	0.18905	T	0.007928	0.21033	T	0.032	0.07718	.	.	0.12205267543	0.11705	0.27533970181248574	0.27446	.	.	0.296447068453	0.09873	T	.	.	.	-0.231789	0.16411	T	-0.570725	0.15383	T	0.117542110383511	0.14187	T	0.136186	0.01076	T	.	.	.	.	.	.	.	.	-5.776	0.44365	T	.	.	0.094	0.14523	B	.	.	1.063717	0.14459	11.03	0.92759947552597488	0.22269	0.03584	0.08802	N	AEFBI	0.044049	0.07038	N	-0.65132752016793	0.17421	0.8963414	-0.848972519843682	0.13313	0.6899027	8.8082630228839E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.64	0.168	0.14298	-0.323000	0.08039	.	.	0.481000	0.22134	0.000000	0.06391	0.000000	0.08366	0.263000	0.23594	0.0:0.1579:0.2494:0.5927	3.103	0.05949	958	0.09170	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	0.04545	534.89	209	chr19	8882357	.	T	G	534.89	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-2.579e+00;DP=2817;ExcessHet=0.0000;FS=5.648;InbreedingCoeff=-0.1667;MLEAC=2;MLEAF=0.091;MQ=58.04;MQRankSum=-1.092e+01;QD=3.00;ReadPosRankSum=1.24;SOR=1.324	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,24:178:99:0|1:8882357_T_G:544,0,6328:8882357	10	0	1	10
chr19	8882360	8882360	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon67:c.C41723A:p.T13908N,	.	.	407	1050	65	0	0	65	0.0300231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.994	D	0.98	D	.	.	.	.	1.72	L	1.43	T	-0.911	T	0.117	T	0.092	2.082	12.92	1.57	1.418	-0.181	4.506	0.034	0.00551552653495	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175263485	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.846e-06	0.0029	1.337e-05	0	2.514e-05	0	0	.	.	2.514e-05	0	0	0	0	0	0	0	0	0	0.167	0.23095	T	0.11	0.37310	T	.	.	.	.	.	.	.	.	.	.	0.99995	0.19072	N	.	.	.	1.43	0.32958	T	-1.48	0.36189	N	0.215	0.24010	-0.9114	0.46682	T	0.117	0.41165	T	8	0.12792793	0.24332	T	0.005516	0.14197	T	0.036	0.09122	.	.	0.17948927462	0.17512	0.1012481156749268	0.10055	.	.	0.334889471531	0.15672	T	.	.	.	-0.280333	0.10633	T	-0.640456	0.09636	T	0.303562044834163	0.25150	T	0.377862	0.09067	T	.	.	.	.	.	.	.	.	-8.949	0.67368	D	.	.	0.129	0.27553	B	.	.	1.151135	0.15394	11.82	0.98214552204547234	0.39246	0.04046	0.09490	N	AEFBI	0.032139	0.03572	N	-0.171701422619438	0.34317	1.957244	-0.381415807223033	0.25551	1.405855	1.60312416966797E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.64	1.57	0.22490	0.080000	0.14657	.	.	0.488000	0.22294	0.002000	0.15269	0.022000	0.20871	0.320000	0.24970	0.1933:0.0:0.8067:0.0	4.506	0.11297	958	0.09170	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	0.04167	528.53	208	chr19	8882360	.	G	T	528.53	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-2.917e+00;DP=2809;ExcessHet=0.0000;FS=5.645;InbreedingCoeff=-0.1613;MLEAC=2;MLEAF=0.083;MQ=58.01;MQRankSum=-1.098e+01;QD=2.94;ReadPosRankSum=1.68;SOR=1.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,24:180:99:0|1:8882357_T_G:538,0,6412:8882357	11	0	1	9
chr19	8888803	8888803	G	A	exonic	MUC16	.	stopgain	MUC16:NM_024690:exon56:c.C40696T:p.Q13566X,	.	.	387	1065	65	0	5	70	0.0296128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.702	14.99	1.01	0.786	-0.955	7.596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749709179	2.751e-06	0.0003	1.368e-06	4.147e-06	2.346e-05	6.4e-07	4.3e-07	3.89e-06	1.46e-06	0	0	0	0	1.892e-05	0	9.032e-07	0	2.346e-05	0.0003	0.0078	0.0003	0.0003	0.0007	0.0003	0.0002	0.0003	0.0002	0.0004	0	0.0002	0.0003	0.0006	0.0003	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382006	0.88838	D	0.310949	0.88697	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.510432	0.97656	37	0.99651539778950882	0.77317	0.04167	0.09661	N	AEFDBI	0.050545	0.08845	N	0.108967690324694	0.46882	2.921777	-0.235756191989301	0.30265	1.702583	7.40119793528929E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.01	0.19044	-1.404000	0.02601	.	.	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.0:0.5377:0.4623	7.596	0.27215	952	0.10565	SEA domain|SEA domain|SEA 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	0.2143	9208.93	410	chr19	8888803	.	G	A	9208.93	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.183e+00;DP=10099;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2685;MLEAC=9;MLEAF=0.214;MQ=57.32;MQRankSum=-7.194e+00;QD=2.03;ReadPosRankSum=1.87;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:488,56:544:99:.:.:121,0,18576	12	0	9	0
chr19	8888822	8888826	GCTTT	0	exonic	MUC16	.	.	.	.	.	412	698	370	1	41	413	0.210407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	23587.18	358	chr19	8888822	.	GCTTT	G,*,TCTTT	23587.18	.	AC=17,3,1;AF=0.405,0.071,0.024;AN=42;BaseQRankSum=1.15;DP=9724;ExcessHet=54.0936;FS=9.916;InbreedingCoeff=-1.0000;MLEAC=17,3,1;MLEAF=0.405,0.071,0.024;MQ=57.12;MQRankSum=-1.109e+01;QD=2.75;ReadPosRankSum=0.578;SOR=1.311	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:303,96,79,0:478:99:0|1:8888822_GCTTT_G:3908,0,12286,604,9257,12918,4763,12682,13282,17424:8888822	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|1:295,87,79:461:99:0|1:8888826_T_*:2765,0,12125,336,9070,12485:8888826	1	0	19	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|1:244,23:267:99:0|1:8900009_C_T:231,0,10156:8900009	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	0/1:190,14:204:16:.:.:16,0,7911	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	0/1:192,16:208:53:.:.:53,0,7976	13	0	6	2
chr19	8946646	8946646	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.A30124G:p.S10042G,	.	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.673	P	0.351	B	.	.	.	.	0.345	N	1.73	T	-1.033	T	0.033	T	0.122	0.168	4.903	-1.88	-0.588	-1.602	3.052	0.049	0.000885136751838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.79e-06	4.788e-06	4.084e-06	5.502e-06	0.0003	1.99e-06	1.28e-06	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	8.995e-07	0	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.73	0.26445	T	-2.08	0.47514	N	0.058	0.02964	-1.0333	0.19395	T	0.033	0.14203	T	8	0.076921046	0.12077	T	8.85E-4	0.00800	T	0.049	0.13647	0.129	0.03412	0.0482279557977	0.04254	0.043027803746123486	0.04247	.	.	0.219705268741	0.01293	T	.	.	.	-0.316454	0.07192	T	-0.692341	0.06255	T	0.177037910233403	0.19047	T	0.216078	0.02692	T	.	.	.	.	.	.	.	.	-5.897	0.45410	T	.	.	0.076	0.05800	B	.	.	-0.185436	0.03167	0.516	0.28140632811370053	0.01431	0.00901	0.03531	N	AEFBI	0.026321	0.01955	N	-0.95281343271325	0.09630	0.4565945	-1.14240206241704	0.06905	0.3339914	1.66840638606022E-4	0.05721	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.21	-1.88	0.07294	-1.155000	0.03273	.	.	-0.214000	0.08267	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4317:0.0:0.2199:0.3484	3.052	0.05800	917	0.20147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2005.98	110	chr19	8946646	.	T	C	2005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.116e+00;DP=2446;ExcessHet=0.0000;FS=1.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=-4.010e-01;SOR=0.547	GT:AD:DP:GQ:PL	0/1:105,78:183:99:2020,0,2950	20	0	1	0
chr19	8951955	8951955	A	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.T24815G:p.L8272R,	.	.	412	1101	9	0	0	9	0.00407056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.798	P	0.332	B	.	.	.	.	0.695	N	1.24	T	-1.002	T	0.052	T	0.168	0.015	4.089	-4.6	-0.939	-1.478	8.216	0.076	.	0.0002	0.00239617	0.0011	0	0.0003	0	0	0.0002	0.0022	0.0072	0.0009638	149	154602	rs201558618	0.0006	0.0006	0.0003	0.0008	0.0072	0.0005	0.0005	0.0068	0.0066	0	0.0001	0	0	0	0.0033	0.0001	0.0005	0.0072	0.0004	0.0004	0.0003	0.0004	0.0083	0.0003	0.0003	0.0063	0.0056	2.406e-05	0	0.0002	0	0.0002	0	0	0.0002	0.0005	0.0083	0.013	0.53900	D	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.24	0.36691	T	-0.19	0.09965	N	0.183	0.19861	-1.0015	0.29488	T	0.052	0.22230	T	8	0.005577415	0.00123	T	.	.	.	0.076	0.22200	.	.	0.0762999501168	0.06990	0.051510485554832085	0.05093	.	.	0.188459247351	0.00199	T	.	.	.	-0.585983	0.00177	T	-0.610075	0.11978	T	0.0427523429013367	0.04192	T	0.19768	0.02201	T	.	.	.	.	.	.	.	.	-6.627	0.51259	T	.	.	0.163	0.36073	B	.	.	-0.290650	0.02658	0.339	0.35847109160498031	0.02273	0.02259	0.06535	N	AEFBI	0.028176	0.02435	N	-1.14330861850654	0.05890	0.2697483	-1.36494604592118	0.03632	0.1698581	0.00182748370770773	0.08920	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.55	-4.6	0.03148	-1.027000	0.03703	.	.	-1.600000	0.00894	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7157:0.0:0.2843:0.0	8.216	0.30671	917	0.20147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2828.98	106	chr19	8951955	.	A	C	2828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.554e+00;DP=2515;ExcessHet=0.0000;FS=1.716;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=0.297;SOR=0.571	GT:AD:DP:GQ:PL	0/1:90,114:204:99:2843,0,2326	20	0	1	0
chr19	10308258	10308258	G	A	exonic	ZGLP1	.	nonsynonymous SNV	ZGLP1:NM_001103167:exon1:c.C424T:p.P142S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.998	D	.	.	0.989	D	0.895	L	-4.95	D	1.046	D	0.938	D	0.317	4.138	21.4	4.65	2.302	5.177	13.374	0.464	0.132270186589	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1352200944	1.176e-05	1.163e-05	1.237e-05	1.114e-05	1.54e-05	7.16e-06	5.86e-06	9.38e-06	7.67e-06	0	0	0	0	0	0	1.54e-05	0	0	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	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.989261	0.40919	D	1.24	0.30952	L	-5.15	0.98780	D	-3.46	0.67705	D	0.259	0.35194	1.046	0.98037	D	0.938	0.97944	D	9	0.34129983	0.51183	T	0.13227	0.81458	D	0.464	0.76023	0.228	0.15406	0.809714403538	0.80793	0.8380481178121914	0.83764	0.785215165238	0.65485	0.390613794327	0.23756	T	0.441251	0.78586	T	0.169419	0.71069	D	0.00558177	0.70698	D	0.894662838612447	0.54609	D	0.630737	0.24588	T	0.26005355	0.49060	0.33166513	0.59023	0.26005355	0.49060	0.33166513	0.59022	-3.345	0.14325	T	.	.	0.213	0.44188	B	.;.	.;.	3.268190	0.44723	22.0	0.99908684816022186	0.97875	0.95472	0.64857	D	AEFBI	0.493223	0.52953	N	0.356817678251477	0.59101	4.086787	0.307521036049725	0.55979	3.760981	0.224461452063748	0.18393	0.675385	0.55134	0	0.588066	0.40923	0	0.693117	0.63056	0	0.567892	0.33627	0	.	.	4.65	4.65	0.57626	4.853000	0.62610	8.568000	0.77594	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.020000	0.11549	0.0:0.0:1.0:0.0	13.374	0.60172	641	0.64016	.;.	.	.	.	.	.	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	1443.98	33	chr19	10308258	.	G	A	1443.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.37;DP=813;ExcessHet=0.0000;FS=0.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.40;ReadPosRankSum=0.349;SOR=0.883	GT:AD:DP:GQ:PL	0/1:33,50:83:99:1458,0,802	20	0	1	0
chr19	10783049	10783049	C	G	exonic	DNM2	.	nonsynonymous SNV	DNM2:NM_001005360:exon6:c.C778G:p.L260V	Charcot-Marie-Tooth disease, axonal, type 2M, Autosomal dominant;Charcot-Marie-Tooth disease, dominant intermediate B, Autosomal dominant;Lethal congenital contracture syndrome 5, Autosomal recessive;Myopathy, centronuclear, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	647461	Inborn_genetic_diseases|Charcot-Marie-Tooth_disease_dominant_intermediate_B|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011674,MedGen:C1847902,OMIM:606482,Orphanet:100044,Orphanet:228179|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.997	D	0.986	D	0.000	D	1.000	D	3.055	M	-0.7	T	0.331	D	0.610	D	0.488	3.910	19.89	5.41	2.537	4.986	17.967	0.334	0.127846576677	0.0002	.	2.494e-05	0	0	0	0	4.55e-05	0	0	1.94e-05	3	154602	rs145607989	1.368e-05	1.368e-05	1.498e-05	1.238e-05	0.0005	8.94e-06	7.26e-06	0.0001	7.541e-05	0	4.472e-05	0	0	0	0.0005	1.259e-05	1.656e-05	0	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	0.023	0.50676	D	0.135	0.69154	T	0.814	0.45487	P	0.584	0.50293	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.83	0.82355	M	-0.7	0.72785	T	-2.32	0.51646	N	0.556	0.59053	0.331	0.88039	D	0.610	0.86191	D	10	0.4329775	0.57611	T	0.127847	0.80970	D	0.334	0.65620	.	.	0.752085495845	0.74984	0.5655833535515071	0.56485	1.93509585189	0.93180	0.577961802483	0.49799	T	0.808464	0.95188	D	0.00646198	0.52542	T	-0.145629	0.59628	T	0.53683990240097	0.33987	D	0.981102	0.95398	D	0.71471554	0.78868	0.6019126	0.76869	0.71471554	0.78869	0.6019126	0.76870	-12.613	0.87708	D	0.5732319518254327	0.64030	0.261	0.53510	B	.;.;.;.;.;.	.;.;.;.;.;.	4.545699	0.71494	25.7	0.99639967105403238	0.76571	0.98748	0.86347	D	AEFDBI	0.809164	0.73274	D	0.594176886625484	0.72810	5.864728	0.606559760050089	0.75415	6.306504	0.999999999994167	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	5.064000	0.64169	5.919000	0.51137	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.967	0.89023	418	0.81602	.;.;.;Dynamin central domain|Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain;.;Dynamin central domain|Dynamin-type guanine nucleotide-binding (G) 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	1316.98	33	chr19	10783049	.	C	G	1316.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.744e+00;DP=815;ExcessHet=0.0000;FS=8.547;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=-7.700e-02;SOR=0.749	GT:AD:DP:GQ:PL	0/1:55,59:114:99:1331,0,1450	20	0	1	0
chr19	11447529	11447531	GAG	-	exonic	PRKCSH	.	nonframeshift deletion	PRKCSH:NM_001289102:exon10:c.940_942del:p.E325del	Polycystic liver disease 1, Autosomal dominant	.	0	61	87	26	52	191	0.532567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	61194.9	119	chr19	11447525	.	AGAGGAG	A,AGAG	61194.9	.	AC=5,21;AF=0.119,0.500;AN=42;BaseQRankSum=-4.730e-01;DP=3206;ExcessHet=4.5793;FS=1.171;InbreedingCoeff=-0.2115;MLEAC=5,21;MLEAF=0.119,0.500;MQ=60.00;MQRankSum=0.00;QD=26.39;ReadPosRankSum=0.563;SOR=0.619	GT:AD:DP:GQ:PL	0/2:70,2,79:151:99:2961,3139,6441,0,2713,2482	2	0	2	0
chr19	12430730	12430730	A	0	exonic	ZNF443	.	.	.	.	.	412	412	423	155	120	853	0.470777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	57518.43	140	chr19	12430730	.	A	C,*	57518.43	.	AC=18,3;AF=0.429,0.071;AN=42;BaseQRankSum=-2.194e+00;DP=3284;ExcessHet=2.0051;FS=0.000;InbreedingCoeff=-0.0476;MLEAC=18,3;MLEAF=0.429,0.071;MQ=58.31;MQRankSum=-5.036e+00;QD=22.67;ReadPosRankSum=-5.040e-01;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,170,0:170:99:1|1:12430718_C_A:7580,512,0,7580,512,7580:12430718	5	4	10	0
chr19	12675556	12675556	G	A	exonic	WDR83	.	nonsynonymous SNV	WDR83:NM_032332:exon9:c.G832A:p.G278S	.	.	416	1088	18	0	0	18	0.00820419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.0	B	0.001	B	0.001	N	1.000	N	0.045	N	-1.52	D	-0.939	T	0.212	T	0.306	0.845	8.415	0.135	0.105	0.538	9.274	0.143	0.0186753892185	0.0015	0.000998403	0.0019	0.0002	0.0004	0	0.0002	0.0024	0.0045	0.0033	0.0017982	278	154602	rs34373915	0.0014	0.0014	0.0013	0.0015	0.0073	0.0014	0.0013	0.0055	0.0049	0.0001	0.0010	0.0116	0	0.0001	0.0073	0.0011	0.0022	0.0032	0.0012	0.0012	0.0014	0.0011	0.0025	0.0011	0.0010	0.0014	0.0011	0.0003	0.0066	0.0013	0.0107	0	0	0.0034	0.0014	0.0014	0.0025	0.858	0.02684	T	0.635	0.07082	T	0.0	0.02946	B	0.001	0.04355	B	0.000703	0.42254	N	0.262018	1	0.08975	N	-0.315	0.03579	N	-1.52	0.81478	D	0.78	0.01921	N	0.158	0.16447	-0.9385	0.42853	T	0.212	0.57227	T	10	0.006455213	0.00146	T	0.018675	0.40822	T	0.143	0.38195	.	.	0.349204839081	0.34528	0.24874816476866465	0.24788	0.252073141098	0.27777	0.339909672737	0.16425	T	0.258725	0.62991	T	-0.413937	0.01872	T	-0.369474	0.36950	T	0.00259071070745996	0.00027	T	0.761924	0.38711	T	0.026179453	0.01642	0.038511455	0.03735	0.026179453	0.01642	0.038511455	0.03735	-4.213	0.26939	T	.	.	0.074	0.05060	B	.	.	0.334628	0.07086	3.655	0.67180728368730103	0.08278	0.22090	0.21628	N	AEFDBHCI	0.071814	0.14310	N	-1.04461181186769	0.07693	0.358285	-1.01671055272884	0.09417	0.4684347	0.584902509676839	0.21600	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.88	0.135	0.14075	0.571000	0.23372	.	.	0.618000	0.50648	0.150000	0.23655	0.000000	0.08366	0.025000	0.12405	0.4514:0.0:0.5486:0.0	9.274	0.36850	730	0.54327	.	.	.	.	.	.	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	793.98	34	chr19	12675556	.	G	A	793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=765;ExcessHet=0.0000;FS=2.657;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=1.89;SOR=0.333	GT:AD:DP:GQ:PL	0/1:31,28:59:99:808,0,805	20	0	1	0
chr19	13207871	13207876	CTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6963del:p.Q2324_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,27,0,0,0,0,0:27:81:.:.:1195,81,0,1195,81,1195,1195,81,1195,1195,1195,81,1195,1195,1195,1195,81,1195,1195,1195,1195,1195,81,1195,1195,1195,1195,1195	2	3	6	0
chr19	13207874	13207876	CTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6960del:p.Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,27,0,0,0,0,0:27:81:.:.:1195,81,0,1195,81,1195,1195,81,1195,1195,1195,81,1195,1195,1195,1195,81,1195,1195,1195,1195,1195,81,1195,1195,1195,1195,1195	2	3	6	0
chr19	13207876	13207876	-	CTG	exonic	CACNA1A	.	nonframeshift insertion	CACNA1A:NM_001127222:exon47:c.6957_6958insCAG:p.Q2325_A2326insQ,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,27,0,0,0,0,0:27:81:.:.:1195,81,0,1195,81,1195,1195,81,1195,1195,1195,81,1195,1195,1195,1195,81,1195,1195,1195,1195,1195,81,1195,1195,1195,1195,1195	2	3	6	0
chr19	13207868	13207876	CTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6966del:p.Q2323_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,27,0,0,0,0,0:27:81:.:.:1195,81,0,1195,81,1195,1195,81,1195,1195,1195,81,1195,1195,1195,1195,81,1195,1195,1195,1195,1195,81,1195,1195,1195,1195,1195	2	3	6	0
chr19	13207862	13207876	CTGCTGCTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6972del:p.Q2321_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,27,0,0,0,0,0:27:81:.:.:1195,81,0,1195,81,1195,1195,81,1195,1195,1195,81,1195,1195,1195,1195,81,1195,1195,1195,1195,1195,81,1195,1195,1195,1195,1195	2	3	6	0
chr19	13261453	13261453	C	G	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon26:c.G4250C:p.C1417S	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.195	M	-4.35	D	1.104	D	0.955	D	0.869	3.142	16.51	4.28	1.942	7.788	15.505	0.919	0.720049166767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	3.6	0.93737	H	-4.35	0.97292	D	-9.9	0.98740	D	0.88	0.93370	1.104	0.99792	D	0.955	0.98552	D	10	0.9412385	0.93449	D	0.720049	0.97734	D	0.919	0.97928	0.674	0.81200	0.941752061762	0.94114	0.997802321923104	0.99779	2.44890012304	0.97340	0.720135450363	0.70066	T	0.34092	0.72556	T	0.529847	0.95166	D	0.523312	0.95094	D	0.999120771884918	0.96259	D	0.955704	0.85148	D	0.8946401	0.90909	0.8295416	0.90155	0.8946401	0.90910	0.8295416	0.90156	-12.57	0.87516	D	0.7550199673618676	0.83701	1.000	0.99795	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.176184	0.86775	29.0	0.9877498318136364	0.46033	0.63432	0.32088	D	AEFGBHCI	0.974892	0.99586	D	0.786534102046003	0.85255	8.522144	0.671957541614113	0.80254	7.258447	1.0	0.98316	0.706298	0.61202	0	0.166054	0.03914	2	0.709663	0.75317	0	0.75052	0.99595	0	.	.	4.28	4.28	0.50183	7.876000	0.85623	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.622000	0.31948	0.0:1.0:0.0:0.0	15.505	0.75468	867	0.32089	Ion transport domain;Ion transport domain;Ion transport domain;.;.;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;.;Ion transport domain;Ion transport domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1071	259.27	33	chr19	13261453	.	C	G,T	259.27	.	AC=1,2;AF=0.036,0.071;AN=28;BaseQRankSum=-1.205e+00;DP=1059;ExcessHet=0.3300;FS=141.148;InbreedingCoeff=-0.1849;MLEAC=1,3;MLEAF=0.036,0.107;MQ=60.00;MQRankSum=0.00;QD=1.73;ReadPosRankSum=0.369;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:31,0,16:47:99:0|1:13261453_C_T:164,251,876,0,625,581:13261453	11	0	1	7
chr19	13261453	13261453	C	T	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon26:c.G4250A:p.C1417Y	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.45	M	-4.36	D	1.103	D	0.959	D	0.882	2.999	16.00	4.28	1.942	7.788	15.505	0.900	0.662448640831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	3.945	0.96414	H	-4.36	0.97317	D	-10.89	0.99244	D	0.9	0.91736	1.103	0.99760	D	0.959	0.98667	D	10	0.92822963	0.92167	D	0.662449	0.97167	D	0.900	0.97210	0.597	0.72739	0.946521584196	0.94595	0.9989162058167032	0.99890	3.10580878237	0.99392	0.820091307163	0.85041	D	0.425318	0.77547	T	0.548974	0.95690	D	0.550787	0.95627	D	0.999760091304779	0.98882	D	0.970803	0.90930	D	0.9488749	0.96151	0.8905547	0.94306	0.9488749	0.96151	0.8905547	0.94306	-12.59	0.87605	D	0.7545057421757159	0.83651	1.000	0.99795	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.250013	0.88146	29.5	0.98413605309687413	0.41201	0.57634	0.30428	D	AEFGBHCI	0.971659	0.99367	D	0.815197305321873	0.87046	9.085217	0.690351591084019	0.81645	7.575577	1.0	0.98316	0.706298	0.61202	0	0.166054	0.03914	2	0.709663	0.75317	0	0.75052	0.99595	0	.	.	4.28	4.28	0.50183	7.876000	0.85623	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.622000	0.31948	0.0:1.0:0.0:0.0	15.505	0.75468	867	0.32089	Ion transport domain;Ion transport domain;Ion transport domain;.;.;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;.;Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1071	259.27	33	chr19	13261453	.	C	G,T	259.27	.	AC=1,2;AF=0.036,0.071;AN=28;BaseQRankSum=-1.205e+00;DP=1059;ExcessHet=0.3300;FS=141.148;InbreedingCoeff=-0.1849;MLEAC=1,3;MLEAF=0.036,0.107;MQ=60.00;MQRankSum=0.00;QD=1.73;ReadPosRankSum=0.369;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:31,0,16:47:99:0|1:13261453_C_T:164,251,876,0,625,581:13261453	11	0	1	7
chr19	13959894	13959894	-	GGTGGGCCCAGGGCAGGCAG	exonic	DCAF15	.	frameshift insertion	DCAF15:NM_138353:exon9:c.1439_1440insGGTGGGCCCAGGGCAGGCAG:p.C482Gfs*59,	.	.	429	927	68	95	3	261	0.122159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0165	0.0004	0	0	3.429e-05	0	0	0.0002305	6	26028	.	0.0004	0.0004	0.0005	0.0003	0.0154	0.0004	0.0004	0.0142	0.0138	0.0154	0.0009	0	0	0	0.0008	1.26e-05	0.0008	9.603e-05	0.0040	0.0039	0.0038	0.0042	0.0139	0.0037	0.0036	0.0129	0.0125	0.0139	0	0.0015	0	0	0	0	1.518e-05	0.0035	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	8404.5	34	chr19	13959894	.	A	AGGTGGGCCCAGGGCGGGCAG,AGGTGGGCCCAGGGCAGGCAG	8404.5	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=0.536;DP=1417;ExcessHet=0.3152;FS=5.121;InbreedingCoeff=0.1923;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=-9.810e-01;SOR=1.052	GT:AD:DP:GQ:PL	1/1:0,16,0:16:39:702,39,0,711,48,720	9	4	7	0
chr19	17286678	17286692	GTGTGTGTGTGTGTT	0	exonic	ANKLE1	.	.	.	.	.	559	741	214	4	4	226	0.130282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4004.43	34	chr19	17286678	.	GTGTGTGTGTGTGTT	*,G	4004.43	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=0.870;DP=1077;ExcessHet=0.9430;FS=6.169;InbreedingCoeff=-0.0269;MLEAC=1,8;MLEAF=0.025,0.200;MQ=59.96;MQRankSum=0.00;QD=11.34;ReadPosRankSum=1.98;SOR=0.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:24,5,23:52:99:.:.:865,579,1564,0,835,1120	12	0	0	1
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	0/2:24,0,23:52:99:.:.:865,878,1946,0,1110,1120	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	0/1:24,23,0,0:52:99:.:.:865,0,1120,878,1110,1946,878,1110,1946,1946	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	0/1:24,23,0,0:52:99:.:.:865,0,1120,878,1110,1946,878,1110,1946,1946	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	0/1:19,28,0:47:99:.:.:1050,0,903,1150,547,2009	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	1/2:0,28,15:43:99:.:.:2557,542,356,1443,0,1373	0	10	3	0
chr19	17834887	17834887	C	T	exonic	JAK3	.	nonsynonymous SNV	JAK3:NM_000215:exon16:c.G2164A:p.V722I,	SCID, autosomal recessive, T-negative/B-positive type, Autosomal recessive	.	1	1437	82	2	0	86	0.0290541	.	.	138312	not_specified|JAK3-related_disorder|T-B+_severe_combined_immunodeficiency_due_to_JAK3_deficiency|not_provided|Acute_megakaryoblastic_leukemia|Lymphoblastic_leukemia,_acute,_with_lymphomatous_features	MedGen:CN169374|.|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802,Orphanet:35078|MedGen:C3661900|Human_Phenotype_Ontology:HP:0006733,MONDO:MONDO:0018872,MeSH:D007947,MedGen:C0023462,Orphanet:518|MONDO:MONDO:0009539,MedGen:C1855472,OMIM:247640,Orphanet:513	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.03	D	0.001	B	0.004	B	0.243	N	1.000	N	0.46	N	0.06	T	-1.014	T	0.085	T	0.081	0.858	8.473	0.248	-0.126	1.524	7.741	0.156	.	0.0095	0.00359425	0.0086	0.0023	0.0041	0	0.0035	0.0130	0.0077	0.0051	0.0085769	1326	154602	rs3213409	0.0100	0.0100	0.0099	0.0101	0.0229	0.0099	0.0098	0.0197	0.0185	0.0026	0.0057	0.0260	2.519e-05	0.0047	0.0229	0.0109	0.0095	0.0053	0.0075	0.0075	0.0082	0.0068	0.0115	0.0071	0.0070	0.0109	0.0106	0.0018	0	0.0069	0.0262	0	0.0033	0.0068	0.0115	0.0076	0.0064	0.029	0.47320	D	0.067	0.44302	T	0.001	0.07471	B	0.004	0.10090	B	0.243360	0.15664	N	0.618726	1	0.08975	N	0.49	0.13296	N	0.06	0.61798	T	-0.8	0.22294	N	0.032	0.01135	-1.0145	0.25497	T	0.085	0.33241	T	10	0.0028762817	0.00046	T	.	.	.	0.156	0.40720	.	.	0.348454897831	0.34454	0.5311442961215286	0.53038	0.391737070457	0.40370	0.366400837898	0.20314	T	0.405752	0.76185	T	-0.531877	0.00374	T	-0.526393	0.19648	T	0.0164766271593883	0.00412	T	0.564843	0.19943	T	0.048163924	0.08350	0.051704865	0.08375	0.048167907	0.08353	0.05393384	0.09178	-6.642	0.51825	T	0.11864946227562068	0.10969	0.071	0.03849	B	.;.;.	.;.;.	1.612184	0.20598	14.82	0.97845570022248962	0.36358	0.23033	0.21944	N	AEFBCI	0.110569	0.21921	N	-0.961122929809512	0.09444	0.4470025	-0.986255251364803	0.10093	0.5062114	0.696009353993551	0.22642	0.67177	0.52595	0	0.702456	0.74545	0	0.491614	0.08109	1	0.550183	0.17644	0	.	.	4.89	0.248	0.14786	3.042000	0.49504	0.717000	0.20982	0.524000	0.24156	0.175000	0.24000	0.000000	0.08366	0.013000	0.09966	0.0:0.6163:0.0:0.3837	7.741	0.28004	964	0.07719	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	8107.68	182	chr19	17834887	.	C	T	8107.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.40;DP=1241;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=-1.084e+00;SOR=0.689	GT:AD:DP:GQ:PL	0/1:98,102:200:99:2720,0,2452	18	0	3	0
chr19	18257742	18257742	C	T	exonic	IQCN	.	nonsynonymous SNV	IQCN:NM_001145304:exon4:c.G3542A:p.R1181Q	.	.	430	1063	28	1	0	30	0.0139147	.	.	2811843	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.33	T	0.703	P	0.072	B	0.489	N	1.000	N	0.415	N	3.97	T	-0.908	T	0.004	T	0.055	1.633	11.42	-4.28	-0.772	-1.081	8.402	0.048	0.00561481164736	0.0025	0.00199681	0.0027	0.0007	0.0038	0	0.0002	0.0040	0.0012	0.0004	0.0026778	414	154602	rs147110090	0.0038	0.0038	0.0039	0.0037	0.0044	0.0037	0.0037	0.0043	0.0043	0.0007	0.0032	0.0042	2.521e-05	0.0003	0.0028	0.0044	0.0032	0.0007	0.0027	0.0027	0.0028	0.0026	0.0051	0.0025	0.0024	0.0042	0.0038	0.0006	0	0.0051	0.0035	0	9.416e-05	0.0136	0.0041	0.0047	0.0015	0.269	0.16091	T	0.467	0.12351	T	0.648	0.40583	P	0.072	0.28043	B	0.488781	0.05024	N	1.467820	1	0.08975	N	.	.	.	3.94	0.03544	T	-0.1	0.08495	N	0.07	0.05929	-0.9079	0.47109	T	0.004	0.01400	T	10	0.0059554875	0.00134	T	0.005615	0.14500	T	0.048	0.13305	.	.	0.0551355673512	0.04727	0.046398099178604615	0.04583	0.209070641549	0.23371	0.206471741199	0.00670	T	0.004904	0.04322	T	-0.732653	0.00023	T	-0.825326	0.01348	T	0.00359907381321254	0.00038	T	0.559044	0.20591	T	0.023774633	0.01146	0.039027713	0.03904	0.023774633	0.01146	0.039027713	0.03904	-4.45	0.30915	T	.	.	0.081	0.18705	B	.;.;.;.	.;.;.;.	-0.707385	0.01304	0.070	0.95511092694057775	0.27115	0.01951	0.05929	N	AEFDBHCI	0.038037	0.05324	N	-1.10275933400737	0.06594	0.3039807	-1.23907239928053	0.05295	0.2519379	1.11638662379748E-4	0.05269	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.26	-4.28	0.03475	-1.511000	0.02364	-4.576000	0.02087	-1.032000	0.01689	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6529:0.1628:0.1843	8.402	0.31753	871	0.31377	IQ motif, EF-hand binding site;IQ motif, EF-hand binding site;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2489.98	33	chr19	18257742	.	C	T	2489.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.05;DP=975;ExcessHet=0.0000;FS=1.869;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=-5.300e-02;SOR=0.556	GT:AD:DP:GQ:PL	0/1:81,93:174:99:2504,0,2003	20	0	1	0
chr19	18884240	18884240	C	T	exonic	CERS1	.	nonsynonymous SNV	CERS1:NM_001290265:exon3:c.G143A:p.R48Q	.	.	420	1081	21	0	0	21	0.00961979	.	.	469512	Progressive_myoclonic_epilepsy_type_8	MONDO:MONDO:0014545,MedGen:C5190825,OMIM:616230,Orphanet:424027	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.45	T	0.013	B	0.012	B	.	.	1.000	D	1.405	L	-1.89	D	-0.634	T	0.395	T	0.175	0.548	6.963	3.08	0.720	0.969	7.298	0.187	0.111186551468	.	0.000199681	0.0003	0	0	0.0001	0	0.0001	0.0013	0.0016	0.0002199	34	154602	rs201005099	0.0001	0.0001	7.899e-05	0.0002	0.0023	0.0001	0.0001	0.0013	0.0012	0	4.476e-05	0	5.039e-05	0	0.0023	1.889e-05	0.0004	0.0015	4.601e-05	4.594e-05	5.144e-05	4.033e-05	0.0002	2.11e-05	1.527e-05	1.171e-05	6.25e-06	0	0	6.553e-05	0	0	0	0	4.411e-05	0.0010	0.0002	0.335	0.14843	T	0.629	0.07842	T	0.013	0.16609	B	0.012	0.16012	B	.	.	.	.	0.996427	0.81001	N	0.54	0.13725	N	-1.89	0.84557	D	-0.64	0.19933	N	0.243	0.28028	-0.6339	0.63405	T	0.395	0.74829	T	9	0.02847308	0.00979	T	0.111187	0.78886	D	0.187	0.46274	.	.	0.438278051908	0.43446	.	.	.	.	0.284476578236	0.08124	T	0.536708	0.84064	D	-0.378817	0.03170	T	-0.341549	0.40169	T	0.02746082407502	0.01610	T	0.775922	0.40781	T	0.036260776	0.04428	0.03857445	0.03757	0.043206904	0.06692	0.039683353	0.04118	-6.045	0.46654	T	0.1983911356062313	0.26269	0.088	0.13080	B	.;.;.	.;.;.	1.217706	0.16111	12.33	0.97735577517697381	0.35646	0.39342	0.26191	N	AEFBHCI	0.220516	0.34526	N	-0.681057154112685	0.16563	0.8449095	-0.64067046042269	0.18452	0.985804	0.999998515731578	0.74766	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.755437	0.99637	0	.	.	4.12	3.08	0.34576	1.010000	0.29500	0.706000	0.20886	-0.371000	0.05444	0.523000	0.27135	0.176000	0.23382	0.014000	0.10232	0.0:0.7291:0.1716:0.0993	7.298	0.25579	929	0.16858	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1440.98	34	chr19	18884240	.	C	T	1440.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.850;DP=858;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.37;ReadPosRankSum=0.516;SOR=0.663	GT:AD:DP:GQ:PL	0/1:80,59:139:99:1455,0,1998	20	0	1	0
chr19	19630226	19630240	GCTGGTGGGTTACAG	-	exonic	GMIP	.	nonframeshift deletion	GMIP:NM_001288998:exon20:c.2549_2563del:p.P850_Q854del	.	.	416	1085	21	0	0	21	0.00958466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.000798722	0.0007	0.0002	0.0004	0	0	0.0004	0	0.0040	0.0001153	3	26028	rs376598348	0.0007	0.0007	0.0005	0.0008	0.0070	0.0006	0.0006	0.0053	0.0047	0.0008	0.0009	0.0008	0	0	0.0070	0.0004	0.0012	0.0039	0.0006	0.0006	0.0005	0.0007	0.0027	0.0005	0.0005	0.0016	0.0013	0.0003	0	0.0012	0.0014	0	0	0.0102	0.0006	0.0009	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1132.94	34	chr19	19630225	.	AGCTGGTGGGTTACAG	A	1132.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.571;DP=785;ExcessHet=0.0000;FS=2.108;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.43;ReadPosRankSum=0.434;SOR=0.991	GT:AD:DP:GQ:PL	0/1:35,30:65:99:1147,0,1379	20	0	1	0
chr19	21056918	21056918	C	T	exonic	ZNF430	.	nonsynonymous SNV	ZNF430:NM_001172671:exon5:c.C607T:p.P203S	.	.	431	1079	11	1	0	13	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.082	B	0.026	B	.	.	0.839	N	1.455	L	1.61	T	-1.017	T	0.050	T	0.092	0.378	6.054	-2.09	-0.530	-0.892	2.777	0.005	0.0012792000576	0.0003	0.000998403	0.0016	0.0001	0.0002	0.0002	0.0002	0.0010	0.0011	0.0070	0.0013842	214	154602	rs7256437	0.0010	0.0010	0.0008	0.0012	0.0064	0.0009	0.0009	0.0060	0.0058	2.994e-05	0.0003	0	0.0002	9.367e-05	0.0023	0.0007	0.0008	0.0064	0.0006	0.0006	0.0006	0.0006	0.0048	0.0005	0.0005	0.0033	0.0028	0.0001	0	0	0	0.0002	9.423e-05	0	0.0009	0	0.0048	0.15	0.24661	T	0.145	0.33000	T	0.082	0.24665	B	0.026	0.20792	B	.	.	.	.	0.838763	0.28660	N	1.895	0.50365	L	1.61	0.28391	T	-3.57	0.68999	D	0.149	0.15187	-1.0173	0.24592	T	0.050	0.21456	T	9	0.008356005	0.00189	T	0.001279	0.01759	T	0.005	0.00259	.	.	0.0297737177859	0.01360	0.012166240733161061	0.01175	0.139298822938	0.15699	0.242090597749	0.02981	T	0.080619	0.36406	T	-0.640936	0.00082	T	-0.690547	0.06358	T	0.00829786027620292	0.00100	T	0.0383962	0.00265	T	0.06459335	0.13721	0.12360636	0.29804	0.06459335	0.13721	0.12360636	0.29804	-4.202	0.26780	T	.	.	0.133	0.28750	B	.	.	-0.109836	0.03584	0.697	0.47525260264423635	0.03893	0.01620	0.05236	N	AEFBI	0.026657	0.02041	N	-1.32880055363593	0.03350	0.1494875	-1.4859767581626	0.02459	0.1131281	6.28953257013217E-4	0.07482	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	1.04	-2.09	0.06831	0.045000	0.13898	.	.	-0.353000	0.05553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2678:0.505:0.0:0.2272	2.777	0.05022	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.09524	7723.9	35	chr19	21056918	.	C	T	7723.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.52;DP=1087;ExcessHet=0.0082;FS=0.535;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=17.63;ReadPosRankSum=0.074;SOR=0.752	GT:AD:DP:GQ:PL	0/1:100,79:179:99:2113,0,2555	18	1	2	0
chr19	35527746	35527746	C	0	exonic	SBSN	.	.	.	.	.	427	1059	23	1	12	37	0.0116659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2598.15	211	chr19	35527746	.	C	G,*	2598.15	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-1.851e+00;DP=2067;ExcessHet=0.3300;FS=1.107;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=59.24;MQRankSum=3.51;QD=3.84;ReadPosRankSum=-2.316e+00;SOR=0.727	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:176,0,109:285:99:0|1:35527743_TGCCCTGCAGCATGGTGGACTCCCTGGCCAAACCTCCCA_*:2639,3454,11465,0,6732,6187:35527743	18	0	1	0
chr19	35722408	35722408	T	A	exonic	KMT2B	.	nonsynonymous SNV	KMT2B:NM_014727:exon4:c.T2507A:p.I836N,	Dystonia 28, childhood-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.09	B	0.015	B	0.715	N	1.000	N	0	N	-1.63	D	-0.815	T	0.259	T	0.204	-0.638	1.180	2.23	0.505	1.077	4.537	0.205	0.0672672982579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.056e-06	2.052e-06	2.728e-06	1.378e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.059	0.45961	T	0.09	0.25173	B	0.015	0.17295	B	0.715301	0.09980	N	0.824724	1	0.08975	N	0	0.06538	N	-1.63	0.82440	D	0.18	0.05035	N	0.464	0.50056	-0.8154	0.54220	T	0.259	0.62988	T	10	0.08903572	0.15385	T	0.067267	0.70115	D	0.205	0.49236	0.132	0.03662	0.147330786459	0.14319	0.11741152310037324	0.11669	.	.	0.354771912098	0.18622	T	0.024815	0.18678	T	-0.0657153	0.42010	T	-0.332172	0.41227	T	0.0769306211025872	0.09590	T	0.756624	0.37993	T	0.058518846	0.11782	0.08585894	0.19853	0.058518846	0.11782	0.08585894	0.19853	-3.141	0.11773	T	0.11808889263014592	0.10858	0.085	0.10256	B	.	.	1.827642	0.23222	15.93	0.54248443807953017	0.05100	0.49901	0.28539	N	AEFBCI	0.063604	0.12302	N	-0.605005084165226	0.18792	0.9785469	-0.497509622549038	0.22223	1.205966	1.61291902508311E-4	0.05721	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.92	2.23	0.27189	1.270000	0.32689	1.264000	0.25249	0.665000	0.62972	0.820000	0.29989	0.970000	0.29701	0.879000	0.42020	0.0:0.24:0.1823:0.5777	4.537	0.11438	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	0.02381	559.98	40	chr19	35722408	.	T	A	559.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.86;DP=808;ExcessHet=0.0000;FS=3.923;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.23;ReadPosRankSum=-8.370e-01;SOR=1.310	GT:AD:DP:GQ:PL	0/1:47,21:68:99:574,0,1216	20	0	1	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.001	B	.	.	1.000	N	0.55	N	-0.28	T	-0.989	T	0.121	T	0.114	1.268	10.14	-4.52	-1.174	-2.695	8.886	0.030	0.0455139123668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.853e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.693	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	-0.07	0.08033	N	0.067	0.03956	-0.9885	0.32978	T	0.121	0.42208	T	9	0.0735006	0.11114	T	0.045514	0.62018	D	0.030	0.07022	0.322	0.30226	0.0551355673512	0.04727	0.019455290587693495	0.01899	.	.	0.366222500801	0.20289	T	.	.	.	-0.271564	0.11583	T	-0.627859	0.10578	T	0.0769434833446011	0.09592	T	0.353365	0.07952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37293	B	.;.	.;.	-1.370848	0.00382	0.007	0.78222985595802419	0.12208	0.01418	0.04786	N	AEFGBI	0.030388	0.03052	N	-1.5918959215929	0.01305	0.05684392	-1.65151224496589	0.01368	0.06179205	0.00476714215870287	0.10704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-4.52	0.03227	-2.190000	0.01332	.	.	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3557:0.1261:0.5182:0.0	8.886	0.34564	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3438	3239.79	87	chr19	37887093	.	A	G	3239.79	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-3.813e+00;DP=2213;ExcessHet=7.7275;FS=216.184;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=2.67;ReadPosRankSum=1.38;SOR=11.319	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,21:136:88:0|1:37887093_A_G:88,0,3789:37887093	5	0	11	5
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|1:113,21:134:93:0|1:37887093_A_G:93,0,3775:37887093	1	0	15	5
chr19	38386669	38386669	G	A	exonic	GGN	.	nonsynonymous SNV	GGN:NM_152657:exon3:c.C593T:p.P198L,	.	.	414	1100	8	0	0	8	0.00362319	.	.	704958	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.004	B	0.01	B	0.716	N	1.000	N	0.55	N	.	.	-1.024	T	0.033	T	0.05	0.527	6.855	-1.22	-0.096	1.122	5.726	0.035	.	0.0052	0.00539137	0.0089	0.0016	0.0036	0	0.0390	0.0102	0.0090	0.0054	0.0075937	1174	154602	rs183879202	0.0090	0.0090	0.0090	0.0089	0.0091	0.0088	0.0088	0.0089	0.0089	0.0013	0.0037	0.0057	2.526e-05	0.0333	0.0035	0.0091	0.0072	0.0047	0.0077	0.0077	0.0066	0.0089	0.0082	0.0074	0.0072	0.0077	0.0074	0.0016	0	0.0057	0.0049	0	0.0390	0	0.0082	0.0085	0.0033	0.065	0.36310	T	0.007	0.69154	D	0.004	0.12183	B	0.01	0.14941	B	0.715702	0.06284	N	1.177210	1	0.08975	N	0.345	0.11182	N	.	.	.	-2.11	0.48020	N	0.178	0.19190	-1.0237	0.22508	T	0.033	0.14203	T	9	0.0032075644	0.00054	T	.	.	.	0.035	0.08770	.	.	0.166414681773	0.16258	0.04500504887436528	0.04444	0.315902796584	0.33863	0.399953871965	0.25062	T	0.111613	0.42724	T	-0.586996	0.00175	T	-0.609274	0.12043	T	0.0113653961907874	0.00169	T	0.491951	0.15143	T	0.034554396	0.03900	0.104230754	0.25027	0.034554396	0.03900	0.104230754	0.25027	-4.105	0.25364	T	.	.	0.072	0.04436	B	.	.	1.809521	0.23000	15.84	0.97092586697140892	0.32332	0.28931	0.23687	N	AEFDBCI	0.100051	0.20127	N	-0.909760190183677	0.10613	0.5079891	-0.935913749894589	0.11251	0.5720234	0.999950074988616	0.48110	0.422189	0.06491	0	0.550933	0.16991	0	0.503968	0.08637	0	0.691587	0.68394	0	.	.	3.05	-1.22	0.09005	0.709000	0.25407	0.695000	0.20799	0.672000	0.70159	0.578000	0.27570	0.640000	0.25910	0.016000	0.10718	0.1358:0.528:0.3363:0.0	5.726	0.17284	601	0.67921	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2159.98	37	chr19	38386669	.	G	A	2159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=894;ExcessHet=0.0000;FS=6.860;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.49;ReadPosRankSum=-3.270e-01;SOR=0.320	GT:AD:DP:GQ:PL	0/1:52,79:131:99:2174,0,1234	20	0	1	0
chr19	40502285	40502285	C	T	exonic	SPTBN4	.	nonsynonymous SNV	SPTBN4:NM_020971:exon9:c.C1055T:p.T352M,	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.931	P	0.539	P	0.243	U	1.000	D	1.15	L	-0.31	T	-0.682	T	0.228	T	0.23	2.012	12.69	2.38	1.017	0.041	10.438	0.180	0.0447817945054	0.0002	.	0.0004	0.0002	8.651e-05	0.0001	0	3.044e-05	0	0.0022	0.0002781	43	154602	rs145963269	0.0001	0.0001	6.144e-05	0.0002	0.0014	9.496e-05	8.976e-05	0.0012	0.0011	8.988e-05	4.483e-05	0	2.529e-05	0	0.0002	2.253e-05	0.0001	0.0014	5.279e-05	5.265e-05	5.16e-05	5.404e-05	0.0004	2.567e-05	1.837e-05	7.384e-05	3.064e-05	7.26e-05	0	0	0	0.0002	0	0	2.945e-05	0	0.0004	0.001	0.78490	D	0.004	0.74150	D	0.892	0.49086	P	0.521	0.48239	P	0.243438	0.15662	U	0.517494	0.814314	0.34685	D	1.59	0.40313	L	-0.31	0.68030	T	-2.78	0.58896	D	0.149	0.22098	-0.6823	0.61266	T	0.228	0.59296	T	10	0.02157709	0.00519	T	0.044782	0.61661	D	0.180	0.45073	.	.	0.594367484798	0.59114	0.5732398421475895	0.57252	.	.	0.659690260887	0.61365	T	0.054317	0.72541	T	-0.421825	0.01665	T	-0.391929	0.34327	T	0.0556229141214822	0.06461	T	0.890411	0.62412	D	0.16672449	0.37025	0.24875383	0.50432	0.16672449	0.37025	0.24875383	0.50431	-8.311	0.63169	D	.	.	0.131	0.45236	B	.;.;.;.;.	.;.;.;.;.	3.639688	0.51603	23.1	0.99179004791953451	0.54614	0.30296	0.24046	N	AEFDBI	0.363633	0.45246	N	-0.179620983580144	0.33984	1.934385	-0.270699571094925	0.29068	1.62567	0.265667671713781	0.18838	0.553676	0.25195	0	0.588015	0.36545	0	0.563428	0.18855	0	0.567892	0.33627	0	.	.	3.42	2.38	0.28415	-0.152000	0.10145	.	.	0.549000	0.26987	0.000000	0.06391	0.067000	0.22148	0.662000	0.33024	0.0:0.8965:0.0:0.1035	10.438	0.43636	716	0.55970	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1264.98	37	chr19	40502285	.	C	T	1264.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.018;DP=834;ExcessHet=0.0000;FS=5.382;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.06;ReadPosRankSum=-6.700e-01;SOR=1.251	GT:AD:DP:GQ:PL	0/1:40,50:90:99:1279,0,971	20	0	1	0
chr19	40572136	40572136	G	C	exonic	SPTBN4	.	nonsynonymous SNV	SPTBN4:NM_020971:exon34:c.G7437C:p.K2479N,	.	.	419	1100	3	0	0	3	0.00136178	.	.	728194	not_provided|SPTBN4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.32	T	0.001	B	0.003	B	0.006	U	1.000	D	-1.005	N	1.57	T	-1.033	T	0.009	T	0.041	1.547	11.13	0.19	0.290	-0.233	1.026	0.040	.	0.0068	0.0081869	0.0030	0.0175	0.0007	0	0.0002	0.0013	0.0011	0.0055	0.0028395	439	154602	rs150725660	0.0013	0.0013	0.0012	0.0014	0.0163	0.0012	0.0012	0.0152	0.0147	0.0163	0.0010	0.0221	0	7.494e-05	0.0019	0.0001	0.0029	0.0044	0.0053	0.0053	0.0053	0.0053	0.0156	0.0050	0.0049	0.0146	0.0142	0.0156	0	0.0028	0.0182	0	0.0004	0	0.0003	0.0019	0.0050	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.006347	0.32094	U	0.204861	0.506023	0.32184	D	-1.59	0.00435	N	1.57	0.29342	T	0.44	0.03243	N	0.254	0.34336	-1.0326	0.19618	T	0.009	0.03271	T	10	0.0031417012	0.00052	T	.	.	.	0.040	0.10527	0.484	0.56621	0.178374595973	0.17440	0.22154337601812357	0.22069	.	.	0.530025839806	0.43038	T	0.00229	0.36568	T	-0.717562	0.00029	T	-0.789879	0.02168	T	0.0153562222609346	0.00342	T	0.572743	0.20478	T	0.04758623	0.08158	0.04087529	0.04519	0.03104318	0.02873	0.036535412	0.03119	-2.256	0.04321	T	.	.	0.145	0.43158	B	.;.;.;.	.;.;.;.	1.624941	0.20752	14.89	0.98177518553873799	0.38916	0.16356	0.19351	N	AEFBI	0.170118	0.29699	N	-1.03815096443109	0.07821	0.3646875	-0.875245870185886	0.12682	0.6537782	0.999590305562943	0.40745	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.98	0.19	0.14406	-0.470000	0.06717	.	.	-0.127000	0.13314	0.000000	0.06391	0.987000	0.30940	0.995000	0.73285	0.3687:0.1385:0.3345:0.1584	1.026	0.01433	744	0.52588	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1885.98	50	chr19	40572136	.	G	C	1885.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.256e+00;DP=1188;ExcessHet=0.0000;FS=12.935;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=1.35;SOR=1.404	GT:AD:DP:GQ:PL	0/1:75,79:154:99:1900,0,1979	20	0	1	0
chr19	42095399	42095399	C	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.G1018C:p.V340L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.989	D	0.000	D	1.000	D	3.53	H	-4.0	D	1.095	D	0.951	D	0.859	4.691	26.0	3.99	2.214	7.600	15.399	0.939	0.359661340362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.998	0.77913	D	0.989	0.78396	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.015	0.86134	M	-4.0	0.96339	D	-3.0	0.62343	D	0.826	0.82862	1.095	0.99469	D	0.951	0.98412	D	10	0.89701736	0.89057	D	0.359661	0.92479	D	0.939	0.98672	0.557	0.67547	0.949703262491	0.94917	0.9550304941655845	0.95488	2.60485491865	0.98196	0.885964512825	0.94748	D	0.792883	0.99163	D	0.495984	0.94173	D	0.47467	0.94096	D	0.993351914106228	0.84121	D	0.988801	0.96255	D	0.74310046	0.80470	0.69191414	0.81869	0.74310046	0.80471	0.69191414	0.81870	-12.988	0.89314	D	.	.	1.000	0.99395	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.327483	0.89412	30	0.99782441860528814	0.86867	0.97748	0.76847	D	AEFBI	0.946708	0.95645	D	0.844617874197824	0.88800	9.71644	0.738513627196856	0.85298	8.538503	0.999999999650972	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.667671	0.60360	0	0.699875	0.68795	0	.	.	3.99	3.99	0.45527	7.854000	0.85267	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.399	0.74539	846	0.36215	.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.225	1076.49	79	chr19	42095399	.	C	G	1076.49	.	AC=9;AF=0.225;AN=40;BaseQRankSum=-3.789e+00;DP=1906;ExcessHet=4.7172;FS=144.686;InbreedingCoeff=-0.3152;MLEAC=10;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=1.33;ReadPosRankSum=0.594;SOR=10.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,22:113:61:.:.:61,0,1809	11	0	9	1
chr19	43175352	43175352	T	C	exonic	PSG5	.	nonsynonymous SNV	PSG5:NM_001130014:exon4:c.A827G:p.N276S	.	.	11	1510	1	0	0	1	0.000331016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.986	D	0.99	D	.	.	1.000	N	2.415	M	2.57	T	-0.394	T	0.584	D	0.113	1.365	10.49	-0.21	-0.332	-0.704	3.447	0.153	0.00312319266317	.	0.000599042	0.0002	0	0	0	0	0	0.0022	0.0015	0.0002005	31	154602	rs537675354	0.0001	0.0001	5.175e-05	0.0002	0.0015	9.339e-05	8.822e-05	0.0013	0.0012	0	0	0	0	0	0	1.26e-05	0.0002	0.0015	4.613e-05	4.597e-05	5.159e-05	4.041e-05	0.0015	2.115e-05	1.53e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.002	0.72154	D	0.027	0.55341	D	0.936	0.52359	P	0.908	0.64494	P	.	.	.	.	1	0.08975	N	1.845	0.48678	L	-1.35	0.80035	T	-3.69	0.70432	D	0.179	0.19325	-0.3938	0.72222	T	0.584	0.85065	D	9	0.027979553	0.00936	T	0.003123	0.06786	T	0.153	0.40148	0.659	0.79689	0.650989611486	0.64808	0.01608729491796774	0.01564	0.180147681555	0.20266	.	.	.	0.006157	0.05598	T	-0.444378	0.01219	T	-0.430109	0.29923	T	0.172009851883303	0.18716	T	0.862314	0.82846	D	0.19293101	0.40982	0.1623577	0.37718	0.19293101	0.40982	0.1623577	0.37717	-6.758	0.52246	T	.	.	0.106	0.19478	B	.;.;.;.;.	.;.;.;.;.	0.898732	0.12724	9.246	0.9859375106068442	0.43414	0.00231	0.01293	N	AEFI	0.030796	0.03169	N	-0.45106145130432	0.23703	1.274801	-0.793369429164894	0.14658	0.7669994	1.67300880861564E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.25	-0.21	0.12529	-0.153000	0.10130	.	.	0.476000	0.22017	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2871:0.0:0.7129	3.447	0.07053	793	0.45818	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|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	5253.98	65	chr19	43175352	.	T	C	5253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=1829;ExcessHet=0.0000;FS=0.528;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=-6.800e-01;SOR=0.773	GT:AD:DP:GQ:PL	0/1:216,199:415:99:5268,0,5551	20	0	1	0
chr19	43267796	43267796	A	T	exonic	PSG9	.	nonsynonymous SNV	PSG9:NM_001301707:exon2:c.T418A:p.F140I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.165	B	0.079	B	.	.	1.000	N	0.405	N	2.82	T	-1.027	T	0.058	T	0.213	0.413	6.243	.	0.103	-1.554	.	0.000	0.00107078527148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.54683	D	0.104	0.46406	T	0.022	0.28508	B	0.075	0.28327	B	.	.	.	.	1	0.08975	N	0.29	0.10111	N	2.86	0.43672	T	-1.99	0.45949	N	0.236	0.32259	-1.0268	0.21494	T	0.058	0.24317	T	7	0.10529524	0.19454	T	0.001071	0.01239	T	0.000	0.00003	0.42	0.46200	0.0846915920261	0.08053	0.15720233502762043	0.15641	0.00478119465073	0.00421	0.414086461067	0.27022	T	0.027164	0.24209	T	-0.286134	0.10027	T	-0.648788	0.09039	T	0.0715567549269701	0.08867	T	0.512749	0.22935	T	0.08695116	0.20229	0.101692066	0.24351	0.08695116	0.20229	0.101692066	0.24350	-7.034	0.56650	T	.	.	0.110	0.33619	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.097146	0.14815	11.35	0.92038634082788506	0.21380	0.00191	0.01107	N	AEFBI	0.023902	0.01398	N	-1.25389289789893	0.04248	0.1913798	-1.37669928674594	0.03502	0.1634731	0.0463139666115677	0.14685	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-1.314000	0.02823	.	.	-1.178000	0.01389	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	830	0.39242	Immunoglobulin subtype;Immunoglobulin subtype;Immunoglobulin subtype;Immunoglobulin subtype;Immunoglobulin subtype;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	0.02381	3409.98	33	chr19	43267796	.	A	T	3409.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.572e+00;DP=1015;ExcessHet=0.0000;FS=0.940;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-1.034e+00;SOR=0.775	GT:AD:DP:GQ:PL	0/1:149,124:273:99:3424,0,4239	20	0	1	0
chr19	44647519	44647519	G	A	exonic	PVR	.	nonsynonymous SNV	PVR:NM_001135768:exon2:c.G376A:p.V126I	.	.	0	1516	4	2	0	8	0.00263158	.	.	3464794	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.35	T	0.492	P	0.206	B	0.031	N	1.000	N	1.08	L	-3.69	D	-0.076	T	0.709	D	0.073	1.566	11.19	3.74	1.003	2.595	8.546	0.320	0.21382331861	7.7e-05	.	0.0003	0	0	0.0001	0.0002	0.0001	0.0023	0.0011	0.000194	30	154602	rs138482699	0.0002	0.0002	0.0002	0.0003	0.0012	0.0002	0.0002	0.0010	0.0009	0	4.472e-05	0	2.519e-05	7.49e-05	0.0012	0.0002	0.0002	0.0012	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	0.0001	0.0008	0.0006	2.407e-05	0	0.0004	0	0	0	0	0.0002	0	0.0017	0.025	0.47745	D	0.048	0.48594	D	0.226	0.32352	B	0.195	0.36592	B	0.030661	0.25275	N	0.277608	1	0.08975	N	1.15	0.29295	L	-3.69	0.95317	D	-0.86	0.24026	N	0.056	0.06454	-0.0765	0.80631	T	0.709	0.90013	D	10	0.059283376	0.07101	T	0.213823	0.87426	D	0.320	0.64215	.	.	0.633565471745	0.63056	0.2864253983264833	0.28555	0.452670513317	0.44982	0.432722002268	0.29580	T	0.035501	0.23742	T	-0.311845	0.07587	T	-0.271161	0.47703	T	0.0430919524684804	0.04254	T	0.874113	0.60417	D	.	.	.	.	.	.	.	.	-3.315	0.13932	T	.	.	0.124	0.26947	B	.;.;.;.	.;.;.;.	2.278688	0.29133	18.02	0.99266563083190673	0.57390	0.67107	0.33313	D	AEFDBI	0.098484	0.19845	N	-0.430932108369518	0.24392	1.316678	-0.420939509308502	0.24383	1.334928	0.999999971802364	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.570548	0.19454	0	0.735409	0.98432	0	.	.	4.78	3.74	0.42108	2.400000	0.44157	.	.	-0.320000	0.05874	0.442000	0.26503	0.263000	0.23997	0.012000	0.09680	0.108:0.0:0.892:0.0	8.546	0.32580	712	0.56465	Immunoglobulin V-set domain|Immunoglobulin subtype;.;.;Immunoglobulin V-set domain|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	0.02381	1619.98	34	chr19	44647519	.	G	A	1619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.212e+00;DP=845;ExcessHet=0.0000;FS=3.287;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=0.879;SOR=0.455	GT:AD:DP:GQ:PL	0/1:60,67:127:99:1634,0,1508	20	0	1	0
chr19	44878273	44878273	G	A	exonic	NECTIN2	.	nonsynonymous SNV	NECTIN2:NM_002856:exon6:c.G1093A:p.V365M,	.	.	409	1093	20	0	0	20	0.00906618	.	.	2808886	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.861	P	0.173	B	.	.	1.000	D	1.935	M	-0.53	T	-0.600	T	0.234	T	0.119	3.731	18.95	4.63	1.401	3.099	8.778	0.150	.	0.0025	0.00399361	0.0102	0	0.0038	0	0.0238	0.0054	0	0.0428	0.0014618	226	154602	rs201037066	0.0038	0.0036	0.0035	0.0041	0.0116	0.0037	0.0037	0.0109	0.0107	0.0006	0.0006	0.0025	5.91e-05	0.0085	0.0040	0.0033	0.0033	0.0116	0.0028	0.0028	0.0024	0.0032	0.0121	0.0026	0.0025	0.0096	0.0087	0.0007	0	0.0010	0.0020	0.0002	0.0071	0.0034	0.0035	0.0005	0.0121	0.054	0.38633	T	0.084	0.41239	T	0.861	0.47410	P	0.173	0.35463	B	.	.	.	.	1	0.81001	D	.	.	.	-0.53	0.70833	T	-1.27	0.31981	N	0.219	0.24510	-0.6000	0.64817	T	0.234	0.60124	T	9	0.008009136	0.00182	T	.	.	.	0.150	0.39571	.	.	0.737711754149	0.73536	.	.	.	.	.	.	.	.	.	.	-0.446057	0.01191	T	-0.404112	0.32908	T	0.0117879295304798	0.00182	T	0.623938	0.24053	T	.	.	.	.	.	.	.	.	-7.608	0.58367	D	.	.	0.223	0.45384	B	.	.	3.629833	0.51407	23.1	0.99887540941415998	0.96204	0.89664	0.50274	D	AEFDBI	0.388972	0.46837	N	0.301856988620212	0.56242	3.789	0.355470249689991	0.58839	4.056976	0.976040442937437	0.29689	0.706548	0.73137	0	0.588015	0.36545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.66	4.63	0.57175	2.479000	0.44857	.	.	0.657000	0.54293	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1701:0.0:0.8299:0.0	8.778	0.33933	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2189.11	33	chr19	44878273	.	G	A	2189.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.310;DP=879;ExcessHet=0.1072;FS=1.182;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.58;ReadPosRankSum=0.907;SOR=0.792	GT:AD:DP:GQ:PL	0/1:46,47:93:99:1199,0,1136	19	0	2	0
chr19	46755970	46755970	A	T	exonic	FKRP	.	nonsynonymous SNV	FKRP:NM_001039885:exon4:c.A520T:p.S174C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	102004	Cardiovascular_phenotype|Walker-Warburg_congenital_muscular_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I|Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|not_provided|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1|Muscular_dystrophy-dystroglycanopathy_type_B5|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5	MedGen:CN230736|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155,Orphanet:34515|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,Orphanet:588,Orphanet:899|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612,Orphanet:52428|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153,Orphanet:588,Orphanet:899	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	0.000	D	0.902	D	0.345	N	-6.08	D	0.786	D	0.895	D	0.701	2.034	12.76	3.52	0.745	3.374	8.011	0.614	.	0.0006	0.00579073	0.0118	0.0027	0	0	0	0.0058	0	0.0161	0.002044	316	154602	rs200990647	0.0023	0.0023	0.0020	0.0027	0.0144	0.0022	0.0022	0.0138	0.0135	0.0002	0.0006	0.0010	0.0011	0.0002	0.0007	0.0017	0.0026	0.0144	0.0015	0.0015	0.0013	0.0017	0.0190	0.0014	0.0013	0.0159	0.0147	0.0004	0	0.0008	0.0012	0.0021	0.0002	0	0.0014	0	0.0190	0.02	0.49613	D	0.005	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	0.000094	0.51296	D	0.170964	0.902163	0.36198	D	0.345	0.11182	N	-6.08	0.99517	D	-2.6	0.55983	D	0.491	0.74280	0.786	0.94236	D	0.895	0.96512	D	10	0.009832382	0.00221	T	.	.	.	0.614	0.84932	.	.	0.839388427273	0.83785	0.7137535700374018	0.71318	1.29733811053	0.82933	0.929733991623	0.98973	D	0.527196	0.83572	D	-0.0854319	0.38827	T	0.116183	0.77981	D	0.0284877121389715	0.01759	T	0.807619	0.45757	T	0.49096623	0.66561	0.2004119	0.43971	0.559256	0.70470	0.28949234	0.54969	-6.403	0.49533	T	0.446524041138075	0.53109	0.675	0.72091	P	.;.;.	.;.;.	3.434349	0.47750	22.5	0.98427601384636587	0.41354	0.88752	0.48831	D	AEFDBI	0.400106	0.47512	N	-0.434184271767077	0.24279	1.309852	-0.308591873975597	0.27819	1.54648	0.998100821236895	0.36433	0.700653	0.57754	0	0.694456	0.67091	0	0.717052	0.78885	0	0.669	0.65921	0	.	.	4.55	3.52	0.39415	1.737000	0.37821	8.870000	0.78330	0.658000	0.54486	0.962000	0.33725	1.000000	0.68203	0.617000	0.31819	0.6732:0.0:0.0:0.3268	8.011	0.29516	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	3075.11	33	chr19	46755970	.	A	T	3075.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.372;DP=1067;ExcessHet=0.1072;FS=1.917;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=1.26;SOR=0.829	GT:AD:DP:GQ:PL	0/1:93,78:171:99:1888,0,2451	19	0	2	0
chr19	49022974	49022974	T	G	exonic	CGB3	.	nonsynonymous SNV	CGB3:NM_000737:exon3:c.A410C:p.D137A,	.	.	87	1430	5	0	0	5	0.0017452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	.	.	.	.	0.802	N	1.000	N	.	.	0.98	T	-1.033	T	0.016	T	0.289	-1.456	0.019	0.728	-0.037	0.809	6.304	0.077	.	.	.	0.0034	0.0010	0.0017	0.0187	0.0008	0.0017	0	0.0026	0.0011142	29	26028	rs200199557	0.0026	0.0030	0.0026	0.0026	0.0284	0.0025	0.0025	0.0270	0.0264	0.0011	0.0015	0.0013	0.0284	0.0010	0.0012	0.0018	0.0028	0.0025	0.0026	0.0028	0.0025	0.0027	0.0227	0.0024	0.0023	0.0193	0.0180	0.0014	0	0.0017	0.0021	0.0227	0.0007	0	0.0021	0.0016	0.0065	0.54	0.06802	T	0.715	0.05434	T	.	.	.	.	.	.	0.801573	0.09319	N	0.912604	1	0.08975	N	.	.	.	0.98	0.52187	T	1.04	0.01332	N	0.06	0.03175	-1.0329	0.19522	T	0.016	0.06664	T	7	0.004760444	0.00101	T	.	.	.	0.077	0.22490	.	.	0.231005064126	0.22704	0.04442556374414927	0.04386	2.04831823374	0.94325	0.619399189949	0.55644	T	0.006793	0.06218	T	-0.220466	0.17930	T	-0.55446	0.16900	T	0.00164960762368438	0.00017	T	.	.	.	0.0275371	0.01959	0.045615837	0.06176	0.0275371	0.01959	0.045615837	0.06175	-3.349	0.14378	T	.	.	.	.	.	.;.	.;.	-0.320042	0.02531	0.302	0.23343022011590989	0.00982	0.00525	0.02440	N	AEFI	0.012744	0.00148	N	-1.35207506264399	0.03104	0.1381007	-1.45006528752946	0.02769	0.1279868	6.53247957603065E-5	0.04366	0.516011	0.20929	0	0.588066	0.40923	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	1.8	0.728	0.17411	-0.108000	0.10827	0.215000	0.16006	-3.665000	0.00068	0.012000	0.18695	0.838000	0.27274	0.002000	0.04165	0.0:0.0:0.4707:0.5293	6.304	0.20335	759	0.50631	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	606.1	20	chr19	49022974	.	T	G	606.1	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.058e+00;DP=535;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0317;MLEAC=1;MLEAF=0.024;MQ=41.23;MQRankSum=2.10;QD=24.24;ReadPosRankSum=-1.151e+00;SOR=0.818	GT:AD:DP:GQ:PL	0/1:7,18:25:99:620,0,205	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	0/1:41,27,0,0:68:99:.:.:890,0,1488,1013,1570,2583,1013,1570,2583,2583	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	0/1:41,27,0,0:68:99:.:.:890,0,1488,1013,1570,2583,1013,1570,2583,2583	5	4	8	0
chr19	50454331	50454331	G	A	exonic	MYBPC2	.	stopgain	MYBPC2:NM_004533:exon18:c.G1976A:p.W659X,	.	.	428	1079	15	0	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.003	U	1.000	A	.	.	.	.	.	.	.	.	.	6.891	38	3.47	1.978	8.250	12.345	.	.	.	0.000199681	0.0004	0	0.0002	0	0	0.0004	0	0.0014	0.0003428	53	154602	rs201432361	0.0003	0.0003	0.0002	0.0003	0.0036	0.0003	0.0002	0.0024	0.0021	0	0.0002	0.0007	0	3.746e-05	0.0036	0.0002	0.0006	0.0016	0.0002	0.0002	0.0003	0.0002	0.0017	0.0002	0.0002	0.0008	0.0006	0	0	0.0003	0.0003	0	0	0.0034	0.0003	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	0.002862	0.35804	U	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.235	0.26475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299576	0.82934	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	10.462229	0.99753	47	0.99737816710304616	0.83264	0.99008	0.89887	D	AEFBI	0.239093	0.36112	N	0.779616868943153	0.84816	8.394412	0.599427983177341	0.74899	6.216245	0.462213884776719	0.20634	0.615465	0.37627	0	0.633656	0.55848	0	0.596874	0.31795	0	0.542086	0.14980	0	.	.	3.47	3.47	0.38831	8.949000	0.92922	11.644000	0.93817	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	12.345	0.54442	867	0.32089	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	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	2715.98	73	chr19	50454331	.	G	A	2715.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.540;DP=1362;ExcessHet=0.0000;FS=4.432;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.97;MQRankSum=-8.240e-01;QD=15.09;ReadPosRankSum=-1.278e+00;SOR=1.012	GT:AD:DP:GQ:PL	0/1:74,106:180:99:2730,0,1758	20	0	1	0
chr19	50659066	50659066	G	T	exonic	C19orf81	.	nonsynonymous SNV	C19orf81:NM_001195076:exon5:c.G521T:p.R174L,	.	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	0.55	N	.	.	-0.799	T	0.112	T	0.755	4.421	23.5	3.02	1.725	2.900	11.355	0.414	0.0918840828371	.	.	0.0009	0	0	0	.	0	0	0.0014	6.47e-05	10	154602	rs760965435	3.855e-05	3.694e-05	1.723e-05	6.044e-05	0.0006	3.007e-05	2.727e-05	0.0005	0.0004	0	0	0	0	0	0	2.793e-06	3.48e-05	0.0006	1.972e-05	1.969e-05	3.858e-05	0	0.0004	5.24e-06	2.45e-06	7.304e-05	3.034e-05	0	0	0	0	0	0	0	1.472e-05	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.540705	0.81001	N	1.445	0.36358	L	.	.	.	-3.38	0.66780	D	0.417	0.45709	-0.7986	0.55227	T	0.112	0.40006	T	6	0.09799054	0.17686	T	0.091884	0.75790	D	0.414	0.72479	0.342	0.33464	0.38225645794	0.37833	0.1834811869629176	0.18267	.	.	.	.	.	0.118251	0.43892	T	-0.0646598	0.42175	T	0.0290286	0.72215	D	0.334755943418247	0.26415	T	0.730127	0.34567	T	0.5203803	0.68281	0.6367331	0.78789	0.5203803	0.68282	0.6367331	0.78789	-4.27	0.27754	T	.	.	0.541	0.66506	A	.;.	.;.	5.178231	0.86818	29.0	0.99738752881453607	0.83337	0.82858	0.42030	D	ALL	0.432217	0.49418	N	0.038993436689142	0.43638	2.652788	0.0737460440890597	0.43233	2.629355	0.999999999999978	0.74766	0.468429	0.09910	2	0.514364	0.08380	0	0.504199	0.09095	0	0.249971	0.05119	0	.	.	3.02	3.02	0.33970	3.438000	0.52634	11.222000	0.89806	0.671000	0.69459	0.843000	0.30332	1.000000	0.68203	0.952000	0.50033	0.0:0.0:1.0:0.0	11.355	0.48852	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	1262.98	35	chr19	50659066	.	G	T	1262.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.67;DP=814;ExcessHet=0.0000;FS=0.736;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=0.202;SOR=0.836	GT:AD:DP:GQ:PL	0/1:55,50:105:99:1277,0,1204	20	0	1	0
chr19	51481533	51481533	A	G	exonic	CEACAM18	.	nonsynonymous SNV	CEACAM18:NM_001278392:exon3:c.A541G:p.M181V,	.	.	427	1094	0	1	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.107	B	0.035	B	.	.	1.000	N	1.76	L	-0.91	T	-0.855	T	0.264	T	0.145	0.270	5.460	1.65	0.441	0.390	5.800	0.046	0.00563856073738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.25560	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.34	0.67151	M	.	.	.	-1.46	0.35792	N	0.121	0.11197	-0.8549	0.51627	T	0.264	0.63523	T	9	0.09203452	0.16172	T	0.005639	0.14591	T	0.046	0.12618	.	.	0.104622674875	0.10061	0.4233184182931337	0.42248	.	.	0.42408272624	0.28399	T	0.003948	0.03363	T	-0.198369	0.21042	T	-0.52272	0.20019	T	0.0989541778338474	0.12241	T	0.433757	0.11839	T	0.12933953	0.30211	0.26560628	0.52395	0.12933953	0.30211	0.26560628	0.52394	-5.141	0.38336	T	.	.	0.129	0.27642	B	.	.	0.343458	0.07169	3.755	0.42481047633239333	0.03134	0.00829	0.03338	N	AEFBCI	0.046578	0.07750	N	-0.859465106758912	0.11817	0.5724291	-0.96492854784367	0.10579	0.5336915	8.47715955087491E-4	0.07902	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.72	1.65	0.23015	0.137000	0.15816	.	.	0.704000	0.85292	0.068000	0.22015	0.001000	0.17328	0.005000	0.06747	0.7234:0.2766:0.0:0.0	5.800	0.17673	964	0.07719	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	0.02381	2501.98	41	chr19	51481533	.	A	G	2501.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.817;DP=1025;ExcessHet=0.0000;FS=8.001;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=0.569;SOR=0.995	GT:AD:DP:GQ:PL	0/1:101,100:201:99:2516,0,2460	20	0	1	0
chr19	52384817	52384817	-	TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG	exonic	ZNF880	.	frameshift insertion	ZNF880:NM_001145434:exon4:c.1237_1238insTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG:p.C413Ffs*26,	.	.	356	750	399	11	6	427	0.219157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	9.004e-05	0.0002	0	0.0002	0.0011	0.0001	.	.	.	.	0.0011	0.0034	0.0011	0.0011	0.0017	0.0011	0.0010	0.0015	0.0014	0.0015	0.0014	0.0027	0.0017	0.0016	0.0012	0.0009	0.0017	0.0017	0.0051	0.0069	0.0056	0.0045	0.0071	0.0048	0.0046	0.0051	0.0050	0.0046	0.0045	0.0056	0.0051	0.0026	0.0033	0.0106	0.0056	0.0030	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	8259.44	38	chr19	52384817	.	T	TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG,TTTGGGAGGCCGAGGCGG	8259.44	.	AC=1,11;AF=0.024,0.262;AN=42;BaseQRankSum=2.83;DP=1581;ExcessHet=9.6308;FS=104.319;InbreedingCoeff=-0.4000;MLEAC=1,11;MLEAF=0.024,0.262;MQ=58.44;MQRankSum=-8.940e-01;QD=11.25;ReadPosRankSum=-1.179e+00;SOR=7.257	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:74,0,20:94:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:586,815,3927,0,3111,3051:52384817	9	0	1	0
chr19	52384821	52384821	-	ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC	exonic	ZNF880	.	stopgain	ZNF880:NM_001145434:exon4:c.1241_1242insATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC:p.K415Sfs*2,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs779596445	0.0025	0.0048	0.0023	0.0026	0.0055	0.0024	0.0024	0.0049	0.0047	0.0026	0.0023	0.0064	0.0055	0.0054	0.0049	0.0021	0.0039	0.0011	0.0043	0.0060	0.0044	0.0042	0.0054	0.0040	0.0039	0.0044	0.0042	0.0032	0.0046	0.0037	0.0089	0.0041	0.0034	0.0118	0.0048	0.0042	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	3280.27	29	chr19	52384821	.	G	GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA,GAT,GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC	3280.27	.	AC=3,3,2;AF=0.071,0.071,0.048;AN=42;BaseQRankSum=1.87;DP=1287;ExcessHet=3.5521;FS=78.611;InbreedingCoeff=-0.2353;MLEAC=3,3,2;MLEAF=0.071,0.071,0.048;MQ=58.72;MQRankSum=-1.592e+00;QD=8.99;ReadPosRankSum=-1.672e+00;SOR=8.320	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:75,0,11,0:86:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:236,462,3607,0,3145,3112,462,3607,3145,3607:52384817	13	0	3	0
chr19	52384823	52384823	-	TGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG	exonic	ZNF880	.	stopgain	ZNF880:NM_001145434:exon4:c.1243_1244insTGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG:p.K415_R577delinsMRSGDRDHPG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0024	0.0009	0.0008	0.0016	0.0008	0.0008	0.0013	0.0012	0.0013	0.0007	0.0025	0.0016	0.0021	0.0013	0.0007	0.0016	0.0003	0.0032	0.0058	0.0032	0.0032	0.0034	0.0030	0.0029	0.0031	0.0029	0.0028	0.0057	0.0034	0.0042	0.0020	0.0031	0.0038	0.0034	0.0035	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	781.36	29	chr19	52384823	.	A	ATGAGGTCAGGAGATCGAGACCATCCTGGCTAAC,ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG	781.36	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=0.162;DP=1374;ExcessHet=0.3300;FS=74.449;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=58.96;MQRankSum=-2.862e+00;QD=4.41;ReadPosRankSum=-2.141e+00;SOR=6.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:75,0,10:85:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:194,420,3565,0,3145,3115:52384817	18	0	2	0
chr19	54148530	54148530	C	T	exonic	CNOT3	.	nonsynonymous SNV	CNOT3:NM_014516:exon11:c.C1277T:p.A426V,	.	.	309	1208	5	0	0	5	0.00206526	.	.	1687373	not_provided|CNOT3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.141	B	0.012	B	0.521	N	0.916	D	0.55	N	0.81	T	-0.958	T	0.118	T	0.41	2.709	15.02	3.15	1.782	2.590	11.650	0.037	.	0.0021	0.000798722	0.0050	0	0.0023	0	0.0131	0.0077	0	0.0006	0.0025744	398	154602	rs181910878	0.0033	0.0033	0.0032	0.0033	0.0029	0.0032	0.0032	0.0028	0.0027	0.0004	0.0017	0.0390	0	0.0034	0.0029	0.0028	0.0049	0.0006	0.0033	0.0033	0.0037	0.0029	0.0040	0.0031	0.0030	0.0036	0.0034	0.0007	0	0.0014	0.0395	0	0.0031	0	0.0040	0.0038	0.0002	0.254	0.16903	T	0.376	0.40110	T	0.075	0.24198	B	0.007	0.12992	B	0.521279	0.11739	N	0.721547	0.513227	0.36542	D	0.345	0.11182	N	0.81	0.48460	T	-0.39	0.13611	N	0.319	0.35938	-0.9577	0.39608	T	0.118	0.41429	T	10	0.0043530464	0.00088	T	.	.	.	0.078	0.22779	.	.	0.316310170894	0.31242	0.28156116599128467	0.28069	.	.	0.791018366814	0.80598	T	0.058771	0.30933	T	-0.428999	0.01503	T	-0.385696	0.35055	T	0.011296357045809	0.00167	T	0.814619	0.58869	T	0.09056884	0.21196	0.09355266	0.22103	0.101594664	0.24000	0.08740163	0.20313	-4.182	0.26490	T	.	.	0.101	0.40570	B	.;.;.;.;.	.;.;.;.;.	3.985483	0.58615	24.0	0.99851945373200446	0.93102	0.70909	0.34788	D	AEFBCI	0.225831	0.34987	N	-0.00409350171236159	0.41669	2.496618	0.0410581581743397	0.41641	2.505212	0.00757950915820653	0.11497	0.722319	0.85440	0	0.702456	0.74545	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	3.15	3.15	0.35301	2.644000	0.46279	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	11.650	0.50546	994	0.00715	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	522.98	33	chr19	54148530	.	C	T	522.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.120e-01;DP=788;ExcessHet=0.0000;FS=1.989;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.79;ReadPosRankSum=1.55;SOR=0.462	GT:AD:DP:GQ:PL	0/1:51,26:77:99:537,0,1365	20	0	1	0
chr19	54240481	54240481	-	ATAACC	exonic	LILRA6	.	nonframeshift insertion	LILRA6:NM_001360167:exon6:c.1041_1042insGGTTAT:p.S347_R348insGY	.	.	100	1406	1	4	11	20	0.00319036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0044	0.0003	0.0004	0.0015	0.0003	0.0003	0.0008	0.0006	6.026e-05	0.0002	0.0009	0.0001	0.0009	0.0015	0.0003	0.0005	0.0007	0.0005	0.0035	0.0005	0.0005	0.0008	0.0004	0.0004	0.0006	0.0005	7.538e-05	0	0.0004	0.0007	0	0.0006	0	0.0007	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	197.74	48	chr19	54240481	.	A	AATAACC	197.74	.	AC=2;AF=0.048;AN=42;DP=2409;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.8521;MLEAC=1;MLEAF=0.024;MQ=40.95;QD=32.82;SOR=1.981	GT:AD:DP:GQ:PL	1/1:0,5:5:15:224,15,0	20	1	0	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|1:333,79,0:412:99:0|1:54633108_T_G:2315,0,13697,3317,13935,17252:54633108	1	0	19	0
chr19	54742019	54742019	C	T	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon3:c.C110T:p.P37L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.181	B	0.069	B	.	.	1.000	N	2.52	M	5.76	T	-1.016	T	0.017	T	0.347	0.259	5.400	0.507	0.253	1.801	5.886	0.076	0.00102173653182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.394e-07	7.092e-07	0	1.485e-06	2.396e-05	0	0	.	.	0	2.396e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.01	0.65728	D	0.181	0.29111	B	0.041	0.23986	B	.	.	.	.	1	0.08975	N	2.56	0.74772	M	3.95	0.03382	T	-6.54	0.91786	D	0.223	0.25006	-1.0164	0.24884	T	0.017	0.06807	T	9	0.12389034	0.23525	T	0.001022	0.01120	T	0.076	0.22200	0.37	0.38013	0.335164054921	0.33125	0.19209035572317168	0.19127	1.791941562	0.91524	.	.	.	0.020233	0.15966	T	-0.175002	0.24481	T	-0.489154	0.23479	T	0.20912588440861	0.20907	T	.	.	.	0.17275815	0.37985	0.1681736	0.38757	0.17275815	0.37985	0.1681736	0.38756	-8.822	0.66544	D	.	.	0.125	0.26514	B	.	.	1.590162	0.20337	14.70	0.57320471306848364	0.05743	0.01560	0.05104	N	AEFI	0.030433	0.03063	N	-1.06537834965913	0.07289	0.338164	-1.21954413589658	0.05596	0.2670848	1.74798417143001E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.6	0.507	0.16168	1.859000	0.39058	.	.	0.303000	0.18983	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.0:0.6648:0.3352:0.0	5.886	0.18127	964	0.07719	Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	38391.65	39	chr19	54742019	.	C	G,T	38391.65	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-4.248e+00;DP=5023;ExcessHet=10.5502;FS=2.011;InbreedingCoeff=-0.4135;MLEAC=15,1;MLEAF=0.357,0.024;MQ=49.81;MQRankSum=0.016;QD=8.38;ReadPosRankSum=0.547;SOR=0.509	GT:AD:DP:GQ:PL	0/1:214,196,0:410:99:4837,0,6358,5480,6947,12427	6	0	14	0
chr19	54752248	54752248	A	G	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon7:c.A853G:p.N285D,	.	.	472	988	53	9	0	71	0.0346849	.	.	2344988	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-0.57	N	7.23	T	-0.979	T	0.000	T	0.048	-2.063	0.006	0.909	-0.027	-0.432	3.427	0.023	0.000468388808781	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796591477	3.719e-06	8.145e-05	2.959e-06	4.488e-06	3.319e-05	1.09e-06	7.9e-07	4.37e-06	1.64e-06	3.319e-05	0	0	0	0	0	1.955e-06	0	2.636e-05	0	2.062e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.681	0.04417	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.885	0.01428	N	7.23	0.00430	T	1.41	0.00825	N	0.067	0.03956	-0.9794	0.35139	T	0.000	0.00152	T	9	0.046813875	0.03919	T	4.68E-4	0.00124	T	0.023	0.04649	0.254	0.19378	0.141422826196	0.13715	0.021484480057930886	0.02101	0.102646631919	0.11614	.	.	.	0.00138	0.00849	T	-0.424676	0.01598	T	-0.847794	0.00988	T	0.0696372147959041	0.08599	T	.	.	.	0.038748864	0.05221	0.03373727	0.02318	0.038748864	0.05221	0.03373727	0.02318	0.058	0.00329	T	.	.	0.059	0.00834	B	.	.	-0.515056	0.01820	0.143	0.70665495962579383	0.09370	0.00004	0.00092	N	AEFI	0.012143	0.00125	N	-1.67441242710064	0.00936	0.04055573	-1.68607278265976	0.01200	0.0540247	1.80848887901061E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	0.909	0.18460	-0.102000	0.10926	.	.	-0.344000	0.05652	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2968:0.0:0.7032:0.0	3.427	0.06984	970	0.06235	.	.	.	.	.	.	Uncertain significance	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	32.04	34	chr19	54752248	.	A	G	32.04	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0287;MLEAC=1;MLEAF=0.024;MQ=46.58;MQRankSum=-2.100e+00;QD=4.01;ReadPosRankSum=-2.100e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:6,2:8:46:46,0,246	20	0	1	0
chr19	54752378	54752378	A	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.A885T:p.E295D,	.	.	438	644	313	127	0	567	0.30566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.927	P	0.953	D	.	.	1.000	N	1.66	L	7.17	T	-0.907	T	0.003	T	0.251	0.161	4.868	-1.94	-0.713	0.615	4.008	0.053	0.000595427967978	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs76449138	0.0004	0.0045	0.0003	0.0006	0.0014	0.0004	0.0004	0.0012	0.0011	0.0009	0.0007	0.0004	0.0002	0.0006	0	0.0003	0.0006	0.0014	0.0004	0.0045	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0.0006	0.017	0.51248	D	0.362	0.16865	T	0.009	0.15093	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	7.17	0.00438	T	-1.3	0.32590	N	0.03	0.00717	-0.9072	0.47191	T	0.003	0.00800	T	9	0.06407854	0.08444	T	5.95E-4	0.00260	T	0.053	0.14996	0.345	0.33950	0.315609569513	0.31162	0.055351736594923893	0.05476	0.156621518827	0.17680	.	.	.	0.006609	0.06037	T	-0.243919	0.14853	T	-0.588149	0.13826	T	0.1719860881567	0.18714	T	.	.	.	0.072928816	0.16260	0.055293426	0.09672	0.072928816	0.16260	0.055293426	0.09672	-5.957	0.45918	T	.	.	0.102	0.17785	B	.	.	0.393611	0.07651	4.319	0.83992659330197972	0.15036	0.00398	0.01994	N	AEFI	0.034546	0.04300	N	-1.14210111889885	0.05910	0.2707387	-1.35039455156555	0.03801	0.1780508	3.36295698448585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-1.94	0.07158	0.608000	0.23921	.	.	0.538000	0.25075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3959:0.0:0.0:0.6041	4.008	0.09100	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	21150.31	340	chr19	54752378	.	A	T	21150.31	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-3.320e+00;DP=5262;ExcessHet=5.2939;FS=0.000;InbreedingCoeff=-0.2512;MLEAC=17;MLEAF=0.425;MQ=55.87;MQRankSum=-1.639e+01;QD=5.39;ReadPosRankSum=2.32;SOR=0.699	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2286,243,0	6	2	12	1
chr19	54752434	54752434	G	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G941C:p.R314T,	.	.	440	676	290	116	0	522	0.278549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.137	B	0.073	B	.	.	1.000	N	1.885	L	7.21	T	-0.958	T	0.001	T	0.079	-0.731	0.875	-2.12	-2.428	-1.068	4.380	0.018	0.000504783109797	.	.	9.107e-06	0	0	0	0	1.648e-05	0	0	0	0	26028	rs369659451	0.0001	0.0011	8.786e-05	0.0001	0.0006	0.0001	9.738e-05	0.0005	0.0004	0.0003	0.0001	0	0	0.0002	0.0002	8.061e-05	0.0001	0.0006	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.336	0.18232	T	0.038	0.21002	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	7.21	0.00433	T	-1.76	0.41618	N	0.15	0.15328	-0.9578	0.39589	T	0.001	0.00438	T	9	0.055743694	0.06139	T	5.05E-4	0.00153	T	0.018	0.03083	0.358	0.36060	0.197625483188	0.19356	0.07934385317345088	0.07869	0.381999604534	0.39540	.	.	.	0.008653	0.07927	T	-0.372433	0.03472	T	-0.772751	0.02679	T	0.0711279924993857	0.08808	T	.	.	.	0.058790613	0.11869	0.056505527	0.10109	0.058790613	0.11869	0.056505527	0.10109	-8.83	0.66596	D	.	.	0.103	0.18456	B	.	.	-0.693291	0.01336	0.074	0.50922294396745071	0.04470	0.00271	0.01473	N	AEFI	0.037209	0.05083	N	-1.83575514742651	0.00463	0.01994319	-2.00237195100838	0.00303	0.01337074	0.00114747052574219	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.12	0.06766	-2.589000	0.00974	.	.	-2.077000	0.00405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2846:0.2349:0.4805:0.0	4.380	0.10722	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	28617.15	340	chr19	54752434	.	G	C	28617.15	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-1.210e+00;DP=6144;ExcessHet=5.2939;FS=7.479;InbreedingCoeff=-0.2500;MLEAC=17;MLEAF=0.425;MQ=56.79;MQRankSum=-1.832e+01;QD=6.00;ReadPosRankSum=1.58;SOR=1.014	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2140,222,0	6	2	12	1
chr19	54752445	54752445	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C952T:p.R318C,	.	.	444	649	317	112	0	541	0.294182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.006	B	0.003	B	.	.	1.000	N	1.1	L	7.14	T	-0.946	T	0.001	T	0.168	-0.325	2.456	-1.82	-2.219	0.300	4.091	0.046	0.000730226801608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372921221	7.35e-05	0.0008	5.213e-05	9.518e-05	0.0004	6.171e-05	5.67e-05	0.0003	0.0002	0.0004	0.0001	4.416e-05	2.548e-05	0.0001	0	4.228e-05	3.658e-05	0.0004	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.101	0.38596	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.14	0.00441	T	-1.73	0.41046	N	0.081	0.05670	-0.9462	0.41615	T	0.001	0.00318	T	9	0.07376027	0.11187	T	7.3E-4	0.00491	T	0.046	0.12618	.	.	0.190952846119	0.18690	0.08507494458604588	0.08441	0.272347824251	0.29747	.	.	.	0.006919	0.06344	T	-0.301136	0.08553	T	-0.670337	0.07586	T	0.0816786993696317	0.10202	T	.	.	.	0.06286794	0.13178	0.048082765	0.07066	0.06286794	0.13177	0.048082765	0.07066	-8.692	0.65693	D	.	.	0.085	0.10159	B	.	.	0.663279	0.10314	7.048	0.77161828724750081	0.11761	0.00606	0.02697	N	AEFI	0.056180	0.10365	N	-1.90787109037655	0.00331	0.01420744	-2.03030551184277	0.00264	0.01165071	5.65618134037242E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-0.238000	0.08995	.	.	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2329:0.4799:0.2873:0.0	4.091	0.09446	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	33791.15	340	chr19	54752445	.	C	T	33791.15	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.020e-01;DP=6238;ExcessHet=5.2939;FS=10.711;InbreedingCoeff=-0.2500;MLEAC=17;MLEAF=0.425;MQ=56.95;MQRankSum=-1.853e+01;QD=6.90;ReadPosRankSum=-2.400e-01;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,65:65:99:1|1:54752445_C_T:2905,196,0:54752445	6	2	12	1
chr19	54752485	54752485	T	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.T992C:p.I331T,	.	.	458	776	181	107	0	395	0.202876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.001	B	0.004	B	.	.	1.000	N	0.74	N	7.07	T	-0.942	T	0.001	T	0.034	-1.003	0.256	-0.268	-0.552	-0.743	3.096	0.014	0.000598353408358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781524573	5.305e-06	0.0001	4.511e-06	6.112e-06	2.86e-05	2.21e-06	1.42e-06	4.75e-06	1.78e-06	0	0	0	0	5.995e-05	0	1.979e-06	0	2.86e-05	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.744	0.03653	T	0.196	0.27943	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	7.07	0.00449	T	1.38	0.00857	N	0.023	0.00407	-0.9420	0.42298	T	0.001	0.00318	T	9	0.04724872	0.04019	T	5.98E-4	0.00274	T	0.014	0.01968	0.471	0.54537	0.15556083564	0.15200	0.03272981040342714	0.03220	0.11650274929	0.13144	.	.	.	0.002103	0.01509	T	-0.435909	0.01367	T	-0.863929	0.00802	T	0.0462318255409502	0.04826	T	.	.	.	0.029743398	0.02519	0.04760247	0.06891	0.029743398	0.02518	0.04760247	0.06890	-0.729	0.00744	T	.	.	0.056	0.00487	B	.	.	-0.452449	0.02024	0.181	0.28219194255820729	0.01438	0.00196	0.01131	N	AEFI	0.020637	0.00835	N	-1.78857713604755	0.00574	0.02471146	-1.87148925175353	0.00557	0.02469536	2.05976653641204E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-0.268	0.12295	-0.692000	0.05228	.	.	-3.068000	0.00129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3083:0.394:0.2977	3.096	0.05931	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.375	17127.06	73	chr19	54752485	.	T	C	17127.06	.	AC=15;AF=0.375;AN=40;BaseQRankSum=1.81;DP=4524;ExcessHet=3.6553;FS=28.218;InbreedingCoeff=-0.1733;MLEAC=16;MLEAF=0.400;MQ=57.11;MQRankSum=-1.853e+01;QD=4.19;ReadPosRankSum=-2.676e+00;SOR=2.729	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,46:46:99:1|1:54752482_T_C:2043,138,0:54752482	7	2	11	1
chr19	54752511	54752511	G	A	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G1018A:p.E340K,	.	.	471	887	74	90	0	254	0.125247	.	.	2330855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.927	P	0.801	P	.	.	1.000	N	1.7	L	7.23	T	-0.964	T	0.002	T	0.108	-0.217	2.948	-1.82	-2.079	-1.122	6.337	0.023	0.00058277682123	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878939548	6.015e-06	0.0002	4.476e-06	7.577e-06	2.785e-05	2.59e-06	1.87e-06	4.62e-06	1.73e-06	0	0	0	0	3.975e-05	0	3.938e-06	0	2.785e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.169	0.22920	T	0.141	0.33442	T	0.014	0.16867	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.56	0.39490	L	7.23	0.00430	T	-1.59	0.38345	N	0.036	0.01068	-0.9636	0.38488	T	0.002	0.00707	T	9	0.048668027	0.04349	T	5.83E-4	0.00246	T	0.023	0.04649	0.359	0.36222	0.201204373187	0.19734	0.14158577538071196	0.14081	0.485544564949	0.47430	.	.	.	0.006937	0.06364	T	-0.364647	0.03874	T	-0.761566	0.03056	T	0.472253292798996	0.31613	T	.	.	.	0.035863034	0.04304	0.048440736	0.07194	0.035863034	0.04303	0.048440736	0.07193	-4.19	0.26607	T	.	.	0.087	0.11317	B	.	.	-0.236831	0.02908	0.420	0.60687808817287325	0.06524	0.00049	0.00384	N	AEFI	0.023028	0.01229	N	-1.55887154151576	0.01484	0.06475221	-1.76960007506711	0.00862	0.03850489	6.95773214814763E-5	0.04366	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-1.609000	0.02169	.	.	-1.067000	0.01603	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5547:0.0:0.4453:0.0	6.337	0.20509	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.275	5860.81	73	chr19	54752511	.	G	A	5860.81	.	AC=11;AF=0.275;AN=40;BaseQRankSum=4.75;DP=3070;ExcessHet=0.4926;FS=36.779;InbreedingCoeff=0.1222;MLEAC=11;MLEAF=0.275;MQ=57.65;MQRankSum=-1.666e+01;QD=2.73;ReadPosRankSum=-1.190e-01;SOR=4.105	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,19:19:57:1|1:54752511_G_A:850,57,0:54752511	11	2	7	1
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	10320.24	37	chr19	54760643	.	A	G	10320.24	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.066e+00;DP=4116;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4489;MLEAC=13;MLEAF=0.310;MQ=53.53;MQRankSum=-6.940e+00;QD=3.09;ReadPosRankSum=-1.857e+00;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:196,27:223:99:0|1:54760643_A_G:544,0,8034:54760643	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|1:198,31:229:99:0|1:54760643_A_G:706,0,8207:54760643	8	0	13	0
chr19	54760659	54760659	G	A	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	417	909	196	0	0	196	0.0973188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs57865271	1.259e-05	2.057e-05	1.532e-05	9.832e-06	3.033e-05	7.87e-06	6.49e-06	3.9e-06	2.82e-06	3.033e-05	2.283e-05	0	0	0	0	8.284e-06	0.0001	1.176e-05	4.775e-05	8.644e-05	3.992e-05	5.599e-05	0.0003	2.182e-05	1.574e-05	9.529e-05	5.69e-05	2.488e-05	0	0.0003	0	0	0	0	3.045e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.119	5323.44	37	chr19	54760659	.	G	A	5323.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-3.612e+00;DP=4063;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=53.72;MQRankSum=-6.027e+00;QD=3.24;ReadPosRankSum=-3.710e-01;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,34:226:99:0|1:54760643_A_G:850,0,7960:54760643	16	0	5	0
chr19	54760665	54760665	T	C	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	418	625	479	0	0	479	0.277039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162810689	1.118e-05	5.691e-05	8.35e-06	1.404e-05	0.0002	6.62e-06	5.36e-06	0.0001	8.77e-05	0	2.281e-05	0	0	0	0	0	0	0.0002	0	7.312e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	14816.48	37	chr19	54760665	.	T	C	14816.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.128e+00;DP=4120;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=54.82;MQRankSum=-8.959e+00;QD=3.99;ReadPosRankSum=1.59;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,34:220:99:0|1:54760643_A_G:868,0,7708:54760643	7	0	14	0
chr19	54760676	54760676	T	A	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	427	600	495	0	0	495	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252325157	1.398e-05	8.023e-05	9.746e-06	1.826e-05	0.0002	9.13e-06	7.42e-06	0.0001	0.0001	0	2.283e-05	0	0	0	0	0	1.692e-05	0.0002	0	7.986e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15285.48	37	chr19	54760676	.	T	A	15285.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.658e+00;DP=4024;ExcessHet=14.4320;FS=0.732;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=55.58;MQRankSum=-9.713e+00;QD=4.21;ReadPosRankSum=2.84;SOR=0.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,34:214:99:0|1:54760643_A_G:886,0,7456:54760643	7	0	14	0
chr19	54760692	54760692	A	G	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	419	580	521	2	0	525	0.311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411892976	4.767e-05	0.0002	3.349e-05	6.197e-05	0.0006	3.82e-05	3.496e-05	0.0004	0.0004	0	2.29e-05	0	0	0	0.0002	1.384e-05	6.786e-05	0.0006	0	9.992e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15714.52	37	chr19	54760692	.	A	G	15714.52	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.369e+00;DP=3836;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5003;MLEAC=14;MLEAF=0.333;MQ=56.22;MQRankSum=-1.158e+01;QD=4.47;ReadPosRankSum=4.04;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,34:207:99:0|1:54760643_A_G:907,0,7139:54760643	7	0	14	0
chr19	54760695	54760695	T	C	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	420	579	521	2	0	525	0.311943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406047822	3.998e-05	0.0001	2.094e-05	5.918e-05	0.0006	3.124e-05	2.853e-05	0.0005	0.0004	0	2.291e-05	0	0	0	0	0	5.092e-05	0.0006	0	9.996e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15927.52	37	chr19	54760695	.	T	C	15927.52	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.378e+00;DP=3798;ExcessHet=14.4320;FS=0.728;InbreedingCoeff=-0.5003;MLEAC=14;MLEAF=0.333;MQ=56.26;MQRankSum=-1.138e+01;QD=4.62;ReadPosRankSum=4.12;SOR=0.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,34:207:99:0|1:54760643_A_G:907,0,7099:54760643	7	0	14	0
chr19	54767353	54767353	A	0	exonic	KIR2DL1;LOC112267881	.	.	.	.	.	444	526	404	111	37	663	0.373063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	59730.09	38	chr19	54767353	.	A	C,*	59730.09	.	AC=13,2;AF=0.310,0.048;AN=42;BaseQRankSum=-1.860e+00;DP=4843;ExcessHet=0.1361;FS=0.529;InbreedingCoeff=0.2741;MLEAC=13,2;MLEAF=0.310,0.048;MQ=58.91;MQRankSum=0.00;QD=14.36;ReadPosRankSum=0.166;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,258,19:277:39:.:.:7702,777,0,7635,39,10857	10	4	5	0
chr19	54775258	54775258	A	T	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A464T:p.Y155F	.	.	413	1094	15	0	0	15	0.0068089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.005	B	0.011	B	.	.	1.000	N	-0.285	N	2.1	T	-0.973	T	0.017	T	0.253	-2.568	0.003	-2.21	-0.948	-0.354	1.999	0.012	0.000485302517296	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403622068	0	8.233e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.14996	T	1.0	0.01155	T	0.005	0.12996	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	2.1	0.19990	T	1.24	0.01037	N	0.071	0.06720	-0.9729	0.36583	T	0.017	0.06759	T	9	0.03911847	0.02379	T	4.85E-4	0.00133	T	0.012	0.01476	0.482	0.56302	0.112648838833	0.10856	0.020301396716153615	0.01983	0.920550017077	0.71431	0.410283654928	0.26495	T	0.001332	0.00808	T	-0.28797	0.09841	T	-0.651426	0.08854	T	0.0829859076827499	0.10364	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.14706	B	.;.	.;.	-0.303199	0.02603	0.323	0.33138870032821505	0.01958	0.00038	0.00324	N	AEFBI	0.017241	0.00439	N	-1.85737701345998	0.00419	0.01803751	-1.91465860294619	0.00458	0.02026758	5.1668644097163E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-2.21	0.06581	-0.472000	0.06702	.	.	-0.596000	0.04633	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.3016:0.0:0.296:0.4023	1.999	0.03252	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	715.33	393	chr19	54775258	.	A	T	715.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.450;DP=6998;ExcessHet=0.0000;FS=7.011;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=57.79;MQRankSum=-1.473e+01;QD=2.78;ReadPosRankSum=-3.407e+00;SOR=1.270	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:223,34:257:99:0|1:54775248_C_A:729,0,9199:54775248	19	0	1	1
chr19	54775282	54775282	A	-	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	frameshift deletion	LOC112267881:NM_001368251:exon4:c.488delA:p.E163fs	.	.	419	1064	39	0	0	39	0.0179972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1104.94	393	chr19	54775281	.	GA	G	1104.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.465e+00;DP=7013;ExcessHet=0.0000;FS=8.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.54;MQRankSum=-1.304e+01;QD=4.08;ReadPosRankSum=-7.670e-01;SOR=1.350	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:228,43:271:99:0|1:54775281_GA_G:1119,0,9281:54775281	20	0	1	0
chr19	54775288	54775288	-	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	frameshift insertion	LOC112267881:NM_001368251:exon4:c.495dupG:p.E165fs	.	.	421	1059	42	0	0	42	0.0194444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1111.68	393	chr19	54775288	.	A	AG	1111.68	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.770e-01;DP=7127;ExcessHet=0.0000;FS=10.128;InbreedingCoeff=-0.0500;MLEAC=1;MLEAF=0.026;MQ=57.53;MQRankSum=-1.313e+01;QD=4.13;ReadPosRankSum=1.06;SOR=1.402	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:226,43:269:99:0|1:54775281_GA_G:1125,0,9228:54775281	18	0	1	2
chr19	54775300	54775300	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G506C:p.R169P	.	.	418	1060	44	0	0	44	0.0203327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.008	B	0.016	B	.	.	1.000	N	0.255	N	2.08	T	-1.014	T	0.022	T	0.318	-0.304	2.551	-2.21	-2.317	-0.676	0.428	0.034	0.000533817443437	.	.	9.182e-06	0	0	0	0	1.664e-05	0	0	6.5e-06	1	154602	rs377404034	2.07e-06	2.746e-06	2.746e-06	1.387e-06	2.723e-06	5.5e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.723e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.50676	D	0.244	0.24123	T	0.008	0.14655	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	.	.	.	2.08	0.20255	T	-1.07	0.28703	N	0.109	0.09490	-1.0143	0.25561	T	0.022	0.09421	T	9	0.07263684	0.10869	T	5.34E-4	0.00185	T	0.034	0.08419	0.471	0.54537	0.255777322467	0.25185	0.12622002758448372	0.12548	1.08736435357	0.77331	0.269752025604	0.06108	T	0.009314	0.08490	T	-0.266831	0.12114	T	-0.62106	0.11103	T	0.0555891335135268	0.06456	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.43909	B	.;.	.;.	-0.151872	0.03345	0.590	0.78658180529256316	0.12396	0.00141	0.00861	N	AEFBI	0.041804	0.06403	N	-1.7447477935692	0.00695	0.02999557	-1.85797119578351	0.00591	0.02624484	1.18491246197326E-4	0.05269	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-2.21	0.06581	-2.190000	0.01332	.	.	-0.551000	0.04898	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2:0.3202:0.2042:0.2755	0.428	0.00435	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|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	0.02632	1003.72	393	chr19	54775300	.	G	C	1003.72	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.600e-02;DP=7077;ExcessHet=0.0000;FS=10.292;InbreedingCoeff=-0.0500;MLEAC=1;MLEAF=0.026;MQ=57.38;MQRankSum=-1.277e+01;QD=3.97;ReadPosRankSum=3.12;SOR=1.264	GT:AD:DP:GQ:PL	0/1:210,43:253:99:1017,0,5517	18	0	1	2
chr19	54775321	54775321	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A527G:p.K176R	.	.	422	828	43	0	229	272	0.025309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.001	B	.	.	1.000	N	-0.105	N	1.98	T	-1.002	T	0.021	T	0.246	-0.452	1.906	-0.528	0.045	0.507	3.540	0.018	.	.	0.0285543	.	.	.	.	.	.	.	.	0.0054941	143	26028	rs551912555	8.066e-07	3.135e-06	0	1.627e-06	1.358e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.358e-05	0	9.404e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.991	0.02359	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.98	0.21865	T	-0.69	0.19933	N	0.037	0.01135	-1.0019	0.29372	T	0.021	0.09101	T	9	0.004271269	0.00086	T	.	.	.	0.018	0.03083	.	.	0.159798565429	0.15598	0.019697881130799132	0.01922	0.286032070692	0.31010	0.328735619783	0.14742	T	0.004251	0.03660	T	-0.268425	0.11932	T	-0.62335	0.10925	T	0.097581160795981	0.12089	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04159	B	.;.	.;.	0.196263	0.05818	2.258	0.65962790167702579	0.07922	0.00008	0.00134	N	AEFBI	0.015820	0.00321	N	-1.50332710389849	0.01828	0.08013823	-1.56523357978012	0.01873	0.08537886	1.69642889776649E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.528	0.11310	0.180000	0.16672	.	.	-1.221000	0.01338	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2906:0.0:0.7094:0.0	3.540	0.07364	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1667	1345.52	392	chr19	54775321	.	A	G,*	1345.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-5.880e-01;DP=7788;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.42;MQRankSum=-5.177e+00;QD=0.44;ReadPosRankSum=-1.405e+00;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,47,0:251:99:0|1:54775315_G_T:1359,0,8424,1974,8566,10539:54775315	14	0	1	0
chr19	54775321	54775321	A	0	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	.	.	.	.	422	828	43	0	229	272	0.025309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1345.52	392	chr19	54775321	.	A	G,*	1345.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-5.880e-01;DP=7788;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.42;MQRankSum=-5.177e+00;QD=0.44;ReadPosRankSum=-1.405e+00;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,47,0:251:99:0|1:54775315_G_T:1359,0,8424,1974,8566,10539:54775315	14	0	1	0
chr19	54775322	54775322	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G528C:p.K176N	.	.	422	827	45	0	228	273	0.0264862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.375	B	0.035	B	.	.	1.000	N	1.405	L	1.96	T	-1.032	T	0.034	T	0.215	0.284	5.538	-0.175	0.019	-1.768	4.925	0.019	.	.	0.0201677	.	.	.	.	.	.	.	.	0.0038804	101	26028	rs142432377	2.414e-06	7.05e-06	0	4.87e-06	4.068e-05	6.4e-07	1.8e-07	1.08e-05	5e-06	0	0	0	0	0	0	0	0	4.068e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.226	0.26467	T	0.375	0.34209	B	0.035	0.22741	B	.	.	.	.	1	0.08975	N	.	.	.	1.96	0.22270	T	-0.52	0.16187	N	0.087	0.12484	-1.0322	0.19745	T	0.034	0.14509	T	9	0.004861355	0.00104	T	.	.	.	0.019	0.03383	0.372	0.38340	0.227934060464	0.22382	0.025502537409497105	0.02501	0.404161105383	0.41326	0.335895627737	0.15823	T	0.004204	0.03611	T	-0.284357	0.10210	T	-0.646235	0.09220	T	0.0611866430199818	0.07353	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.42052	B	.;.	.;.	-0.534999	0.01758	0.133	0.94203204982077993	0.24439	0.00039	0.00329	N	AEFBI	0.018778	0.00597	N	-1.06418851789445	0.07312	0.3392801	-1.222503267997	0.05550	0.2647508	1.6514964015941E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.175	0.12662	-4.523000	0.00254	.	.	-2.710000	0.00207	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5946:0.4054:0.0	4.925	0.13239	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1667	1387.52	392	chr19	54775322	.	G	C,*	1387.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-6.000e-02;DP=7783;ExcessHet=2.5830;FS=0.681;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.43;MQRankSum=-5.198e+00;QD=0.45;ReadPosRankSum=-1.555e+00;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,48,0:252:99:0|1:54775315_G_T:1401,0,8421,2016,8566,10581:54775315	14	0	1	0
chr19	54775322	54775322	G	0	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	.	.	.	.	422	827	45	0	228	273	0.0264862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1387.52	392	chr19	54775322	.	G	C,*	1387.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-6.000e-02;DP=7783;ExcessHet=2.5830;FS=0.681;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.43;MQRankSum=-5.198e+00;QD=0.45;ReadPosRankSum=-1.555e+00;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,48,0:252:99:0|1:54775315_G_T:1401,0,8421,2016,8566,10581:54775315	14	0	1	0
chr19	54775326	54775326	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A532G:p.N178D	.	.	422	1064	36	0	0	36	0.0166359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.003	B	0.007	B	.	.	1.000	N	0.785	N	1.89	T	-1.012	T	0.038	T	0.254	0.383	6.079	0.929	0.661	-1.246	4.103	0.017	0.000681058510757	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215468336	6.977e-07	6.902e-07	0	1.402e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.444	0.13177	T	0.003	0.11197	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	.	.	.	1.89	0.23688	T	-2.9	0.61580	D	0.082	0.05799	-1.0121	0.26259	T	0.038	0.16376	T	9	0.12823194	0.24391	T	6.81E-4	0.00400	T	0.017	0.02790	0.601	0.73226	0.274366138417	0.27033	0.013315020428090234	0.01289	0.358671969282	0.37580	0.3478320539	0.17603	T	0.011679	0.10383	T	-0.256694	0.13289	T	-0.606499	0.12271	T	0.06326756290711	0.07672	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.22644	B	.;.	.;.	0.069814	0.04784	1.399	0.87986939868078262	0.17631	0.00176	0.01036	N	AEFBI	0.030299	0.03023	N	-1.1105273196534	0.06455	0.2971903	-1.21311527541954	0.05699	0.2722578	2.47110482199817E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.929	0.929	0.18575	-1.728000	0.01958	.	.	-1.371000	0.01170	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	4.103	0.09495	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	0.02381	1392.98	342	chr19	54775326	.	A	G	1392.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.885e+00;DP=7557;ExcessHet=0.0000;FS=8.300;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.06;MQRankSum=-1.153e+01;QD=5.57;ReadPosRankSum=3.14;SOR=1.122	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:202,48:250:99:0|1:54775315_G_T:1407,0,8303:54775315	20	0	1	0
chr19	54775384	54775384	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G590C:p.R197T	.	.	426	1039	57	0	0	57	0.0266979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.959	D	0.689	P	.	.	1.000	N	2.66	M	2.31	T	-1.055	T	0.076	T	0.555	0.710	7.782	1.1	0.924	0.449	5.593	0.078	0.000894665299984	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs371438548	0.0004	0.0008	0.0005	0.0004	0.0162	0.0004	0.0004	0.0150	0.0146	0.0162	0.0007	0	2.525e-05	0	0.0004	1.56e-05	0.0006	3.515e-05	0.0056	0.0078	0.0061	0.0051	0.0197	0.0053	0.0052	0.0185	0.0181	0.0197	0	0.0020	0	0	0	0	3.027e-05	0.0034	0	0.003	0.68238	D	0.008	0.69154	D	0.912	0.50421	P	0.292	0.40739	B	.	.	.	.	1	0.18612	N	.	.	.	2.31	0.16794	T	-4.38	0.77637	D	0.364	0.43126	-1.0551	0.13013	T	0.076	0.30397	T	9	0.08121961	0.13272	T	8.95E-4	0.00822	T	0.078	0.22779	0.728	0.86198	0.518697010188	0.51514	0.2688665995209388	0.26799	0.495754958489	0.48109	0.335689872503	0.15792	T	0.102698	0.41067	T	-0.153878	0.27706	T	-0.458811	0.26729	T	0.309333021477853	0.25387	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.38640	B	.;.	.;.	1.943256	0.24685	16.49	0.78307117121168801	0.12244	0.01494	0.04957	N	AEFBI	0.038374	0.05420	N	-0.37991661132699	0.26186	1.427204	-0.6587236976745	0.17997	0.9594499	3.25848057682871E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	1.1	0.19578	0.024000	0.13447	.	.	-0.340000	0.05703	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.0:1.0:0.0	5.593	0.16593	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	0.02381	1243.98	39	chr19	54775384	.	G	C	1243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.701e+00;DP=6311;ExcessHet=0.0000;FS=18.959;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.89;MQRankSum=-1.038e+01;QD=5.18;ReadPosRankSum=-7.460e-01;SOR=1.018	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,46:240:99:0|1:54775384_G_C:1258,0,8008:54775384	20	0	1	0
chr19	54775392	54775392	G	A	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G598A:p.G200S	.	.	425	1048	49	0	0	49	0.0228438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.912	D	.	.	1.000	N	1.535	L	5.68	T	-0.880	T	0.002	T	0.196	2.174	13.23	-0.055	0.043	-0.064	3.457	0.057	.	0.0070	0.00638978	0.0019	0.0216	0.0007	0	0	6.211e-05	0	0.0001	0.001727	267	154602	rs111277046	0.0006	0.0007	0.0007	0.0005	0.0207	0.0006	0.0006	0.0195	0.0189	0.0207	0.0008	0	0	0	0.0007	6.239e-05	0.0010	0.0002	0.0054	0.0056	0.0057	0.0051	0.0187	0.0051	0.0050	0.0176	0.0171	0.0187	0	0.0018	0	0	0	0	0.0001	0.0024	0.0004	0.001	0.78490	D	0.217	0.28860	T	0.999	0.77913	D	0.912	0.64797	D	.	.	.	.	1	0.08975	N	.	.	.	5.68	0.00759	T	-4.8	0.81187	D	0.152	0.17002	-0.8802	0.49746	T	0.002	0.00769	T	9	0.0055010617	0.00121	T	.	.	.	0.057	0.16321	.	.	0.310458034454	0.30648	0.19989379502801208	0.19906	1.04360297355	0.75885	0.300670742989	0.10500	T	0.045065	0.27007	T	-0.5975	0.00151	T	-0.61279	0.11760	T	0.0457227073311307	0.04733	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.48008	B	.;.	.;.	2.460036	0.31693	18.82	0.9847287461623232	0.41884	0.00273	0.01482	N	AEFBI	0.035321	0.04525	N	-0.747881428606765	0.14690	0.7339538	-0.97225822960036	0.10410	0.524182	1.6460515239701E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.0552	0.13141	0.061000	0.14242	.	.	0.478000	0.22058	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2948:0.0:0.7052:0.0	3.457	0.07086	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1126.98	39	chr19	54775392	.	G	A	1126.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=6307;ExcessHet=0.0000;FS=13.199;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.78;MQRankSum=-4.275e+00;QD=4.82;ReadPosRankSum=0.266;SOR=0.934	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,41:234:99:0|1:54775384_G_C:1141,0,7981:54775384	20	0	1	0
chr19	54775398	54775398	T	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.T604C:p.F202L	.	.	426	1039	57	0	0	57	0.0266979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.495	P	0.06	B	.	.	1.000	N	1.195	L	5.85	T	-0.905	T	0.002	T	0.501	0.892	8.622	-0.17	-0.101	-0.056	3.035	0.101	0.00100448710875	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796519937	1.393e-06	3.111e-05	1.387e-06	1.4e-06	2.27e-05	2.3e-07	9e-08	.	.	0	2.27e-05	0	0	0	0	0	1.684e-05	0	6.752e-06	1.998e-05	1.317e-05	0	6.802e-05	0	0	.	.	0	0	6.802e-05	0	0	0	0	0	0	0	0.001	0.78490	D	0.373	0.17064	T	0.296	0.32457	B	0.03	0.21741	B	.	.	.	.	1	0.08975	N	.	.	.	5.85	0.00643	T	-3.67	0.70793	D	0.052	0.03392	-0.9051	0.47435	T	0.002	0.00707	T	9	0.1291396	0.24569	T	0.001004	0.01073	T	0.101	0.28911	0.61	0.74300	0.143124449307	0.13826	0.09827000553292622	0.09757	0.666767740789	0.59216	0.413420438766	0.26930	T	0.014801	0.12535	T	-0.18997	0.22262	T	-0.510655	0.21248	T	0.129981735902841	0.15380	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.770	0.80517	P	.;.	.;.	0.851745	0.12237	8.783	0.86419233700547171	0.16523	0.00346	0.01789	N	AEFBI	0.031805	0.03473	N	-0.98016430785819	0.09027	0.4256011	-1.14646743373112	0.06831	0.3301903	1.66287446658842E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.17	0.12681	-0.343000	0.07838	.	.	0.472000	0.21952	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3925:0.0:0.0:0.6075	3.035	0.05751	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	0.02381	982.98	39	chr19	54775398	.	T	C	982.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.994;DP=6297;ExcessHet=0.0000;FS=15.760;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.74;MQRankSum=-4.332e+00;QD=4.43;ReadPosRankSum=0.847;SOR=0.973	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,37:222:99:0|1:54775384_G_C:997,0,7657:54775384	20	0	1	0
chr19	54775425	54775425	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A631G:p.K211E	.	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.002	B	.	.	1.000	N	0.49	N	5.87	T	-0.847	T	0.002	T	0.263	-1.490	0.017	-2.21	-4.826	-0.493	2.064	0.059	0.000592734597817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160831907	0	1.383e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.554	0.09298	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	5.87	0.00635	T	1.39	0.00857	N	0.07	0.05037	-0.8467	0.52195	T	0.002	0.00615	T	9	0.028063536	0.00943	T	5.93E-4	0.00260	T	0.059	0.16972	0.323	0.30387	0.16115917748	0.15686	0.029241745084215797	0.02873	2.21200435668	0.95776	0.31968459487	0.13373	T	4.12E-4	0.00135	T	-0.28523	0.10121	T	-0.647489	0.09131	T	0.0937598886220576	0.11657	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.11414	B	.;.	.;.	0.318454	0.06933	3.475	0.20862290473268763	0.00769	0.00019	0.00214	N	AEFBI	0.018778	0.00597	N	-2.32359019538145	0.00040	0.001725136	-2.43884286613337	0.00032	0.001406827	0.936798265882266	0.27269	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-2.21	0.06581	-0.210000	0.09349	.	.	-1.332000	0.01214	0.006000	0.17386	0.000000	0.08366	0.000000	0.00833	0.1649:0.2413:0.4377:0.1561	2.064	0.03380	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	1586.96	39	chr19	54775425	.	A	G	1586.96	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.62;DP=5430;ExcessHet=0.6776;FS=5.399;InbreedingCoeff=-0.1039;MLEAC=4;MLEAF=0.095;MQ=56.79;MQRankSum=-9.969e+00;QD=0.97;ReadPosRankSum=0.585;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,40:216:99:0|1:54775384_G_C:1150,0,7270:54775384	17	0	4	0
chr19	54775427	54775427	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G633C:p.K211N	.	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-0.46	N	5.73	T	-0.937	T	0.001	T	0.203	-1.489	0.017	-6.75E-4	-0.370	-0.102	2.428	0.014	0.001147116708	.	.	8.585e-06	0.0001	0	0	0	0	0	0	.	.	.	rs753170536	2.16e-05	0.0002	1.941e-05	2.38e-05	4.687e-05	1.548e-05	1.349e-05	1.594e-05	1.051e-05	3.01e-05	4.543e-05	0	0	1.904e-05	0	1.927e-05	3.37e-05	4.687e-05	3.365e-05	0.0001	5.26e-05	1.378e-05	9.802e-05	1.284e-05	8.15e-06	3.284e-05	1.938e-05	9.802e-05	0	0	0	0	0	0	1.511e-05	0	0	1.0	0.00964	T	0.573	0.08715	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.73	0.00718	T	1.38	0.00857	N	0.059	0.04426	-0.9366	0.43149	T	0.001	0.00378	T	9	0.023357421	0.00609	T	0.001147	0.01434	T	0.014	0.01968	0.35	0.34760	0.12205267543	0.11705	0.03264276369458457	0.03212	1.93871876743	0.93220	0.327257335186	0.14520	T	0.001399	0.00865	T	-0.474619	0.00796	T	-0.734262	0.04137	T	0.0274483388068723	0.01609	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.08754	B	.;.	.;.	0.327897	0.07020	3.580	0.21825878329223575	0.00850	0.00013	0.00170	N	AEFBI	0.013717	0.00192	N	-1.7759001691404	0.00606	0.0261499	-1.79421127190689	0.00778	0.03469607	1.85822177357133E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-6.75E-4	0.13359	-0.508000	0.06426	.	.	-1.225000	0.01333	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4246:0.3291:0.2463	2.428	0.04193	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	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	0.09524	1828.11	39	chr19	54775427	.	G	C	1828.11	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.30;DP=5424;ExcessHet=0.6776;FS=7.082;InbreedingCoeff=-0.1085;MLEAC=4;MLEAF=0.095;MQ=56.78;MQRankSum=-1.042e+01;QD=1.12;ReadPosRankSum=0.317;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,41:217:99:0|1:54775384_G_C:1179,0,7267:54775384	17	0	4	0
chr19	54775428	54775428	T	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.T634C:p.S212P	.	.	426	994	102	0	0	102	0.0488038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.002	B	0.0	B	.	.	1.000	N	-1.22	N	5.92	T	-0.954	T	0.001	T	0.297	-2.721	0	-0.052	-0.373	-0.293	5.420	0.041	0.00119730649929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219946054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.693	0.04643	T	1.0	0.01155	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.92	0.00621	T	4.32	0.00042	N	0.054	0.03841	-0.9543	0.40221	T	0.001	0.00318	T	9	0.048239112	0.04248	T	0.001197	0.01558	T	0.041	0.10877	0.381	0.39807	0.124217242631	0.12060	0.09862332896415132	0.09793	3.5385108973	0.99787	0.337671220303	0.16090	T	0.020959	0.16408	T	-0.296781	0.08966	T	-0.664082	0.07993	T	0.037209109262974	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00234	B	.;.	.;.	-0.377649	0.02298	0.242	0.20061086774987852	0.00705	0.00014	0.00181	N	AEFBI	0.017768	0.00489	N	-2.16889315936069	0.00090	0.003848594	-2.13850442775353	0.00153	0.006750525	1.85327816143771E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.0517	0.13155	0.152000	0.16120	.	.	-2.805000	0.00184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7488:0.0:0.2512	5.420	0.15691	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	1833.97	39	chr19	54775428	.	T	C	1833.97	.	AC=4;AF=0.095;AN=42;BaseQRankSum=3.00;DP=5430;ExcessHet=0.6776;FS=7.082;InbreedingCoeff=-0.1062;MLEAC=4;MLEAF=0.095;MQ=56.76;MQRankSum=-1.055e+01;QD=1.12;ReadPosRankSum=0.195;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,41:216:99:0|1:54775384_G_C:1175,0,7225:54775384	17	0	4	0
chr19	54804865	54804865	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G149T:p.R50L	.	.	399	1022	98	3	0	104	0.0484171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.018	B	0.055	B	0.007	U	1.000	N	0.995	L	2.62	T	-0.999	T	0.029	T	0.188	0.031	4.173	-2.81	-1.080	-0.485	5.745	0.028	0.0010606096064	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs377230503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.578e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.129	0.26852	T	0.099	0.43344	T	0.001	0.17573	B	0.009	0.25828	B	0.006549	0.01130	U	4.963860	1	0.08975	N	0.87	0.21467	L	2.62	0.12988	T	-3.67	0.70553	D	0.243	0.32259	-0.9992	0.30143	T	0.029	0.12453	T	10	0.2224595	0.38999	T	0.001061	0.01215	T	0.028	0.06331	.	.	0.110392049598	0.10638	0.28005680441547837	0.27918	1.86795582778	0.92482	.	.	.	.	.	.	-0.326378	0.06390	T	-0.706596	0.05473	T	0.0639145414373501	0.07769	T	.	.	.	.	.	.	.	.	.	.	.	-8.044	0.61370	D	.	.	0.138	0.32756	B	.;.;.;.	.;.;.;.	0.035535	0.04534	1.227	0.73877348709050461	0.10488	0.00388	0.01954	N	AEFDBI	0.065265	0.12721	N	-1.54790257383302	0.01547	0.06756762	-1.67935926748713	0.01231	0.05548239	8.43516041031511E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.41	-2.81	0.05459	-0.685000	0.05269	.	.	-3.641000	0.00069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6012:0.0:0.3988:0.0	5.745	0.17382	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	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	0.1429	719.03	37	chr19	54804865	.	G	T	719.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=2.45;DP=1630;ExcessHet=1.7912;FS=7.115;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=58.85;MQRankSum=-1.237e+01;QD=0.67;ReadPosRankSum=1.33;SOR=1.603	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:211,16:227:37:0|1:54804844_A_G:37,0,8812:54804844	15	0	6	0
chr19	54804871	54804871	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A155G:p.H52R	.	.	410	1016	93	3	0	99	0.0464571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.016	B	0.014	B	.	.	1.000	N	-0.165	N	2.75	T	-0.922	T	0.011	T	0.325	-2.184	0.005	1.42	0.897	-0.253	4.935	0.050	0.000703869014878	.	.	.	.	.	.	.	.	.	.	.	.	.	rs752329065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.992	0.03949	T	0.621	0.07419	T	0.003	0.12996	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.17	0.09006	N	2.75	0.11622	T	-3.37	0.67477	D	0.076	0.06059	-0.9219	0.45293	T	0.011	0.04321	T	9	0.061050594	0.07594	T	7.04E-4	0.00435	T	0.050	0.13987	.	.	0.305252298933	0.30134	0.14574877287000448	0.14497	1.80914359211	0.91782	.	.	.	.	.	.	-0.282495	0.10405	T	-0.643561	0.09412	T	0.0325404564850766	0.02395	T	.	.	.	.	.	.	.	.	.	.	.	-6.886	0.53196	T	.	.	0.100	0.18746	B	.;.;.;.	.;.;.;.	0.039253	0.04558	1.245	0.55635480641941515	0.05383	0.00516	0.02410	N	AEFDBI	0.041908	0.06434	N	-1.27066159650474	0.04033	0.1813008	-1.2984096394167	0.04452	0.2100502	3.65028250344946E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.504000	0.06456	.	.	-0.282000	0.06404	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0:0.0:0.0:0.0	4.935	0.13288	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	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	0.1429	605.02	37	chr19	54804871	.	A	G	605.02	.	AC=6;AF=0.143;AN=42;BaseQRankSum=0.129;DP=1668;ExcessHet=1.7912;FS=5.545;InbreedingCoeff=-0.1665;MLEAC=6;MLEAF=0.143;MQ=58.89;MQRankSum=-1.263e+01;QD=0.54;ReadPosRankSum=1.81;SOR=1.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:214,16:230:28:0|1:54804844_A_G:28,0,8938:54804844	15	0	6	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|2:220,0,16:236:10:0|1:54804844_A_G:10,672,9910,0,9238,9190:54804844	8	1	9	0
chr19	54804898	54804898	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C182G:p.T61R	.	.	407	1007	105	3	0	111	0.0522353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.879	P	0.624	P	0.370	N	1.000	N	0.82	L	2.61	T	-1.047	T	0.034	T	0.121	-1.268	0.045	-2.83	-2.561	-4.420	4.699	0.004	0.000577800184532	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347429978	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.156	0.30235	T	0.417	0.14241	T	0.008	0.14655	B	0.014	0.16862	B	0.370126	0.04357	N	1.761550	1	0.08975	N	0.19	0.09125	N	2.61	0.13095	T	-0.99	0.33798	N	0.166	0.17553	-1.0466	0.15361	T	0.034	0.14726	T	10	0.06646973	0.09122	T	5.78E-4	0.00246	T	0.004	0.00165	.	.	0.123314135267	0.11883	0.2663305671272793	0.26546	1.74321032565	0.90897	.	.	.	.	.	.	-0.374164	0.03389	T	-0.775237	0.02600	T	0.172755304063972	0.18765	T	.	.	.	.	.	.	.	.	.	.	.	-4.633	0.32583	T	.	.	0.133	0.28807	B	.;.;.;.	.;.;.;.	-1.551279	0.00265	0.004	0.59469541163751893	0.06232	0.00075	0.00520	N	AEFDBI	0.026301	0.01950	N	-1.68316153543223	0.00903	0.03908699	-1.84995237698743	0.00612	0.0271986	3.44450744240821E-4	0.06626	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-5.169000	0.00171	.	.	-4.106000	0.00042	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2563:0.3734:0.3703:0.0	4.699	0.12201	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	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	0.1429	783.55	37	chr19	54804898	.	C	G	783.55	.	AC=6;AF=0.143;AN=42;BaseQRankSum=2.74;DP=2825;ExcessHet=1.7912;FS=7.378;InbreedingCoeff=-0.1525;MLEAC=5;MLEAF=0.119;MQ=58.83;MQRankSum=-1.325e+01;QD=0.63;ReadPosRankSum=3.30;SOR=1.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:239,20:259:99:0|1:54804844_A_G:120,0,9975:54804844	15	0	6	0
chr19	54804909	54804909	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A193G:p.K65E	.	.	408	993	118	3	0	124	0.0587678	.	.	2687379	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.002	B	0.004	B	0.812	N	1.000	N	-2.29	N	6.0	T	-0.932	T	0.001	T	0.074	-2.172	0.005	-1.41	-0.207	0.049	3.979	0.028	0.000710582739585	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433721372	2.738e-06	4.105e-06	0	5.504e-06	2.237e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	2.237e-05	3.843e-05	0	0	0	1.799e-06	0	0	1.988e-05	4.605e-05	1.295e-05	2.717e-05	0.0001	5.29e-06	2.47e-06	2.279e-05	9.14e-06	0	0	0.0001	0	0	0	0	0	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.812499	0.09241	N	0.855387	1	0.08975	N	-2.415	0.00072	N	6.0	0.00603	T	1.89	0.00694	N	0.066	0.07262	-0.9319	0.43859	T	0.001	0.00188	T	10	0.020792723	0.00485	T	7.11E-4	0.00454	T	0.028	0.06331	.	.	0.102598925029	0.09809	0.08210962773506171	0.08145	2.0043789819	0.93871	.	.	.	.	.	.	-0.398459	0.02370	T	-0.810135	0.01662	T	0.0787104400289306	0.09821	T	.	.	.	.	.	.	.	.	.	.	.	1.118	0.00118	T	.	.	0.052	0.01449	B	.;.;.;.	.;.;.;.	-0.896903	0.00931	0.035	0.38092024155450582	0.02549	0.00009	0.00143	N	AEFBI	0.020365	0.00798	N	-1.95943119732616	0.00258	0.01107597	-1.91051840260318	0.00467	0.02066344	2.13546506143977E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-1.41	0.08473	0.022000	0.13402	.	.	-1.236000	0.01320	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.4688:0.0:0.5312:0.0	3.979	0.08979	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	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	0.1429	1459.03	37	chr19	54804909	.	A	G	1459.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=2.63;DP=2839;ExcessHet=1.7912;FS=11.097;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=58.65;MQRankSum=-1.377e+01;QD=1.16;ReadPosRankSum=1.42;SOR=1.896	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:243,22:265:99:0|1:54804844_A_G:192,0,10137:54804844	15	0	6	0
chr19	54804943	54804943	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G227A:p.R76K	.	.	415	972	132	3	0	138	0.0662824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.003	B	0.590	N	1.000	N	1.44	L	2.74	T	-0.969	T	0.025	T	0.171	-0.507	1.679	-2.83	-0.790	-3.738	0.540	0.022	0.000742101611331	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1258790404	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.948e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.706	0.15201	T	0.895	0.03223	T	0.0	0.02946	B	0.001	0.08700	B	0.590161	0.05587	N	1.384300	1	0.08975	N	1.445	0.36358	L	2.74	0.11730	T	-0.98	0.27259	N	0.051	0.07535	-0.9692	0.37366	T	0.025	0.10733	T	10	0.066293925	0.09070	T	7.42E-4	0.00510	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.10200965388074774	0.10131	1.54987763219	0.87883	.	.	.	.	.	.	-0.328421	0.06231	T	-0.70953	0.05319	T	0.0564412906346426	0.06597	T	.	.	.	.	.	.	.	.	.	.	.	-7.075	0.54580	T	.	.	0.117	0.27968	B	.;.;.;.	.;.;.;.	-0.709399	0.01299	0.070	0.67373079492482224	0.08335	0.00141	0.00861	N	AEFBI	0.044050	0.07041	N	-1.32507690532281	0.03391	0.1513701	-1.48749976679391	0.02446	0.1125302	6.30285219020309E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.506000	0.02375	.	.	-0.368000	0.05462	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1859:0.238:0.3354:0.2407	0.540	0.00600	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	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	0.1429	2793.02	37	chr19	54804943	.	G	A	2793.02	.	AC=6;AF=0.143;AN=42;BaseQRankSum=1.64;DP=2966;ExcessHet=1.7912;FS=4.369;InbreedingCoeff=-0.1666;MLEAC=6;MLEAF=0.143;MQ=58.46;MQRankSum=-1.419e+01;QD=2.03;ReadPosRankSum=-1.957e+00;SOR=1.396	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:257,27:284:99:0|1:54804844_A_G:360,0,10710:54804844	15	0	6	0
chr19	54804956	54804956	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C240G:p.N80K	.	.	414	957	149	2	0	153	0.0740203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.005	B	0.011	B	.	.	1.000	N	0.255	N	5.79	T	-0.943	T	0.002	T	0.052	-1.471	0.018	-2.83	-0.914	-2.611	4.378	0.003	0.000820155030123	.	.	3.423e-05	0.0003	0	0	0	0	0	0	.	.	.	rs762567496	6.845e-07	4.789e-06	1.362e-06	0	2.995e-05	0	0	.	.	2.995e-05	0	0	0	0	0	0	0	0	1.99e-05	0.0001	2.59e-05	1.36e-05	7.371e-05	5.29e-06	2.47e-06	1.954e-05	1.042e-05	7.371e-05	0	0	0	0	0	0	0	0	0	0.412	0.13699	T	0.845	0.05146	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.44	0.02835	N	5.79	0.00674	T	-1.03	0.27052	N	0.095	0.07535	-0.9430	0.42137	T	0.002	0.00556	T	9	0.044601202	0.03435	T	8.2E-4	0.00670	T	0.003	0.00094	.	.	0.128874641272	0.12493	0.10159306631719821	0.10090	1.72089044569	0.90581	.	.	.	.	.	.	-0.575811	0.00204	T	-0.864535	0.00796	T	0.016738042965368	0.00430	T	.	.	.	.	.	.	.	.	.	.	.	-3.17	0.12117	T	.	.	0.179	0.45895	B	.;.;.;.	.;.;.;.	-1.083170	0.00661	0.018	0.50719520210572711	0.04434	0.00148	0.00897	N	AEFBI	0.040604	0.06062	N	-1.66740233317036	0.00964	0.04176982	-1.76943638965084	0.00862	0.03853214	7.24329605389925E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-3.415000	0.00532	.	.	-3.993000	0.00048	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2368:0.2927:0.4706:0.0	4.378	0.10712	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	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	0.1667	3332.55	37	chr19	54804956	.	C	G	3332.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.553;DP=3253;ExcessHet=2.5830;FS=4.420;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.57;MQRankSum=-1.550e+01;QD=1.97;ReadPosRankSum=-2.461e+00;SOR=1.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:261,30:291:99:0|1:54804844_A_G:474,0,10869:54804844	14	0	7	0
chr19	54804960	54804960	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T244A:p.F82I	.	.	414	959	147	2	0	151	0.0729821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.988	D	0.749	P	.	.	1.000	N	2.795	M	5.26	T	-1.036	T	0.009	T	0.293	1.165	9.742	-2.83	-1.100	0.423	0.084	0.125	0.00121079333076	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369685826	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.131	0.27663	T	0.066	0.49942	T	0.835	0.57185	P	0.439	0.51840	B	.	.	.	.	1	0.08975	N	2.84	0.82582	M	5.26	0.01121	T	-4.07	0.74661	D	0.527	0.55626	-1.0358	0.18606	T	0.009	0.03140	T	9	0.26590294	0.44090	T	0.001211	0.01583	T	0.125	0.34456	.	.	0.184605227958	0.18053	0.26410585650973184	0.26323	2.55136621799	0.97893	.	.	.	.	.	.	-0.229695	0.16690	T	-0.567717	0.15659	T	0.301442474126816	0.25063	T	.	.	.	.	.	.	.	.	.	.	.	-10.577	0.77288	D	.	.	0.167	0.46813	B	.;.;.;.	.;.;.;.	1.636286	0.20887	14.96	0.92714287306157606	0.22209	0.01840	0.05702	N	AEFBI	0.038078	0.05336	N	-0.973329979841069	0.09176	0.4332079	-1.27610017222819	0.04756	0.2250723	8.7197982285104E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	0.236000	0.17745	.	.	-1.223000	0.01335	0.008000	0.17931	0.000000	0.08366	0.000000	0.00833	0.2444:0.1891:0.2473:0.3192	0.084	0.00031	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	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	3498.55	37	chr19	54804960	.	T	A	3498.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.890e-01;DP=3264;ExcessHet=2.5830;FS=5.763;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.64;MQRankSum=-1.493e+01;QD=2.04;ReadPosRankSum=-2.172e+00;SOR=1.354	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:265,30:295:99:0|1:54804844_A_G:462,0,11037:54804844	14	0	7	0
chr19	54804968	54804968	T	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T252G:p.I84M	.	.	417	956	147	2	0	151	0.0731944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.687	P	0.812	P	.	.	1.000	N	-0.13	N	5.18	T	-0.933	T	0.004	T	0.218	-0.371	2.254	-2.83	-2.207	-1.190	4.771	0.045	0.000519273134144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325992067	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.437	0.14400	T	0.374	0.18395	T	0.42	0.35330	B	0.45	0.46092	P	.	.	.	.	1	0.08975	N	-0.585	0.02270	N	5.18	0.01178	T	1.07	0.01509	N	0.251	0.28381	-0.9332	0.43665	T	0.004	0.01435	T	9	0.07691896	0.12074	T	5.19E-4	0.00174	T	0.045	0.12272	.	.	0.117191471859	0.11215	0.08007400719172995	0.07942	1.80411115478	0.91699	.	.	.	.	.	.	-0.337573	0.05559	T	-0.722677	0.04667	T	0.127119965554841	0.15113	T	.	.	.	.	.	.	.	.	.	.	.	-6.241	0.49275	T	.	.	0.117	0.24666	B	.;.;.;.	.;.;.;.	-0.141825	0.03399	0.614	0.65607078407769726	0.07820	0.00065	0.00468	N	AEFBI	0.020411	0.00803	N	-1.5866963148947	0.01332	0.0580352	-1.74726134577514	0.00943	0.042239	1.02835550443145E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.147000	0.03298	.	.	-3.828000	0.00057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1793:0.4034:0.4173	4.771	0.12528	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	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	3900.55	37	chr19	54804968	.	T	G	3900.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=1.04;DP=3302;ExcessHet=2.5830;FS=5.736;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.65;MQRankSum=-1.402e+01;QD=2.23;ReadPosRankSum=-2.200e+00;SOR=1.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:275,31:306:99:0|1:54804844_A_G:454,0,11378:54804844	14	0	7	0
chr19	54804969	54804969	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A253G:p.S85G	.	.	417	954	149	2	0	153	0.0742358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.004	B	.	.	1.000	N	-1.605	N	2.6	T	-0.984	T	0.007	T	0.077	-2.734	0	-2.83	-1.548	-0.075	7.112	0.027	0.000781134784742	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442335978	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.715	0.00343	N	2.6	0.13204	T	2.66	0.00310	N	0.108	0.09349	-0.9842	0.34022	T	0.007	0.02439	T	9	0.02619794	0.00792	T	7.81E-4	0.00588	T	0.027	0.05988	.	.	0.158540857583	0.15491	0.07738362904380575	0.07674	1.4201359302	0.85604	.	.	.	.	.	.	-0.401399	0.02267	T	-0.814358	0.01570	T	0.0549007298840621	0.06341	T	.	.	.	.	.	.	.	.	.	.	.	0.541	0.00210	T	.	.	0.074	0.05274	B	.;.;.;.	.;.;.;.	-0.420405	0.02138	0.205	0.22000706786361646	0.00865	0.00040	0.00335	N	AEFBI	0.020537	0.00821	N	-2.07894454137503	0.00142	0.006092453	-2.08140116520627	0.00204	0.009005726	2.05305321022085E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.375000	0.07532	.	.	-1.077000	0.01579	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4285:0.0:0.5715:0.0	7.112	0.24570	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	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	3886.55	37	chr19	54804969	.	A	G	3886.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-3.400e-01;DP=3301;ExcessHet=2.5830;FS=5.736;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.65;MQRankSum=-1.405e+01;QD=2.23;ReadPosRankSum=-2.321e+00;SOR=1.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:272,31:303:99:0|1:54804844_A_G:463,0,11252:54804844	14	0	7	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S	.	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.008	B	.	.	1.000	N	-1.335	N	5.92	T	-0.965	T	0.001	T	0.053	-2.647	0	-2.83	-1.271	-4.121	6.440	0.013	0.0010106159629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796753843	2.74e-06	0.0001	2.726e-06	2.755e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.885e-05	0	2.7e-06	0	0	5.341e-05	0.0027	7.827e-05	2.735e-05	0.0002	2.593e-05	1.856e-05	1.985e-05	1.133e-05	4.936e-05	0	6.628e-05	0	0	0	0	5.938e-05	0	0.0002	1.0	0.00964	T	0.435	0.14369	T	0.007	0.14184	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.315	0.00701	N	5.92	0.00621	T	2.62	0.00266	N	0.075	0.04913	-0.9650	0.38210	T	0.001	0.00287	T	9	0.026813924	0.00840	T	0.001011	0.01096	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.08146711258010714	0.08081	2.36001356848	0.96855	.	.	.	.	.	.	-0.43666	0.01353	T	-0.865008	0.00791	T	0.061946985667245	0.07471	T	.	.	.	.	.	.	.	.	.	.	.	1.914	0.00057	T	.	.	0.189	0.46085	B	.;.;.;.	.;.;.;.	-1.096354	0.00644	0.018	0.28837687520548816	0.01500	0.00083	0.00561	N	AEFDBI	0.025271	0.01704	N	-2.14306535979238	0.00103	0.00439903	-2.15844511365444	0.00139	0.006093682	1.25218217171751E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-6.340000	0.00086	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5038:0.0:0.4962	6.440	0.21047	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	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	8919.01	37	chr19	54805015	.	T	C	8919.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-3.270e-01;DP=3894;ExcessHet=4.7172;FS=2.661;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=59.09;MQRankSum=-1.185e+01;QD=3.49;ReadPosRankSum=0.485;SOR=1.069	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:307,41:348:99:0|1:54805010_A_G:797,0,12723:54805010	12	0	9	0
chr19	54805016	54805016	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T300A:p.F100L	.	.	420	774	327	1	0	329	0.17528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.542	P	0.333	B	.	.	1.000	N	1.725	L	5.83	T	-0.970	T	0.003	T	0.121	1.105	9.508	-2.7	-0.974	-0.428	2.255	0.023	0.000772524294317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796792356	1.37e-06	0.0001	0	2.755e-06	8.999e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.887e-05	0	8.999e-07	0	0	5.338e-05	0.0027	7.825e-05	2.733e-05	0.0002	2.592e-05	1.855e-05	1.985e-05	1.133e-05	4.936e-05	0	6.625e-05	0	0	0	0	5.936e-05	0	0.0002	0.022	0.48642	D	0.648	0.06903	T	0.397	0.34783	B	0.333	0.42166	B	.	.	.	.	1	0.08975	N	1.665	0.42610	L	5.83	0.00652	T	-1.05	0.29933	N	0.118	0.11769	-0.9697	0.37262	T	0.003	0.01059	T	9	0.07033512	0.10217	T	7.73E-4	0.00568	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.06693528354683899	0.06631	1.94744629028	0.93356	.	.	.	.	.	.	-0.343146	0.05173	T	-0.730682	0.04297	T	0.170065227283001	0.18584	T	.	.	.	.	.	.	.	.	.	.	.	-3.333	0.14166	T	.	.	0.864	0.81864	P	.;.;.;.	.;.;.;.	0.844460	0.12165	8.711	0.72763699724305153	0.10087	0.00466	0.02241	N	AEFDBI	0.041762	0.06392	N	-1.34932054137565	0.03132	0.1394129	-1.54047774464294	0.02042	0.09334472	7.01667449997308E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.7	0.05651	-1.755000	0.01913	.	.	-1.223000	0.01335	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.256:0.3803:0.0:0.3637	2.255	0.03803	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	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	8818.01	37	chr19	54805016	.	T	A	8818.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-7.130e-01;DP=3903;ExcessHet=4.7172;FS=3.895;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=59.09;MQRankSum=-1.197e+01;QD=3.42;ReadPosRankSum=0.322;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:304,41:345:99:0|1:54805010_A_G:806,0,12640:54805010	12	0	9	0
chr19	54805024	54805024	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A308G:p.H103R	.	.	423	744	354	1	0	356	0.193059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.025	B	0.014	B	0.900	U	1.000	N	1.445	L	5.78	T	-0.926	T	0.003	T	0.132	0.330	5.790	-0.942	-0.378	-0.780	4.279	0.022	0.00119188927627	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs796878779	3.426e-06	0.0002	4.09e-06	2.756e-06	1.8e-06	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	5.683e-05	0	1.8e-06	0	0	4.7e-05	0.0029	5.246e-05	4.127e-05	0.0002	2.151e-05	1.554e-05	1.981e-05	1.049e-05	7.471e-05	0	6.676e-05	0	0	0	0	2.979e-05	0	0.0002	0.057	0.37966	T	0.101	0.38596	T	0.009	0.15093	B	0.006	0.12133	B	0.900041	0.07350	U	1.083630	1	0.08975	N	1.245	0.31408	L	5.78	0.00681	T	-5.95	0.89152	D	0.045	0.09066	-0.9256	0.44772	T	0.003	0.00994	T	10	0.102012426	0.18672	T	0.001192	0.01533	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.03833865634309133	0.03779	1.81219128519	0.91816	.	.	.	.	.	.	-0.350096	0.04721	T	-0.740665	0.03863	T	0.0647783944973474	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	-4.915	0.35903	T	.	.	0.097	0.17060	B	.;.;.;.	.;.;.;.	-0.151121	0.03348	0.592	0.69629908088386028	0.09034	0.00308	0.01632	N	AEFDBI	0.034642	0.04326	N	-1.13086835408799	0.06101	0.2799287	-1.26988241760385	0.04843	0.2294386	2.01186922009763E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-0.942	0.09869	-3.960000	0.00366	.	.	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5371:0.0:0.4629:0.0	4.279	0.10270	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	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	0.2381	10370.19	37	chr19	54805024	.	A	G	10370.19	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-4.070e-01;DP=4027;ExcessHet=6.1002;FS=3.749;InbreedingCoeff=-0.2989;MLEAC=9;MLEAF=0.214;MQ=59.11;MQRankSum=-1.124e+01;QD=3.60;ReadPosRankSum=0.390;SOR=1.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:306,43:349:99:0|1:54805010_A_G:864,0,12622:54805010	11	0	10	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I	.	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.004	B	0.005	B	0.591	U	1.000	N	1.77	L	2.55	T	-0.987	T	0.033	T	0.099	-0.227	2.901	-2.28	-1.442	-2.050	6.335	0.024	0.000700822115211	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs796513163	7.541e-06	0.0002	2.728e-06	1.241e-05	2.239e-05	4.05e-06	2.96e-06	8.4e-07	5.7e-07	0	2.239e-05	3.862e-05	0	7.619e-05	0	3.601e-06	0	1.166e-05	3.338e-05	0.0029	5.221e-05	1.366e-05	0.0006	1.276e-05	8.09e-06	0.0002	9.396e-05	2.468e-05	0	0	0	0	0	0	1.485e-05	0	0.0006	0.142	0.25768	T	0.321	0.19073	T	0.003	0.11197	B	0.004	0.10090	B	0.591279	0.05593	U	1.381260	1	0.08975	N	2	0.54354	M	2.55	0.13795	T	-2.95	0.63901	D	0.118	0.10769	-0.9874	0.33249	T	0.033	0.14334	T	10	0.060203582	0.07359	T	7.01E-4	0.00435	T	0.024	0.04979	.	.	0.0675242888579	0.06100	0.04331565967951002	0.04276	1.63047291344	0.89215	.	.	.	.	.	.	-0.366031	0.03800	T	-0.763555	0.02987	T	0.0524682142329862	0.05929	T	.	.	.	.	.	.	.	.	.	.	.	-9.207	0.69223	D	.	.	0.216	0.46273	B	.;.;.;.	.;.;.;.	0.032458	0.04511	1.213	0.83014543442455713	0.14496	0.00242	0.01343	N	AEFDBI	0.041998	0.06460	N	-1.24619832928253	0.04350	0.1961546	-1.41778311686848	0.03074	0.1426955	1.1506097044956E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-2.28	0.06438	-1.970000	0.01595	.	.	-0.553000	0.04888	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6794:0.3206:0.0:0.0	6.335	0.20497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	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	0.2857	11569.11	37	chr19	54805033	.	C	T	11569.11	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.870e-01;DP=4523;ExcessHet=9.6308;FS=5.420;InbreedingCoeff=-0.4114;MLEAC=12;MLEAF=0.286;MQ=59.15;MQRankSum=-1.246e+01;QD=3.36;ReadPosRankSum=-4.370e-01;SOR=1.113	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:307,44:351:99:0|1:54805010_A_G:899,0,12405:54805010	9	0	12	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|1:272,43:315:99:0|1:54805068_A_G:956,0,11023:54805068	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|1:278,35:313:99:0|1:54805940_TCTC_T:633,0,11568:54805940	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|1:284,38:322:99:0|1:54805940_TCTC_T:741,0,11811:54805940	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|1:309,46:355:99:0|1:54805940_TCTC_T:971,0,12757:54805940	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|1:323,54:377:99:0|1:54805940_TCTC_T:1161,0,13119:54805940	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|1:379,71:450:99:0|1:54806034_C_A:1840,0,15609:54806034	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|1:379,71:450:99:0|1:54806034_C_A:1840,0,15609:54806034	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|1:406,71:477:99:0|1:54806034_C_A:1759,0,16834:54806034	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|1:430,64:494:99:0|1:54806034_C_A:1393,0,17863:54806034	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|1:424,63:487:99:0|1:54806034_C_A:1369,0,17614:54806034	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|1:432,62:494:99:0|1:54806034_C_A:1303,0,17953:54806034	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|1:439,56:495:99:0|1:54806034_C_A:1030,0,18265:54806034	6	0	15	0
chr19	54806112	54806112	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A523G:p.N175D	.	.	414	926	180	2	0	184	0.0903733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.012	B	0.024	B	0.006	U	1.000	N	0.765	N	2.53	T	-0.990	T	0.026	T	0.033	-0.167	3.186	-0.795	-0.445	-1.162	.	0.015	0.00143953544246	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs796888355	6.845e-07	4.105e-06	1.362e-06	0	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.337	0.18178	T	0.002	0.09854	B	0.007	0.12992	B	0.005772	0.01094	U	5.332710	1	0.08975	N	0.345	0.11182	N	2.53	0.14038	T	-2.93	0.61865	D	0.138	0.13626	-0.9903	0.32525	T	0.026	0.11220	T	9	0.087477654	0.14971	T	0.00144	0.02164	T	0.015	0.02232	.	.	0.220282294035	0.21616	0.006777662489737481	0.00644	1.71896696176	0.90540	.	.	.	.	.	.	-0.416589	0.01799	T	-0.836177	0.01158	T	0.0856821440474374	0.10698	T	.	.	.	.	.	.	.	.	.	.	.	-7.374	0.57236	T	.	.	0.120	0.29060	B	.;.;.;.;.;.	.;.;.;.;.;.	0.412746	0.07838	4.531	0.79727465880553572	0.12873	0.00046	0.00367	N	AEFDBI	0.025639	0.01789	N	-1.25407888021563	0.04246	0.1912621	-1.39176687369686	0.03339	0.1555523	1.44639492226876E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.795	0.10364	-0.556000	0.06082	.	.	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	9512.01	292	chr19	54806112	.	A	G	9512.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.490e-01;DP=7263;ExcessHet=4.7172;FS=5.109;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=57.76;MQRankSum=-1.587e+01;QD=2.63;ReadPosRankSum=-2.764e+00;SOR=1.228	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:434,54:488:99:0|1:54806034_C_A:961,0,18061:54806034	12	0	9	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S	.	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.006	B	0.003	B	0.046	U	1.000	N	0.13	N	7.15	T	-0.925	T	0.001	T	0.11	-1.679	0.012	-1.7	-1.068	-0.084	2.159	0.018	0.000621740094912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.39e-06	2.737e-06	0	2.789e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.144e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.21968	T	0.279	0.21745	T	0.006	0.13644	B	0.003	0.08700	B	0.046212	0.01956	U	5.272780	1	0.08975	N	0.045	0.08109	N	7.05	0.00450	T	-2.36	0.55025	N	0.061	0.06587	-0.9252	0.44829	T	0.001	0.00255	T	10	0.058746576	0.06953	T	6.22E-4	0.00303	T	0.018	0.03083	.	.	0.0675242888579	0.06100	0.02819159353811284	0.02769	1.54876453167	0.87867	.	.	.	.	.	.	-0.366904	0.03753	T	-0.764809	0.02943	T	0.114286564290524	0.13862	T	.	.	.	.	.	.	.	.	.	.	.	-4.184	0.26519	T	.	.	0.104	0.18950	B	.;.;.;.	.;.;.;.	-0.289144	0.02665	0.341	0.41441202538805488	0.02990	0.00018	0.00208	N	AEFBI	0.019551	0.00689	N	-1.61870495931056	0.01174	0.05102983	-1.71290992187964	0.01081	0.04855486	3.23883740516504E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-0.587000	0.05874	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2772:0.3273:0.3955	2.159	0.03587	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	25713.48	41	chr19	54808838	.	C	T	25713.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=3.86;DP=5771;ExcessHet=14.4320;FS=0.714;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.82;MQRankSum=-1.875e+01;QD=4.71;ReadPosRankSum=0.460;SOR=0.848	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:380,81:461:99:0|1:54808838_C_T:2257,0,15645:54808838	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	0/1:384,79:465:99:.:.:2128,0,16273	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|1:394,81:475:99:0|1:54808838_C_T:2215,0,16259:54808838	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	0/1:399,76:475:99:1994,0,11232	7	0	14	0
chr19	54847203	54847203	T	0	exonic	KIR2DS1;KIR2DS2;KIR2DS3;KIR2DS4;KIR2DS5;KIR3DS1;LOC102725023;LOC112268355	.	.	.	.	.	377	455	672	5	13	695	0.428392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	15952.71	34	chr19	54847203	.	T	C,*	15952.71	.	AC=11,6;AF=0.262,0.143;AN=42;BaseQRankSum=-1.075e+00;DP=8145;ExcessHet=25.1139;FS=1.133;InbreedingCoeff=-0.6800;MLEAC=11,6;MLEAF=0.262,0.143;MQ=59.51;MQRankSum=-4.222e+00;QD=2.08;ReadPosRankSum=-1.400e-01;SOR=0.815	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:441,113,0:554:99:.:.:1723,0,14642,3048,14981,18029	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|1:282,39:321:99:0|1:54855608_TCTC_T:789,0,11724:54855608	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|1:282,38:320:99:0|1:54855608_TCTC_T:747,0,11681:54855608	6	0	15	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R	.	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.001	B	.	.	1.000	N	-0.69	N	7.32	T	-0.976	T	0.001	T	0.094	-0.882	0.475	-0.763	-1.126	-1.523	.	0.009	0.00110318286967	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs796466301	7.457e-05	0.0011	7.798e-05	7.115e-05	0.0002	6.259e-05	5.845e-05	9.469e-05	7.503e-05	0.0001	0.0002	0.0002	5.078e-05	0	0	6.593e-05	3.482e-05	0.0002	0	3.285e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.134	0.26300	T	0.451	0.12920	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-1.04	0.01097	N	7.31	0.00423	T	0.16	0.05217	N	0.083	0.10769	-0.9760	0.35904	T	0.001	0.00188	T	8	0.04906112	0.04441	T	0.001103	0.01312	T	0.009	0.00846	0.442	0.49811	0.119812018005	0.11559	0.09452283820028774	0.09384	2.56269628182	0.97972	0.333641290665	0.15483	T	7.89E-4	0.00376	T	-0.415095	0.01840	T	-0.834032	0.01193	T	0.059155964491615	0.07034	T	.	.	.	0.106677674	0.25223	0.1821225	0.41119	0.106677674	0.25223	0.1821225	0.41119	1.528	0.00757	T	.	.	0.054	0.02639	B	.;.	.;.	-0.404554	0.02196	0.218	0.45649119719455972	0.03599	0.00039	0.00329	N	AEFBI	0.015175	0.00277	N	-1.72878488187199	0.00744	0.03215037	-1.79035493063549	0.00791	0.03527497	4.27305037267331E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.609	-0.763	0.10475	-1.665000	0.02067	.	.	-1.747000	0.00693	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	31702.71	90	chr19	54865810	.	T	C	31702.71	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-1.293e+00;DP=3755;ExcessHet=14.4320;FS=1.258;InbreedingCoeff=-0.5016;MLEAC=14;MLEAF=0.333;MQ=58.31;MQRankSum=-9.487e+00;QD=9.30;ReadPosRankSum=1.76;SOR=0.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,69:257:99:0|1:54865770_G_A:2331,0,7686:54865770	7	0	14	0
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I	.	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.259	B	0.269	B	.	.	1.000	N	0.7	N	7.31	T	-0.975	T	0.001	T	0.028	-1.590	0.014	-1.58	-0.698	-0.374	3.986	0.008	0.00055253107299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796782943	6.843e-07	1.368e-06	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.164	0.24468	T	0.419	0.14158	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	7.18	0.00448	T	-0.21	0.10656	N	0.072	0.04547	-0.9746	0.36213	T	0.001	0.00348	T	9	0.07256496	0.10849	T	5.53E-4	0.00208	T	0.008	0.00669	0.367	0.37524	0.241078983079	0.23725	0.04157770004610267	0.04102	0.0027843863192	0.00238	0.408555775881	0.26256	T	0.002608	0.01994	T	-0.428714	0.01509	T	-0.853595	0.00915	T	0.0821466851244207	0.10259	T	.	.	.	0.022919703	0.00990	0.029417474	0.01278	0.022919703	0.00989	0.029417474	0.01278	-3.748	0.20029	T	.	.	0.070	0.08033	B	.;.	.;.	-1.320914	0.00420	0.008	0.32275471755800766	0.01862	0.00127	0.00790	N	AEFBI	0.021088	0.00901	N	-1.46961496636215	0.02067	0.09089394	-1.60118741659373	0.01648	0.07480784	3.08807583727834E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.835000	0.04494	.	.	-0.482000	0.05067	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5465:0.0:0.4535:0.0	3.986	0.09005	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.35	30212.51	90	chr19	54865825	.	G	A	30212.51	.	AC=14;AF=0.350;AN=40;BaseQRankSum=0.417;DP=3951;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5273;MLEAC=14;MLEAF=0.350;MQ=58.36;MQRankSum=-1.018e+01;QD=8.39;ReadPosRankSum=2.06;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,69:268:99:0|1:54865770_G_A:2298,0,8148:54865770	6	0	14	1
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A	.	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.988	D	0.985	D	0.029	N	1.000	N	0.125	N	7.27	T	-0.917	T	0.002	T	0.051	-1.319	0.034	-1.58	-1.598	-0.458	5.878	0.065	0.000400803919065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224475740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.29823	T	0.986	0.02387	T	0.98	0.59353	D	0.966	0.71341	D	0.029014	0.01695	N	4.101880	1	0.08975	N	0.395	0.12235	N	7.27	0.00437	T	-0.92	0.24676	N	0.126	0.11912	-0.9172	0.45931	T	0.002	0.00585	T	10	0.07284033	0.10928	T	4.01E-4	0.00071	T	0.065	0.18881	0.494	0.58206	0.0297737177859	0.01360	0.06284081072503588	0.06223	0.00213134346531	0.00180	0.403696119785	0.25583	T	0.001044	0.00572	T	-0.400058	0.02313	T	-0.812432	0.01611	T	0.139050558209419	0.16193	T	.	.	.	0.031689838	0.03054	0.03537673	0.02778	0.031689838	0.03053	0.03537673	0.02778	-6.306	0.48770	T	.	.	0.101	0.17488	B	.;.	.;.	0.454312	0.08244	4.984	0.26484307624393894	0.01271	0.00052	0.00397	N	AEFBI	0.015930	0.00328	N	-1.33586624352162	0.03274	0.1459584	-1.54872497766398	0.01985	0.0906649	1.28470643324931E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.401000	0.07293	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.5995:0.0:0.4005	5.878	0.18089	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	31525.16	90	chr19	54865847	.	T	C	31525.16	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.74;DP=3983;ExcessHet=14.4320;FS=0.597;InbreedingCoeff=-0.5108;MLEAC=14;MLEAF=0.333;MQ=58.27;MQRankSum=-1.006e+01;QD=8.70;ReadPosRankSum=0.977;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,72:265:99:0|1:54865847_T_C:2442,0,7882:54865847	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|1:196,72:268:99:0|1:54865847_T_C:2433,0,8013:54865847	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|1:195,64:259:99:0|1:54865847_T_C:2100,0,7995:54865847	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|1:193,67:260:99:0|1:54865847_T_C:2232,0,7902:54865847	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|1:184,59:243:99:0|1:54865847_T_C:1924,0,7549:54865847	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|1:187,60:247:99:0|1:54865847_T_C:1957,0,7587:54865847	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|1:177,59:236:99:0|1:54865847_T_C:1937,0,7144:54865847	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|1:267,29:296:99:0|1:54866416_T_C:414,0,11109:54866416	7	0	14	0
chr19	55186344	55186344	G	A	exonic	PTPRH	.	stopgain	PTPRH:NM_001161440:exon14:c.C2125T:p.Q709X	.	.	425	1086	11	0	0	11	0.00503894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.367	N	1.000	A	.	.	.	.	.	.	.	.	.	5.636	36	1.53	0.199	0.372	12.232	.	.	0.0025	0.00179712	0.0027	0.0004	0.0041	0.0002	0.0005	0.0039	0.0033	0.0004	0.0027619	427	154602	rs147881000	0.0028	0.0028	0.0028	0.0028	0.0083	0.0027	0.0027	0.0065	0.0058	0.0004	0.0047	0.0047	0	0.0007	0.0083	0.0031	0.0030	0.0005	0.0024	0.0024	0.0026	0.0021	0.0043	0.0022	0.0021	0.0035	0.0032	0.0007	0.0077	0.0043	0.0049	0	0.0003	0.0034	0.0034	0.0038	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.367308	0.04340	N	1.587010	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.339	0.39254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0354934	0.56452	T	0.278611	0.87050	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	9.322015	0.98772	40	0.98467525123518973	0.41814	0.13782	0.18049	N	AEFDBHCI	0.067906	0.13372	N	0.0713427077347306	0.45130	2.774701	-0.239442465834879	0.30138	1.694264	0.97311736924423	0.29427	0.516011	0.20929	0	0.573888	0.26702	0	0.577349	0.28860	0	0.567892	0.33627	0	.	.	5.12	1.53	0.22224	1.036000	0.29837	2.303000	0.32029	0.672000	0.70159	0.001000	0.13787	0.996000	0.32793	0.474000	0.28430	0.0:0.0:0.4062:0.5938	12.232	0.53808	988	0.01987	PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1888.98	42	chr19	55186344	.	G	A	1888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.345;DP=897;ExcessHet=0.0000;FS=0.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.20;ReadPosRankSum=0.106;SOR=0.594	GT:AD:DP:GQ:PL	0/1:63,70:133:99:1903,0,1665	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|1:2,93,0:95:99:1|1:55358511_GGCTCCTTCATCTCGCCCCATGGCT_G:3179,238,0,3185,281,3228:55358511	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|1:0,93,0:95:99:1|1:55358511_GGCTCCTTCATCTCGCCCCATGGCT_G:4211,291,0,3942,356,4121:55358511	0	18	2	0
chr19	56158515	56158515	G	A	exonic	ZNF444	.	nonsynonymous SNV	ZNF444:NM_001253792:exon4:c.G319A:p.G107R	.	.	426	1061	35	0	0	35	0.0162262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.0	B	0.001	B	.	.	1.000	N	0	N	3.68	T	-0.900	T	0.005	T	0.081	-0.527	1.598	-1.29	-0.313	-0.496	5.051	0.004	.	0.0067	0.00339457	0.0082	0.0020	0.0049	0	0.0043	0.0115	0.0125	0.0069	0.007943	1228	154602	rs61736532	0.0094	0.0094	0.0095	0.0093	0.0109	0.0093	0.0092	0.0107	0.0107	0.0014	0.0046	0.0007	0	0.0043	0.0096	0.0109	0.0082	0.0066	0.0064	0.0064	0.0069	0.0058	0.0108	0.0060	0.0059	0.0101	0.0099	0.0020	0.0044	0.0029	0.0006	0.0002	0.0030	0	0.0108	0.0095	0.0095	0.697	0.04213	T	0.439	0.13365	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.68	0.05014	T	0.6	0.02518	N	0.128	0.12198	-0.9002	0.47973	T	0.005	0.01542	T	9	0.0043236613	0.00087	T	.	.	.	0.004	0.00165	0.283	0.23961	0.110392049598	0.10638	0.2570395806797124	0.25617	0.937401965757	0.72080	0.565487921238	0.48041	T	0.004692	0.04103	T	-0.724695	0.00026	T	-0.803363	0.01820	T	4.98587724118808e-05	0.00000	T	0.317668	0.06346	T	0.029129205	0.02357	0.04610857	0.06352	0.029129205	0.02357	0.04610857	0.06352	-4.002	0.24177	T	.	.	0.294	0.52524	B	.;.	.;.	-0.074704	0.03794	0.801	0.45673323173144625	0.03602	0.01628	0.05253	N	AEFDBI	0.048564	0.08300	N	-1.46357144132358	0.02112	0.09293035	-1.50598447123722	0.02297	0.1054501	0.0246714341579052	0.13596	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	2.69	-1.29	0.08805	-0.132000	0.10446	.	.	-0.179000	0.10443	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4134:0.4452:0.1414	5.051	0.13849	928	0.17405	SCAN domain;SCAN 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	749.98	33	chr19	56158515	.	G	A	749.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.950e-01;DP=758;ExcessHet=0.0000;FS=2.212;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=-1.575e+00;SOR=0.380	GT:AD:DP:GQ:PL	0/1:30,30:60:99:764,0,821	20	0	1	0
chr19	57606544	57606544	G	A	exonic	ZNF530	.	nonsynonymous SNV	ZNF530:NM_020880:exon3:c.G1019A:p.R340H	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.003	B	0.005	B	.	.	1.000	N	1.93	M	1.8	T	-0.987	T	0.048	T	0.079	1.567	11.20	-4.54	-0.815	-8.002	5.110	0.016	0.00172770887513	.	.	9.884e-05	0	0	0	0	0.0001	0	0.0003	7.76e-05	12	154602	rs758522483	3.42e-05	3.42e-05	3.131e-05	3.713e-05	0.0002	2.631e-05	2.375e-05	0.0001	9.45e-05	2.987e-05	8.944e-05	0	0	0	0	2.338e-05	4.967e-05	0.0002	6.622e-06	6.591e-06	0	1.356e-05	1.476e-05	0	0	.	.	0	0	0	0	0	0	0	1.476e-05	0	0	0.176	0.22312	T	0.255	0.23365	T	0.003	0.11197	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.99	0.53851	M	1.8	0.25344	T	-1.51	0.36787	N	0.049	0.02088	-0.9866	0.33445	T	0.048	0.20553	T	9	0.030672103	0.01196	T	0.001728	0.02908	T	0.016	0.02506	0.385	0.40460	0.0297737177859	0.01360	0.025710590198168768	0.02522	0.161068039846	0.18175	0.317789971828	0.13085	T	0.006092	0.05528	T	-0.517854	0.00453	T	-0.74497	0.03685	T	0.0917412415146828	0.11423	T	.	.	.	0.021261284	0.00719	0.0313462	0.01710	0.021261284	0.00719	0.0313462	0.01710	-8.103	0.61771	D	.	.	0.432	0.61300	A	.	.	0.036782	0.04542	1.233	0.97916217303657871	0.36850	0.00857	0.03413	N	AEFBHCI	0.017364	0.00450	N	-1.660430637299	0.00992	0.04299816	-1.82844340792084	0.00672	0.02990758	0.0910746220704158	0.16126	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	2.27	-4.54	0.03207	-8.859000	0.00021	.	.	-0.715000	0.03906	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5279:0.1485:0.3235:0.0	5.110	0.14140	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	3049.98	74	chr19	57606544	.	G	A	3049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=1751;ExcessHet=0.0000;FS=3.099;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.39;ReadPosRankSum=-6.440e-01;SOR=0.503	GT:AD:DP:GQ:PL	0/1:97,115:212:99:3064,0,2281	20	0	1	0
chr19	57702381	57702381	C	A	exonic	ZNF154	.	stopgain	ZNF154:NM_001085384:exon3:c.G568T:p.E190X,	.	.	419	1100	2	1	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.006	16.03	0.444	0.193	-3.967	2.249	.	.	.	0.00399361	0.0012	0	0	0	0	2.997e-05	0	0.0090	0.0011255	174	154602	rs544751825	0.0005	0.0005	0.0003	0.0007	0.0075	0.0005	0.0004	0.0070	0.0068	0	2.238e-05	0	0	0	0.0005	9.902e-06	0.0008	0.0075	0.0003	0.0003	0.0002	0.0006	0.0106	0.0003	0.0002	0.0083	0.0074	0	0	0	0	0	0	0	2.94e-05	0	0.0106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.033	0.00882	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.00520038	0.50936	T	0.225868	0.84469	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.835431	0.93756	33	0.99234664489689184	0.56342	0.03468	0.08623	N	AEFDGBI	0.033577	0.04009	N	-0.0838766128490845	0.38098	2.226296	-0.482090163027226	0.22646	1.231126	4.03404832875359E-4	0.06860	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	2.6	0.444	0.15803	-3.811000	0.00405	.	.	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.2476:0.458:0.0:0.2944	2.249	0.03793	976	0.04745	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2987.98	42	chr19	57702381	.	C	A	2987.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.350e-01;DP=1990;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.16;ReadPosRankSum=0.990;SOR=0.666	GT:AD:DP:GQ:PL	0/1:104,107:211:99:3002,0,3789	20	0	1	0
chr20	2865421	2865421	G	A	exonic	VPS16	.	nonsynonymous SNV	VPS16:NM_080413:exon18:c.G1765A:p.A589T	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.995	D	0.903	P	0.000	D	1.000	D	1.67	L	0.96	T	-0.825	T	0.210	T	0.588	3.142	16.51	5.64	2.655	4.767	17.198	0.123	0.0120488276617	.	0.000199681	6.63e-05	0	0	0.0002	0.0002	1.508e-05	0.0022	0.0001	5.82e-05	9	154602	rs529582383	3.831e-05	3.831e-05	2.314e-05	5.363e-05	0.0007	3.025e-05	2.719e-05	0.0002	0.0001	2.987e-05	2.236e-05	0	0.0002	0	0.0007	1.259e-05	9.934e-05	0.0003	7.876e-05	7.873e-05	5.139e-05	0.0001	0.0010	4.492e-05	3.509e-05	0.0004	0.0003	2.405e-05	0	0	0	0.0008	0	0	1.47e-05	0.0005	0.0010	0.304	0.14303	T	0.339	0.18071	T	0.995	0.67487	D	0.903	0.64103	P	0.000000	0.84330	D	0.049358	1	0.81001	D	1.66	0.42513	L	0.96	0.42888	T	-0.93	0.39503	N	0.7	0.71232	-0.8245	0.53651	T	0.210	0.56933	T	10	0.36082017	0.52717	T	0.012049	0.30270	T	0.123	0.34020	0.674	0.81200	0.494433119893	0.49078	0.6441469812253703	0.64349	0.73719295691	0.63037	0.489508867264	0.37370	T	0.074577	0.34972	T	-0.264995	0.12321	T	-0.326275	0.41882	T	0.133033378778139	0.15660	T	0.952205	0.81731	D	0.3167183	0.54361	0.23870814	0.49200	0.3167183	0.54361	0.23870814	0.49199	-7.755	0.59389	D	.	.	0.193	0.41264	B	.;.	.;.	4.807511	0.78178	26.8	0.99846071452540563	0.92576	0.89557	0.50097	D	AEFDBCI	0.606754	0.59698	D	0.536378530525652	0.69258	5.33131	0.591081021750271	0.74299	6.113425	0.9987682253811	0.37623	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	4.870000	0.62730	9.932000	0.82588	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.198	0.86778	480	0.77422	Vps16, 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	0.04762	3873.11	33	chr20	2865421	.	G	A	3873.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.827e+00;DP=969;ExcessHet=0.1072;FS=2.646;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=0.816;SOR=0.539	GT:AD:DP:GQ:PL	0/1:74,91:165:99:2444,0,1914	19	0	2	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	0/1:74,38:121:99:107,0,1256	5	0	16	0
chr20	4724632	4724632	G	C	exonic	PRND	.	nonsynonymous SNV	PRND:NM_012409:exon2:c.G81C:p.R27S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.004	N	1.000	N	2.215	M	0.84	T	-0.740	T	0.239	T	0.467	2.598	14.65	-2.5	-0.409	-0.125	12.488	0.196	0.0302415521375	.	.	2.481e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs757042575	1.095e-05	1.094e-05	4.084e-06	1.788e-05	9.275e-05	6.48e-06	5.24e-06	4.579e-05	3.272e-05	0	2.236e-05	0	0	0	0	6.295e-06	0	9.275e-05	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.004396	0.33795	N	0.134843	0.999928	0.19486	N	2.455	0.71248	M	0.84	0.47477	T	-2.22	0.49846	N	0.205	0.22742	-0.7395	0.58478	T	0.239	0.60619	T	10	0.30076218	0.47621	T	0.030242	0.52590	D	0.196	0.47777	0.368	0.37687	0.638930745872	0.63595	0.49985981086916353	0.49906	0.422609289591	0.42753	0.341062694788	0.16597	T	0.236077	0.60348	T	-0.25978	0.12925	T	-0.374264	0.36390	T	0.862051010131836	0.51238	D	0.90251	0.65969	D	0.24587667	0.47551	0.32400817	0.58328	0.24587667	0.47551	0.32400817	0.58327	-2.82	0.08369	T	.	.	0.579	0.68002	P	.	.	1.735519	0.22085	15.48	0.99266324369413061	0.57390	0.18276	0.20193	N	AEFDBI	0.115131	0.22650	N	-0.0309773664497907	0.40455	2.402844	-0.23715152820287	0.30217	1.699428	0.883195662576451	0.25668	0.497415	0.19182	0	0.547309	0.14657	0	0.48864	0.07692	0	0.542086	0.14980	0	.	.	5.47	-2.5	0.06015	-0.047000	0.11917	-0.011000	0.13060	0.676000	0.76740	0.900000	0.31427	0.087000	0.22477	0.222000	0.22517	0.2649:0.0:0.7351:0.0	12.488	0.55224	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1423.98	34	chr20	4724632	.	G	C	1423.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.458;DP=858;ExcessHet=0.0000;FS=0.797;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.83;ReadPosRankSum=0.233;SOR=0.826	GT:AD:DP:GQ:PL	0/1:42,54:96:99:1438,0,1069	20	0	1	0
chr20	6084158	6084158	C	T	exonic	FERMT1	.	nonsynonymous SNV	FERMT1:NM_017671:exon13:c.G1600A:p.A534T,	Kindler syndrome, Autosomal recessive	.	0	1492	28	2	0	32	0.0106101	.	.	336178	not_provided|Kindler_syndrome	MedGen:C3661900|MONDO:MONDO:0008260,MedGen:C0406557,OMIM:173650,Orphanet:2908,Orphanet:306539	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.25	T	0.924	P	0.272	B	0.000	D	0.993	D	0.95	L	-0.64	T	-0.861	T	0.143	T	0.174	2.153	13.16	3.74	1.089	3.058	12.942	0.125	.	0.0042	0.00199681	0.0066	0.0014	0.0031	0.0003	0.0029	0.0078	0.0014	0.0120	0.0056856	879	154602	rs2232078	0.0065	0.0065	0.0062	0.0068	0.0129	0.0064	0.0063	0.0122	0.0120	0.0005	0.0032	0.0022	5.046e-05	0.0036	0.0077	0.0067	0.0067	0.0129	0.0046	0.0046	0.0045	0.0046	0.0104	0.0043	0.0042	0.0081	0.0073	0.0011	0	0.0037	0.0032	0	0.0035	0.0034	0.0071	0.0057	0.0104	0.546	0.14793	T	0.624	0.08134	T	0.924	0.51285	P	0.272	0.39956	B	0.000005	0.62929	D	0.107079	0.992975	0.41798	D	1.385	0.34509	L	-0.64	0.72125	T	-0.8	0.22078	N	0.214	0.25622	-0.8614	0.51162	T	0.143	0.46514	T	10	0.009170681	0.00207	T	.	.	.	0.125	0.34456	.	.	0.799874578581	0.79800	0.2138898619654852	0.21304	0.437021590395	0.43776	0.623721897602	0.56255	T	0.152834	0.49341	T	-0.416639	0.01798	T	-0.360862	0.37953	T	0.0175300740710957	0.00488	T	0.846715	0.52677	T	0.10682079	0.25259	0.1019157	0.24411	0.108017944	0.25540	0.1019157	0.24411	-5.158	0.38512	T	0.10260011356424363	0.07817	0.083	0.09433	B	.;.	.;.	3.663716	0.52058	23.2	0.99304286532311514	0.58759	0.90828	0.52337	D	AEFBI	0.186933	0.31423	N	0.0734913552988999	0.45229	2.782964	0.120476683083129	0.45597	2.820088	0.166826260636014	0.17676	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.668105	0.65232	0	.	.	4.68	3.74	0.42108	2.578000	0.45716	4.002000	0.41083	0.599000	0.40250	0.981000	0.35396	0.999000	0.35428	0.966000	0.53164	0.0:0.9208:0.0:0.0791	12.942	0.57745	808	0.43318	FERM central domain|Band 4.1 domain;FERM central domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2076.98	35	chr20	6084158	.	C	T	2076.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.61;DP=1374;ExcessHet=0.0000;FS=1.477;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=-5.580e-01;SOR=0.535	GT:AD:DP:GQ:PL	0/1:71,76:147:99:2091,0,1674	20	0	1	0
chr20	17643110	17643110	C	T	exonic	RRBP1	.	nonsynonymous SNV	RRBP1:NM_001365613:exon4:c.G1930A:p.G644S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.008	B	0.015	B	0.640	N	1.000	D	1.04	L	2.2	T	-0.950	T	0.032	T	0.064	0.322	5.744	-2.33	-0.233	1.021	12.424	0.043	0.0102728123574	0.0002	.	5.051e-05	0	0	0	0	6.111e-05	0	0.0001	3.88e-05	6	154602	rs138581851	2.942e-05	2.941e-05	2.451e-05	3.438e-05	0.0009	2.217e-05	1.97e-05	0.0003	0.0002	0	0	0	0	0	0.0009	1.259e-05	6.624e-05	0.0002	1.972e-05	1.97e-05	0	4.037e-05	0.0004	5.24e-06	2.45e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.436	0.09374	T	0.507	0.10930	T	0.008	0.14655	B	0.015	0.17295	B	0.640290	0.10605	N	0.790343	0.602758	0.81001	D	0.58	0.15352	N	2.2	0.18570	T	-0.85	0.24244	N	0.182	0.19728	-0.9499	0.40989	T	0.032	0.13592	T	10	0.048026353	0.04199	T	0.010273	0.26610	T	0.043	0.11576	.	.	0.218845423259	0.21516	0.10923442054640545	0.10852	0.482003060789	0.47171	0.28434997797	0.08106	T	0.063535	0.32202	T	-0.537162	0.00348	T	-0.71318	0.05133	T	0.0445066628990095	0.04511	T	0.860814	0.55431	D	0.031224241	0.02922	0.07312412	0.15855	0.031224241	0.02922	0.07312412	0.15855	-3.156	0.11951	T	.	.	0.067	0.02518	B	.;.;.;.;.	.;.;.;.;.	1.248155	0.16447	12.55	0.4388970269177731	0.03336	0.52994	0.29265	D	AEFBCI	0.187558	0.31485	N	-1.09995317324911	0.06645	0.3064608	-1.07308053844699	0.08232	0.4038978	0.99237260095325	0.32817	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.26	-2.33	0.06340	1.033000	0.29798	1.299000	0.25462	-0.242000	0.07441	0.828000	0.30104	0.999000	0.35428	0.325000	0.25087	0.0:0.72:0.0:0.28	12.424	0.54870	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	946.98	37	chr20	17643110	.	C	T	946.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=816;ExcessHet=0.0000;FS=0.824;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=0.238;SOR=0.860	GT:AD:DP:GQ:PL	0/1:55,38:93:99:961,0,1372	20	0	1	0
chr20	17659162	17659162	C	T	exonic	RRBP1	.	nonsynonymous SNV	RRBP1:NM_001365613:exon3:c.G1346A:p.G449D,	.	.	440	1075	7	0	0	7	0.00324525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	.	.	.	.	0.003	N	1.000	N	.	.	-0.16	T	-0.859	T	0.211	T	0.52	2.782	15.26	3.78	1.293	-0.437	8.252	0.236	.	.	.	0.0069	0.0024	0.0057	0.0125	0.0109	0.0072	0	0.0064	0.0001153	3	26028	rs78244614	0.0009	0.0025	0.0006	0.0013	0.0018	0.0009	0.0009	0.0014	0.0013	0.0005	0.0015	0.0009	0.0018	0.0022	0.0017	0.0009	0.0008	0.0006	0.0007	0.0023	0.0007	0.0007	0.0013	0.0006	0.0005	0.0008	0.0007	0.0002	0	0.0013	0	0.0010	0.0011	0	0.0008	0.0023	0.0003	0.002	0.72154	D	0.073	0.43159	T	.	.	.	.	.	.	0.002516	0.36425	N	0.000000	1	0.08975	N	1.1	0.28011	L	-0.16	0.65378	T	-1.25	0.31576	N	0.556	0.58117	-0.8589	0.51341	T	0.211	0.57161	T	7	0.0057474673	0.00128	T	.	.	.	0.236	0.53931	.	.	0.558889990735	0.55549	.	.	.	.	.	.	.	0.172587	0.52114	T	-0.314382	0.07367	T	-0.280713	0.46730	T	0.0132913322339415	0.00238	T	0.727827	0.34232	T	0.080974296	0.18582	0.14442408	0.34289	0.080974296	0.18581	0.14442408	0.34288	-11.478	0.82215	D	.	.	0.514	0.65230	A	.;.	.;.	2.704687	0.35341	19.87	0.99540405673644428	0.70461	0.13086	0.17655	N	AEFBI	.	.	.	-0.407713224649445	0.25199	1.366131	-0.527968319027065	0.21395	1.157205	0.999877974346672	0.44625	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.75	3.78	0.42629	-0.722000	0.05061	0.040000	0.13855	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.8111:0.0:0.1889	8.252	0.30895	899	0.25060	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	506.42	162	chr20	17659162	.	C	T	506.42	.	AC=1;AF=0.063;AN=16;BaseQRankSum=2.66;DP=3334;ExcessHet=0.0000;FS=4.711;InbreedingCoeff=-0.2174;MLEAC=2;MLEAF=0.125;MQ=48.54;MQRankSum=2.14;QD=4.22;ReadPosRankSum=-4.937e+00;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,20:120:99:0|1:17659162_C_T:513,0,3932:17659162	7	0	1	13
chr20	32839770	32839770	G	A	exonic	MAPRE1	.	nonsynonymous SNV	MAPRE1:NM_012325:exon5:c.G511A:p.A171T,	.	.	418	1086	18	0	0	18	0.00821918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.004	B	0.006	B	0.023	N	0.997	D	0.49	N	0.75	T	-1.091	T	0.076	T	0.253	1.392	10.59	3.08	0.786	1.436	13.315	0.031	.	0.0002	0.00299521	0.0019	0.0003	0.0007	0	0	0.0002	0.0055	0.0121	0.0016494	255	154602	rs374092179	0.0008	0.0008	0.0005	0.0012	0.0121	0.0008	0.0008	0.0115	0.0112	2.987e-05	6.708e-05	0	0	0	0.0050	7.194e-05	0.0011	0.0121	0.0005	0.0005	0.0002	0.0007	0.0108	0.0004	0.0003	0.0084	0.0076	9.623e-05	0	0.0003	0	0	0	0.0034	0.0001	0.0005	0.0108	0.244	0.17468	T	0.34	0.18018	T	0.004	0.12183	B	0.006	0.12133	B	0.022673	0.26589	N	0.399541	0.996799	0.43422	D	0.965	0.23975	L	0.75	0.50192	T	0.48	0.03041	N	0.216	0.24135	-1.0915	0.05286	T	0.076	0.30429	T	10	0.0037770271	0.00070	T	.	.	.	0.031	0.07369	.	.	0.417183330711	0.41332	0.4672995081289453	0.46648	0.367858101756	0.38347	0.461358457804	0.33497	T	0.046655	0.27488	T	-0.489096	0.00657	T	-0.463652	0.26202	T	0.0044250417205482	0.00047	T	0.69903	0.30897	T	0.099409126	0.23461	0.11817439	0.28527	0.099409126	0.23461	0.11817439	0.28526	-4.527	0.31240	T	.	.	0.066	0.02200	B	.	.	1.979463	0.25148	16.66	0.97027241803136388	0.32051	0.84481	0.43563	D	AEFDBCI	0.340668	0.43741	N	-0.718343764915602	0.15507	0.7820598	-0.573407941403257	0.20187	1.086516	0.638446806586041	0.22031	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.11	3.08	0.34576	1.529000	0.35602	5.632000	0.49119	-0.199000	0.08999	0.993000	0.37899	1.000000	0.68203	0.120000	0.19168	0.0:0.0:0.6913:0.3087	13.315	0.59840	286	0.88678	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2814.11	42	chr20	32839770	.	G	A	2814.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.681;DP=995;ExcessHet=0.1072;FS=1.672;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=0.340;SOR=0.614	GT:AD:DP:GQ:PL	0/1:42,57:99:99:1392,0,945	19	0	2	0
chr20	37184332	37184332	G	A	exonic	RPN2	.	nonsynonymous SNV	RPN2:NM_001135771:exon2:c.G166A:p.V56M	.	.	.	.	.	.	.	.	.	.	.	3064565	Congenital_disorder_of_glycosylation	MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.23	T	0.993	D	0.804	P	0.000	D	0.993	D	1.78	L	0.86	T	-0.917	T	0.156	T	0.368	3.399	17.48	1.62	0.635	4.378	4.273	0.221	0.00844877041333	7.7e-05	0.000599042	0.0003	0	0	0	0	2.999e-05	0	0.0024	0.000304	47	154602	rs146095088	0.0001	0.0001	8.439e-05	0.0002	0.0019	0.0001	0.0001	0.0017	0.0016	0	0	0	0	0	0	1.888e-05	0.0001	0.0019	9.192e-05	9.186e-05	8.993e-05	9.4e-05	0.0027	5.524e-05	4.361e-05	0.0016	0.0013	2.405e-05	0	0	0	0	0	0	0	0	0.0027	0.16	0.34444	T	0.023	0.67890	D	0.993	0.65571	D	0.804	0.58350	P	0.000012	0.62929	D	0.065280	0.992634	0.41700	D	2.44	0.70756	M	0.86	0.46777	T	0.0	0.08187	N	0.677	0.73555	-0.9169	0.45971	T	0.156	0.48721	T	10	0.016771704	0.00355	T	0.008449	0.22357	T	0.221	0.51721	.	.	0.607155259044	0.60400	0.5523259098185079	0.55158	0.623859276739	0.56610	0.617620229721	0.55392	T	0.090069	0.38507	T	-0.4037	0.02189	T	-0.359448	0.38116	T	0.114555169896914	0.13889	T	0.975102	0.91204	D	0.049557693	0.08819	0.054963913	0.09554	0.049557693	0.08819	0.054963913	0.09554	-6.159	0.47590	T	.	.	0.133	0.49654	B	.;.;.	.;.;.	4.128143	0.61754	24.4	0.99878451297840254	0.95491	0.73562	0.35982	D	AEFDGBHCI	0.696143	0.65458	D	0.284242506638098	0.55349	3.699048	0.225820635313421	0.51286	3.312337	0.999948259189394	0.47345	0.645754	0.44609	0	0.696144	0.67643	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.8	1.62	0.22817	4.345000	0.59140	3.513000	0.38852	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.1948:0.0:0.6256:0.1796	4.273	0.10241	348	0.85549	.;.;.	.	.	.	.	.	Uncertain significance	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	1958.98	46	chr20	37184332	.	G	A	1958.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.858;DP=894;ExcessHet=0.0000;FS=1.422;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.07;ReadPosRankSum=-1.363e+00;SOR=0.852	GT:AD:DP:GQ:PL	0/1:54,76:130:99:1973,0,1222	20	0	1	0
chr20	38239704	38239704	G	A	exonic	KIAA1755	.	nonsynonymous SNV	KIAA1755:NM_001029864:exon4:c.C1571T:p.T524I	.	.	426	1075	21	0	0	21	0.00967296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.998	D	0.994	D	0.016	N	0.730	N	1.725	L	3.37	T	-1.123	T	0.025	T	0.21	0.847	8.426	3.48	2.466	2.983	7.662	0.059	.	0.0060	0.00239617	0.0067	0.0016	0.0041	0.0001	0.0009	0.0097	0.0112	0.0049	0.0069339	1072	154602	rs11699859	0.0086	0.0086	0.0087	0.0086	0.0231	0.0085	0.0084	0.0199	0.0187	0.0021	0.0048	0.0250	5.038e-05	0.0012	0.0231	0.0095	0.0090	0.0042	0.0061	0.0061	0.0064	0.0057	0.0091	0.0057	0.0056	0.0085	0.0083	0.0017	0	0.0058	0.0239	0	0.0004	0.0238	0.0091	0.0142	0.0046	0.262	0.16466	T	0.534	0.11263	T	0.998	0.73220	D	0.994	0.82059	D	0.015797	0.28151	N	0.252227	0.730195	0.29837	N	1.67	0.42885	L	3.37	0.05847	T	-1.64	0.39314	N	0.238	0.26837	-1.1234	0.02127	T	0.025	0.10553	T	10	0.0070616305	0.00160	T	.	.	.	0.059	0.16972	.	.	0.345859378078	0.34197	0.3229361013259496	0.32206	0.233706323324	0.25904	0.442297697067	0.30891	T	0.003369	0.02778	T	-0.5648	0.00238	T	-0.573041	0.15172	T	0.0375556806196899	0.03253	T	0.645335	0.25688	T	0.074009895	0.16579	0.094342776	0.22328	0.074009895	0.16579	0.094342776	0.22327	-5.189	0.38830	T	.	.	0.173	0.37932	B	.;.	.;.	4.250465	0.64514	24.7	0.87617255068720179	0.17357	0.74879	0.36642	D	AEFDBIJ	0.298890	0.40808	N	0.401004633049871	0.61479	4.349444	0.362794296047759	0.59280	4.104712	0.061314928042297	0.15227	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	4.43	3.48	0.38946	3.181000	0.50603	5.503000	0.48778	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.730000	0.35099	0.1125:0.0:0.8875:0.0	7.662	0.27573	898	0.25240	.;.	.	.	KIAA1755	Artery_Aorta	.	Uncertain significance	0	0	0	0	0	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	1480.98	33	chr20	38239704	.	G	A	1480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.30;DP=829;ExcessHet=0.0000;FS=0.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=-1.087e+00;SOR=0.760	GT:AD:DP:GQ:PL	0/1:68,60:128:99:1495,0,1514	20	0	1	0
chr20	41362193	41362193	C	T	exonic	EMILIN3	.	nonsynonymous SNV	EMILIN3:NM_052846:exon4:c.G1376A:p.G459E,	.	.	434	1045	38	4	1	47	0.0215356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.883	P	0.36	B	0.569	N	1.000	N	1.7	L	2.6	T	-1.040	T	0.016	T	0.117	0.050	4.272	0.116	0.146	0.494	7.074	0.087	.	0.0016	0.0105831	0.0065	0.0019	0.0178	0.0145	0	0.0021	0.0090	0.0180	0.006203	959	154602	rs2235591	0.0045	0.0045	0.0041	0.0048	0.0321	0.0044	0.0043	0.0306	0.0300	0.0008	0.0178	0.0013	0.0321	0	0.0097	0.0022	0.0056	0.0182	0.0042	0.0042	0.0039	0.0045	0.0199	0.0039	0.0038	0.0168	0.0156	0.0012	0	0.0147	0.0020	0.0199	0	0.0068	0.0021	0.0104	0.0182	1.0	0.00964	T	0.17	0.30436	T	0.883	0.48537	P	0.36	0.43183	B	0.569009	0.11258	N	0.787443	1	0.08975	N	1.78	0.46185	L	2.6	0.13204	T	-1.03	0.27052	N	0.126	0.11912	-1.0395	0.17465	T	0.016	0.06616	T	9	0.0035164952	0.00063	T	.	.	.	0.087	0.25287	.	.	0.274366138417	0.27033	0.4090357898995136	0.40819	0.194200511898	0.21755	0.307287752628	0.11497	T	0.005593	0.05042	T	-0.64763	0.00075	T	-0.688115	0.06498	T	0.0123370872206633	0.00200	T	0.462854	0.13445	T	0.050630543	0.09178	0.059650447	0.11231	0.050630543	0.09177	0.059650447	0.11231	-3.756	0.20149	T	.	.	0.069	0.03231	B	.	.	1.182456	0.15731	12.06	0.88620130383890861	0.18120	0.15972	0.19170	N	AEFDBCI	0.129058	0.24707	N	-0.63572866531942	0.17878	0.9237465	-0.781991029340394	0.14937	0.7830685	0.032117950665719	0.14038	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.96	0.116	0.13953	0.103000	0.15128	1.404000	0.26222	-0.216000	0.08207	0.000000	0.06391	0.023000	0.20922	0.214000	0.22296	0.1633:0.5833:0.0:0.2535	7.074	0.24370	950	0.11238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3839.11	34	chr20	41362193	.	C	T	3839.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.46;DP=1067;ExcessHet=0.1072;FS=1.396;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=0.886;SOR=0.592	GT:AD:DP:GQ:PL	0/1:81,78:159:99:1995,0,2041	19	0	2	0
chr20	43514564	43514564	A	G	exonic	L3MBTL1	.	nonsynonymous SNV	L3MBTL1:NM_001377307:exon1:c.A20G:p.H7R	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.039	B	0.01	B	0.001	N	1.000	N	0	N	2.27	T	-1.022	T	0.023	T	0.13	1.409	10.65	1.37	0.398	-0.863	4.033	0.014	0.00883585119161	.	.	5.274e-05	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs757452025	1.248e-05	1.3e-05	1.239e-05	1.257e-05	0.0003	7.8e-06	6.44e-06	7.352e-05	5.648e-05	0	0	0	0	0	0.0003	4.536e-06	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.529	0.15010	T	0.039	0.21116	B	0.01	0.14941	B	0.000878	0.00701	N	3.872860	1	0.08975	N	.	.	.	2.23	0.18083	T	-0.08	0.08187	N	0.049	0.04668	-1.0221	0.23031	T	0.023	0.09650	T	10	0.07290208	0.10945	T	0.008836	0.23318	T	0.014	0.01968	0.237	0.16760	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.006711	0.06137	T	-0.463862	0.00930	T	-0.634783	0.10053	T	0.417912662029266	0.29613	T	0.312769	0.06128	T	.	.	.	.	.	.	.	.	-1.469	0.01728	T	.	.	0.065	0.02200	B	.;.;.	.;.;.	0.283828	0.06604	3.098	0.63363483641327811	0.07204	0.01104	0.04047	N	ALL	0.042800	0.06686	N	-1.16229503645705	0.05580	0.254765	-1.19629817618575	0.05971	0.2860587	0.999999999997175	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	2.47	1.37	0.21200	-0.519000	0.06345	-0.224000	0.10736	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.8236:0.0:0.1764:0.0	4.033	0.09201	662	0.61715	.;.;.	.	.	.	.	.	Uncertain significance	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	869.11	43	chr20	43514564	.	A	G	869.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.970e-01;DP=771;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.36;ReadPosRankSum=1.04;SOR=0.646	GT:AD:DP:GQ:PL	0/1:30,24:54:99:551,0,764	19	0	2	0
chr20	45375370	45375370	G	A	exonic	TP53TG5	.	nonsynonymous SNV	TP53TG5:NM_014477:exon4:c.C437T:p.A146V,	.	.	.	.	.	.	.	.	.	.	.	2346568	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.366	B	0.028	B	0.348	N	1.000	N	1.32	L	2.39	T	-1.010	T	0.029	T	0.056	2.147	13.14	-3.77	-0.775	-1.384	4.468	0.003	0.00512102204138	.	.	2.471e-05	0	0.0002	0	0	1.498e-05	0	0	1.94e-05	3	154602	rs778649036	1.026e-05	1.026e-05	1.225e-05	8.25e-06	6.708e-05	6.16e-06	4.89e-06	1.779e-05	8.93e-06	2.987e-05	6.708e-05	0	0	0	0	8.093e-06	3.311e-05	0	3.946e-05	3.941e-05	5.142e-05	2.693e-05	0.0003	1.717e-05	1.13e-05	0.0001	8.3e-05	2.416e-05	0	0.0003	0	0	0	0	0	0	0	0.153	0.24372	T	0.045	0.49390	D	0.366	0.34016	B	0.028	0.21332	B	0.347565	0.04225	N	1.384030	1	0.08975	N	0.49	0.13296	N	2.39	0.15724	T	-1.72	0.40850	N	0.039	0.01274	-1.0099	0.26949	T	0.029	0.12585	T	10	0.041754454	0.02860	T	0.005121	0.13001	T	0.003	0.00094	0.303	0.27164	0.0401082797425	0.02173	0.05702501367945709	0.05643	0.196960971911	0.22067	0.204035073519	0.00583	T	0.001676	0.01102	T	-0.51472	0.00472	T	-0.801289	0.01870	T	0.0269237471165514	0.01533	T	0.441756	0.12241	T	0.036654547	0.04550	0.043444358	0.05408	0.036654547	0.04550	0.043444358	0.05407	-3.583	0.17611	T	.	.	0.137	0.29779	B	.	.	0.019934	0.04423	1.156	0.96318138044948909	0.29403	0.01028	0.03857	N	AEFBI	0.019957	0.00742	N	-1.13004716982293	0.06115	0.280606	-1.26313880152989	0.04939	0.2341898	0.921337659733985	0.26668	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.72	-3.77	0.04062	-1.376000	0.02667	-0.803000	0.07366	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2892:0.0:0.2434:0.4675	4.468	0.11119	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3315.98	35	chr20	45375370	.	G	A	3315.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=974;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=-3.600e-02;SOR=0.693	GT:AD:DP:GQ:PL	0/1:120,135:255:99:3330,0,2678	20	0	1	0
chr20	45857313	45857313	-	ATCT	exonic	ACOT8	.	startloss	ACOT8:NM_005469:exon1:c.2_3insAGAT:p.M1?,	.	.	425	1040	53	4	0	61	0.0284914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.029353	0.0253	0.0006	0.0021	0.0353	0.0008	0.0044	0.0100	0.1046	0.0014215	37	26028	rs201025211	0.0089	0.0090	0.0066	0.0112	0.0854	0.0087	0.0087	0.0838	0.0831	0.0011	0.0011	0.0061	0.0228	0.0003	0.0110	0.0033	0.0133	0.0854	0.0058	0.0059	0.0046	0.0072	0.0886	0.0055	0.0054	0.0817	0.0790	0.0005	0	0.0014	0.0084	0.0286	0	0.0204	0.0032	0.0099	0.0886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4857.64	34	chr20	45857313	.	C	CATCT	4857.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.298;DP=879;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.32;ReadPosRankSum=0.126;SOR=0.691	GT:AD:DP:GQ:PL	0/1:38,38:76:99:1481,0,1481	18	0	3	0
chr20	47636547	47636547	G	A	exonic	NCOA3	.	nonsynonymous SNV	NCOA3:NM_001174087:exon12:c.G2161A:p.V721I	.	.	413	1104	4	1	0	6	0.00271003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.126	B	0.041	B	0.066	N	1.000	N	0	N	4.65	T	-0.909	T	0.004	T	0.066	-0.178	3.131	0.235	0.308	0.364	.	0.018	0.00219970689849	.	.	0.0003	0	0.0004	0	0	4.5e-05	0	0.0016	0.0002652	41	154602	rs202242711	0.0002	0.0002	0.0001	0.0002	0.0023	0.0002	0.0001	0.0015	0.0014	0	0.0004	0	0	0	0.0023	4.137e-05	0.0004	0.0018	0.0002	0.0002	0.0002	0.0001	0.0010	0.0001	9.233e-05	0.0004	0.0003	2.405e-05	0	0.0004	0	0.0008	0	0	0.0001	0	0.0010	0.058	0.39097	T	0.605	0.14075	T	0.04	0.26920	B	0.041	0.23986	B	0.065718	0.21861	N	0.450892	1	0.08975	N	2.175	0.60977	M	4.65	0.02067	T	-0.28	0.11547	N	0.078	0.08506	-0.9090	0.46977	T	0.004	0.01295	T	9	0.0076572	0.00174	T	0.002	0.04151	T	0.018	0.03083	0.22	0.14224	0.261638197198	0.25763	0.03437927736937327	0.03385	0.0913593287264	0.10321	0.32788926363	0.14615	T	0.061972	0.31793	T	-0.646171	0.00076	T	-0.70822	0.05388	T	0.0218595428231022	0.00893	T	0.592541	0.21854	T	0.0687615	0.15006	0.07461676	0.16342	0.0687615	0.15006	0.07461676	0.16342	-4.219	0.28858	T	.	.	0.070	0.03849	B	.;.;.	.;.;.	0.884267	0.12578	9.103	0.92699607453552291	0.22191	0.55770	0.29948	D	AEFBI	0.048966	0.08410	N	-1.02015311416312	0.08186	0.3829465	-1.06305179703462	0.08437	0.414837	0.0105967369730399	0.12050	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	0.235	0.235	0.14697	0.365000	0.20076	0.677000	0.20646	0.373000	0.20310	0.142000	0.23535	0.009000	0.19889	0.960000	0.51673	.	.	.	124	0.95048	.;.;.	.	.	.	.	.	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	2138.98	37	chr20	47636547	.	G	A	2138.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.767e+00;DP=895;ExcessHet=0.0000;FS=1.885;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=-7.850e-01;SOR=0.863	GT:AD:DP:GQ:PL	0/1:100,83:183:99:2153,0,2828	20	0	1	0
chr20	47663617	47663617	C	T	exonic	SULF2	.	nonsynonymous SNV	SULF2:NM_001161841:exon16:c.G2063A:p.G688D	.	.	424	1091	7	0	0	7	0.00319781	.	.	705528	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.33	T	0.001	B	0.009	B	0.020	N	0.948	D	0.895	L	1.92	T	-1.090	T	0.046	T	0.359	2.896	15.65	4.87	2.768	5.716	13.204	0.035	0.00461160344733	.	0.000199681	0.0006	0	0.0003	0.0001	0	0.0002	0.0012	0.0038	0.0005045	78	154602	rs145659660	0.0003	0.0003	0.0002	0.0004	0.0032	0.0003	0.0003	0.0029	0.0027	0	0.0005	8.212e-05	2.536e-05	0	0.0028	0.0001	0.0005	0.0032	0.0003	0.0003	0.0003	0.0003	0.0031	0.0002	0.0002	0.0019	0.0015	4.81e-05	0	0.0003	0	0	0	0.0034	0.0003	0	0.0031	0.122	0.27663	T	0.631	0.07173	T	0.0	0.07471	B	0.001	0.14300	B	0.020329	0.27062	N	0.451659	0.947828	0.37584	D	0.895	0.22405	L	1.92	0.23082	T	-1.03	0.27052	N	0.486	0.52029	-1.0897	0.05582	T	0.046	0.19839	T	10	0.008715332	0.00197	T	0.004612	0.11409	T	0.035	0.08770	.	.	0.0675242888579	0.06100	0.4227411365284318	0.42191	0.498469256429	0.48318	0.66296517849	0.61833	T	0.061433	0.31651	T	-0.438558	0.01319	T	-0.405156	0.32784	T	0.0228760598089499	0.01009	T	0.838616	0.52386	T	0.17905654	0.38958	0.1872262	0.41941	0.17905654	0.38957	0.1872262	0.41940	-1.009	0.01010	T	.	.	0.148	0.33016	B	.;.;.	.;.;.	3.512544	0.49200	22.7	0.9892619388384104	0.48657	0.94782	0.62311	D	AEFDGBHCI	0.821135	0.74176	D	-0.022487746081448	0.40838	2.432233	0.187555122567379	0.49163	3.122963	0.999999999921334	0.74766	0.722319	0.85440	0	0.552637	0.17590	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.84	4.87	0.62877	5.859000	0.69288	4.254000	0.42773	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.579000	0.30870	0.0:0.6182:0.3818:0.0	13.204	0.59207	124	0.95048	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	904.98	36	chr20	47663617	.	C	T	904.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.588e+00;DP=842;ExcessHet=0.0000;FS=0.855;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=0.470;SOR=0.818	GT:AD:DP:GQ:PL	0/1:40,38:78:99:919,0,1120	20	0	1	0
chr20	51516834	51516834	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1222C:p.G408R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.035	M	-0.72	T	0.381	D	0.611	D	0.955	5.001	29.4	5.25	2.455	7.813	18.871	0.887	0.291469148357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.619e-05	0.0007	0.0001	7.042e-05	0.0001	8.278e-05	7.817e-05	9.981e-05	9.381e-05	6.002e-05	0	0	5.044e-05	0	0	0.0001	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	-0.72	0.72994	T	-7.31	0.94511	D	0.952	0.97095	0.381	0.88810	D	0.611	0.86246	D	10	0.92848086	0.92191	D	0.291469	0.90578	D	0.887	0.96725	0.754	0.88402	0.90210233382	0.90113	0.8239515636362394	0.82352	1.30562062205	0.83120	0.866135060787	0.92011	D	0.671936	0.90273	D	0.39566	0.89663	D	0.330562	0.89533	D	0.997253000736237	0.91125	D	0.999394	0.99801	D	0.9024346	0.91602	0.87273586	0.93055	0.9024346	0.91603	0.87273586	0.93056	-12.284	0.86643	D	.	.	1.0	0.99952	P	.;.;.;.;.;.	.;.;.;.;.;.	5.540515	0.91959	32	0.99941663280488358	0.99797	0.98728	0.86094	D	AEFDBHI	0.897828	0.84044	D	0.916431156634983	0.92541	11.483	0.851822094425726	0.93121	11.83822	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3182	1110.73	33	chr20	51516834	.	C	G	1110.73	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.139e+00;DP=1283;ExcessHet=2.5830;FS=294.373;InbreedingCoeff=-0.4045;MLEAC=10;MLEAF=0.455;MQ=60.00;MQRankSum=0.00;QD=2.00;ReadPosRankSum=-4.600e-02;SOR=10.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,23:82:99:.:.:166,0,1001	4	0	7	10
chr20	60012548	60012548	C	G	exonic	CDH26	.	nonsynonymous SNV	CDH26:NM_001348204:exon4:c.C193G:p.L65V	.	.	427	1051	43	1	0	45	0.0209595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.998	D	0.915	D	.	.	1.000	N	.	.	0.32	T	-0.632	T	0.438	T	0.166	1.988	12.60	2.74	1.135	0.375	7.254	0.119	.	0.0018	0.00798722	0.0054	0.0002	0.0010	0	0	0.0021	0.0077	0.03	0.0049223	761	154602	rs142001408	0.0029	0.0029	0.0021	0.0036	0.0269	0.0028	0.0028	0.0259	0.0256	0.0002	0.0011	0.0020	5.039e-05	9.36e-05	0.0106	0.0014	0.0026	0.0269	0.0019	0.0019	0.0015	0.0023	0.0270	0.0017	0.0017	0.0232	0.0218	0.0003	0	0.0006	0.0017	0.0002	0	0.0136	0.0019	0.0028	0.0270	0.691	0.36709	T	0.237	0.92824	T	0.998	0.73220	D	0.88	0.65091	P	.	.	.	.	1	0.08975	N	.	.	.	0.32	0.75911	T	-0.29	0.32991	N	0.062	0.17278	-0.6323	0.63473	T	0.438	0.77708	T	8	0.0040251613	0.00078	T	.	.	.	0.119	0.33137	.	.	0.280181792013	0.27631	0.1316821982360792	0.13093	0.369338729039	0.38458	0.251678436995	0.03947	T	.	.	.	-0.45362	0.01075	T	-0.403421	0.32988	T	0.016949572632361	0.00446	T	0.468753	0.13831	T	0.054678217	0.10523	0.05006095	0.07778	0.054678217	0.10522	0.05006095	0.07778	-3.895	0.27327	T	.	.	0.079	0.24329	B	.;.;.	.;.;.	0.472862	0.08423	5.181	0.98745391950640393	0.45572	0.09523	0.15260	N	AEFDBCI	0.056347	0.10411	N	-0.307637999369078	0.28858	1.595234	-0.510783118436354	0.21860	1.184581	0.14143907576024	0.17280	0.549168	0.22868	0	0.547309	0.14657	0	0.590023	0.30420	0	0.564101	0.26826	0	.	.	3.68	2.74	0.31352	0.200000	0.17055	0.456000	0.18569	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.8791:0.0:0.1209	7.254	0.25339	983	0.02875	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	899.98	34	chr20	60012548	.	C	G	899.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.003e+00;DP=768;ExcessHet=0.0000;FS=4.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=1.09;SOR=0.303	GT:AD:DP:GQ:PL	0/1:34,38:72:99:914,0,1024	20	0	1	0
chr20	62813277	62813277	A	0	exonic	OGFR	.	.	.	.	.	523	886	20	13	80	126	0.0253025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	2213.86	12	chr20	62813277	.	A	*,G	2213.86	.	AC=3,6;AF=0.079,0.158;AN=38;BaseQRankSum=-1.555e+00;DP=527;ExcessHet=0.1022;FS=5.579;InbreedingCoeff=0.2459;MLEAC=2,7;MLEAF=0.053,0.184;MQ=54.26;MQRankSum=0.052;QD=19.25;ReadPosRankSum=-3.440e-01;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:6,0,7:13:99:0|1:62813277_A_G:259,277,519,0,241,220:62813277	12	1	1	2
chr20	62813313	62813313	G	0	exonic	OGFR	.	.	.	.	.	901	501	16	13	91	133	0.0402299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4091	2484.09	12	chr20	62813313	.	G	A,*	2484.09	.	AC=6,3;AF=0.273,0.136;AN=22;BaseQRankSum=1.18;DP=455;ExcessHet=0.3267;FS=2.908;InbreedingCoeff=0.1128;MLEAC=9,3;MLEAF=0.409,0.136;MQ=53.32;MQRankSum=-1.420e-01;QD=23.00;ReadPosRankSum=0.217;SOR=1.040	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,10,0:15:99:0|1:62813277_A_G:405,0,180,420,210,630:62813277	4	1	4	10
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S,	.	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	1.0	D	0.937	D	.	.	1.000	N	1.445	L	1.66	T	-0.997	T	0.095	T	0.13	0.280	5.514	-0.732	-0.424	-1.528	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	80837.62	225	chr21	13610565	.	G	A	80837.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.08;DP=4336;ExcessHet=0.5132;FS=0.571;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=53.68;MQRankSum=-8.647e+00;QD=20.17;ReadPosRankSum=-1.350e-01;SOR=0.768	GT:AD:DP:GQ:PL	0/1:155,160:315:99:4266,0,3884	6	6	9	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V,	.	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	P	-1.67	N	0.69	T	-1.046	T	0.001	T	0.1	-2.566	0.003	-2.58	-1.089	-2.921	5.628	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	59193.62	215	chr21	13610631	.	A	G	59193.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.130e-01;DP=3704;ExcessHet=0.5132;FS=4.353;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=48.41;MQRankSum=-1.386e+01;QD=17.52;ReadPosRankSum=0.974;SOR=1.008	GT:AD:DP:GQ:PL	0/1:152,128:280:99:3083,0,3961	6	6	9	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V,	.	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.053	B	0.007	B	.	.	1.000	N	1.335	L	2.51	T	-0.946	T	0.021	T	0.32	0.122	4.658	2.1	0.975	1.396	3.884	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	43117.62	207	chr21	13641414	.	A	G	43117.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.110e+00;DP=2761;ExcessHet=0.5132;FS=0.565;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=58.03;MQRankSum=-1.526e+00;QD=17.27;ReadPosRankSum=0.159;SOR=0.606	GT:AD:DP:GQ:PL	0/1:122,86:208:99:1931,0,3365	6	6	9	0
chr21	14381318	14381318	C	T	exonic	HSPA13	.	nonsynonymous SNV	HSPA13:NM_006948:exon2:c.G251A:p.S84N,	.	.	.	.	.	.	.	.	.	.	.	2437839	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.491	P	0.322	B	0.000	D	1.000	D	0.345	N	5.42	T	-0.341	T	0.004	T	0.152	3.462	17.73	4.76	2.691	3.426	15.485	0.198	0.0343213790526	0.0003	.	3.295e-05	0.0004	0	0	0	0	0	0	2.59e-05	4	154602	rs144611864	1.231e-05	1.231e-05	1.225e-05	1.238e-05	0.0004	7.7e-06	6.35e-06	0.0003	0.0002	0.0004	4.472e-05	0	0	0	0	0	1.656e-05	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0004	7.578e-05	6.282e-05	0.0003	0.0002	0.0004	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.491	0.36960	P	0.322	0.41795	B	0.000001	0.84330	D	0.126763	0.640171	0.81001	D	1.24	0.30952	L	5.42	0.00999	T	-2.31	0.51319	N	0.619	0.63459	-0.3410	0.73814	T	0.004	0.01226	T	10	0.45613265	0.59000	T	0.034321	0.55594	D	0.198	0.48105	.	.	0.512192450023	0.50859	0.8931103184075242	0.89281	0.416855319736	0.42318	0.486166894436	0.36908	T	0.150097	0.48941	T	-0.408216	0.02043	T	-0.507995	0.21521	T	0.268533538772329	0.23684	T	0.886111	0.61235	D	0.6568261	0.75729	0.6253699	0.78163	0.6568261	0.75730	0.6253699	0.78164	-8.963	0.67458	D	.	.	0.821	0.78279	P	.	.	4.004900	0.59035	24.1	0.99209334251507741	0.55533	0.83402	0.42522	D	AEFBCI	0.398667	0.47425	N	0.161862460448573	0.49374	3.138618	0.309453809205289	0.56094	3.772405	0.999999852455274	0.74766	0.660085	0.49399	0	0.685571	0.66316	0	0.685571	0.62057	0	0.651492	0.60203	0	.	.	5.7	4.76	0.60189	3.479000	0.52928	5.743000	0.49584	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.1391:0.8609:0.0:0.0	15.485	0.75289	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1903.98	33	chr21	14381318	.	C	T	1903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.114e+00;DP=925;ExcessHet=0.0000;FS=4.174;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.87;ReadPosRankSum=-7.350e-01;SOR=0.794	GT:AD:DP:GQ:PL	0/1:112,81:193:99:1918,0,2941	20	0	1	0
chr21	30372155	30372155	C	T	exonic	KRTAP13-2	.	nonsynonymous SNV	KRTAP13-2:NM_181621:exon1:c.G59A:p.R20H,	.	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.008	B	0.015	B	0.498	N	1.000	N	1.515	L	4.12	T	-0.932	T	0.006	T	0.049	-1.181	0.083	-5.38	-1.931	-3.123	8.668	0.017	.	.	0.00459265	0.0022	0.0004	0.0004	0.0080	0	4.5e-05	0.0011	0.0113	0.0009605	25	26028	rs146985381	0.0003	0.0005	0.0002	0.0003	0.0045	0.0002	0.0002	0.0040	0.0038	2.988e-05	0.0005	0	0.0045	0	0.0002	4.497e-05	0.0004	0.0011	0.0004	0.0004	0.0003	0.0004	0.0081	0.0003	0.0003	0.0062	0.0055	9.633e-05	0	0.0003	0	0.0081	0	0	8.822e-05	0	0	0.573	0.06125	T	0.547	0.09522	T	0.008	0.14655	B	0.015	0.17295	B	0.498224	0.05076	N	1.384710	1	0.08975	N	1.245	0.31408	L	4.12	0.02891	T	-1.22	0.30964	N	0.029	0.00666	-0.9319	0.43859	T	0.006	0.02168	T	10	0.00526163	0.00115	T	.	.	.	0.017	0.02790	.	.	0.0666544352282	0.05500	0.03280679048607703	0.03228	0.041224094407	0.04422	0.185662031174	0.00158	T	0.004361	0.03768	T	-0.75937	0.00015	T	-0.854164	0.00909	T	0.0107202127752488	0.00151	T	0.0826917	0.00607	T	0.022111395	0.00853	0.02959247	0.01315	0.022111395	0.00853	0.02959247	0.01315	-5.511	0.41971	T	.	.	0.067	0.02578	B	.	.	-0.698646	0.01324	0.072	0.45497395088511539	0.03575	0.00379	0.01920	N	AEFGI	0.038221	0.05377	N	-1.61840347795334	0.01176	0.05109043	-1.73686856580277	0.00984	0.04407105	0.00870166750117165	0.11725	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.42	-5.38	0.02465	-3.495000	0.00503	-6.817000	0.01299	-1.989000	0.00456	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3444:0.1055:0.5501	8.668	0.33296	213	0.91726	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1190.98	41	chr21	30372155	.	C	T	1190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.311e+00;DP=1455;ExcessHet=0.0000;FS=0.793;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.12;MQRankSum=-1.491e+01;QD=2.57;ReadPosRankSum=3.76;SOR=0.737	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:403,60:463:99:0|1:30372155_C_T:1205,0,16507:30372155	20	0	1	0
chr21	30372164	30372164	T	C	exonic	KRTAP13-2	.	nonsynonymous SNV	KRTAP13-2:NM_181621:exon1:c.A50G:p.D17G,	.	.	427	1093	2	0	0	2	0.000914077	.	.	3445761	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.294	N	1.000	N	-2.045	N	4.15	T	-0.944	T	0.002	T	0.06	-2.682	0	-1.27	-0.424	-0.319	3.276	0.015	.	.	.	0.0016	0.0002	0	0.0003	0	0	0.0011	0.0111	3.84e-05	1	26028	rs747174722	3.012e-05	0.0003	6.809e-06	5.368e-05	0.0004	2.283e-05	2.034e-05	0.0003	0.0003	0	2.236e-05	0	0	0	0	8.993e-07	8.291e-05	0.0004	6.573e-06	1.313e-05	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.294335	0.14711	N	0.547266	1	0.08975	N	-2.76	0.00027	N	4.15	0.02815	T	3.14	0.00122	N	0.064	0.03613	-0.9438	0.42009	T	0.002	0.00556	T	10	0.0061333776	0.00138	T	.	.	.	0.015	0.02232	.	.	0.136095386433	0.13204	0.030010210120371784	0.02950	0.0421925499433	0.04548	0.256064206362	0.04433	T	0.001108	0.00619	T	-0.414471	0.01857	T	-0.833135	0.01208	T	0.0470627332758289	0.04976	T	0.0281972	0.00174	T	0.039171223	0.05359	0.039882857	0.04183	0.039171223	0.05359	0.039882857	0.04183	-1.42	0.01608	T	.	.	0.048	0.00096	B	.	.	-0.354506	0.02388	0.264	0.34407159458628483	0.02103	0.00071	0.00499	N	AEFGI	0.025255	0.01700	N	-1.71428917408364	0.00792	0.0342334	-1.63714447383078	0.01444	0.06529823	6.15448951348073E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.1	-1.27	0.08863	-0.239000	0.08983	-3.703000	0.02594	-0.258000	0.06954	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3062:0.4127:0.0:0.2811	3.276	0.06493	213	0.91726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1066.98	41	chr21	30372164	.	T	C	1066.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.277e+00;DP=1453;ExcessHet=0.0000;FS=1.817;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.27;MQRankSum=-1.427e+01;QD=2.30;ReadPosRankSum=3.70;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:408,55:463:99:0|1:30372155_C_T:1081,0,16654:30372155	20	0	1	0
chr21	30396162	30396162	T	C	exonic	KRTAP13-1	.	nonsynonymous SNV	KRTAP13-1:NM_181599:exon1:c.T76C:p.C26R,	.	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.021	B	0.062	B	0.062	N	1.000	D	1.795	L	4.08	T	-1.040	T	0.016	T	0.654	0.836	8.375	4.45	2.219	0.982	12.347	0.194	.	.	0.00379393	0.0012	9.61e-05	0	0.0001	0	0	0	0.0088	0.00073	19	26028	rs537703646	0.0006	0.0007	0.0004	0.0009	0.0093	0.0006	0.0006	0.0088	0.0085	8.961e-05	2.236e-05	0	0.0002	0	0.0007	7.194e-06	0.0012	0.0093	0.0004	0.0004	0.0002	0.0007	0.0116	0.0003	0.0003	0.0092	0.0083	2.406e-05	0	0.0001	0	0.0008	0	0	0	0.0005	0.0116	0.09	0.31987	T	0.081	0.41742	T	0.021	0.18474	B	0.062	0.26930	B	0.062423	0.22098	N	0.321942	0.999699	0.48338	D	2.835	0.82492	M	4.08	0.03003	T	-9.98	0.98796	D	0.692	0.69737	-1.0405	0.17162	T	0.016	0.06569	T	10	0.009869814	0.00221	T	.	.	.	0.194	0.47447	.	.	0.128392430309	0.12331	0.0406065942378191	0.04005	0.564248738431	0.52819	0.374484479427	0.21473	T	0.022421	0.17287	T	-0.0746959	0.40573	T	-0.345072	0.39769	T	0.0920602985593697	0.11460	T	0.134287	0.01062	T	0.66437197	0.76132	0.7107628	0.82938	0.66437197	0.76133	0.7107628	0.82939	-8.885	0.66953	D	.	.	0.112	0.21877	B	.	.	2.316990	0.29664	18.19	0.85588322715200726	0.15987	0.84506	0.43588	D	AEFI	0.191780	0.31896	N	-0.292589799790307	0.29434	1.632188	-0.239531373685354	0.30134	1.694061	0.120951921951306	0.16880	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.45	4.45	0.53365	0.603000	0.23848	0.075000	0.14313	0.580000	0.29708	0.666000	0.28313	0.001000	0.17328	0.455000	0.28006	0.0:0.0:0.0:1.0	12.347	0.54450	210	0.91826	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4671.98	37	chr21	30396162	.	T	C	4671.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.400e-02;DP=1068;ExcessHet=0.0000;FS=2.410;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.74;MQRankSum=-1.373e+01;QD=13.90;ReadPosRankSum=-2.271e+00;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,129:336:99:0|1:30396155_C_A:4686,0,8169:30396155	20	0	1	0
chr21	30396187	30396187	A	T	exonic	KRTAP13-1	.	nonsynonymous SNV	KRTAP13-1:NM_181599:exon1:c.A101T:p.Q34L,	.	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.354	N	1.000	N	-2.85	N	4.47	T	-0.927	T	0.001	T	0.141	-2.474	0.003	0.649	0.098	-0.336	4.346	0.049	.	.	0.00379393	0.0015	9.61e-05	0	0.0002	0	1.499e-05	0.0011	0.0109	0.0009221	24	26028	rs370876980	0.0006	0.0007	0.0004	0.0009	0.0093	0.0006	0.0006	0.0088	0.0085	8.961e-05	2.236e-05	0	0.0002	0	0.0005	8.093e-06	0.0013	0.0093	0.0004	0.0004	0.0002	0.0007	0.0116	0.0003	0.0003	0.0092	0.0083	2.406e-05	0	0.0001	0	0.0008	0	0	0	0.0005	0.0116	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.354247	0.13768	N	0.512935	1	0.08975	N	-3.605	0.00002	N	4.47	0.02084	T	5.5	0.00015	N	0.135	0.13198	-0.9274	0.44516	T	0.001	0.00408	T	10	0.003017962	0.00049	T	.	.	.	0.049	0.13647	.	.	0.24896430686	0.24499	0.023584122140482566	0.02310	0.202401542243	0.22661	0.232496082783	0.02158	T	0.001348	0.00816	T	-0.675177	0.00051	T	-0.74084	0.03855	T	0.03241884003284	0.02375	T	0.0480952	0.00344	T	0.047309842	0.08065	0.038361523	0.03688	0.047309842	0.08065	0.038361523	0.03687	-1.554	0.01878	T	.	.	0.048	0.00094	B	.	.	-0.433897	0.02088	0.195	0.14086058009113822	0.00299	0.00087	0.00582	N	AEFI	0.015573	0.00304	N	-1.72735526877971	0.00749	0.03235311	-1.58653110998937	0.01737	0.07900387	1.21039193811813E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.45	0.649	0.16979	-0.252000	0.08825	0.107000	0.14728	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.085000	0.17524	0.4584:0.0868:0.0:0.4548	4.346	0.10568	210	0.91826	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3660.98	37	chr21	30396187	.	A	T	3660.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.06;DP=1017;ExcessHet=0.0000;FS=4.171;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.93;MQRankSum=-1.492e+01;QD=12.67;ReadPosRankSum=-6.960e-01;SOR=0.944	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,103:289:99:0|1:30396185_C_T:3675,0,7404:30396185	20	0	1	0
chr21	30440460	30440460	T	A	exonic	KRTAP15-1	.	nonsynonymous SNV	KRTAP15-1:NM_181623:exon1:c.T133A:p.S45T,	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.973	D	0.899	P	0.027	N	1.000	N	2.265	M	3.97	T	-1.108	T	0.030	T	0.408	3.080	16.29	3.51	1.115	1.748	6.902	0.107	0.00424324631237	.	0.00179712	0.0006	0	0	0	0	0	0	0.0042	0.000511	79	154602	rs539329702	0.0002	0.0002	0.0001	0.0002	0.0028	0.0002	0.0002	0.0025	0.0024	0	0	0	0	0	0	8.993e-07	0.0004	0.0028	8.535e-05	8.531e-05	5.139e-05	0.0001	0.0027	4.953e-05	3.96e-05	0.0016	0.0013	0	0	0	0	0	0	0	0	0	0.0027	0.002	0.72154	D	0.078	0.42261	T	0.973	0.57599	D	0.899	0.63802	P	0.027439	0.25758	N	0.276731	1	0.08975	N	2.735	0.79925	M	3.97	0.03326	T	-2.92	0.61129	D	0.313	0.35301	-1.1083	0.03219	T	0.030	0.13067	T	10	0.024334073	0.00665	T	0.004243	0.10247	T	0.107	0.30369	0.863	0.95940	0.258283824007	0.25425	0.07156387971133599	0.07093	0.0317353606983	0.03287	0.30878508091	0.11723	T	0.176218	0.52608	T	-0.468362	0.00870	T	-0.446702	0.28062	T	0.231830977783323	0.22038	T	0.807219	0.45710	T	0.3614692	0.57948	0.31365642	0.57362	0.3614692	0.57949	0.31365642	0.57361	-4.275	0.27825	T	.	.	0.105	0.19357	B	.	.	1.969627	0.25023	16.61	0.98153839388403052	0.38713	0.15692	0.19036	N	AEFI	0.030907	0.03200	N	-0.00650833051490279	0.41560	2.488087	-0.208556034592533	0.31227	1.765316	1.14686263814857E-4	0.05269	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.66	3.51	0.39297	1.286000	0.32877	0.104000	0.14688	0.566000	0.28629	0.017000	0.19353	0.000000	0.08366	0.073000	0.16832	0.0:0.101:0.0:0.899	6.902	0.23469	247	0.90334	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3194.98	38	chr21	30440460	.	T	A	3194.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.445e+00;DP=1326;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.46;ReadPosRankSum=-2.050e-01;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,121:221:99:1|0:30440454_C_A:3209,0,3797:30440454	20	0	1	0
chr21	30497103	30497103	T	G	exonic	KRTAP19-4	.	nonsynonymous SNV	KRTAP19-4:NM_181610:exon1:c.A8C:p.Y3S,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.977	D	0.812	P	.	.	1.000	N	.	.	2.09	T	-1.072	T	0.083	T	0.431	-0.804	0.666	2.82	0.846	0.652	6.669	0.051	.	.	0.00399361	0.0019	0.0002	0	0.0005	0	0	0.0011	0.0135	0.0016623	257	154602	rs374028467	0.0008	0.0008	0.0004	0.0011	0.0112	0.0007	0.0007	0.0106	0.0104	0.0001	6.708e-05	0	0.0003	0	0.0007	1.079e-05	0.0017	0.0112	0.0005	0.0005	0.0002	0.0007	0.0126	0.0004	0.0003	0.0100	0.0091	2.416e-05	0	0.0002	0	0.0008	0	0	0	0.0005	0.0126	0.0	0.91255	D	0.031	0.53788	D	0.977	0.58535	D	0.812	0.58704	P	.	.	.	.	1	0.08975	N	.	.	.	2.09	0.20122	T	-8.1	0.96679	D	0.377	0.41853	-1.0716	0.09065	T	0.083	0.32671	T	8	0.0067730546	0.00154	T	.	.	.	0.051	0.14325	.	.	0.200317383148	0.19677	0.2565508879797129	0.25569	0.17131033113	0.19297	0.271837890148	0.06383	T	0.065614	0.32734	T	-0.4863	0.00681	T	-0.460281	0.26568	T	0.0906632486872694	0.11297	T	0.235876	0.03275	T	0.7716371	0.82147	0.6483363	0.79431	0.7716371	0.82148	0.6483363	0.79432	-7.872	0.60194	D	.	.	0.213	0.44174	B	.	.	1.606041	0.20528	14.79	0.59196947669218891	0.06168	0.11665	0.16783	N	AEFGI	0.039830	0.05838	N	-0.241918406365222	0.31428	1.76209	-0.450697231150138	0.23528	1.283592	2.05495308757004E-4	0.05948	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.0	2.82	0.32061	0.310000	0.19112	-0.415000	0.09322	0.609000	0.47794	0.001000	0.13787	0.000000	0.08366	0.025000	0.12405	0.211:0.0:0.0:0.789	6.669	0.22245	307	0.87649	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4200.98	40	chr21	30497103	.	T	G	4200.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.08;DP=1176;ExcessHet=0.0000;FS=1.821;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=-2.420e-01;SOR=0.800	GT:AD:DP:GQ:PL	0/1:174,162:336:99:4215,0,4334	20	0	1	0
chr21	30592606	30592606	T	A	exonic	KRTAP6-3	.	nonsynonymous SNV	KRTAP6-3:NM_181605:exon1:c.T161A:p.L54Q,	.	.	462	1058	2	0	0	2	0.000944287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.991	D	0.877	P	.	.	0.899	N	1.445	L	1.37	T	-1.003	T	0.130	T	0.488	-0.364	2.285	2.27	1.283	0.669	6.486	0.076	.	.	0.00459265	0.0021	9.628e-05	0	0.0005	0.0002	3.002e-05	0.0066	0.0144	0.001824	282	154602	rs375609643	0.0009	0.0009	0.0005	0.0012	0.0130	0.0008	0.0008	0.0123	0.0121	8.987e-05	8.982e-05	0	0.0003	0	0.0007	3.066e-05	0.0019	0.0130	0.0005	0.0005	0.0002	0.0008	0.0138	0.0004	0.0004	0.0112	0.0102	2.424e-05	0	0.0002	0	0.0008	0	0	0	0	0.0138	.	.	.	0.241	0.24334	T	.	.	.	.	.	.	.	.	.	.	0.89871	0.27743	N	.	.	.	0.92	0.44461	T	-3.0	0.62343	D	0.45	0.48780	-1.0026	0.29168	T	0.130	0.44028	T	9	0.004766643	0.00101	T	.	.	.	0.076	0.22200	.	.	0.449060428229	0.44526	0.02419555607065345	0.02370	0.0567399249057	0.06275	.	.	.	.	.	.	-0.48543	0.00688	T	-0.458387	0.26776	T	0.0513611771785146	0.05738	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.39339	B	.	.	0.566876	0.09356	6.135	0.72902039138210872	0.10136	0.08455	0.14382	N	AEFI	0.077317	0.15574	N	-0.0926045225423308	0.37716	2.198326	-0.27426957154092	0.28948	1.618076	1.4780403091752E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.27	2.27	0.27501	0.147000	0.16021	0.536000	0.19291	0.546000	0.25710	0.150000	0.23655	0.003000	0.18671	0.002000	0.04165	0.0:0.0:0.0:1.0	6.486	0.21287	518	0.74548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2752.98	37	chr21	30592606	.	T	A	2752.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.420e-01;DP=1093;ExcessHet=0.0000;FS=0.622;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.52;ReadPosRankSum=2.81;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,73:141:99:1|0:30592597_A_C:2767,0,2586:30592597	20	0	1	0
chr21	30592609	30592609	A	G	exonic	KRTAP6-3	.	nonsynonymous SNV	KRTAP6-3:NM_181605:exon1:c.A164G:p.D55G,	.	.	460	1055	7	0	0	7	0.00330657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	-1.585	N	1.47	T	-1.019	T	0.021	T	0.164	-0.125	3.388	2.41	0.580	-0.102	5.444	0.066	.	.	0.00479233	0.0021	0.0003	0.0002	0.0005	0.0002	3.003e-05	0.0066	0.0144	0.0018628	288	154602	rs13433449	0.0009	0.0009	0.0005	0.0013	0.0130	0.0009	0.0008	0.0124	0.0122	0.0002	0.0001	0	0.0003	0	0.0007	3.079e-05	0.0019	0.0130	0.0005	0.0005	0.0002	0.0008	0.0140	0.0004	0.0004	0.0113	0.0103	9.781e-05	0	0.0002	0	0.0008	0	0	0	0	0.0140	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	0.999871	0.19925	N	.	.	.	.	.	.	.	.	.	0.113	0.10056	-1.0194	0.23910	T	0.021	0.08686	T	9	0.0076227784	0.00173	T	.	.	.	0.066	0.19193	.	.	0.043077524339	0.03247	0.0829687337200552	0.08231	0.0683271199715	0.07650	.	.	.	.	.	.	-0.566246	0.00233	T	-0.574473	0.15043	T	0.00781776708804724	0.00092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.02993	B	.	.	0.245900	0.06257	2.711	0.74867231936353107	0.10857	0.00008	0.00134	N	AEFI	0.015307	0.00285	N	-1.14393770892306	0.05880	0.2692367	-1.03830919084909	0.08951	0.4427651	2.92796079070284E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.41	2.41	0.28644	0.327000	0.19408	2.931000	0.35616	-0.296000	0.06234	0.014000	0.18986	0.988000	0.31051	0.001000	0.02609	0.1681:0.0:0.8319:0.0	5.444	0.15822	518	0.74548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2755.98	37	chr21	30592609	.	A	G	2755.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.390e-01;DP=1094;ExcessHet=0.0000;FS=1.321;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.69;ReadPosRankSum=2.53;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,73:140:99:1|0:30592597_A_C:2770,0,2564:30592597	20	0	1	0
chr21	30598751	30598751	G	A	exonic	KRTAP6-2	.	nonsynonymous SNV	KRTAP6-2:NM_181604:exon1:c.C124T:p.H42Y,	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	.	.	3.45	T	-0.974	T	0.015	T	0.249	0.604	7.255	2.85	0.357	1.350	5.625	0.059	.	.	0.00459265	0.0020	9.628e-05	0	0.0002	0.0002	2.998e-05	0.0066	0.0143	0.001824	282	154602	rs112952516	0.0009	0.0009	0.0005	0.0012	0.0129	0.0008	0.0008	0.0123	0.0120	0.0002	8.946e-05	0	0.0001	0	0.0007	2.984e-05	0.0020	0.0129	0.0005	0.0005	0.0002	0.0008	0.0141	0.0004	0.0004	0.0114	0.0104	2.422e-05	0	0.0001	0	0.0006	0	0	0	0	0.0141	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	3.45	0.05311	T	-0.5	0.15782	N	0.18	0.19459	-0.9736	0.36431	T	0.015	0.05897	T	8	0.0051817894	0.00113	T	.	.	.	0.059	0.16972	.	.	0.107399877778	0.10242	0.015538050979433152	0.01509	0.0715753465514	0.08012	.	.	.	0.01037	0.09369	T	-0.592935	0.00161	T	-0.61281	0.11758	T	0.0184363068493512	0.00560	T	.	.	.	0.111112125	0.26259	0.117123134	0.28273	0.111112125	0.26259	0.117123134	0.28273	-0.787	0.00792	T	.	.	0.041	0.00020	B	.	.	1.334032	0.17395	13.14	0.81153189052608099	0.13545	0.00100	0.00648	N	AEFI	0.018262	0.00541	N	-0.535719204685375	0.20933	1.10725	-0.459896714976719	0.23268	1.268041	2.08760822122799E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.0	2.85	0.32333	2.379000	0.43973	4.159000	0.42198	-0.057000	0.16691	0.972000	0.34453	0.567000	0.25551	0.038000	0.14061	0.779:0.0:0.221:0.0	5.625	0.16759	523	0.74147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2468.98	35	chr21	30598751	.	G	A	2468.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.496e+00;DP=865;ExcessHet=0.0000;FS=0.591;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.15;ReadPosRankSum=-2.670e-01;SOR=0.779	GT:AD:DP:GQ:PL	0/1:70,93:163:99:2483,0,1781	20	0	1	0
chr21	37195684	37195684	G	A	exonic	TTC3	.	nonsynonymous SNV	TTC3:NM_001353938:exon32:c.G3061A:p.E1021K	.	.	427	1091	4	0	0	4	0.00182983	.	.	728908	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.9	T	0.001	B	0.0	B	0.617	N	1.000	N	-0.49	N	3.17	T	-1.008	T	0.019	T	0.44	-0.005	3.991	-9.44	-1.862	-3.876	8.235	0.021	0.00360762820522	0.0032	0.00279553	0.0027	0.0011	0.0048	0	0.0012	0.0031	0	0.0026	0.0025485	394	154602	rs138008526	0.0046	0.0046	0.0047	0.0046	0.0054	0.0045	0.0045	0.0053	0.0052	0.0009	0.0037	0.0003	0	0.0016	0.0017	0.0054	0.0040	0.0025	0.0028	0.0028	0.0030	0.0025	0.0044	0.0025	0.0024	0.0040	0.0038	0.0010	0	0.0034	0.0003	0	0.0008	0	0.0044	0.0019	0.0027	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.0	0.01387	B	0.616939	0.05733	N	1.254910	1	0.08975	N	0.235	0.09667	N	3.17	0.07599	T	-0.39	0.13611	N	0.039	0.02559	-1.0077	0.27634	T	0.019	0.07893	T	10	0.003068477	0.00051	T	0.003608	0.08278	T	0.099	0.28413	.	.	0.214338557667	0.21045	0.22078989386746364	0.21993	0.100001510796	0.11303	0.20738145709	0.00705	T	0.011327	0.10120	T	-0.582074	0.00187	T	-0.60807	0.12142	T	0.00448366906002296	0.00048	T	0.587941	0.21519	T	0.01894353	0.00419	0.027596874	0.00925	0.01894353	0.00418	0.027596874	0.00925	-4.519	0.31136	T	.	.	0.071	0.03887	B	.;.;.	.;.;.	-1.881199	0.00132	0.002	0.70692747042833903	0.09379	0.00248	0.01370	N	AEFDBI	0.026525	0.02006	N	-1.4570736025618	0.02161	0.09515214	-1.64054273714929	0.01426	0.06445449	0.999999990561055	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.714379	0.83352	0	.	.	4.72	-9.44	0.00509	-3.580000	0.00474	-9.680000	0.00790	-1.595000	0.00900	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5857:0.2907:0.1236:0.0	8.235	0.30780	896	0.25515	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1172.98	33	chr21	37195684	.	G	A	1172.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.15;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.23;ReadPosRankSum=1.14;SOR=0.701	GT:AD:DP:GQ:PL	0/1:33,44:77:99:1187,0,688	20	0	1	0
chr21	39178608	39178608	T	C	exonic	PSMG1	.	nonsynonymous SNV	PSMG1:NM_203433:exon4:c.A433G:p.I145V	.	.	432	1089	1	0	0	1	0.000458926	.	.	728911	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.77	T	0.0	B	0.002	B	0.183	N	1.000	N	0.345	N	1.91	T	-0.981	T	0.009	T	0.042	-0.725	0.894	-4.33	-0.645	-0.985	8.980	0.012	.	0.0082	0.00798722	0.0024	0.0279	0.0003	0	0	4.496e-05	0	6.056e-05	0.0022962	355	154602	rs8131611	0.0008	0.0008	0.0009	0.0007	0.0284	0.0007	0.0007	0.0269	0.0263	0.0284	0.0008	0	0	0	0.0010	2.878e-05	0.0016	0.0001	0.0081	0.0081	0.0084	0.0078	0.0288	0.0077	0.0076	0.0275	0.0269	0.0288	0	0.0014	0	0	0	0	1.47e-05	0.0052	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.182956	0.17053	N	0.628105	0.999912	0.19599	N	-0.055	0.04927	N	1.91	0.23283	T	-0.34	0.12661	N	0.089	0.07535	-0.9810	0.34771	T	0.009	0.03140	T	10	0.0061393976	0.00138	T	.	.	.	0.012	0.01476	.	.	0.0806252709748	0.07271	0.2116315913369507	0.21079	0.170836672464	0.19251	0.325885295868	0.14312	T	0.066264	0.32901	T	-0.709263	0.00032	T	-0.767209	0.02861	T	0.00301760686785274	0.00032	T	0.674733	0.28305	T	0.013160048	0.00051	0.023980008	0.00412	0.013160048	0.00051	0.023980008	0.00412	-2.913	0.09274	T	.	.	0.064	0.03773	B	.;.	.;.	-0.547649	0.01720	0.127	0.49323233301858926	0.04190	0.03298	0.08353	N	AEFBI	0.084452	0.17116	N	-1.22490543308364	0.04641	0.2098872	-1.21405112617455	0.05683	0.2714864	0.999954525553485	0.48110	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.5	-4.33	0.03423	-0.975000	0.03900	-5.714000	0.01621	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.0:0.5005:0.1269:0.3726	8.980	0.35123	956	0.09877	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	677.98	33	chr21	39178608	.	T	C	677.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.732;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=0.390;SOR=0.602	GT:AD:DP:GQ:PL	0/1:24,25:49:99:692,0,671	20	0	1	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.991	D	0.635	P	0.000	D	0.999	D	2.015	M	1.75	T	-1.041	T	0.094	T	0.604	2.253	13.49	4.65	1.348	2.166	10.542	0.184	0.0154551292841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.655e-05	0.0018	8.339e-05	4.965e-05	7.588e-05	5.548e-05	5.15e-05	6.221e-05	5.689e-05	6.157e-05	0	0	2.542e-05	0	0	7.588e-05	0.0001	2.345e-05	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.39575	T	0.008	0.69154	D	0.991	0.64070	D	0.635	0.51908	P	0.000159	0.49130	D	0.177285	0.997695	0.47157	D	.	.	.	1.75	0.26301	T	-3.35	0.67241	D	0.495	0.52829	-1.0406	0.17132	T	0.094	0.35578	T	10	0.36435574	0.52982	T	0.015455	0.36203	T	0.184	0.45763	0.5	0.59147	0.412715890961	0.40891	0.48026109495753466	0.47946	0.939492545994	0.72166	0.386622190475	0.23192	T	0.11001	0.42436	T	-0.0654905	0.42045	T	-0.331849	0.41263	T	0.957460343837738	0.65017	D	0.80112	0.44691	T	0.13993374	0.32304	0.19344127	0.42913	0.13993374	0.32304	0.19344127	0.42912	-4.866	0.35351	T	.	.	0.297	0.52720	B	.;.	.;.	3.167608	0.42947	21.6	0.98968893955553749	0.49481	0.97817	0.77351	D	AEFGBCI	0.178683	0.30595	N	0.120232727473123	0.47407	2.966873	0.0765168796991302	0.43369	2.640186	0.999806047820681	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.65	0.57626	2.712000	0.46854	2.536000	0.33191	-0.193000	0.09282	0.998000	0.41325	0.990000	0.31317	0.261000	0.23543	0.0:0.9112:0.0:0.0888	10.542	0.44226	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2368	698.27	35	chr21	41918930	.	C	G	698.27	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.341e+00;DP=1542;ExcessHet=4.7172;FS=85.931;InbreedingCoeff=-0.3046;MLEAC=9;MLEAF=0.237;MQ=60.00;MQRankSum=0.00;QD=0.89;ReadPosRankSum=0.977;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,8:77:79:0|1:41918930_C_G:79,0,2821:41918930	10	0	9	2
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.026	B	0.018	B	0.000	N	0.966	N	1.01	L	1.63	T	-1.066	T	0.041	T	0.356	0.961	8.923	-3.89	-0.592	-2.108	7.143	0.072	0.00492569628037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.451e-05	0.0016	7.555e-05	5.341e-05	7.873e-05	5.358e-05	4.967e-05	6.511e-05	5.999e-05	6.098e-05	0	0	0	0	0	7.873e-05	6.752e-05	1.17e-05	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.236	0.18061	T	0.601	0.07919	T	0.026	0.19406	B	0.018	0.18489	B	0.000050	0.53742	N	0.125982	0.99197	0.25906	N	.	.	.	1.63	0.29342	T	-1.04	0.27259	N	0.215	0.24010	-1.0662	0.10269	T	0.041	0.17530	T	10	0.08271399	0.13680	T	0.004926	0.12380	T	0.072	0.21020	0.35	0.34760	0.220303561663	0.21668	0.1572690006054573	0.15647	0.316597008402	0.33914	0.371157944202	0.20998	T	0.066614	0.32991	T	-0.190454	0.22190	T	-0.51135	0.21176	T	0.0971272264662142	0.12037	T	0.621038	0.23867	T	0.06723062	0.14539	0.068933986	0.14461	0.06723062	0.14538	0.068933986	0.14461	-4.061	0.26403	T	.	.	0.138	0.30076	B	.;.	.;.	-0.008587	0.04225	1.036	0.97585889396706837	0.34764	0.55769	0.29947	D	AEFGBCI	0.075069	0.15065	N	-1.00383072654947	0.08524	0.3999859	-1.03972205038638	0.08921	0.4411397	0.987282828575251	0.31228	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	-3.89	0.03916	-2.263000	0.01256	-2.617000	0.03544	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.255000	0.23391	0.0:0.2473:0.135:0.6177	7.143	0.24745	985	0.02828	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	690.28	68	chr21	41918931	.	C	G	690.28	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.016e+00;DP=1649;ExcessHet=4.7172;FS=94.625;InbreedingCoeff=-0.3048;MLEAC=9;MLEAF=0.237;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=0.977;SOR=9.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,8:77:79:0|1:41918930_C_G:79,0,2821:41918930	10	0	9	2
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.993	D	0.796	P	0.000	D	0.845	D	1.01	L	1.45	T	-0.894	T	0.124	T	0.464	3.123	16.44	5.53	2.607	4.539	14.966	0.123	0.0219031869935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.478e-05	0.0011	4.439e-05	2.512e-05	4.037e-05	2.676e-05	2.415e-05	3.06e-05	2.725e-05	3.035e-05	0	0	0	0	0	4.037e-05	6.709e-05	1.166e-05	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.094	0.31383	T	0.077	0.42436	T	0.993	0.65571	D	0.796	0.58006	P	0.000050	0.53742	D	0.125982	0.558298	0.35134	D	.	.	.	1.45	0.34050	T	-1.93	0.45404	N	0.445	0.48319	-0.8942	0.48558	T	0.124	0.42799	T	10	0.385596	0.54516	T	0.021903	0.44729	T	0.123	0.34020	0.335	0.32329	0.475272412942	0.47157	0.2669297999209157	0.26605	0.875831749287	0.69562	0.368384510279	0.20599	T	0.169624	0.51706	T	-0.071456	0.41094	T	-0.340418	0.40296	T	0.892000317573547	0.54302	D	0.780422	0.42483	T	0.12762854	0.29860	0.090659045	0.21273	0.12762854	0.29860	0.090659045	0.21273	-4.173	0.26359	T	.	.	0.172	0.37802	B	.;.	.;.	3.657104	0.51934	23.2	0.99734899065078686	0.83047	0.98645	0.85080	D	AEFGBCI	0.411583	0.48200	N	0.342246259245579	0.58331	4.00473	0.324919729865026	0.57008	3.865243	0.999999844603992	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	5.201000	0.64999	4.599000	0.43989	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	14.966	0.70847	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	693.88	38	chr21	41918933	.	C	G	693.88	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-2.962e+00;DP=1518;ExcessHet=4.7172;FS=87.197;InbreedingCoeff=-0.2683;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=0.980;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,8:77:79:0|1:41918930_C_G:79,0,2821:41918930	12	0	9	0
chr21	41918935	41918935	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G53C:p.R18T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.651	P	0.15	B	0.052	N	1.000	N	1.935	M	1.93	T	-1.030	T	0.042	T	0.298	-0.400	2.125	0.664	-0.152	0.376	4.864	0.039	0.00493845236522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.15047	T	0.346	0.17696	T	0.651	0.40707	P	0.15	0.34161	B	0.052137	0.22921	N	0.460473	1	0.08975	N	.	.	.	1.92	0.23082	T	-2.45	0.53577	N	0.252	0.28498	-1.0300	0.20454	T	0.042	0.18118	T	10	0.07400718	0.11258	T	0.004938	0.12442	T	0.039	0.10176	0.274	0.22528	0.158396225186	0.15383	0.2792123094980505	0.27834	0.43111718306	0.43331	0.306925415993	0.11442	T	0.034186	0.23222	T	-0.204236	0.20195	T	-0.531148	0.19171	T	0.249620780348778	0.22856	T	0.616438	0.23595	T	0.05097029	0.09291	0.045770753	0.06232	0.05097029	0.09291	0.045770753	0.06231	-2.512	0.11262	T	.	.	0.089	0.12276	B	.;.	.;.	0.500997	0.08699	5.474	0.53906906178001035	0.05031	0.63413	0.32082	D	AEFGBCI	0.063035	0.12155	N	-0.949612951554288	0.09701	0.4602946	-1.04496436725723	0.08812	0.4351327	0.925456163519065	0.26816	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	0.664	0.17060	0.183000	0.16729	-0.306000	0.10077	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.5278:0.1455:0.3267	4.864	0.12958	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	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	560.61	38	chr21	41918935	.	C	G,T	560.61	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-3.839e+00;DP=1195;ExcessHet=1.1607;FS=104.834;InbreedingCoeff=-0.1351;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=1.27;ReadPosRankSum=1.65;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,8,0:75:85:0|1:41918930_C_G:85,0,2737,287,2761,3047:41918930	16	0	4	0
chr21	41918935	41918935	C	T	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G53A:p.R18K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.011	B	0.005	B	0.052	N	1.000	N	1.245	L	1.98	T	-0.968	T	0.029	T	0.147	-0.717	0.918	0.664	-0.152	0.376	4.864	0.021	0.00359601692473	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386150948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.761	0.08359	T	0.824	0.03783	T	0.006	0.13644	B	0.003	0.08700	B	0.052137	0.22921	N	0.460473	1	0.08975	N	.	.	.	1.97	0.22067	T	-0.97	0.25770	N	0.104	0.11483	-0.9676	0.37693	T	0.029	0.12453	T	10	0.038707197	0.02307	T	0.003596	0.08216	T	0.021	0.04004	0.329	0.31357	0.206339911435	0.20273	0.2555764771231582	0.25471	0.271759973214	0.29688	0.306375771761	0.11360	T	0.066724	0.33019	T	-0.387639	0.02786	T	-0.625465	0.10761	T	0.0195589058417432	0.00659	T	0.449255	0.12651	T	0.03039478	0.02696	0.03585901	0.02919	0.03039478	0.02695	0.03585901	0.02918	-2.169	0.04452	T	.	.	0.084	0.09772	B	.;.	.;.	0.305913	0.06811	3.337	0.60145959432842899	0.06393	0.56893	0.30234	D	AEFGBCI	0.066391	0.12999	N	-1.29262350574295	0.03763	0.1686914	-1.29128918624558	0.04547	0.2147446	0.925456163519065	0.26816	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	0.664	0.17060	0.183000	0.16729	-0.306000	0.10077	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.5278:0.1455:0.3267	4.864	0.12958	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	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	560.61	38	chr21	41918935	.	C	G,T	560.61	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-3.839e+00;DP=1195;ExcessHet=1.1607;FS=104.834;InbreedingCoeff=-0.1351;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=1.27;ReadPosRankSum=1.65;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,8,0:75:85:0|1:41918930_C_G:85,0,2737,287,2761,3047:41918930	16	0	4	0
chr21	42137640	42137722	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	0	splicing	UMODL1	.	.	.	.	.	432	559	239	60	232	591	0.24306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	10995.83	42	chr21	42137640	.	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	A,*	10995.83	.	AC=12,6;AF=0.333,0.167;AN=36;BaseQRankSum=0.289;DP=1413;ExcessHet=0.4630;FS=5.341;InbreedingCoeff=0.1091;MLEAC=13,7;MLEAF=0.361,0.194;MQ=59.77;MQRankSum=-6.950e-01;QD=17.79;ReadPosRankSum=0.619;SOR=0.413	GT:AD:DP:GQ:PL	0/1:37,5,0:42:99:101,0,1344,213,1374,1587	5	1	7	3
chr21	44540129	44540129	C	T	exonic	KRTAP10-1	.	nonsynonymous SNV	KRTAP10-1:NM_198691:exon1:c.G22A:p.V8I,	.	.	410	1091	21	0	0	21	0.00953246	.	.	363826	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.4	T	0.027	B	0.003	B	.	.	1.000	N	1.46	L	3.06	T	-0.947	T	0.009	T	0.061	-0.097	3.526	0.59	-0.129	-0.305	5.907	0.030	.	0.0073	0.00958466	0.0039	0.0179	0.0011	0.0013	0	0.0020	0.0011	0.0082	0.0037451	579	154602	rs11910525	0.0021	0.0021	0.0019	0.0022	0.0219	0.0020	0.0020	0.0206	0.0200	0.0219	0.0014	0.0041	0.0009	0.0005	0.0092	0.0010	0.0031	0.0076	0.0063	0.0063	0.0065	0.0060	0.0186	0.0059	0.0058	0.0175	0.0171	0.0186	0	0.0018	0.0037	0.0006	0.0008	0.0102	0.0012	0.0043	0.0083	0.388	0.10909	T	0.336	0.18232	T	0.027	0.19556	B	0.003	0.08700	B	.	.	.	.	1	0.81001	D	1.26	0.31868	L	3.06	0.08634	T	-0.65	0.18877	N	0.099	0.08088	-0.9474	0.41414	T	0.009	0.03271	T	9	0.004553348	0.00094	T	.	.	.	0.030	0.07022	.	.	0.168933306366	0.16529	0.025932248768890175	0.02544	0.152673835777	0.17223	0.251102715731	0.03885	T	0.002721	0.02115	T	-0.727611	0.00025	T	-0.802344	0.01844	T	0.000572520467392367	0.00005	T	0.244176	0.03564	T	0.022773886	0.00963	0.032454368	0.01983	0.022773886	0.00963	0.032454368	0.01983	-6.308	0.48785	T	.	.	0.081	0.08320	B	.	.	-0.189160	0.03147	0.508	0.83860037986485758	0.14961	0.11888	0.16925	N	AEFBI	0.050071	0.08715	N	-1.03471315158519	0.07890	0.3681103	-1.0256342080835	0.09223	0.4576485	1.20649791263521E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.71	0.59	0.16642	-0.867000	0.04349	-7.925000	0.01060	-0.990000	0.01853	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.0:0.5141:0.3729:0.113	5.907	0.18246	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	5779.11	37	chr21	44540129	.	C	T	5779.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.47;DP=1205;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=1.29;SOR=0.667	GT:AD:DP:GQ:PL	0/1:119,125:244:99:3036,0,2679	19	0	2	0
chr21	44558616	44558616	T	0	exonic	KRTAP10-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	99920.15	123	chr21	44558616	.	T	G,*	99920.15	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=0.718;DP=2610;ExcessHet=0.3300;FS=0.992;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.23;MQRankSum=-1.477e+00;QD=30.87;ReadPosRankSum=0.806;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,136,0:136:99:1|1:44558616_T_G:6021,409,0,6021,409,6021:44558616	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|1:0,133,0:133:99:1|1:44558616_T_G:5920,400,0,5920,400,5920:44558616	0	17	3	0
chr21	44592106	44592106	A	0	exonic	KRTAP10-6	.	.	.	.	.	444	939	103	35	1	174	0.0843491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	4312.68	36	chr21	44592106	.	A	G,*	4312.68	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=7.63;DP=2486;ExcessHet=0.9430;FS=27.882;InbreedingCoeff=0.0102;MLEAC=8,1;MLEAF=0.190,0.024;MQ=47.62;MQRankSum=-8.105e+00;QD=2.89;ReadPosRankSum=-1.139e+00;SOR=2.591	GT:AD:DP:GQ:PL	0/1:142,41,0:183:99:757,0,3574,1311,4044,6643	13	0	7	0
chr21	44697881	44697881	G	A	exonic	KRTAP10-12	.	nonsynonymous SNV	KRTAP10-12:NM_198699:exon1:c.G680A:p.R227H,	.	.	394	1111	17	0	0	17	0.00759268	.	.	2821846	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.958	D	0.568	P	.	.	0.894	N	1.79	L	5.92	T	-0.867	T	0.004	T	0.246	0.841	8.396	2.15	1.473	-0.651	4.143	0.045	0.00261689387951	0.0002	0.000399361	0.0006	0	8.705e-05	0	0	0.0005	0.0034	0.0026	0.0005369	83	154602	rs201774066	0.0005	0.0005	0.0004	0.0006	0.0047	0.0005	0.0005	0.0033	0.0030	3.047e-05	0.0001	3.867e-05	2.543e-05	3.801e-05	0.0047	0.0003	0.0006	0.0035	0.0004	0.0004	0.0004	0.0003	0.0027	0.0003	0.0003	0.0016	0.0013	2.41e-05	0	0.0005	0	0	0	0	0.0005	0.0009	0.0027	0.073	0.34800	T	0.09	0.40267	T	0.958	0.54977	D	0.568	0.49807	P	.	.	.	.	0.894092	0.27827	N	2.2	0.62015	M	5.92	0.00621	T	-3.15	0.64132	D	0.196	0.21580	-0.8669	0.50761	T	0.004	0.01400	T	9	0.008251309	0.00187	T	0.002617	0.05320	T	0.045	0.12272	.	.	0.0920862733494	0.08535	0.06881372150280655	0.06819	0.333317815052	0.35368	0.218016147614	0.01198	T	0.067438	0.33201	T	-0.57164	0.00216	T	-0.598201	0.12962	T	0.0877758966008192	0.10951	T	0.110989	0.00833	T	0.040762078	0.05879	0.051724836	0.08382	0.040762078	0.05879	0.051724836	0.08382	-5.968	0.46011	T	.	.	0.084	0.09772	B	.	.	0.802207	0.11727	8.306	0.98893101535280958	0.48037	0.10071	0.15677	N	AEFDBCIJ	0.036916	0.04994	N	-0.210543744228717	0.32702	1.847058	-0.370258748121231	0.25888	1.426498	0.999742172848609	0.42466	0.608966	0.35542	0	0.563428	0.19063	0	0.769059	0.98459	0	0.530356	0.10902	0	.	.	3.17	2.15	0.26590	-0.151000	0.10160	-2.417000	0.03780	-0.170000	0.11276	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.143:0.246:0.611:0.0	4.143	0.09670	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2233.98	38	chr21	44697881	.	G	A	2233.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=1211;ExcessHet=0.0000;FS=2.161;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.41;ReadPosRankSum=-8.180e-01;SOR=0.906	GT:AD:DP:GQ:PL	0/1:68,77:145:99:2248,0,1731	20	0	1	0
chr22	18922842	18922842	G	T	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon6:c.C500A:p.T167N	.	.	1	1438	83	0	0	83	0.02805	.	.	1159078	not_provided|Proline_dehydrogenase_deficiency	MedGen:C3661900|MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.5	T	0.408	B	0.198	B	0.065	N	1.000	P	1.265	L	1.49	T	-1.014	T	0.000	T	0.222	0.608	7.274	0.756	0.320	-0.022	6.269	0.021	.	0.0333	0.0720847	0.0579	0.0104	0.1609	0.1818	0.0085	0.0437	0.0444	0.0283	0.0576771	8917	154602	rs5747933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.604	0.07354	T	0.544	0.14961	T	0.372	0.34134	B	0.175	0.35598	B	0.065048	0.21909	N	0.496209	1	0.08975	P	.	.	.	1.43	0.32958	T	-0.27	0.12847	N	0.189	0.22998	-1.0145	0.25497	T	0.000	0.00039	T	9	0.0017009974	0.00021	T	.	.	.	0.021	0.04004	.	.	.	.	0.4946535748930686	0.49386	0.331359197874	0.35213	0.406710684299	0.26002	T	0.011657	0.16015	T	-0.651722	0.00071	T	-0.56511	0.15900	T	0.00372201777991252	0.00039	T	0.756224	0.37950	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.38444	B	.;.;.;.;.	.;.;.;.;.	0.135227	0.05303	1.794	0.91944369770692291	0.21271	0.02689	0.07326	N	AEFBI	0.081638	0.16523	N	-0.749487469426016	0.14647	0.731409	-0.754882130175184	0.15603	0.821413	0.792135918401755	0.24033	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	4.18	0.756	0.17569	-0.000000	0.12910	-0.138000	0.11547	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.093000	0.17941	0.3838:0.0:0.6162:0.0	6.269	0.20150	929	0.16858	Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;.	.	.	.	.	.	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	1	0	0	0	0.02381	1087.98	45	chr22	18922842	.	G	T	1087.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.544;DP=1265;ExcessHet=0.0000;FS=0.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.36;ReadPosRankSum=0.617;SOR=0.784	GT:AD:DP:GQ:PL	0/1:59,46:105:99:1102,0,1453	20	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R	.	.	0	170	630	722	0	2074	0.859155	.	.	1159081	Proline_dehydrogenase_deficiency	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.094	N	0.999	P	.	.	-0.92	T	-0.991	T	0.000	T	0.068	-1.216	0.065	2.88	0.250	3.683	6.438	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.6905	64105.31	193	chr22	18925165	.	A	G	64105.31	.	AC=29;AF=0.690;AN=42;BaseQRankSum=-1.553e+00;DP=3080;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=29;MLEAF=0.690;MQ=60.00;MQRankSum=0.00;QD=22.15;ReadPosRankSum=0.574;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:105,117:222:99:.:.:2782,0,2494	3	11	7	0
chr22	20566529	20566529	-	CAG	exonic	MED15	.	nonframeshift insertion	MED15:NM_001293236:exon6:c.540_541insCAG:p.Q191_A192insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4877.26	33	chr22	20566526	.	ACAG	ACAGCAG,A	4877.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-6.180e-01;DP=1022;ExcessHet=1.7912;FS=8.693;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-1.950e-01;SOR=0.415	GT:AD:DP:GQ:PL	0/1:45,39,0:84:99:1270,0,1671,1406,1788,3193	15	0	5	0
chr22	21445988	21445988	G	A	exonic	HIC2	.	nonsynonymous SNV	HIC2:NM_015094:exon3:c.G1093A:p.E365K,	.	.	408	1051	60	3	0	66	0.0304428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.842	P	0.321	B	0.000	D	1.000	D	0.805	L	2.87	T	-1.016	T	0.021	T	0.438	1.216	9.936	5.18	2.694	3.939	16.225	0.147	.	.	0.00199681	0.0032	0	0.0004	0	0	0.0020	0.0023	0.0146	0.0020569	318	154602	rs149799345	0.0014	0.0014	0.0011	0.0017	0.0134	0.0013	0.0013	0.0110	0.0101	0.0003	0.0007	0.0179	0	0	0.0134	0.0004	0.0023	0.0106	0.0014	0.0014	0.0013	0.0015	0.0095	0.0012	0.0012	0.0073	0.0066	0.0002	0	0.0005	0.0242	0	0	0.0068	0.0009	0.0019	0.0095	0.045	0.40832	D	0.205	0.27145	T	0.842	0.46562	P	0.321	0.41760	B	0.000087	0.51296	D	0.129540	0.999958	0.52396	D	1.1	0.28011	L	2.87	0.10386	T	-0.61	0.18042	N	0.222	0.25989	-1.0161	0.24980	T	0.021	0.08639	T	10	0.004128903	0.00081	T	.	.	.	0.147	0.38986	.	.	0.221890330934	0.21812	0.18196097492644409	0.18115	0.638735978135	0.57575	0.689908981323	0.65693	T	0.012475	0.10959	T	-0.483591	0.00705	T	-0.458027	0.26816	T	0.0364715312035745	0.03063	T	0.79772	0.44184	T	0.14119413	0.32544	0.14045286	0.33479	0.14119413	0.32544	0.14045286	0.33478	-5.163	0.38563	T	.	.	0.132	0.31456	B	.;.;.	.;.;.	2.863044	0.37831	20.6	0.93165849342801133	0.22820	0.94731	0.62136	D	AEFDBCI	0.391223	0.46975	N	-0.0280916914730184	0.40586	2.412805	0.0229660518386293	0.40784	2.439533	0.999999999996887	0.74766	0.695654	0.57023	0	0.379588	0.06130	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	1.798000	0.38449	9.871000	0.82128	0.654000	0.53741	0.969000	0.34210	1.000000	0.68203	0.402000	0.26827	0.0:0.0:1.0:0.0	16.225	0.82106	929	0.16858	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1304.11	36	chr22	21445988	.	G	A	1304.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.40;DP=912;ExcessHet=0.1072;FS=3.888;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=1.17;SOR=0.392	GT:AD:DP:GQ:PL	0/1:17,42:59:99:1079,0,390	19	0	2	0
chr22	24185243	24185243	C	T	exonic	SUSD2	.	nonsynonymous SNV	SUSD2:NM_019601:exon6:c.C932T:p.P311L,	.	.	418	1097	7	0	0	7	0.00318037	.	.	2326856	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	1.0	D	0.968	D	0.039	N	0.988	D	2.395	M	1.96	T	-1.006	T	0.119	T	0.308	3.180	16.64	3.24	2.111	1.242	10.818	0.198	0.0653877530997	0.0004	.	0.0002	0	0	0	0	0.0003	0	0.0004	0.0001746	27	154602	rs145501446	0.0003	0.0003	0.0003	0.0003	0.0009	0.0003	0.0003	0.0006	0.0005	5.984e-05	6.712e-05	0	0	2.059e-05	0.0009	0.0003	0.0003	0.0007	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0002	7.215e-05	0	0.0002	0	0	0.0002	0	0.0003	0.0005	0.0004	0.067	0.35918	T	0.389	0.15554	T	1.0	0.90584	D	0.968	0.71741	D	0.038652	0.24261	N	0.433693	0.987999	0.40685	D	2.71	0.79292	M	1.96	0.22270	T	-3.77	0.71397	D	0.376	0.41754	-1.0059	0.28186	T	0.119	0.41648	T	10	0.16047597	0.30126	T	0.065388	0.69565	D	0.198	0.48105	.	.	0.244539031024	0.24083	0.538376691940279	0.53762	0.651268797409	0.58372	0.521308422089	0.41810	T	0.195896	0.55212	T	-0.415453	0.01830	T	-0.462282	0.26352	T	0.179287903234723	0.19190	T	0.886911	0.61435	D	0.12711023	0.29754	0.14060168	0.33510	0.12711023	0.29753	0.14060168	0.33509	-7.934	0.60620	D	.	.	0.093	0.14108	B	.	.	3.360606	0.46396	22.3	0.99825746064137599	0.90764	0.18888	0.20443	N	AEFDBI	0.094329	0.19074	N	0.25667014598375	0.53968	3.563818	0.121609456778492	0.45656	2.824939	0.954711500683552	0.28147	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.613276	0.41899	0	.	.	4.29	3.24	0.36257	0.394000	0.20559	2.528000	0.33154	0.595000	0.32841	0.000000	0.06391	0.980000	0.30356	0.489000	0.28769	0.0:0.8969:0.0:0.1031	10.818	0.45791	809	0.43032	AMOP domain|AMOP domain|AMOP 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	927.98	36	chr22	24185243	.	C	T	927.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.99;DP=802;ExcessHet=0.0000;FS=1.936;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-5.020e-01;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,36:73:99:0|1:24185239_C_T:942,0,820:24185239	20	0	1	0
chr22	24627898	24627898	A	G	exonic	GGT1	.	nonsynonymous SNV	GGT1:NM_001288833:exon13:c.A1255G:p.N419D	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.149	B	0.074	B	0.000	N	1.000	N	0.47	N	2.89	T	-0.937	T	0.013	T	0.295	-2.004	0.007	-3.18	-0.594	1.281	8.567	0.061	0.00363973413134	0.0009	0.00379393	0.0012	0.0061	0.0007	0.0071	0	0.0001	0	0.0003	0.0009989	26	26028	rs17004876	0.0005	0.0005	0.0005	0.0005	0.0073	0.0004	0.0004	0.0066	0.0064	0.0060	0.0005	0	0.0073	1.872e-05	0.0003	6.656e-05	0.0010	0.0003	0.0026	0.0028	0.0028	0.0025	0.0081	0.0024	0.0023	0.0074	0.0071	0.0081	0	0.0015	0	0.0054	0	0.0034	8.83e-05	0.0029	0	0.89	0.02483	T	0.888	0.06448	T	0.149	0.27956	B	0.074	0.28220	B	0.000176	0.48594	N	0.172979	0.999994	0.08975	N	0.47	0.13106	N	2.89	0.10196	T	-0.45	0.17003	N	0.353	0.40465	-0.9366	0.43149	T	0.013	0.04938	T	10	0.010259271	0.00229	T	0.00364	0.08371	T	0.061	0.17616	.	.	0.439549638156	0.43572	0.8400182295445812	0.86394	.	.	0.48791718483	0.37150	T	0.114018	0.43151	T	-0.562751	0.00244	T	-0.577404	0.14778	T	0.00255280886393019	0.00027	T	0.729427	0.34901	T	0.24275334	0.47206	0.099397965	0.23730	0.24275334	0.47206	0.099397965	0.23730	-3.596	0.29271	T	.	.	0.084	0.14888	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	0.574232	0.09426	6.207	0.27065330857495756	0.01326	0.01491	0.04950	N	AEFI	0.049952	0.08681	N	-1.38640666656415	0.02765	0.1225385	-1.40647122085421	0.03187	0.1481395	5.91386986300242E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	3.49	-3.18	0.04867	1.150000	0.31250	2.697000	0.34132	-0.213000	0.08312	0.781000	0.29485	0.998000	0.33993	0.890000	0.42831	0.4324:0.0:0.5676:0.0	8.567	0.32706	680	0.59965	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1053.98	83	chr22	24627898	.	A	G	1053.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=922;ExcessHet=0.0000;FS=0.700;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.19;MQRankSum=-1.530e+00;QD=8.78;ReadPosRankSum=0.965;SOR=0.800	GT:AD:DP:GQ:PL	0/1:75,45:120:99:1068,0,1930	20	0	1	0
chr22	26607993	26607993	G	A	exonic	CRYBB1	.	nonsynonymous SNV	CRYBB1:NM_001887:exon4:c.C328T:p.R110C,	Cataract 17, multiple types	.	0	1477	43	2	0	47	0.0156614	.	.	471814	not_specified|not_provided|Cataract_17_multiple_types	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012688,MedGen:C3888124,OMIM:611544,Orphanet:91492	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.29	T	0.11	B	0.036	B	0.018	N	1.000	D	1.5	L	-1.2	T	-0.739	T	0.294	T	0.408	1.441	10.76	2.55	0.573	3.507	9.879	0.314	.	0.0032	0.00279553	0.0040	0.0005	0.0011	0	0.0002	0.0036	0.0055	0.0130	0.0037774	584	154602	rs147206089	0.0038	0.0038	0.0034	0.0042	0.0130	0.0037	0.0037	0.0119	0.0117	0.0005	0.0013	0.0074	2.519e-05	0.0003	0.0130	0.0035	0.0038	0.0125	0.0025	0.0025	0.0025	0.0024	0.0081	0.0023	0.0022	0.0061	0.0054	0.0005	0	0.0014	0.0084	0	0.0002	0.0034	0.0038	0.0024	0.0081	0.296	0.14694	T	0.334	0.18340	T	0.11	0.26188	B	0.036	0.22909	B	0.018280	0.27521	N	0.409242	1	0.81001	D	1.2	0.30300	L	-1.2	0.78537	T	-2.74	0.58248	D	0.56	0.58458	-0.7390	0.58504	T	0.294	0.66536	T	10	0.01889366	0.00416	T	.	.	.	0.314	0.63588	.	.	0.857164336281	0.85578	0.709777968785086	0.70919	0.44494330437	0.44396	0.426186293364	0.28687	T	0.303705	0.67604	T	-0.314402	0.07366	T	-0.213362	0.53372	T	0.00948379120019987	0.00122	T	0.89791	0.64303	D	0.23340948	0.46144	0.14586306	0.34577	0.27970907	0.51020	0.1532315	0.36015	-7.048	0.54383	T	0.14177902914573434	0.15978	0.150	0.33249	B	.;.	.;.	3.762870	0.53999	23.4	0.94776455865826359	0.25501	0.90965	0.52598	D	AEFDGBI	0.398102	0.47391	N	-0.238859755634585	0.31551	1.770245	-0.138961483284626	0.33837	1.939746	0.999981519265805	0.51787	0.653281	0.48532	0	0.588066	0.40923	0	0.675528	0.61593	0	0.530356	0.10902	0	.	.	4.64	2.55	0.29757	3.076000	0.49779	4.347000	0.43075	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.850000	0.40195	0.1587:0.0:0.8413:0.0	9.879	0.40392	960	0.08626	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin;Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3622.11	37	chr22	26607993	.	G	A	3622.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.65;DP=1041;ExcessHet=0.1072;FS=0.790;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.71;ReadPosRankSum=1.13;SOR=0.643	GT:AD:DP:GQ:PL	0/1:123,81:204:99:1880,0,3013	19	0	2	0
chr22	27983494	27983494	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6173C:p.G2058A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.999	D	0.996	D	0.001	D	1.000	D	1.1	L	-3.55	D	0.873	D	0.854	D	0.534	3.865	19.64	4.62	2.497	5.622	17.344	0.409	0.092232836446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.158e-06	1.3e-05	4.259e-06	0	2.79e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.79e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.382	0.15890	T	0.999	0.77913	D	0.996	0.84481	D	0.000562	0.43250	D	0.231958	0.999998	0.58761	D	2.005	0.54552	M	-3.55	0.94834	D	-1.3	0.32590	N	0.603	0.62103	0.873	0.95310	D	0.854	0.95149	D	10	0.3825744	0.54304	T	0.092233	0.75853	D	0.409	0.72099	0.19	0.10039	0.813956147583	0.81220	0.39497344297316855	0.39412	.	.	0.577225387096	0.49695	T	0.029009	0.20885	T	0.212969	0.75111	D	0.0681383	0.74787	D	0.896070539951324	0.54772	D	0.984702	0.94722	D	0.313312	0.54071	0.39437744	0.64133	0.313312	0.54071	0.39437744	0.64133	-2.954	0.09694	T	.	.	0.597	0.68768	P	.;.	.;.	4.504296	0.70476	25.5	0.99803016321568272	0.88728	0.97027	0.72267	D	AEFDBI	0.627685	0.61005	D	0.584171606304849	0.72186	5.766284	0.570052008804894	0.72802	5.867747	0.999999815894828	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.62	4.62	0.56946	5.680000	0.67831	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.344	0.87192	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2333	768.61	106	chr22	27983494	.	C	G	768.61	.	AC=7;AF=0.233;AN=30;BaseQRankSum=-3.655e+00;DP=1981;ExcessHet=2.5830;FS=182.420;InbreedingCoeff=-0.3157;MLEAC=9;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=1.25;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,17:96:95:0|1:27983493_C_G:95,0,2901:27983493	8	0	7	6
chr22	27983495	27983495	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6172C:p.G2058R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.001	N	1.000	D	1.1	L	-3.6	D	0.805	D	0.837	D	0.769	4.020	20.6	3.6	1.253	7.418	12.290	0.600	0.158398177192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.157e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.027	0.58613	D	1.0	0.90584	D	0.999	0.92359	D	0.000562	0.43250	N	0.231958	0.999999	0.58761	D	2.005	0.54552	M	-3.6	0.95009	D	-2.8	0.59226	D	0.789	0.78546	0.805	0.94474	D	0.837	0.94553	D	10	0.61998546	0.67922	D	0.158398	0.83880	D	0.600	0.84183	0.239	0.17065	0.750618531641	0.74836	0.5121720383386701	0.51139	.	.	0.657954216003	0.61117	T	0.095784	0.39692	T	0.353062	0.86712	D	0.269372	0.86538	D	0.99226039648056	0.82702	D	0.987934	0.95926	D	0.3778262	0.59159	0.5174505	0.72120	0.3778262	0.59159	0.5174505	0.72120	-4.333	0.28637	T	.	.	0.962	0.88285	P	.;.	.;.	4.774876	0.77330	26.7	0.9991599844056599	0.98379	0.99519	0.96998	D	AEFDBI	0.922723	0.89811	D	0.528874973212774	0.68806	5.26799	0.494853380951096	0.67649	5.112284	0.99999983332082	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.62	3.6	0.40374	7.481000	0.80171	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9161:0.0:0.0839	12.290	0.54132	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4375	796.84	106	chr22	27983495	.	C	G	796.84	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-2.082e+00;DP=1886;ExcessHet=2.5830;FS=182.420;InbreedingCoeff=-0.4724;MLEAC=12;MLEAF=0.750;MQ=60.00;MQRankSum=0.00;QD=1.07;ReadPosRankSum=1.34;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,17:96:95:0|1:27983493_C_G:95,0,2901:27983493	1	0	7	13
chr22	29481007	29481007	G	A	exonic	NEFH	.	nonsynonymous SNV	NEFH:NM_021076:exon1:c.G745A:p.G249S,	Charcot-Marie-Tooth disease, axonal, type 2CC, Autosomal dominant	.	414	1070	35	3	0	41	0.0187987	.	.	77642	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.9	T	0.068	B	0.013	B	0.132	N	1.000	N	-0.88	N	-1.47	T	-0.930	T	0.095	T	0.114	-0.668	1.077	-0.513	-0.145	0.411	6.298	0.195	.	0.0020	0.0107827	0.0249	0	0	0.0149	.	0.0154	0.0085	0.0296	0.0036157	559	154602	rs60825978	0.0067	0.0066	0.0058	0.0077	0.0411	0.0066	0.0066	0.0364	0.0345	0.0021	0.0047	0.0232	0.0115	0.0179	0.0411	0.0038	0.0106	0.0330	0.0072	0.0072	0.0060	0.0084	0.0414	0.0068	0.0067	0.0367	0.0349	0.0007	0	0.0057	0.0242	0.0099	0.0164	0.0479	0.0063	0.0085	0.0414	0.396	0.10623	T	1.0	0.01155	T	.	.	.	.	.	.	0.132383	0.18588	N	0.387604	1	0.08975	N	.	.	.	-1.47	0.81067	T	-0.84	0.22944	N	0.107	0.09207	-0.9298	0.44168	T	0.095	0.35818	T	10	0.0027831197	0.00044	T	.	.	.	0.195	0.47612	.	.	.	.	0.08289868046774035	0.08224	1.08208159744	0.77162	0.548835277557	0.45694	T	.	.	.	-0.472215	0.00823	T	-0.428768	0.30074	T	0.00233016498724142	0.00024	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06341	B	.	.	1.400630	0.18148	13.57	0.91404597332805682	0.20671	0.50267	0.28623	D	ALL	0.154538	0.27958	N	-1.65766043803049	0.01003	0.0434865	-1.56724859147163	0.01860	0.0847682	0.999999999998083	0.74766	0.714655	0.82082	0	0.0	0.00010	3	0.378051	0.06126	2	0.526665	0.08891	0	.	.	4.34	-0.513	0.11365	1.461000	0.34866	2.625000	0.33658	-0.109000	0.15193	0.737000	0.28995	0.998000	0.33993	0.613000	0.31716	0.3591:0.1277:0.5132:0.0	6.298	0.20305	678	0.60190	.	.	.	.	.	rs60825978	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	681.98	38	chr22	29481007	.	G	A	681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.070e-01;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.74;ReadPosRankSum=-2.119e+00;SOR=0.613	GT:AD:DP:GQ:PL	0/1:46,32:78:99:696,0,1168	20	0	1	0
chr22	29544567	29544567	G	C	exonic	THOC5	.	nonsynonymous SNV	THOC5:NM_001002879:exon3:c.C133G:p.L45V	.	.	435	1051	33	3	0	39	0.0182158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.0	B	0.0	B	0.013	N	0.705	N	-0.41	N	1.88	T	-1.075	T	0.021	T	0.155	1.884	12.26	2.45	1.451	2.272	6.672	0.026	.	0.0030	0.00958466	0.0067	0.0010	0.0023	0.0142	0.0002	0.0050	0.0099	0.0189	0.0063583	983	154602	rs61740613	0.0051	0.0051	0.0045	0.0056	0.0494	0.0050	0.0049	0.0447	0.0428	0.0019	0.0046	0.0277	0.0147	0.0004	0.0494	0.0029	0.0085	0.0205	0.0042	0.0042	0.0039	0.0045	0.0257	0.0039	0.0038	0.0220	0.0206	0.0008	0	0.0048	0.0268	0.0118	9.42e-05	0.0442	0.0031	0.0109	0.0257	0.285	0.15354	T	0.284	0.21411	T	0.0	0.02946	B	0.0	0.01387	B	0.012778	0.29061	N	0.324591	0.705251	0.30065	N	0.51	0.13489	N	1.88	0.23884	T	-0.23	0.23156	N	0.223	0.25006	-1.0755	0.08246	T	0.021	0.08732	T	10	0.0036479533	0.00067	T	.	.	.	0.026	0.05648	.	.	0.202086224978	0.19791	0.16630728857062255	0.16550	0.868458416371	0.69307	0.421358346939	0.28023	T	0.028	0.20179	T	-0.550343	0.00290	T	-0.54837	0.17482	T	0.0115453650408759	0.00174	T	0.847115	0.52772	T	0.047572292	0.08154	0.032829687	0.02079	0.047572292	0.08154	0.032829687	0.02079	-3.923	0.22647	T	.	.	0.066	0.06024	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.492594	0.32161	18.96	0.97695594081563275	0.35400	0.87414	0.46946	D	AEFDBI	.	.	.	-0.391260137649234	0.25779	1.401982	-0.165713320818619	0.32808	1.870222	0.0291413149525586	0.13871	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.78	2.45	0.28953	2.476000	0.44830	3.579000	0.39150	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0723:0.2016:0.6052:0.121	6.672	0.22265	719	0.55657	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	959.98	33	chr22	29544567	.	G	C	959.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.108;DP=773;ExcessHet=0.0000;FS=5.547;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.03;ReadPosRankSum=1.40;SOR=1.338	GT:AD:DP:GQ:PL	0/1:45,42:87:99:974,0,1073	20	0	1	0
chr22	30264007	30264007	C	A	exonic	OSM	.	nonsynonymous SNV	OSM:NM_001319108:exon3:c.G572T:p.W191L	.	.	410	1107	4	0	1	5	0.00180343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.997	D	0.878	P	0.004	N	1.000	N	1.1	L	-0.1	T	-0.877	T	0.193	T	0.688	2.924	15.75	3.26	1.011	2.146	7.892	0.206	.	7.7e-05	0.00319489	0.0008	0	0.0005	0.0075	0	7.903e-05	0	0.0015	0.0007633	118	154602	rs115760188	0.0003	0.0003	0.0003	0.0004	0.0062	0.0003	0.0003	0.0056	0.0053	3.125e-05	0.0007	0	0.0062	1.96e-05	0.0002	4.248e-05	0.0005	0.0016	0.0004	0.0004	0.0003	0.0006	0.0070	0.0004	0.0003	0.0052	0.0046	2.405e-05	0	0.0008	0	0.0070	0	0	5.88e-05	0.0005	0.0027	0.013	0.55530	D	0.0	0.92824	D	0.997	0.70673	D	0.878	0.62312	P	0.003893	0.34365	N	0.000000	1	0.08975	N	2.125	0.59049	M	-0.1	0.64264	T	-12.69	0.99798	D	0.546	0.58968	-0.8767	0.50020	T	0.193	0.54564	T	10	0.012829393	0.00274	T	.	.	.	0.206	0.49396	.	.	0.754339385808	0.75211	0.28296322255206297	0.28209	0.826738806779	0.67440	0.411698877811	0.26691	T	0.828284	0.95873	D	-0.256706	0.13289	T	-0.138349	0.60260	T	0.0955688231634206	0.11863	T	0.565643	0.19997	T	0.64069265	0.74868	0.4835868	0.70103	0.64069265	0.74869	0.4835868	0.70103	-0.619	0.00661	T	.	.	0.740	0.74625	P	.;.	.;.	3.467509	0.48358	22.6	0.97598376598506853	0.34831	0.45535	0.27560	N	AEFBCI	0.124180	0.24012	N	-0.0197194088921428	0.40964	2.441874	-0.163860230743709	0.32878	1.874949	0.999957549693766	0.48110	0.59774	0.34471	0	0.588066	0.40923	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	4.27	3.26	0.36471	1.532000	0.35634	4.616000	0.44056	0.599000	0.40250	0.066000	0.21956	1.000000	0.68203	0.005000	0.06747	0.0:0.8874:0.0:0.1126	7.892	0.28845	339	0.86048	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1955.98	34	chr22	30264007	.	C	A	1955.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.700e-02;DP=854;ExcessHet=0.0000;FS=2.007;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.22;ReadPosRankSum=-1.652e+00;SOR=0.912	GT:AD:DP:GQ:PL	0/1:86,74:160:99:1970,0,2343	20	0	1	0
chr22	37771716	37771716	G	A	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_007032:exon12:c.G1777A:p.E593K	Deafness, autosomal recessive 28, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.985	D	.	.	1.000	D	1.75	L	1.48	T	-0.856	T	0.176	T	0.932	4.315	22.6	5.24	2.724	9.097	19.033	0.321	0.214176524176	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1378851710	1.847e-05	1.847e-05	1.361e-05	2.338e-05	0.0001	1.265e-05	1.084e-05	7.998e-05	6.237e-05	0	0	0	2.519e-05	0	0	1.169e-05	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.985	0.76457	D	.	.	.	.	0.999995	0.58761	D	1.765	0.45800	L	1.48	0.31731	T	-3.27	0.65512	D	0.778	0.85554	-0.8558	0.51563	T	0.176	0.52021	T	9	0.53303057	0.63292	D	0.214177	0.87444	D	0.321	0.64318	0.273	0.22369	0.589963725375	0.58671	0.5381581731654153	0.53740	0.584650574276	0.54134	0.640069365501	0.58574	T	0.29082	0.66359	T	0.0841927	0.62528	D	0.119829	0.78225	D	0.725216484405598	0.41964	D	0.953005	0.82069	D	0.33421794	0.55814	0.41467565	0.65604	0.31384194	0.54117	0.41104963	0.65348	-9.789	0.77482	D	.	.	0.577	0.67944	P	.;.;.	.;.;.	4.716983	0.75839	26.4	0.99912970584610372	0.98167	0.99699	0.98773	D	AEFBI	0.922823	0.89836	D	0.629160156078185	0.75027	6.233845	0.573932959684836	0.73075	5.911796	0.99999999999953	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	9.283000	0.95023	9.964000	0.82816	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.054000	0.15518	0.0:0.0:1.0:0.0	19.033	0.92945	807	0.43470	.;.;.	.	.	.	.	.	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	1772.98	37	chr22	37771716	.	G	A	1772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.42;DP=842;ExcessHet=0.0000;FS=1.269;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=-8.620e-01;SOR=0.756	GT:AD:DP:GQ:PL	0/1:79,71:150:99:1787,0,1789	20	0	1	0
chr22	39521955	39521955	A	T	exonic	ATF4	.	nonsynonymous SNV	ATF4:NM_001675:exon2:c.A409T:p.T137S	.	.	431	1067	24	0	0	24	0.0111214	.	.	717458	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.016	B	0.02	B	0.770	N	1.000	N	1.67	L	1.91	T	-0.977	T	0.042	T	0.04	0.273	5.478	-1.46	-0.766	0.254	6.421	0.058	0.00667410026828	0.0052	0.00179712	0.0047	0.0018	0.0061	0	0.0017	0.0060	0.0066	0.0036	0.0044631	690	154602	rs150385569	0.0061	0.0061	0.0061	0.0061	0.0078	0.0060	0.0060	0.0070	0.0069	0.0014	0.0055	0.0009	2.582e-05	0.0015	0.0078	0.0071	0.0050	0.0039	0.0043	0.0042	0.0046	0.0039	0.0070	0.0040	0.0039	0.0064	0.0062	0.0015	0.0011	0.0041	0.0017	0	0.0010	0.0342	0.0070	0.0053	0.0020	0.134	0.26300	T	0.381	0.15939	T	0.016	0.17332	B	0.02	0.19048	B	0.769846	0.06591	N	1.103000	1	0.08975	N	1.23	0.30720	L	1.91	0.23283	T	-0.3	0.11913	N	0.064	0.03841	-0.9767	0.35749	T	0.042	0.18202	T	10	0.0032248497	0.00055	T	0.006674	0.17614	T	0.058	0.16647	.	.	0.186928172975	0.18263	0.06111295903092459	0.06051	0.00428377551654	0.00378	0.221920505166	0.01424	T	0.312835	0.68463	T	-0.672476	0.00053	T	-0.734317	0.04134	T	0.00465677136106539	0.00050	T	0.366763	0.08556	T	0.047641173	0.08178	0.046785593	0.06597	0.047641173	0.08177	0.046785593	0.06597	-3.407	0.15150	T	.	.	0.089	0.11989	B	.;.;.	.;.;.	0.102907	0.05042	1.587	0.77322230035010009	0.11827	0.40688	0.26492	N	AEFDBHCI	0.576500	0.57847	D	-0.995582958516228	0.08698	0.4088086	-1.03882691337148	0.08941	0.4421766	0.999999029203516	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.74	-1.46	0.08338	0.170000	0.16476	0.795000	0.21604	-0.074000	0.16291	0.002000	0.15269	0.009000	0.19889	0.810000	0.38174	0.4681:0.1372:0.3947:0.0	6.421	0.20945	895	0.25842	.;.;.	MGAT3	Vagina	.	.	.	Likely benign	0	0	0	0	0	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	2754.98	37	chr22	39521955	.	A	T	2754.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.291;DP=1005;ExcessHet=0.0000;FS=7.774;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=-3.900e-02;SOR=1.101	GT:AD:DP:GQ:PL	0/1:139,115:254:99:2769,0,3474	20	0	1	0
chr22	39649510	39649510	C	T	exonic	CACNA1I	.	nonsynonymous SNV	CACNA1I:NM_001003406:exon9:c.C1472T:p.P491L	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.003	B	0.003	B	0.000	N	0.998	N	1.245	L	-4.06	D	-0.177	T	0.734	D	0.08	-0.424	2.024	-3.25	-0.260	0.042	0.776	0.279	0.111831745221	.	.	5.67e-05	0	0.0010	0	0	0	0	0	1.29e-05	2	154602	rs752791976	2.339e-05	2.668e-05	2.383e-05	2.293e-05	0.0002	1.668e-05	1.467e-05	1.41e-05	1.178e-05	3.116e-05	5.263e-05	0	2.691e-05	0	0.0002	2.117e-05	3.42e-05	3.767e-05	1.314e-05	1.313e-05	2.569e-05	0	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.192	0.25457	T	0.029	0.54541	D	0.001	0.11197	B	0.002	0.08700	B	0.000000	0.00162	N	7739.210000	0.999348	0.22124	N	1.7	0.43825	L	-4.09	0.96627	D	-3.79	0.71639	D	0.232	0.29774	-0.1775	0.78243	T	0.734	0.90891	D	10	0.046116114	0.03763	T	0.111832	0.78976	D	0.279	0.59619	0.294	0.25720	0.578896146939	0.57559	0.3891273771938394	0.38827	0.768518510254	0.64651	0.444932878017	0.31252	T	0.173352	0.52218	T	-0.0491681	0.44574	T	-0.308403	0.43829	T	0.0568058615233279	0.06656	T	0.576842	0.23746	T	0.057860877	0.11569	0.072847314	0.15764	0.057860877	0.11569	0.072847314	0.15763	-3.904	0.22393	T	.	.	0.077	0.10014	B	.;.;.;.	.;.;.;.	0.576644	0.09453	6.230	0.63234244373968251	0.07170	0.04508	0.10132	N	AEFBI	0.061069	0.11649	N	-1.52131192468692	0.01709	0.07483695	-1.59375893003134	0.01693	0.07691426	0.300305477940668	0.19182	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.7	-3.25	0.04765	0.306000	0.19030	-0.026000	0.12859	-1.712000	0.00741	0.033000	0.20612	0.001000	0.17328	0.002000	0.04165	0.409:0.1933:0.2149:0.1828	0.776	0.00968	878	0.29785	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	748.98	33	chr22	39649510	.	C	T	748.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=784;ExcessHet=0.0000;FS=1.865;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.25;ReadPosRankSum=2.23;SOR=1.022	GT:AD:DP:GQ:PL	0/1:48,33:81:99:763,0,1117	20	0	1	0
chr22	43124099	43124099	C	T	exonic	BIK	.	nonsynonymous SNV	BIK:NM_001197:exon2:c.C77T:p.T26I,	.	.	429	1079	13	1	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.051	B	0.048	B	.	.	1.000	N	0.55	N	1.92	T	-0.996	T	0.015	T	0.029	1.753	11.82	-2.62	-0.492	-0.888	0.524	0.019	.	0.0083	0.00279553	0.0083	0.0019	0.0025	0.0002	0.0210	0.0105	0.0121	0.0059	0.0080529	1245	154602	rs11090143	0.0098	0.0098	0.0097	0.0098	0.0104	0.0097	0.0096	0.0103	0.0102	0.0019	0.0029	0.0026	7.557e-05	0.0232	0.0029	0.0104	0.0090	0.0077	0.0075	0.0075	0.0075	0.0075	0.0105	0.0071	0.0070	0.0099	0.0096	0.0019	0.0022	0.0033	0.0026	0.0002	0.0235	0	0.0105	0.0066	0.0050	0.039	0.42487	D	0.079	0.42086	T	0.051	0.22415	B	0.048	0.24975	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.92	0.23082	T	-1.69	0.40274	N	0.1	0.08227	-0.9956	0.31136	T	0.015	0.05897	T	9	0.0035405755	0.00063	T	.	.	.	0.019	0.03383	.	.	0.143124449307	0.13826	0.030796811608915953	0.03028	0.0923363113691	0.10425	0.284139275551	0.08076	T	0.140903	0.47568	T	-0.708882	0.00032	T	-0.780649	0.02433	T	0.0135060138231187	0.00247	T	0.348865	0.07732	T	0.04954497	0.08812	0.043538105	0.05439	0.04954497	0.08812	0.043538105	0.05438	-3.591	0.17727	T	.	.	0.210	0.43707	B	.	.	0.426402	0.07970	4.681	0.99461169962531915	0.65788	0.01242	0.04380	N	AEFDBI	0.027895	0.02361	N	-1.34130423540383	0.03215	0.1432762	-1.44065222837804	0.02856	0.1321483	0.99934780394985	0.39222	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	2.55	-2.62	0.05793	-0.887000	0.04260	-0.612000	0.08217	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.193:0.3557:0.1897:0.2616	0.524	0.00576	809	0.43032	.	.	.	.	.	rs11090143	Likely benign	0	0	0	0	0	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	1972.98	34	chr22	43124099	.	C	T	1972.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.117;DP=823;ExcessHet=0.0000;FS=4.336;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.18;ReadPosRankSum=-1.316e+00;SOR=0.405	GT:AD:DP:GQ:PL	0/1:51,79:130:99:1987,0,1146	20	0	1	0
chr22	43159279	43159279	C	T	exonic	TSPO	.	nonsynonymous SNV	TSPO:NM_000714:exon2:c.C41T:p.A14V	.	.	424	1092	6	0	0	6	0.00273973	.	.	717496	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.34	T	0.004	B	0.003	B	0.284	N	1.000	N	-0.105	N	1.01	T	-1.046	T	0.033	T	0.028	0.320	5.737	-1.96	-0.720	0.230	10.984	0.076	.	0.0017	0.000998403	0.0035	0	0	0	0	0.0050	0.0132	0.0032	0.0011966	185	154602	rs187866832	0.0025	0.0025	0.0025	0.0025	0.0029	0.0024	0.0024	0.0028	0.0027	0.0006	0.0007	0.0001	5.497e-05	0.0005	0.0012	0.0029	0.0017	0.0029	0.0015	0.0015	0.0016	0.0014	0.0025	0.0014	0.0013	0.0022	0.0021	0.0007	0	0.0011	0	0.0002	9.409e-05	0	0.0025	0.0014	0.0017	0.328	0.14645	T	0.347	0.17640	T	0.004	0.12183	B	0.003	0.08700	B	0.283718	0.14897	N	0.660844	1	0.08975	N	.	.	.	1.01	0.41058	T	1.42	0.00846	N	0.074	0.04790	-1.0458	0.15592	T	0.033	0.14117	T	10	0.009313464	0.00210	T	.	.	.	0.076	0.22200	.	.	0.0482279557977	0.04254	0.10879833319805587	0.10808	0.214014092029	0.23928	0.367172718048	0.20426	T	0.003149	0.02556	T	-0.684004	0.00045	T	-0.75709	0.03218	T	0.00154720271831872	0.00016	T	0.614539	0.24845	T	0.02948194	0.02450	0.055886913	0.09886	0.02948194	0.02450	0.055886913	0.09885	-3.875	0.21928	T	.	.	0.069	0.05535	B	.;.;.;.	.;.;.;.	0.425206	0.07959	4.668	0.92481344580476355	0.21912	0.02152	0.06328	N	AEFBCI	0.028731	0.02587	N	-1.40272070203532	0.02615	0.1157139	-1.37777533153695	0.03490	0.1629015	0.844556457785788	0.24929	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.28	-1.96	0.07113	0.166000	0.16400	-2.744000	0.03406	-1.619000	0.00871	0.558000	0.27409	0.000000	0.08366	0.114000	0.18915	0.0:0.1833:0.0:0.8167	10.984	0.46727	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	478.98	34	chr22	43159279	.	C	T	478.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.083;DP=719;ExcessHet=0.0000;FS=1.130;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=0.764;SOR=0.892	GT:AD:DP:GQ:PL	0/1:23,21:44:99:493,0,537	20	0	1	0
chr22	43668979	43668979	T	C	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_198856:exon14:c.A1251G:p.I417M	.	.	432	1082	8	0	0	8	0.00368324	.	.	2778107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.58	T	0.005	B	0.021	B	0.385	N	1.000	N	-0.14	N	1.0	T	-1.034	T	0.034	T	0.055	-0.727	0.887	-9.94	-4.009	-3.423	0.061	0.071	0.00135067105522	0.0009	0.000399361	0.0003	0.0022	0	0	0	0.0001	0	6.057e-05	0.0002199	34	154602	rs145207977	0.0001	0.0001	0.0001	0.0001	0.0024	0.0001	9.973e-05	0.0020	0.0019	0.0024	0.0002	0	0	0	0.0007	4.948e-05	0.0002	0.0002	0.0005	0.0005	0.0004	0.0006	0.0017	0.0004	0.0004	0.0013	0.0012	0.0017	0	0.0001	0	0	0	0.0034	2.939e-05	0	0	0.28	0.17821	T	0.321	0.19073	T	0.005	0.12996	B	0.021	0.19346	B	0.385040	0.04443	N	1.367690	1	0.08975	N	0.09	0.08384	N	1.0	0.41392	T	-0.58	0.17417	N	0.17	0.18103	-1.0338	0.19236	T	0.034	0.14509	T	10	0.0091484785	0.00207	T	0.001351	0.01936	T	0.071	0.20720	.	.	0.206339911435	0.20273	0.15748144635412276	0.15669	0.0553457390412	0.06125	0.261881053448	0.05117	T	0.002625	0.02014	T	-0.698719	0.00037	T	-0.781986	0.02394	T	0.013556022078353	0.00249	T	0.380662	0.09189	T	0.060081076	0.12286	0.04823514	0.07123	0.060081076	0.12285	0.04823514	0.07122	-4.503	0.35633	T	.	.	0.062	0.04041	B	.;.	.;.	-1.480321	0.00307	0.005	0.087601175916635202	0.00075	0.00660	0.02859	N	AEFI	0.060162	0.11414	N	-2.20717203241649	0.00074	0.003162222	-2.30085149022259	0.00066	0.002902564	0.999992603108497	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.97	-9.94	0.00371	-2.825000	0.00815	-5.106000	0.01847	-0.126000	0.13398	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.307:0.1844:0.2234:0.2852	0.061	0.00014	923	0.18507	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1185.98	33	chr22	43668979	.	T	C	1185.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=772;ExcessHet=0.0000;FS=2.848;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=0.031;SOR=1.022	GT:AD:DP:GQ:PL	0/1:38,47:85:99:1200,0,820	20	0	1	0
chr22	43687497	43687497	A	-	exonic	EFCAB6	.	frameshift deletion	EFCAB6:NM_198856:exon9:c.660delT:p.S220Rfs*5	.	.	460	1060	2	0	0	2	0.000942507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1332176428	0	6.842e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4081.07	51	chr22	43687496	.	TA	T	4081.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.45;DP=1300;ExcessHet=0.1072;FS=0.455;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.88;ReadPosRankSum=-5.510e-01;SOR=0.728	GT:AD:DP:GQ:PL	0/1:71,68:139:99:2236,0,2339	19	0	2	0
chr22	46536756	46536756	A	G	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon1:c.T415C:p.C139R	.	.	415	1071	33	3	0	39	0.0178817	.	.	2819725	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.0	B	0.0	B	0.775	U	1.000	N	0	N	0.03	T	-1.019	T	0.112	T	0.181	-0.858	0.532	0.761	-0.015	-0.260	2.358	0.071	0.121595727327	.	.	0	.	.	0	.	.	.	0	0.0002393	37	154602	rs759467955	0.0054	0.0043	0.0053	0.0054	0.0193	0.0052	0.0052	0.0150	0.0134	0.0009	0.0072	0.0256	0	0.0003	0.0193	0.0053	0.0071	0.0057	0.0045	0.0044	0.0047	0.0042	0.0060	0.0042	0.0041	0.0055	0.0053	0.0010	0	0.0054	0.0247	0	0.0003	0.0342	0.0060	0.0087	0.0052	0.076	0.34269	T	0.454	0.12812	T	0.0	0.02946	B	0.0	0.01387	B	0.774893	0.09518	U	0.808768	1	0.08975	N	0	0.06538	N	-0.24	0.66834	T	0.53	0.02808	N	0.155	0.16028	-1.0194	0.23910	T	0.112	0.40122	T	10	0.003765136	0.00070	T	0.121596	0.80239	D	0.071	0.20720	.	.	0.158540857583	0.15491	0.17129365621047626	0.17049	1.23612584756	0.81467	0.693349957466	0.66187	T	0.08547	0.37509	T	-0.510128	0.00501	T	-0.493864	0.22986	T	0.0346802987025587	0.02754	T	0.181682	0.01835	T	0.10864709	0.25689	0.215554	0.46149	0.10864709	0.25689	0.215554	0.46148	-2.165	0.03874	T	.	.	0.070	0.03336	B	.	.	0.605335	0.09738	6.506	0.26078904290104726	0.01232	0.01462	0.04886	N	AEFDBCI	0.031629	0.03420	N	-1.44437987505424	0.02261	0.09966429	-1.48791726805176	0.02443	0.1123685	0.999947263703116	0.47345	0.59774	0.34471	0	0.573078	0.20572	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	1.84	0.761	0.17594	0.305000	0.19006	-1.025000	0.06567	-0.403000	0.05289	0.067000	0.21986	0.000000	0.08366	0.001000	0.02609	0.305:0.5073:0.0:0.1876	2.358	0.04037	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	128.33	24	chr22	46536756	.	A	G	128.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.989e+00;DP=441;ExcessHet=0.0000;FS=20.584;InbreedingCoeff=-0.0372;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=8.02;ReadPosRankSum=0.726;SOR=2.510	GT:AD:DP:GQ:PL	0/1:9,7:16:99:142,0,264	19	0	1	1
chr22	49883846	49883846	G	A	exonic	ZBED4	.	nonsynonymous SNV	ZBED4:NM_014838:exon2:c.G184A:p.G62S,	.	.	424	1065	32	1	0	34	0.0157116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.031	B	0.01	B	0.923	N	1.000	N	0	N	1.01	T	-0.973	T	0.043	T	0.1	2.273	13.56	-8.46	-2.295	-0.385	12.308	0.021	.	0.0033	0.00698882	0.0061	0.0009	0.0011	0.0001	0.0014	0.0041	0.0099	0.0260	0.0057891	895	154602	rs149368184	0.0053	0.0053	0.0046	0.0060	0.0259	0.0052	0.0052	0.0250	0.0247	0.0011	0.0013	0.0025	5.054e-05	0.0015	0.0075	0.0044	0.0054	0.0259	0.0032	0.0032	0.0032	0.0032	0.0255	0.0030	0.0029	0.0219	0.0205	0.0012	0	0.0018	0.0029	0.0002	0.0010	0.0034	0.0038	0.0028	0.0255	0.181	0.21884	T	0.506	0.10967	T	0.031	0.20130	B	0.01	0.14941	B	0.923499	0.07491	N	1.044870	1	0.08975	N	0.55	0.14455	N	1.01	0.41058	T	0.05	0.06369	N	0.085	0.06190	-0.9729	0.36583	T	0.043	0.18410	T	10	0.0031244755	0.00052	T	.	.	.	0.021	0.04004	.	.	0.198222871337	0.19423	0.07245715163283294	0.07182	0.42463714905	0.42886	0.225247323513	0.01635	T	0.026783	0.19750	T	-0.647097	0.00075	T	-0.68269	0.06821	T	0.0122027998289608	0.00196	T	0.412859	0.10744	T	0.032617938	0.03322	0.03913748	0.03940	0.032617938	0.03322	0.03913748	0.03939	-3.178	0.12214	T	.	.	0.085	0.10062	B	.	.	-1.112552	0.00625	0.017	0.70668893529333754	0.09371	0.00680	0.02918	N	AEFDBI	0.018867	0.00606	N	-1.72146032854527	0.00768	0.03319096	-1.79521640729504	0.00775	0.03454767	0.999886811230625	0.44867	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.31	-8.46	0.00822	-0.534000	0.06238	-2.552000	0.03617	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1199:0.4749:0.4052:0.0	12.308	0.54234	975	0.05339	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4013.11	33	chr22	49883846	.	G	A	4013.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.85;DP=976;ExcessHet=0.1072;FS=2.630;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.08;ReadPosRankSum=1.90;SOR=0.868	GT:AD:DP:GQ:PL	0/1:63,71:134:99:1960,0,1597	19	0	2	0
chr22	49909927	49909927	G	A	exonic	ALG12	.	nonsynonymous SNV	ALG12:NM_024105:exon5:c.C631T:p.R211C,	Congenital disorder of glycosylation, type Ig	.	0	1479	43	0	0	43	0.0143286	.	.	101991	ALG12-congenital_disorder_of_glycosylation|not_provided|not_specified	MONDO:MONDO:0011783,MedGen:C2931001,OMIM:607143,Orphanet:79324|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.019	B	0.022	B	0.285	N	1.000	N	2.015	M	-0.06	T	-0.981	T	0.060	T	0.424	1.336	10.39	-2.93	-0.130	2.156	5.595	0.237	.	0.0043	0.0165735	0.0095	0.0038	0.0020	0.0296	0.0014	0.0044	0.0123	0.0312	0.0089714	1387	154602	rs144665682	0.0069	0.0069	0.0061	0.0076	0.0309	0.0068	0.0067	0.0300	0.0296	0.0061	0.0019	0.0050	0.0300	0.0019	0.0087	0.0046	0.0078	0.0309	0.0062	0.0062	0.0059	0.0064	0.0324	0.0058	0.0057	0.0284	0.0269	0.0059	0	0.0032	0.0052	0.0324	0.0013	0.0034	0.0042	0.0033	0.0313	0.173	0.22573	T	0.17	0.30436	T	0.019	0.17989	B	0.022	0.19653	B	0.285252	0.03858	N	1.369290	1	0.08975	N	0.795	0.19620	N	-0.06	0.63568	T	-2.8	0.59226	D	0.187	0.20395	-0.9811	0.34748	T	0.060	0.25127	T	10	0.006156057	0.00139	T	.	.	.	0.237	0.54074	.	.	0.629195211289	0.62616	0.4898512708998514	0.48905	0.216843438073	0.24205	0.243083298206	0.03075	T	0.34965	0.71747	T	-0.41824	0.01755	T	-0.349864	0.39221	T	0.0094539555011702	0.00122	T	0.611339	0.23205	T	0.09904964	0.23370	0.07984733	0.18010	0.09904964	0.23370	0.07984733	0.18010	-5.331	0.40249	T	0.08436020165010061	0.04649	0.103	0.18372	B	.	.	1.568494	0.20082	14.58	0.92082893888583861	0.21431	0.16713	0.19515	N	AEFDBI	0.058154	0.10890	N	-0.904010963300941	0.10748	0.5151285	-0.985141080864406	0.10119	0.5076123	0.999977860468369	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.44	-2.93	0.05261	2.172000	0.42090	0.551000	0.19421	-0.153000	0.12021	0.704000	0.28664	0.000000	0.08366	0.000000	0.00833	0.3751:0.4205:0.2043:0.0	5.595	0.16603	970	0.06235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2594.11	34	chr22	49909927	.	G	A	2594.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.86;DP=1344;ExcessHet=0.1072;FS=0.481;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=1.57;SOR=0.652	GT:AD:DP:GQ:PL	0/1:71,64:135:99:1560,0,1572	19	0	2	0
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	17831.26	36	chr22	49922304	.	C	T,*	17831.26	.	AC=10,8;AF=0.238,0.190;AN=42;BaseQRankSum=2.03;DP=1611;ExcessHet=1.2156;FS=0.561;InbreedingCoeff=0.0278;MLEAC=10,8;MLEAF=0.238,0.190;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=0.644;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,55,0:109:99:0|1:49922276_G_T:1995,0,1940,2157,2106,4263:49922276	7	1	7	0
chr22	50289061	50289061	C	T	exonic	PLXNB2	.	nonsynonymous SNV	PLXNB2:NM_001376869:exon3:c.G1150A:p.V384M	.	.	423	1093	6	0	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.668	P	0.228	B	0.224	N	1.000	N	2.305	M	3.47	T	-1.051	T	0.035	T	0.3	2.145	13.13	0.886	0.507	-0.114	5.889	0.074	0.0309045049067	.	0.000798722	0.0010	0	9.351e-05	0	0	0.0001	0	0.0066	0.0007438	115	154602	rs573754705	0.0004	0.0004	0.0002	0.0006	0.0058	0.0004	0.0004	0.0054	0.0053	0	0.0001	0	0	0	0.0019	2.706e-05	0.0004	0.0058	0.0002	0.0002	7.71e-05	0.0004	0.0062	0.0002	0.0001	0.0045	0.0039	2.407e-05	0	0	0	0	0	0	2.941e-05	0	0.0062	0.019	0.91255	D	0.01	0.65728	D	0.668	0.41123	P	0.228	0.38116	B	0.223651	0.16080	N	0.510406	0.999998	0.08975	N	2.34	0.67151	M	2.73	0.11839	T	-0.52	0.25770	N	0.179	0.19861	-1.0508	0.14175	T	0.035	0.15291	T	10	0.011398971	0.00249	T	0.030905	0.53115	D	0.074	0.21613	0.485	0.56780	0.176862962021	0.17281	0.826443487406513	0.82602	0.413463600646	0.42051	0.654582858086	0.60636	T	0.097228	0.39983	T	-0.515717	0.00466	T	-0.510678	0.21246	T	0.0267854002017389	0.01514	T	0.720728	0.37327	T	0.05671701	0.11194	0.069095105	0.14514	0.05671701	0.11194	0.069095105	0.14514	-7.303	0.56217	T	.	.	0.122	0.36275	B	.;.;.;.	.;.;.;.	2.501842	0.32295	19.00	0.99776047130093859	0.86346	0.10569	0.16039	N	AEFBI	0.134413	0.25441	N	-0.342022455336561	0.27567	1.513458	-0.465885077910361	0.23099	1.258007	0.982499819187138	0.30407	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.28	0.886	0.18329	-0.296000	0.08323	0.084000	0.14428	0.583000	0.30283	0.000000	0.06391	0.002000	0.18203	0.414000	0.27095	0.1275:0.5617:0.234:0.0767	5.889	0.18146	633	0.64743	Sema domain|Sema domain|Sema domain;Sema domain|Sema domain|Sema domain;.;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	1	0	0	0	0.02381	1207.98	38	chr22	50289061	.	C	T	1207.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.76;DP=832;ExcessHet=0.0000;FS=2.621;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.60;ReadPosRankSum=-7.140e-01;SOR=0.460	GT:AD:DP:GQ:PL	0/1:68,46:114:99:1222,0,1654	20	0	1	0
chrX	6533824	6533883	TCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	-	exonic	VCX3A	.	nonframeshift deletion	VCX3A:NM_016379:exon3:c.423_482del:p.V160_E179del,	.	.	45	125	45	1	10	57	0.158249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0009	0.0006	6.599e-05	0.0042	0.0004	0.0004	0.0031	0.0027	0.0003	0.0005	0.0028	0.0042	0.0009	0.0014	0.0003	0.0010	0.0004	0.0044	0.0088	0.0058	0	0.0074	0.0039	0.0038	0.0043	0.0039	0.0053	0.0028	0.0055	0.0040	0.0074	0.0053	0.0227	0.0036	0.0050	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4493.37	298	chrX	6533823	.	CTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	C,TTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT,*	4493.37	.	AC=1,6,1;AF=0.050,0.300,0.050;AN=20;BaseQRankSum=0.473;DP=4867;ExcessHet=4.6500;FS=6.509;InbreedingCoeff=-0.3114;MLEAC=2,9,2;MLEAF=0.100,0.450,0.100;MQ=47.84;MQRankSum=1.25;QD=4.70;ReadPosRankSum=2.24;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:109,0,0,0:109:99:.:.:725,0,5887,1127,4699,20220,1880,6063,13348,13808	2	0	1	11
chrX	6533823	6533883	CTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	0	exonic	VCX3A	.	.	.	.	.	627	586	269	6	34	315	0.193393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4493.37	298	chrX	6533823	.	CTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	C,TTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT,*	4493.37	.	AC=1,6,1;AF=0.050,0.300,0.050;AN=20;BaseQRankSum=0.473;DP=4867;ExcessHet=4.6500;FS=6.509;InbreedingCoeff=-0.3114;MLEAC=2,9,2;MLEAF=0.100,0.450,0.100;MQ=47.84;MQRankSum=1.25;QD=4.70;ReadPosRankSum=2.24;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:109,0,0,0:109:99:.:.:725,0,5887,1127,4699,20220,1880,6063,13348,13808	2	0	1	11
chrX	6533828	6533828	C	0	exonic	VCX3A	.	.	.	.	.	589	631	262	5	35	307	0.177314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	1960.98	281	chrX	6533828	.	C	T,*	1960.98	.	AC=2,2;AF=0.077,0.077;AN=26;BaseQRankSum=-4.230e-01;DP=4752;ExcessHet=0.8560;FS=1.716;InbreedingCoeff=0.0215;MLEAC=3,3;MLEAF=0.115,0.115;MQ=46.81;MQRankSum=-6.630e-01;QD=2.78;ReadPosRankSum=-1.398e+00;SOR=0.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:109,0,0:109:99:.:.:725,1880,13808,0,6063,5887	9	0	2	8
chrX	6533831	6533831	C	0	exonic	VCX3A	.	.	.	.	.	520	916	66	3	17	89	0.0378151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	721.15	177	chrX	6533831	.	C	G,*	721.15	.	AC=1,3;AF=0.031,0.094;AN=32;BaseQRankSum=-2.512e+00;DP=3673;ExcessHet=0.6776;FS=4.344;InbreedingCoeff=-0.1831;MLEAC=1,4;MLEAF=0.031,0.125;MQ=39.27;MQRankSum=2.06;QD=2.63;ReadPosRankSum=2.74;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:109,0,0:109:99:.:.:725,1880,13808,0,6063,5887	12	0	1	5
chrX	7843976	7843976	C	0	exonic	VCX	.	.	.	.	.	638	189	366	281	48	976	0.710567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,286,0,0:286:99:.:.:8452,858,0,7344,848,7954,7344,848,7954,7954	0	8	6	4
chrX	7843976	7843976	-	AGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	exonic	VCX	.	frameshift insertion	VCX:NM_013452:exon3:c.581_582insAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT:p.S195Gfs*73,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.875e-05	0.0002	0	0	0	0	0	0	.	.	.	.	3.738e-06	8.672e-06	5.615e-06	0	6.53e-05	6.2e-07	2.3e-07	.	.	0	6.53e-05	0	0	0	0	2.552e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,286,0,0:286:99:.:.:8452,858,0,7344,848,7954,7344,848,7954,7954	0	8	6	4
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2843.69	154	chrX	10469688	.	G	A,C	2843.69	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-4.097e+00;DP=2076;ExcessHet=7.7275;FS=136.517;InbreedingCoeff=-0.3621;MLEAC=10,1;MLEAF=0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.424;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,39,0:178:99:0|1:10469688_G_A:457,0,3273,858,3385,4242:10469688	10	0	10	0
chrX	10469688	10469688	G	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294G:p.L432V	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.056298643	0.06289	T	.	.	.	.	.	.	.	0.327401308167	0.32341	.	.	.	.	.	.	.	0.002243	0.01642	T	-0.246398	0.14543	T	-0.59171	0.13519	T	.	.	.	0.329867	0.06895	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20391	B	.	.	2.708854	0.35399	19.89	0.75207624297957498	0.10986	0.17709	0.19954	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2619	2843.69	154	chrX	10469688	.	G	A,C	2843.69	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-4.097e+00;DP=2076;ExcessHet=7.7275;FS=136.517;InbreedingCoeff=-0.3621;MLEAC=10,1;MLEAF=0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.424;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,39,0:178:99:0|1:10469688_G_A:457,0,3273,858,3385,4242:10469688	10	0	10	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2895	2549.41	154	chrX	10469690	.	T	C	2549.41	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-3.832e+00;DP=2194;ExcessHet=7.7275;FS=128.174;InbreedingCoeff=-0.4080;MLEAC=12;MLEAF=0.316;MQ=60.00;MQRankSum=0.00;QD=1.85;ReadPosRankSum=0.463;SOR=11.234	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,29:173:99:0|1:10469688_G_A:124,0,5425:10469688	8	0	11	2
chrX	10469693	10469693	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1289G:p.E430G	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	1.0000	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0	0.0002	0.0001	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	0	0.0002	0.0002	3.742e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.32144	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.203	0.22486	.	.	.	.	.	.	.	0.24297184	0.41502	T	.	.	.	.	.	.	.	0.747603607226	0.74533	.	.	.	.	.	.	.	0.021315	0.16623	T	0.0253054	0.55096	T	-0.201427	0.54511	T	.	.	.	0.294771	0.05441	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40457	B	.	.	5.344784	0.89672	31	0.96935891014238906	0.31676	0.98570	0.84213	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999998814	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.899241	0.56623	5.6	5.6	0.84997	7.515000	0.80659	7.688000	0.65646	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.867	0.70064	505	0.75648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2167.81	117	chrX	10469693	.	T	C	2167.81	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-4.149e+00;DP=2021;ExcessHet=4.7172;FS=131.479;InbreedingCoeff=-0.2861;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.93;ReadPosRankSum=0.361;SOR=11.043	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,30:175:99:0|1:10469688_G_A:128,0,5457:10469688	12	0	9	0
chrX	12716812	12716812	T	C	exonic	FRMPD4	.	nonsynonymous SNV	FRMPD4:NM_001368400:exon14:c.T2233C:p.S745P	Mental retardation, X-linked 104, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.979	D	0.776	P	0.000	D	0.652	N	2.255	M	1.03	T	-0.615	T	0.193	T	0.658	3.360	17.32	4.27	0.614	4.702	10.543	0.180	0.088739418457	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338853481	9.107e-07	9.105e-07	0	2.752e-06	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.007	0.69154	D	0.979	0.59044	D	0.776	0.57120	P	0.000001	0.84330	D	0.057733	0.652005	0.30525	N	1.895	0.50365	L	1.03	0.40469	T	-3.46	0.67705	D	0.587	0.60749	-0.6146	0.64213	T	0.193	0.54652	T	10	0.359742	0.52635	T	0.088739	0.75192	D	0.180	0.45073	0.107	0.01868	0.380930846314	0.37709	0.5519977185251784	0.55125	0.559114294219	0.52467	0.63764321804	0.58229	T	0.331872	0.70190	T	-0.133833	0.30876	T	-0.279725	0.46831	T	0.85785698890686	0.50857	D	0.934107	0.77228	D	0.8263521	0.85651	0.77223194	0.86556	0.8263521	0.85652	0.77223194	0.86557	-11.273	0.81134	D	.	.	0.932	0.86185	P	.;.	.;.	3.417952	0.47442	22.5	0.99851779212092451	0.93102	0.83106	0.42252	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.969276807818116	0.29116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.56	4.27	0.50009	4.682000	0.61360	2.581000	0.33416	0.644000	0.52426	1.000000	0.71638	0.998000	0.33993	0.989000	0.64315	0.1748:0.0:0.0:0.8252	10.543	0.44234	728	0.54609	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2887.98	42	chrX	12716812	.	T	C	2887.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.416e+00;DP=1000;ExcessHet=0.0000;FS=0.475;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=-4.660e-01;SOR=0.632	GT:AD:DP:GQ:PL	0/1:123,113:236:99:2902,0,3270	20	0	1	0
chrX	12718520	12718520	G	A	exonic	FRMPD4	.	nonsynonymous SNV	FRMPD4:NM_001368400:exon15:c.G3574A:p.A1192T	Mental retardation, X-linked 104, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.839	P	0.367	B	0.000	D	0.885	N	2.08	M	3.19	T	-1.094	T	0.033	T	0.275	3.201	16.72	2.58	0.485	3.569	15.943	0.103	0.0678945226147	.	.	1.155e-05	0	0	0	0	2.119e-05	0	0	3.84e-05	1	26028	rs768228332	9.188e-07	9.109e-07	1.362e-06	0	2.842e-05	0	0	.	.	0	2.842e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.144	0.33109	T	0.839	0.46454	P	0.367	0.43430	B	0.000058	0.53742	D	0.163605	0.885176	0.27980	N	1.67	0.42885	L	3.19	0.07353	T	-0.62	0.18248	N	0.523	0.55280	-1.0942	0.04869	T	0.033	0.14029	T	10	0.23688617	0.40778	T	0.067895	0.70296	D	0.103	0.29403	0.083	0.00760	0.325139982731	0.32122	0.19706596818510957	0.19623	0.185139718776	0.20815	0.538969874382	0.44299	T	0.031507	0.22075	T	-0.369114	0.03639	T	-0.655493	0.08574	T	0.333898319890039	0.26381	T	0.872813	0.59406	D	0.29944053	0.52854	0.5086039	0.71601	0.29944053	0.52854	0.5086039	0.71602	-3.183	0.12274	T	.	.	0.081	0.12891	B	.;.	.;.	2.752062	0.36079	20.2	0.9977408185297395	0.86174	0.93763	0.59121	D	AEFBI	.	.	.	.	.	.	.	.	.	0.0455109711929256	0.14654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.46	2.58	0.30011	3.639000	0.54079	2.963000	0.35764	0.654000	0.53741	1.000000	0.71638	0.999000	0.35428	0.878000	0.41950	0.0:0.3682:0.6317:0.0	15.943	0.79559	709	0.56835	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2735.98	138	chrX	12718520	.	G	A	2735.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.556e+00;DP=997;ExcessHet=0.0000;FS=1.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.19;ReadPosRankSum=-1.788e+00;SOR=0.579	GT:AD:DP:GQ:PL	0/1:78,91:169:99:2750,0,2037	20	0	1	0
chrX	24179554	24179562	GTTGGACAT	-	exonic	ZFX	.	nonframeshift deletion	ZFX:NM_001178084:exon3:c.430_438del:p.G151_V153del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	.	0.0005	0.0013	0.0012	0.0020	0	0.0002	0	0.0004	0.0001153	3	26028	rs746150901	0.0005	0.0005	0.0005	0.0005	0.0040	0.0005	0.0004	0.0034	0.0032	0.0022	0.0009	5.159e-05	0.0040	0	0.0010	0.0004	0.0003	0.0004	0.0006	0.0007	0.0008	0.0003	0.0016	0.0005	0.0005	0.0012	0.0011	0.0016	0	0.0007	0	0.0014	0	0	0.0002	0	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	7808.94	34	chrX	24179553	.	CGTTGGACAT	C	7808.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.095;DP=1235;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.46;ReadPosRankSum=0.128;SOR=0.728	GT:AD:DP:GQ:PL	0/1:215,208:423:99:7823,0,8141	20	0	1	0
chrX	24364259	24364259	-	TGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGC:p.A543_P544insA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/3:5,0,2,7,0,0,0:14:99:177,360,2611,242,2424,2600,0,1470,1331,1362,360,2611,2424,1470,2611,360,2611,2424,1470,2611,2611,360,2611,2424,1470,2611,2611,2611	8	0	1	0
chrX	24364259	24364259	-	TGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGC:p.A543_P544insAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/3:5,0,2,7,0,0,0:14:99:177,360,2611,242,2424,2600,0,1470,1331,1362,360,2611,2424,1470,2611,360,2611,2424,1470,2611,2611,360,2611,2424,1470,2611,2611,2611	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGC:p.A543_P544insAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/3:5,0,2,7,0,0,0:14:99:177,360,2611,242,2424,2600,0,1470,1331,1362,360,2611,2424,1470,2611,360,2611,2424,1470,2611,2611,360,2611,2424,1470,2611,2611,2611	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGCTGC:p.A543_P544insAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/3:5,0,2,7,0,0,0:14:99:177,360,2611,242,2424,2600,0,1470,1331,1362,360,2611,2424,1470,2611,360,2611,2424,1470,2611,2611,360,2611,2424,1470,2611,2611,2611	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGCTGCTGC:p.A543_P544insAAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/3:5,0,2,7,0,0,0:14:99:177,360,2611,242,2424,2600,0,1470,1331,1362,360,2611,2424,1470,2611,360,2611,2424,1470,2611,2611,360,2611,2424,1470,2611,2611,2611	8	0	1	0
chrX	24364309	24364312	GCTC	0	exonic	SUPT20HL1	.	.	.	.	.	367	1045	21	4	85	114	0.0136857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	232.24	99	chrX	24364309	.	GCTC	G,*	232.24	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=1.78;DP=1692;ExcessHet=0.3300;FS=2.678;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=59.50;MQRankSum=0.00;QD=1.29;ReadPosRankSum=4.11;SOR=0.435	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,7,0:70:85:0|1:24364309_GCTC_G:85,0,2550,366,2538,3305:24364309	18	0	2	0
chrX	24364310	24364336	CTCCTGCTCCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	.	0	189	21	5	11	42	0.0757946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	302.11	99	chrX	24364310	.	CTCCTGCTCCTGCTCTAGCTGCTGCTG	*,C	302.11	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-2.399e+00;DP=1670;ExcessHet=0.3300;FS=3.618;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=1.64;ReadPosRankSum=1.75;SOR=0.430	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,7,0:70:85:0|1:24364309_GCTC_G:85,0,2550,366,2538,3305:24364309	18	0	2	0
chrX	24364312	24364336	CCTGCTCCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	.	385	1083	16	7	31	61	0.0136612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1192.61	92	chrX	24364312	.	CCTGCTCCTGCTCTAGCTGCTGCTG	C,*	1192.61	.	AC=2,3;AF=0.067,0.100;AN=30;DP=1677;ExcessHet=0.0454;FS=0.000;InbreedingCoeff=0.1390;MLEAC=3,4;MLEAF=0.100,0.133;MQ=59.73;MQRankSum=0.00;QD=7.18;ReadPosRankSum=1.61;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:41,0,11:52:99:0|1:24364312_CCTGCTCCTGCTCTAGCTGCTGCTG_C:1265,666,4954,0,1791,1545:24364312	11	1	0	6
chrX	24364318	24364336	CCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	.	394	1076	19	5	28	57	0.0132967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	577.6	63	chrX	24364318	.	CCTGCTCTAGCTGCTGCTG	*,GCTGCTCTAGCTGCTGCTG,C	577.6	.	AC=3,1,1;AF=0.083,0.028,0.028;AN=36;BaseQRankSum=2.10;DP=1497;ExcessHet=0.0454;FS=0.609;InbreedingCoeff=0.2571;MLEAC=3,1,1;MLEAF=0.083,0.028,0.028;MQ=59.49;MQRankSum=0.00;QD=3.68;ReadPosRankSum=3.24;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:36,0,7,0:43:99:0|1:24364309_GCTC_G:1180,245,2518,0,1450,2579,932,2286,2190,3301:24364309	14	1	1	3
chrX	24364318	24364318	C	G	exonic	SUPT20HL1	.	nonsynonymous SNV	SUPT20HL1:NM_001136234:exon1:c.C1636G:p.P546A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0020	0.0043	0	0.0192	0.0019	0	0.0008	3.84e-05	1	26028	rs768988575	0.0047	0.0046	0.0067	2.072e-05	0.0056	0.0046	0.0045	0.0055	0.0054	0.0023	0.0002	0.0006	0.0011	0.0002	0.0011	0.0056	0.0040	0.0035	2.646e-05	0.0003	3.634e-05	0	6.576e-05	4.39e-06	1.64e-06	.	.	6.576e-05	0	0	0	0	0	0	2.442e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1389	577.6	63	chrX	24364318	.	CCTGCTCTAGCTGCTGCTG	*,GCTGCTCTAGCTGCTGCTG,C	577.6	.	AC=3,1,1;AF=0.083,0.028,0.028;AN=36;BaseQRankSum=2.10;DP=1497;ExcessHet=0.0454;FS=0.609;InbreedingCoeff=0.2571;MLEAC=3,1,1;MLEAF=0.083,0.028,0.028;MQ=59.49;MQRankSum=0.00;QD=3.68;ReadPosRankSum=3.24;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:36,0,7,0:43:99:0|1:24364309_GCTC_G:1180,245,2518,0,1450,2579,932,2286,2190,3301:24364309	14	1	1	3
chrX	24364323	24364326	TCTA	0	exonic	SUPT20HL1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	236.33	63	chrX	24364323	.	TCTA	*,T	236.33	.	AC=4,1;AF=0.105,0.026;AN=38;BaseQRankSum=1.53;DP=1488;ExcessHet=0.0454;FS=0.604;InbreedingCoeff=0.3023;MLEAC=4,1;MLEAF=0.105,0.026;MQ=59.05;MQRankSum=-5.358e+00;QD=1.50;ReadPosRankSum=2.58;SOR=0.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,0,7:44:99:0|1:24364309_GCTC_G:1176,242,2515,0,1489,2621:24364309	15	1	2	2
chrX	24364324	24364326	CTA	-	exonic	SUPT20HL1	.	nonframeshift deletion	SUPT20HL1:NM_001136234:exon1:c.1642_1644del:p.L548del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0122	.	.	.	.	.	.	.	.	.	.	.	.	rs1181749854	7.466e-06	3.364e-05	8.519e-06	4.995e-06	9.671e-06	2.19e-06	1.59e-06	2.83e-06	2.06e-06	0	0	0	0	0	0	9.671e-06	0	0	4.925e-05	0.0002	5.171e-05	4.309e-05	0.0001	1.65e-05	9.75e-06	7.6e-06	2.84e-06	6.052e-05	0	0.0001	0	0	0	0	4.586e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	236.33	63	chrX	24364323	.	TCTA	*,T	236.33	.	AC=4,1;AF=0.105,0.026;AN=38;BaseQRankSum=1.53;DP=1488;ExcessHet=0.0454;FS=0.604;InbreedingCoeff=0.3023;MLEAC=4,1;MLEAF=0.105,0.026;MQ=59.05;MQRankSum=-5.358e+00;QD=1.50;ReadPosRankSum=2.58;SOR=0.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,0,7:44:99:0|1:24364309_GCTC_G:1176,242,2515,0,1489,2621:24364309	15	1	2	2
chrX	24364336	24364336	G	0	exonic	SUPT20HL1	.	.	.	.	.	397	1074	7	2	42	53	0.00509495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	620.36	63	chrX	24364336	.	G	*,C	620.36	.	AC=4,1;AF=0.105,0.026;AN=38;BaseQRankSum=-2.180e+00;DP=1411;ExcessHet=0.0409;FS=0.000;InbreedingCoeff=0.2222;MLEAC=4,1;MLEAF=0.105,0.026;MQ=59.45;MQRankSum=0.00;QD=3.74;ReadPosRankSum=3.60;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:41,0,11:52:99:1|0:24364312_CCTGCTCCTGCTCTAGCTGCTGCTG_C:1262,626,4481,0,1754,1547:24364312	15	1	2	2
chrX	31774105	31774105	A	G	exonic	DMD	.	nonsynonymous SNV	DMD:NM_004013:exon8:c.T17C:p.M6T	Becker muscular dystrophy, X-linked recessive;Cardiomyopathy, dilated, 3B, X-linked;Duchenne muscular dystrophy, X-linked recessive	YES	0	1517	2	3	0	8	0.00262985	.	.	231260	Duchenne_muscular_dystrophy|Cardiomyopathy|Becker_muscular_dystrophy|Dystrophin_deficiency|not_specified|Cardiovascular_phenotype	MONDO:MONDO:0010679,MedGen:C0013264,OMIM:310200,Orphanet:98896|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010311,MedGen:C0917713,OMIM:300376,Orphanet:98895|.|MedGen:CN169374|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.35	T	0.033	B	0.015	B	0.119	U	1.000	N	0.345	N	4.14	T	-1.046	T	0.097	T	0.187	0.749	7.970	3.92	1.682	5.111	9.453	0.065	0.0127229092561	.	0.000264901	0.0001	0	0	0	0	0	0.0016	0.0009	9.7e-05	15	154602	rs764330616	4.373e-05	4.371e-05	3.948e-05	5.232e-05	0.0006	3.386e-05	2.994e-05	0.0004	0.0004	0	0	0	0	0	0.0005	1.188e-05	6.511e-05	0.0006	4.499e-05	4.35e-05	2.57e-05	9.003e-05	0.0015	1.715e-05	1.055e-05	0.0005	0.0003	0	0	0	0	0	0	0	1.884e-05	0	0.0015	0.775	0.33753	T	0.579	0.31730	T	0.003	0.14655	B	0.002	0.17295	B	0.118850	0.19098	U	0.263342	0.999217	0.22071	N	.	.	.	4.14	0.59314	T	0.1	0.07590	N	0.287	0.34767	-1.0463	0.15447	T	0.097	0.36522	T	10	0.022605687	0.00569	T	0.012723	0.31538	T	0.065	0.18881	0.379	0.39482	0.668027028311	0.66522	0.19363568612650628	0.19281	0.0160503617592	0.01538	0.491201877594	0.37605	T	0.216017	0.58251	T	-0.511347	0.00493	T	-0.585278	0.14077	T	0.0624239043498641	0.07545	T	0.735926	0.36463	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.50988	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.120826	0.42134	21.5	0.81455851074830066	0.13694	0.91378	0.53413	D	AEFBI	.	.	.	.	.	.	.	.	.	0.77684649623209	0.23767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.08	3.92	0.44525	4.169000	0.58014	9.083000	0.78722	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9154:0.0:0.0846:0.0	9.453	0.37903	832	0.38914	.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1939.98	33	chrX	31774105	.	A	G	1939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.451e+00;DP=896;ExcessHet=0.0000;FS=0.540;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=-2.640e-01;SOR=0.641	GT:AD:DP:GQ:PL	0/1:100,86:186:99:1954,0,2538	20	0	1	0
chrX	37010136	37010136	G	A	exonic	FAM47C	.	nonsynonymous SNV	FAM47C:NM_001013736:exon1:c.G1726A:p.D576N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.706	P	0.037	B	.	.	1.000	N	-0.205	N	2.56	T	-0.983	T	0.009	T	0.01	2.165	13.20	-1.72	-0.773	-1.469	0.829	0.075	0.000882354146119	.	0.0010596	0.0004	0.0033	0.0006	0	0	6.278e-05	0	9.902e-05	0.0004204	65	154602	rs782543670	0.0001	0.0005	0.0001	9.229e-05	0.0022	9.885e-05	9.279e-05	0.0018	0.0016	0.0022	0.0004	0	0.0001	0	0	4.07e-05	0.0003	9.275e-05	0.0058	0.0099	0.0073	0	0.0071	0.0054	0.0052	0.0054	0.0049	0.0057	0.0046	0.0071	0.0015	0.0028	0.0473	0.0125	0.0031	0.0061	0.0043	0.109	0.29288	T	0.468	0.12316	T	0.706	0.42003	P	0.037	0.23121	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.56	0.13673	T	-0.86	0.23372	N	0.018	0.00252	-0.9828	0.34351	T	0.009	0.03140	T	9	0.0051543415	0.00112	T	8.82E-4	0.00800	T	0.075	0.21907	.	.	0.236890367714	0.23314	0.06558799439012124	0.06497	0.315144770865	0.33798	0.431065708399	0.29354	T	0.003171	0.02576	T	-0.612402	0.00122	T	-1.11745	0.00019	T	0.0246720364947781	0.01230	T	0.420658	0.11177	T	0.039820112	0.05570	0.04634656	0.06438	0.039820112	0.05569	0.04634656	0.06438	-4.316	0.28400	T	.	.	0.082	0.08754	B	.	.	-0.163743	0.03281	0.562	0.99560147593431514	0.71707	0.00295	0.01577	N	AEFBI	.	.	.	.	.	.	.	.	.	1.61132445378356E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.68	-1.72	0.07671	0.409000	0.20803	-1.978000	0.04401	-1.837000	0.00584	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.1821:0.2196:0.3774:0.2209	0.829	0.01054	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1128.98	326	chrX	37010136	.	G	A	1128.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.39;DP=2408;ExcessHet=0.0000;FS=1.131;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.67;MQRankSum=4.62;QD=3.99;ReadPosRankSum=-5.906e+00;SOR=0.807	GT:AD:DP:GQ:PL	0/1:223,60:283:99:1143,0,5492	20	0	1	0
chrX	38285877	38285891	TCCTCTCCTTCCTCT	-	exonic	RPGR	.	nonframeshift deletion	RPGR:NM_001034853:exon15:c.3108_3122del:p.E1038_E1042del,	Cone-rod dystrophy, X-linked, 1, X-linked;Macular degeneration, X-linked atrophic, X-linked recessive;Retinitis pigmentosa 3;Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness	.	.	.	.	.	.	.	.	.	.	1195756	Primary_ciliary_dyskinesia|not_provided	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0136	.	0.0029	0.0263	0.0011	0	0	5.186e-05	0.0019	0.0001	0.0001921	5	26028	rs774012136	0.0008	0.0008	0.0009	0.0007	0.0280	0.0008	0.0008	0.0263	0.0256	0.0280	0.0013	5.171e-05	0	0	0.0012	4.883e-05	0.0019	0.0001	0.0056	0.0079	0.0069	0.0019	0.0200	0.0053	0.0051	0.0186	0.0181	0.0200	0	0.0013	0	0	0	0.0051	0.0001	0.0029	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1203.94	43	chrX	38285876	.	CTCCTCTCCTTCCTCT	C	1203.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.740e-01;DP=835;ExcessHet=0.0000;FS=9.299;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.12;ReadPosRankSum=-2.468e+00;SOR=0.042	GT:AD:DP:GQ:PL	0/1:26,31:57:99:1218,0,995	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	0/1:146,116,0:262:99:3297,0,3655,3736,4003,7739	14	3	3	0
chrX	46860080	46860080	C	G	exonic	RP2	.	nonsynonymous SNV	RP2:NM_006915:exon3:c.C861G:p.D287E,	Retinitis pigmentosa 2, X-linked	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.004	N	0.508	N	0.805	L	-1.05	T	-0.904	T	0.175	T	0.025	0.884	8.588	-0.524	-0.134	-0.136	4.248	0.168	0.230313912941	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1164991027	1.322e-05	0.0002	1.926e-05	0	1.486e-05	7.67e-06	6e-06	7.92e-06	6.26e-06	0	0	0	0	2.497e-05	0	1.486e-05	2.235e-05	0	1.798e-05	2.619e-05	2.576e-05	0	6.526e-05	2.99e-06	1.12e-06	1.081e-05	4.04e-06	6.526e-05	0	0	0	0	0	0	0	0	0	0.761	0.03471	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.004404	0.33773	N	0.334919	0.507853	0.31672	N	0.57	0.15267	N	-1.05	0.76690	T	0.03	0.06612	N	0.03	0.00717	-0.9042	0.47538	T	0.175	0.51911	T	10	0.058759242	0.06959	T	0.230314	0.88224	D	0.168	0.42943	0.195	0.10705	0.128874641272	0.12493	0.2934621766006824	0.29259	0.277198454346	0.30193	0.347113490105	0.17496	T	0.056646	0.30345	T	-0.384829	0.02904	T	-0.790557	0.02150	T	0.0884944275021553	0.11037	T	0.659134	0.26825	T	0.07924659	0.18093	0.045651473	0.06190	0.07924659	0.18093	0.045651473	0.06189	-3.296	0.13686	T	0.16473243430326467	0.20376	0.083	0.09094	B	.	.	1.155586	0.15440	11.85	0.95785485670045956	0.27815	0.83476	0.42591	D	AEFBI	.	.	.	.	.	.	.	.	.	0.752834093680785	0.23387	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.65	-0.524	0.11325	-0.132000	0.10446	0.440000	0.18415	0.599000	0.40250	0.838000	0.30254	0.994000	0.32194	0.991000	0.66497	0.3325:0.2238:0.0:0.4437	4.248	0.10130	131	0.94738	Tubulin binding cofactor C-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	51.38	40	chrX	46860080	.	C	G	51.38	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.552e+00;DP=840;ExcessHet=0.3300;FS=305.774;InbreedingCoeff=-0.0921;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.23;ReadPosRankSum=1.29;SOR=8.713	GT:AD:DP:GQ:PL	0/1:61,15:76:6:6,0,1305	18	0	3	0
chrX	48060064	48060064	A	T	exonic	ZNF630	.	nonsynonymous SNV	ZNF630:NM_001037735:exon5:c.T378A:p.D126E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.213	B	0.029	B	.	.	1.000	N	-0.67	N	5.7	T	-0.957	T	0.006	T	0.101	0.158	4.852	-1.36	-0.415	-0.010	3.342	0.014	0.000781140127824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.91255	T	1.0	0.01155	T	0.213	0.30041	B	0.029	0.21540	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	3.71	0.06681	T	1.2	0.44852	N	0.064	0.03613	-0.9573	0.39681	T	0.006	0.02018	T	9	0.05631414	0.06294	T	7.81E-4	0.00588	T	0.014	0.01968	0.319	0.29741	0.0666544352282	0.05500	0.014332727416997638	0.01390	0.0261545243825	0.02673	0.346656858921	0.17428	T	0.002046	0.01452	T	-0.4833	0.00708	T	-0.932004	0.00324	T	0.0742346480358183	0.09233	T	0.105489	0.08484	T	0.045468997	0.07448	0.065172486	0.13171	0.045468997	0.07448	0.065172486	0.13171	-1.513	0.01791	T	.	.	0.174	0.38172	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.359105	0.02369	0.260	0.81599507816448702	0.13766	0.02021	0.06069	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.00201656992604401	0.09087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.8	-1.36	0.08610	-1.034000	0.03678	-9.407000	0.00825	0.684000	0.82519	0.000000	0.06391	0.000000	0.08366	0.358000	0.25841	0.3047:0.4633:0.0:0.232	3.342	0.06704	556	0.71678	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	2318.98	62	chrX	48060064	.	A	T	2318.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.723;DP=1010;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.83;ReadPosRankSum=0.223;SOR=0.699	GT:AD:DP:GQ:PL	0/1:101,95:196:99:2333,0,2597	20	0	1	0
chrX	49039321	49039321	G	A	exonic	TFE3	.	nonsynonymous SNV	TFE3:NM_001282142:exon3:c.C5T:p.S2L	Renal cell carcinoma, papillary, 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.081	B	0.006	B	0.033	N	0.592	D	0.975	L	2.36	T	-1.075	T	0.033	T	0.372	3.606	18.35	4.5	1.032	4.104	10.422	0.049	0.00633501382377	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264471344	3.693e-06	3.652e-06	4.101e-06	2.843e-06	3.338e-05	8.6e-07	5.8e-07	9.6e-07	2.7e-07	0	0	0	3.338e-05	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.213	0.26467	T	0.081	0.24602	B	0.006	0.12133	B	0.033198	0.24930	N	0.326142	0.592321	0.32467	D	1.7	0.43825	L	2.36	0.16089	T	-1.73	0.41046	N	0.299	0.33796	-1.0749	0.08369	T	0.033	0.14290	T	10	0.24231541	0.41425	T	0.006335	0.16639	T	0.049	0.13647	0.27	0.21893	0.138757226776	0.13463	0.5193158588637525	0.51854	0.814098478581	0.66863	0.759120702744	0.75799	T	0.589346	0.86673	D	-0.247526	0.14404	T	-0.59333	0.13380	T	0.7932049036026	0.45900	D	0.885811	0.61165	D	0.2122582	0.43572	0.26008326	0.51767	0.2122582	0.43572	0.26008326	0.51766	-3.557	0.17239	T	.	.	0.142	0.31177	B	.	.	4.345984	0.66707	25.0	0.99770152349359653	0.85834	0.95598	0.65363	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999971519615	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.36	4.5	0.54382	3.035000	0.49449	11.610000	0.93539	0.676000	0.76740	0.982000	0.35529	1.000000	0.68203	1.000000	0.97212	0.0948:0.0:0.9052:0.0	10.422	0.43544	36	0.98055	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1111	316.45	92	chrX	49039321	.	G	A	316.45	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.018e+00;DP=1222;ExcessHet=0.6776;FS=177.302;InbreedingCoeff=-0.1672;MLEAC=5;MLEAF=0.139;MQ=60.00;MQRankSum=0.00;QD=0.84;ReadPosRankSum=-3.700e-02;SOR=10.330	GT:AD:DP:GQ:PL	0/1:71,26:97:41:41,0,1155	14	0	4	3
chrX	49319734	49319734	A	T	exonic	GAGE10	.	nonsynonymous SNV	GAGE10:NM_001098413:exon5:c.A335T:p.K112M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.003	B	0.016	B	.	.	1.000	N	0.895	L	2.91	T	-0.966	T	0.018	T	0.23	-0.118	3.421	-0.701	-0.315	-0.635	2.463	0.023	0.00146938717643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.889e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.031	0.53788	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.91	0.10008	T	-0.84	0.22944	N	0.233	0.26233	-0.9662	0.37974	T	0.018	0.07423	T	9	0.087542295	0.14989	T	0.001469	0.02241	T	0.023	0.04649	0.438	0.49157	0.0401082797425	0.02173	0.010120677502946795	0.00974	0.00750058978399	0.00664	0.304893493652	0.11135	T	.	.	.	-0.430483	0.01472	T	-0.856136	0.00886	T	0.0439375365395882	0.04408	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.34927	B	.	.	0.775834	0.11457	8.064	0.51726025860187996	0.04616	0.00601	0.02681	N	AEFI	.	.	.	.	.	.	.	.	.	1.340489349499E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.56	-0.701	0.10702	-0.593000	0.05835	-3.381000	0.02830	-0.943000	0.02073	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2537:0.3164:0.4299:0.0	2.463	0.04269	51	0.97631	.	.	.	.	.	.	Uncertain significance	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	54.07	15	chrX	49319734	.	A	T	54.07	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.395e+00;DP=227;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0309;MLEAC=1;MLEAF=0.024;MQ=22.28;MQRankSum=0.622;QD=2.35;ReadPosRankSum=0.970;SOR=0.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,5:23:68:0|1:49319730_G_A:68,0,513:49319730	20	0	1	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X	.	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	0.974	N	.	.	.	.	.	.	.	.	.	2.938	15.79	0.637	0.126	1.026	4.504	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.6429	358994.42	659	chrX	55146104	.	G	A	358994.42	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.384;DP=14798;ExcessHet=17.4423;FS=0.000;InbreedingCoeff=-0.5620;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=25.13;ReadPosRankSum=0.159;SOR=0.675	GT:AD:DP:GQ:PL	0/1:173,674:847:99:19080,0,2456	0	6	15	0
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S	.	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.137	B	0.013	B	.	.	1.000	N	0	N	1.03	T	-1.045	T	0.046	T	0.044	2.192	13.29	0.635	0.130	1.087	4.527	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	44724.71	464	chrX	55146173	.	G	A	44724.71	.	AC=16;AF=0.400;AN=40;BaseQRankSum=1.44;DP=14192;ExcessHet=22.9655;FS=0.657;InbreedingCoeff=-0.6471;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=3.95;ReadPosRankSum=0.470;SOR=0.810	GT:AD:DP:GQ:PL	0/1:777,75:852:99:560,0,25676	4	0	16	1
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X	.	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	0.067	U	1.000	D	.	.	.	.	.	.	.	.	.	1.559	11.17	1.6	1.084	1.600	6.091	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4048	41330.81	464	chrX	55146197	.	G	A	41330.81	.	AC=17;AF=0.405;AN=42;BaseQRankSum=1.21;DP=12738;ExcessHet=25.1139;FS=0.664;InbreedingCoeff=-0.6768;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=4.19;ReadPosRankSum=-3.990e-01;SOR=0.814	GT:AD:DP:GQ:PL	0/1:686,64:750:99:561,0,23335	4	0	17	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N	.	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.003	B	0.001	B	0.171	N	1.000	P	-0.345	N	1.04	T	-1.045	T	0.035	T	0.025	-1.501	0.017	-1.04	-0.355	-0.019	4.225	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	279484.49	466	chrX	55146212	.	C	T	279484.49	.	AC=22;AF=0.524;AN=42;BaseQRankSum=2.82;DP=11864;ExcessHet=43.6797;FS=1.429;InbreedingCoeff=-0.9104;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=25.15;ReadPosRankSum=1.65;SOR=0.530	GT:AD:DP:GQ:PL	0/1:157,510:667:99:15431,0,2603	0	1	20	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	0/1:163,304:467:99:8995,0,4117	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	0/1:102,257:359:99:8131,0,2138	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	0/1:270,39:309:99:335,0,8959	5	0	15	1
chrX	57910186	57910186	G	C	exonic	ZXDA	.	nonsynonymous SNV	ZXDA:NM_007156:exon1:c.C235G:p.H79D,	.	.	427	1093	1	1	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.792	N	1.000	N	-1.245	N	2.18	T	-0.965	T	0.012	T	0.067	-3.049	0.001	0.144	-0.084	0.024	0.469	0.041	0.000667446444109	0.0001	0.00238411	0.0012	0.0017	0.0022	0.0013	0	0.0007	0.0024	0.0028	0.0010026	155	154602	rs151072020	0.0010	0.0011	0.0010	0.0011	0.0029	0.0010	0.0010	0.0025	0.0024	0.0020	0.0019	5.212e-05	0.0003	2.761e-05	0.0028	0.0009	0.0014	0.0029	0.0008	0.0009	0.0009	0.0008	0.0022	0.0007	0.0006	0.0013	0.0011	0.0016	0	0.0010	0	0.0003	0	0	0.0004	0.0013	0.0022	1.0	0.00964	T	0.66	0.06511	T	0.0	0.02946	B	0.0	0.01387	B	0.791822	0.09391	N	0.883731	1	0.08975	N	-2.24	0.00112	N	2.18	0.18875	T	0.62	0.02442	N	0.028	0.00618	-0.9647	0.38270	T	0.012	0.04653	T	9	0.0042077005	0.00084	T	6.67E-4	0.00383	T	0.041	0.10877	.	.	0.408172294925	0.40431	0.07234410521092363	0.07171	0.864492229153	0.69148	0.849402487278	0.89524	D	0.003572	0.02980	T	-0.896413	0.00000	T	-1.06596	0.00051	T	0.00734522265928516	0.00084	T	0.175982	0.01702	T	0.043308835	0.06725	0.061772823	0.11982	0.043308835	0.06725	0.061772823	0.11982	-2.674	0.07087	T	.	.	0.052	0.00207	B	.	.	-0.412555	0.02166	0.211	0.46594618899068529	0.03744	0.00665	0.02874	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999744830833	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.97	0.144	0.14120	-0.238000	0.08995	-0.221000	0.10763	-1.123000	0.01469	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1995:0.3486:0.1943:0.2576	0.469	0.00493	434	0.80536	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2997.98	36	chrX	57910186	.	G	C	2997.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.330e-01;DP=971;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.66;MQRankSum=-4.331e+00;QD=17.64;ReadPosRankSum=-4.920e-01;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,79:170:99:0|1:57910186_G_C:3012,0,3504:57910186	20	0	1	0
chrX	57910189	57910189	G	T	exonic	ZXDA	.	nonsynonymous SNV	ZXDA:NM_007156:exon1:c.C232A:p.P78T,	.	.	428	1092	1	1	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	B	0.055	B	0.716	N	1.000	N	1.1	L	2.31	T	-0.982	T	0.030	T	0.148	-0.019	3.918	1.16	0.186	0.126	6.466	0.006	0.00308391317375	0.0003	0.00238411	0.0012	0.0018	0.0022	0.0011	0	0.0006	0.0024	0.0028	0.001022	158	154602	rs139794208	0.0010	0.0011	0.0010	0.0011	0.0029	0.0010	0.0010	0.0025	0.0024	0.0021	0.0018	5.216e-05	0.0003	2.776e-05	0.0028	0.0009	0.0014	0.0029	0.0008	0.0009	0.0009	0.0008	0.0022	0.0007	0.0007	0.0013	0.0012	0.0016	0	0.0011	0	0	0	0	0.0004	0.0020	0.0022	0.086	0.32610	T	0.182	0.29249	T	0.19	0.29379	B	0.055	0.25995	B	0.716006	0.09975	N	0.841168	1	0.08975	N	2.075	0.57047	M	2.31	0.16794	T	-0.36	0.13035	N	0.017	0.00226	-0.9820	0.34538	T	0.030	0.12717	T	9	0.0031093955	0.00052	T	0.003084	0.06666	T	0.006	0.00375	.	.	0.561599553422	0.55821	0.08546850697997276	0.08480	0.757983570904	0.64101	0.8126937747	0.83906	D	0.00372	0.03130	T	-0.746521	0.00019	T	-0.85065	0.00951	T	0.00332402600560495	0.00035	T	0.368163	0.08622	T	0.050990686	0.09298	0.07404347	0.16156	0.050990686	0.09297	0.07404347	0.16156	-4.84	0.35053	T	.	.	0.079	0.07412	B	.	.	1.433961	0.18528	13.78	0.87425387332635029	0.17218	0.04348	0.09914	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999814692377	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.97	1.16	0.19936	0.344000	0.19703	1.429000	0.26431	0.554000	0.28208	0.015000	0.19116	0.921000	0.28324	0.034000	0.13613	0.2747:0.0:0.7253:0.0	6.466	0.21184	434	0.80536	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3019.98	36	chrX	57910189	.	G	T	3019.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.880e+00;DP=972;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.70;MQRankSum=-4.458e+00;QD=17.66;ReadPosRankSum=-1.276e+00;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,80:171:99:0|1:57910186_G_C:3034,0,3501:57910186	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	0/4:0,0,0,0,12,0,0:19:84:474,488,561,488,561,561,488,561,561,561,0,84,84,84,111,488,561,561,561,84,561,488,561,561,561,84,561,561	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	0/4:0,0,0,0,12,0,0:19:84:474,488,561,488,561,561,488,561,561,561,0,84,84,84,111,488,561,561,561,84,561,488,561,561,561,84,561,561	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	0/4:0,0,0,0,12,0,0:19:84:474,488,561,488,561,561,488,561,561,561,0,84,84,84,111,488,561,561,561,84,561,488,561,561,561,84,561,561	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	0/4:0,0,0,0,12,0,0:19:84:474,488,561,488,561,561,488,561,561,561,0,84,84,84,111,488,561,561,561,84,561,488,561,561,561,84,561,561	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	0/4:0,0,0,0,12,0,0:19:84:474,488,561,488,561,561,488,561,561,561,0,84,84,84,111,488,561,561,561,84,561,488,561,561,561,84,561,561	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	0/3:9,0,0,19,0,0,0:28:99:.:.:713,740,1118,740,1118,1118,0,378,378,320,740,1118,1118,378,1118,740,1118,1118,378,1118,1118,740,1118,1118,378,1118,1118,1118	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	0/3:9,0,0,19,0,0,0:28:99:.:.:713,740,1118,740,1118,1118,0,378,378,320,740,1118,1118,378,1118,740,1118,1118,378,1118,1118,740,1118,1118,378,1118,1118,1118	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	0/3:9,0,0,19,0,0,0:28:99:.:.:713,740,1118,740,1118,1118,0,378,378,320,740,1118,1118,378,1118,740,1118,1118,378,1118,1118,740,1118,1118,378,1118,1118,1118	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	0/3:9,0,0,19,0,0,0:28:99:.:.:713,740,1118,740,1118,1118,0,378,378,320,740,1118,1118,378,1118,740,1118,1118,378,1118,1118,740,1118,1118,378,1118,1118,1118	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	0/3:9,0,0,19,0,0,0:28:99:.:.:713,740,1118,740,1118,1118,0,378,378,320,740,1118,1118,378,1118,740,1118,1118,378,1118,1118,740,1118,1118,378,1118,1118,1118	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	0/3:9,0,0,19,0,0,0:28:99:.:.:713,740,1118,740,1118,1118,0,378,378,320,740,1118,1118,378,1118,740,1118,1118,378,1118,1118,740,1118,1118,378,1118,1118,1118	11	3	1	0
chrX	70554698	70554698	A	G	exonic	TEX11	.	nonsynonymous SNV	TEX11:NM_031276:exon26:c.T2243C:p.V748A	Spermatogenic failure, X-linked, 2, X-linked recessive	.	.	.	.	.	.	.	.	.	.	969227	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.009	B	0.018	B	0.000	D	0.940	N	2.135	M	1.39	T	-0.988	T	0.118	T	0.324	3.026	16.10	2.01	0.189	4.504	6.754	0.112	0.00645112285476	.	.	0.0002	0	0	0	0	0.0004	0	0.0001	0.0001876	29	154602	rs200139216	0.0003	0.0003	0.0003	0.0003	0.0034	0.0002	0.0002	0.0021	0.0016	0.0002	0.0002	0.0016	0	0.0003	0.0034	0.0002	0.0005	0.0004	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	9.204e-05	8.744e-05	6.545e-05	3.238e-05	0	9.5e-05	0.0008	0	0.0003	0.0092	0.0002	0.0013	0	0.013	0.65419	D	0.013	0.63109	D	0.008	0.15093	B	0.018	0.18489	B	0.000188	0.48115	D	0.083191	0.939515	0.26833	N	2.075	0.57047	M	1.38	0.49068	T	-2.27	0.55983	N	0.596	0.66016	-0.9877	0.33175	T	0.118	0.41429	T	9	0.043995053	0.03307	T	0.006451	0.16985	T	0.112	0.31546	.	.	0.304565745084	0.30068	0.29151276273309096	0.29064	0.932667358247	0.71902	0.396021962166	0.24515	T	0.122652	0.44648	T	-0.38861	0.02746	T	-0.516553	0.20644	T	0.0709873985953135	0.08788	T	0.433257	0.12306	T	0.14200735	0.32698	0.1776705	0.40384	0.14200735	0.32698	0.1776705	0.40384	-6.053	0.47890	T	0.2875523398532233	0.38372	0.123	0.31633	B	.;.;.;.	.;.;.;.	3.282945	0.44992	22.0	0.99495111923471058	0.67687	0.79383	0.39326	D	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.0506297204717722	0.14846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.43	2.01	0.25568	4.460000	0.59844	.	.	0.731000	0.85647	0.970000	0.34288	0.999000	0.35428	0.995000	0.73285	0.7924:0.0:0.2076:0.0	6.754	0.22692	64	0.97283	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1981.98	48	chrX	70554698	.	A	G	1981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.640e+00;DP=1032;ExcessHet=0.0000;FS=1.915;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=-1.398e+00;SOR=0.554	GT:AD:DP:GQ:PL	0/1:80,86:166:99:1996,0,1981	20	0	1	0
chrX	70744181	70744181	G	A	exonic	TEX11	.	nonsynonymous SNV	TEX11:NM_031276:exon10:c.C731T:p.T244I	Spermatogenic failure, X-linked, 2, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	B	0.046	B	0.730	N	1.000	N	-0.345	N	-0.06	T	-0.999	T	0.090	T	0.031	-0.791	0.701	-3.4	-0.871	-0.093	11.478	0.072	0.0111470266323	.	.	0.0001	0	0	0	0	0.0002	0	0.0001	0.0001294	20	154602	rs762957753	0.0002	0.0002	0.0002	0.0002	0.0028	0.0002	0.0002	0.0015	0.0011	0.0002	4.705e-05	0.0002	0	0.0003	0.0028	0.0002	0.0003	0.0004	0.0001	0.0001	0.0001	6.797e-05	0.0002	7.212e-05	5.643e-05	7.597e-05	5.56e-05	3.406e-05	0	0	0	0	0.0002	0.0100	0.0002	0.0007	0	0.454	0.08891	T	0.452	0.12884	T	0.017	0.18474	B	0.027	0.24676	B	0.730008	0.09863	N	0.871861	1	0.08975	N	-0.345	0.03330	N	-0.06	0.63568	T	-0.76	0.21215	N	0.05	0.02179	-0.9990	0.30199	T	0.090	0.34436	T	9	0.030699372	0.01198	T	0.011147	0.28477	T	0.072	0.21020	.	.	0.0675242888579	0.06100	0.05024994014419871	0.04967	0.337045493056	0.35701	0.50074583292	0.38932	T	0.04434	0.26786	T	-0.637371	0.00086	T	-0.888887	0.00584	T	0.915326237678528	0.57231	D	0.547145	0.18749	T	0.03896558	0.05292	0.070824	0.15094	0.03896558	0.05291	0.070824	0.15093	-1.726	0.02298	T	0.10202183391949064	0.07708	0.084	0.09820	B	.;.;.	.;.;.	0.081301	0.04875	1.462	0.30738287090758126	0.01697	0.00150	0.00907	N	AEFI	.	.	.	.	.	.	.	.	.	1.01716596533098E-5	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.66	-3.4	0.04549	-0.066000	0.11556	.	.	-0.279000	0.06446	0.000000	0.06391	0.000000	0.08366	0.076000	0.17014	0.2274:0.0:0.7726:0.0	11.478	0.49558	19	0.98577	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	490.0	34	chrX	70744181	.	G	A	490.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=489;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0261;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.75;ReadPosRankSum=0.610;SOR=0.798	GT:AD:DP:GQ:PL	0/1:35,21:56:99:504,0,786	20	0	1	0
chrX	101269209	101269209	C	T	exonic	TAF7L	.	nonsynonymous SNV	TAF7L:NM_001168474:exon13:c.G1115A:p.R372H	.	.	2	1488	22	10	0	42	0.0139165	.	.	1196264	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.55	T	0.462	P	0.056	B	0.158	N	1.000	N	0.345	N	2.51	T	-1.048	T	0.016	T	0.097	0.232	5.255	-8.67	-1.745	-0.476	4.451	0.019	.	0.0069	0.00476821	0.0065	0.0040	0.0023	0.0021	0.0004	0.0076	0.0191	0.0122	0.0066558	1029	154602	rs41310729	0.0090	0.0091	0.0090	0.0091	0.0518	0.0089	0.0088	0.0462	0.0440	0.0033	0.0038	0.0166	0.0013	0.0008	0.0518	0.0095	0.0105	0.0108	0.0072	0.0073	0.0073	0.0070	0.0134	0.0068	0.0067	0.0116	0.0109	0.0028	0	0.0134	0.0188	0.0028	0.0005	0.0691	0.0085	0.0125	0.0119	0.541	0.06802	T	0.57	0.09361	T	0.0	0.36386	B	0.0	0.26147	B	0.157777	0.03014	N	1.843890	1	0.08975	N	0.69	0.16971	N	2.51	0.22881	T	0.41	0.04456	N	0.017	0.00308	-1.0478	0.15016	T	0.016	0.06664	T	10	0.002762109	0.00043	T	.	.	.	0.019	0.03383	.	.	0.082315109003	0.07666	0.012499554851310974	0.01208	0.328917698921	0.35008	0.22695505619	0.01750	T	0.026244	0.19463	T	-0.840468	0.00003	T	-0.969662	0.00206	T	0.000724680391291421	0.00007	T	0.556944	0.20320	T	0.015645096	0.00150	0.031745635	0.01806	0.015645096	0.00150	0.031745635	0.01806	-3.2	0.12480	T	.	.	0.064	0.01762	B	.;.;.	.;.;.	-1.079520	0.00665	0.019	0.71253380426068835	0.09567	0.00356	0.01829	N	AEFGI	.	.	.	.	.	.	.	.	.	0.999645926751354	0.41316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.33	-8.67	0.00748	-0.483000	0.06616	-2.289000	0.03945	-1.021000	0.01731	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0979:0.4206:0.3362:0.1452	4.451	0.11041	124	0.95048	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1337.11	33	chrX	101269209	.	C	T	1337.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.357;DP=757;ExcessHet=0.1072;FS=1.435;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=0.718;SOR=0.538	GT:AD:DP:GQ:PL	0/1:33,33:66:99:784,0,762	19	0	2	0
chrX	108072811	108072811	G	A	exonic	VSIG1	.	nonsynonymous SNV	VSIG1:NM_182607:exon4:c.G547A:p.V183M	.	.	438	1078	5	1	0	7	0.00323625	.	.	3342288	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.25	T	0.995	D	0.786	P	0.432	N	1.000	N	1.12	L	2.4	T	-0.985	T	0.053	T	0.074	1.361	10.48	-6.25	-1.728	-0.437	11.157	0.075	0.00522759005551	0.0005	0.000264901	0.0005	0.0001	0.0004	0	0	0.0008	0.0016	0.0001	0.0005175	80	154602	rs150942663	0.0004	0.0004	0.0004	0.0005	0.0070	0.0004	0.0004	0.0050	0.0043	0.0003	0.0002	0.0006	3.311e-05	7.408e-05	0.0070	0.0004	0.0008	7.391e-05	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	3.289e-05	0	0.0003	0.0008	0.0003	0	0.0092	0.0005	0.0007	0	0.038	0.42783	D	0.008	0.67890	D	0.989	0.62824	D	0.782	0.57384	P	0.432005	0.04710	N	1.356490	1	0.08975	N	0.205	0.09354	N	2.4	0.15608	T	-0.59	0.17624	N	0.033	0.01347	-0.9851	0.33808	T	0.053	0.22578	T	10	0.016896963	0.00358	T	0.005228	0.13341	T	0.075	0.21907	.	.	0.115124310173	0.11017	0.2939831899185672	0.29311	0.222785392299	0.24815	0.31012481451	0.11925	T	0.023958	0.18193	T	-0.811965	0.00006	T	-1.02214	0.00101	T	0.0358553899030906	0.02955	T	0.711229	0.32236	T	0.045176454	0.07349	0.079315335	0.17843	0.045176454	0.07348	0.079315335	0.17843	-5.511	0.43129	T	.	.	0.128	0.27343	B	.;.	.;.	-0.044309	0.03985	0.902	0.99124792463138089	0.53089	0.00326	0.01707	N	AEFDBIJ	.	.	.	.	.	.	.	.	.	0.999994820406609	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.25	-6.25	0.01863	-0.294000	0.08346	0.158000	0.15372	-0.907000	0.02291	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.7703:0.0:0.1229:0.1069	11.157	0.47720	77	0.96778	.;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	1705.98	34	chrX	108072811	.	G	A	1705.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=820;ExcessHet=0.0000;FS=6.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=2.84;SOR=1.280	GT:AD:DP:GQ:PL	0/1:73,62:135:99:1720,0,1879	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	0/1:52,27:94:48:48,0,689	5	0	16	0